eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| hutchinson-gilford progeria syndrome | ||||
| Disease ID | 306 |
|---|---|
| Disease | hutchinson-gilford progeria syndrome |
| Definition | An abnormal congenital condition, associated with defects in the LAMIN TYPE A gene, which is characterized by premature aging in children, where all the changes of cell senescence occur. It is manifested by premature greying; hair loss; hearing loss (DEAFNESS); cataracts (CATARACT); ARTHRITIS; OSTEOPOROSIS; DIABETES MELLITUS; atrophy of subcutaneous fat; skeletal hypoplasia; elevated urinary HYALURONIC ACID; and accelerated ATHEROSCLEROSIS. Many affected individuals develop malignant tumors, especially SARCOMA. |
| Synonym | hgps hutchinson gilford progeria syndrome hutchinson gilford syndrome hutchinson-gilford disease hutchinson-gilford progeria syndromes hutchinson-gilford syndrome hutchinson-gilford syndrome (disorder) premature senility syndrome progeria progeria (disorder) progeria [disease/finding] progeria syndrome progeria syndrome (disorder) progeria syndrome (disorder) [ambiguous] progeria syndrome, hutchinson-gilford progeria syndromes, hutchinson-gilford |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0033300 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:8) C0033300 | progeria | 2 C0003507 | aortic valve stenosis | 1 C0042373 | vascular diseases | 1 C0004153 | atherosclerosis | 1 C0043119 | werner syndrome | 1 C0403414 | post-streptococcal glomerulonephritis | 1 C0040188 | tic disorders | 1 C0042373 | vascular disease | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:4) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:111) 111 | ADCY5 | 1.24 | DISEASES 10555 | AGPAT2 | 1.953 | DISEASES 5832 | ALDH18A1 | 2.024 | DISEASES 270 | AMPD1 | 2.923 | DISEASES 23141 | ANKLE2 | 2.698 | DISEASES 23545 | ATP6V0A2 | 1.306 | DISEASES 2683 | B4GALT1 | 1.382 | DISEASES 8703 | B4GALT3 | 2.887 | DISEASES 632 | BGLAP | 1.101 | DISEASES 650 | BMP2 | 1.531 | DISEASES 26580 | BSCL2 | 2.338 | DISEASES 1033 | CDKN3 | 2.052 | DISEASES 1041 | CDSN | 1.033 | DISEASES 1063 | CENPF | 1.465 | DISEASES 79827 | CLMP | 1.723 | DISEASES 1325 | CORT | 1.751 | DISEASES 1506 | CTRL | 1.515 | DISEASES 1736 | DKC1 | 1.021 | DISEASES 3301 | DNAJA1 | 1.529 | DISEASES 1789 | DNMT3B | 1.306 | DISEASES 84444 | DOT1L | 1.144 | DISEASES 9521 | EEF1E1 | 2.928 | DISEASES 10919 | EHMT2 | 1.016 | DISEASES 23741 | EID1 | 1.675 | DISEASES 2010 | EMD | 4.604 | DISEASES 2074 | ERCC6 | 1.744 | DISEASES 2224 | FDPS | 1.717 | DISEASES 2280 | FKBP1A | 1.097 | DISEASES 2591 | GALNT3 | 1.612 | DISEASES 85476 | GFM1 | 1.422 | DISEASES 728441 | GGT2 | 3.147 | DISEASES 92344 | GORAB | 2.179 | DISEASES 2813 | GP2 | 1.08 | DISEASES 2873 | GPS1 | 2.936 | DISEASES 3014 | H2AFX | 2.628 | DISEASES 8359 | HIST1H4A | 1.515 | DISEASES 8366 | HIST1H4B | 1.515 | DISEASES 8364 | HIST1H4C | 1.515 | DISEASES 8360 | HIST1H4D | 1.514 | DISEASES 8367 | HIST1H4E | 1.515 | DISEASES 8361 | HIST1H4F | 1.515 | DISEASES 8294 | HIST1H4I | 1.515 | DISEASES 8363 | HIST1H4J | 1.515 | DISEASES 8362 | HIST1H4K | 1.515 | DISEASES 8368 | HIST1H4L | 1.515 | DISEASES 8337 | HIST2H2AA3 | 1.398 | DISEASES 8338 | HIST2H2AC | 1.398 | DISEASES 8349 | HIST2H2BE | 1.106 | DISEASES 8370 | HIST2H4A | 1.515 | DISEASES 554313 | HIST2H4B | 1.515 | DISEASES 121504 | HIST4H4 | 1.515 | DISEASES 81502 | HM13 | 1.614 | DISEASES 3240 | HP | 1.064 | DISEASES 60495 | HPSE2 | 1.031 | DISEASES 3351 | HTR1B | 1.536 | DISEASES 23463 | ICMT | 3.564 | DISEASES 8517 | IKBKG | 1.366 | DISEASES 3621 | ING1 | 2.35 | DISEASES 10524 | KAT5 | 1.105 | DISEASES 84148 | KAT8 | 1.335 | DISEASES 9365 | KL | 2.05 | DISEASES 3836 | KPNA1 | 1.491 | DISEASES 3838 | KPNA2 | 1.437 | DISEASES 4000 | LMNA | 7.779 | DISEASES 84823 | LMNB2 | 4.087 | DISEASES 57591 | MKL1 | 1.961 | DISEASES 2475 | MTOR | 1.741 | DISEASES 93649 | MYOCD | 1.106 | DISEASES 23310 | NCAPD3 | 2.579 | DISEASES 79050 | NOC4L | 4.159 | DISEASES 7703 | PCGF2 | 2.921 | DISEASES 5116 | PCNT | 1.14 | DISEASES 5154 | PDGFA | 1.593 | DISEASES 267004 | PGBD3 | 4.072 | DISEASES 5229 | PGGT1B | 1.804 | DISEASES 87178 | PNPT1 | 2.105 | DISEASES 5420 | PODXL | 1.87 | DISEASES 5424 | POLD1 | 1.453 | DISEASES 5549 | PRELP | 1.957 | DISEASES 284119 | PTRF | 1.453 | DISEASES 5831 | PYCR1 | 2.206 | DISEASES 5902 | RANBP1 | 2.023 | DISEASES 5905 | RANGAP1 | 2.017 | DISEASES 5932 | RBBP8 | 1.37 | DISEASES 146713 | RBFOX3 | 1.027 | DISEASES 1104 | RCC1 | 1.442 | DISEASES 5981 | RFC1 | 3.24 | DISEASES 64221 | ROBO3 | 1.72 | DISEASES 6234 | RPS28 | 2.525 | DISEASES 5269 | SERPINB6 | 1.14 | DISEASES 6418 | SET | 1.391 | DISEASES 7536 | SF1 | 3.203 | DISEASES 51548 | SIRT6 | 1.684 | DISEASES 54558 | SPATA6 | 2.441 | DISEASES 6430 | SRSF5 | 1.999 | DISEASES 23353 | SUN1 | 4.705 | DISEASES 25777 | SUN2 | 3.65 | DISEASES 6839 | SUV39H1 | 2.796 | DISEASES 23224 | SYNE2 | 2.808 | DISEASES 7088 | TLE1 | 1.257 | DISEASES 7158 | TP53BP1 | 2.875 | DISEASES 7175 | TPR | 2.805 | DISEASES 1787 | TRDMT1 | 2.107 | DISEASES 51393 | TRPV2 | 1.174 | DISEASES 117581 | TWIST2 | 1.36 | DISEASES 7329 | UBE2I | 2.631 | DISEASES 56897 | WRNIP1 | 1.831 | DISEASES 7507 | XPA | 3.592 | DISEASES 7520 | XRCC5 | 1.036 | DISEASES 10269 | ZMPSTE24 | 7.244 | DISEASES 7549 | ZNF2 | 2.827 | DISEASES |
| Locus | Symbol | Locus(Total Locus:2) |
| Disease ID | 306 |
|---|---|
| Disease | hutchinson-gilford progeria syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:103) HP:0000894 | Short clavicles HP:0004322 | Short stature HP:0004931 | Arteriosclerosis of small cerebral arteries HP:0000347 | Micrognathia HP:0008151 | Prolonged prothrombin time HP:0001894 | Thrombocytosis HP:0010665 | Bilateral coxa valga HP:0001658 | Myocardial infarction HP:0001657 | Prolonged QT interval HP:0001508 | Failure to thrive HP:0004417 | Intermittent claudication HP:0005461 | Craniofacial disproportion HP:0002753 | Thin bony cortex HP:0000789 | Infertility HP:0001596 | Alopecia HP:0004492 | Widely patent fontanelles and sutures HP:0002692 | Hypoplastic facial bones HP:0006224 | Tapering pointed ends of distal finger phalanges HP:0011703 | Sinus tachycardia HP:0000520 | Proptosis HP:0001006 | Hypotrichosis HP:0000347 | Hypoplasia of mandible HP:0007485 | Absence of subcutaneous fat HP:0002164 | Nail dysplasia HP:0000233 | Thin vermilion border HP:0001084 | Corneal arcus HP:0002557 | Hypoplastic nipples HP:0000883 | Thin ribs HP:0000668 | Hypodontia HP:0000822 | Hypertension HP:0000684 | Delayed eruption of teeth HP:0002828 | Multiple joint contractures HP:0000540 | Hypermetropia HP:0001681 | Angina pectoris HP:0004325 | Decreased body weight HP:0002905 | Hyperphosphatemia HP:0001712 | Left ventricular hypertrophy HP:0008230 | Decreased testosterone in males HP:0002797 | Increased bone resorption HP:0001043 | Prominent scalp veins HP:0003355 | Aminoaciduria HP:0001397 | Hepatic steatosis HP:0001249 | Intellectual disability HP:0001596 | Hair loss HP:0003300 | Ovoid vertebral bodies HP:0001097 | Keratoconjunctivitis sicca HP:0001510 | Growth deficiency HP:0008214 | Decreased serum estradiol HP:0000956 | Acanthosis nigricans HP:0002216 | Premature graying of hair HP:0000160 | Narrow mouth HP:0000535 | Sparse eyebrow HP:0011800 | Midface, flat HP:0000961 | Cyanosis HP:0011356 | Regional abnormality of skin HP:0003115 | Abnormal EKG HP:0009906 | Aplasia/Hypoplasia of the earlobes HP:0000407 | Sensorineural hearing impairment HP:0006660 | Aplastic clavicles HP:0000966 | Hypohidrosis HP:0000939 | Osteoporosis HP:0000726 | Dementia HP:0002758 | Osteoarthritis HP:0002808 | Kyphosis HP:0000823 | Delayed puberty HP:0003016 | Metaphyseal widening HP:0002326 | Transient ischemic attack HP:0002827 | Hip dislocation HP:0000765 | Abnormality of the thorax HP:0011220 | Prominent forehead HP:0001611 | Nasal speech HP:0001297 | Stroke HP:0040160 | Generalized osteoporosis HP:0000518 | Cataract HP:0004416 | Precocious atherosclerosis HP:0005181 | Premature coronary artery disease HP:0007427 | Reticulated skin pigmentation HP:0000561 | Absent eyelashes HP:0100671 | Abnormal trabecular bone morphology HP:0000678 | Dental crowding HP:0001635 | Congestive heart failure HP:0000963 | Thin skin HP:0003335 | Low gonadotropins (secondary hypogonadism) HP:0100578 | Lipoatrophy HP:0002155 | Hypertriglyceridemia HP:0040113 | Old-aged sensorineural hearing impairment HP:0000877 | Insulin-resistant diabetes mellitus at puberty HP:0001510 | Growth delay HP:0002664 | Neoplasm HP:0000842 | Hyperinsulinemia HP:0000938 | Osteopenia HP:0100546 | Carotid artery stenosis HP:0008070 | Sparse hair HP:0011832 | Narrow nasal tip HP:0008197 | Absence of pubertal development HP:0000272 | Depressed malar region HP:0001816 | Thin nail HP:0001387 | Joint stiffness HP:0100679 | Lack of skin elasticity HP:0000400 | Macrotia HP:0001620 | High pitched voice HP:0000320 | Bird-like facies HP:0002136 | Broad-based gait |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:13) HP:0002180 | Neurodegeneration | 2 HP:0001510 | Growth deficiency | 2 HP:0001650 | Valvular aortic stenosis | 1 HP:0002621 | Atherosclerosis | 1 HP:0100324 | Progressive systemic scleroderma | 1 HP:0001297 | Cerebral vascular events | 1 HP:0000963 | Thin skin | 1 HP:0005173 | Aortic stenosis due to calcifications | 1 HP:0002797 | Increased bone resorption | 1 HP:0008850 | Marked growth retardation | 1 HP:0001508 | Weight faltering | 1 HP:0100033 | Tic disorder | 1 HP:0003287 | Abnormality of mitochondrial metabolism | 1 |
| Disease ID | 306 |
|---|---|
| Disease | hutchinson-gilford progeria syndrome |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:2) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:1) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:44) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs113436208 | NA | 4000 | LMNA | umls:C0033300 | CLINVAR | NA | 0.627165321 | NA | LMNA | 1 | 156138758 | G | A,C |
| rs113860699 | NA | 4000 | LMNA | umls:C0033300 | CLINVAR | NA | 0.627165321 | NA | LMNA | 1 | 156138759 | T | A,C,G |
| rs11575937 | 16440304 | 4000 | LMNA | umls:C0033300 | BeFree | The mutant constructs used included the laminopathy-inducing lamin A rod domain mutants N195K, E358K, M371K, R386K, the tail domain mutants G465D, R482L, and R527P, and the Hutchinson-Gilford progeria syndrome-causing deletion mutant, progerin (LaA delta50). | 0.627165321 | 2006 | LMNA | 1 | 156136985 | G | A,T |
| rs121913049 | 20221251 | 2072 | ERCC4 | umls:C0033300 | BeFree | In an attempt to determine how mutations in XPF can lead to such diverse symptoms, the effects of a progeria-causing mutation (XPF(R153P)) were compared to an XP-causing mutation (XPF(R799W)) in vitro and in vivo. | 0.000814326 | 2010 | ERCC4 | 16 | 13947991 | C | T |
| rs121913050 | 20221251 | 2072 | ERCC4 | umls:C0033300 | BeFree | In an attempt to determine how mutations in XPF can lead to such diverse symptoms, the effects of a progeria-causing mutation (XPF(R153P)) were compared to an XP-causing mutation (XPF(R799W)) in vitro and in vivo. | 0.000814326 | 2010 | ERCC4;LOC105371093 | 16 | 13926630 | G | A,C |
| rs150840924 | NA | 4000 | LMNA | umls:C0033300 | CLINVAR | NA | 0.627165321 | NA | LMNA | 1 | 156136359 | C | T |
| rs267607545 | 16772334 | 4000 | LMNA | umls:C0033300 | BeFree | The inner nuclear membrane protein emerin was mislocalised upon expression of the muscular dystrophy mutants G232E, Q294P or R386K, which aberrantly assembled into nuclear aggregates, or upon expression of mutants causing progeria syndromes in vivo (lamin A del50, R471C, R527C and L530P). | 0.627165321 | 2006 | LMNA | 1 | 156136121 | G | A,T |
| rs267607545 | 16440304 | 4000 | LMNA | umls:C0033300 | BeFree | The mutant constructs used included the laminopathy-inducing lamin A rod domain mutants N195K, E358K, M371K, R386K, the tail domain mutants G465D, R482L, and R527P, and the Hutchinson-Gilford progeria syndrome-causing deletion mutant, progerin (LaA delta50). | 0.627165321 | 2006 | LMNA | 1 | 156136121 | G | A,T |
| rs267607547 | NA | 4000 | LMNA | umls:C0033300 | CLINVAR | NA | 0.627165321 | NA | LMNA | 1 | 156137664 | T | C |
| rs267607620 | 24861648 | 4000 | LMNA | umls:C0033300 | BeFree | p.Pro4Arg mutation in LMNA gene: a new atypical progeria phenotype without metabolism abnormalities. | 0.627165321 | 2014 | LMNA | 1 | 156114929 | C | G |
| rs28928902 | 12768443 | 4000 | LMNA | umls:C0033300 | UNIPROT | LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090). | 0.627165321 | 2003 | LMNA | 1 | 156136951 | C | G,T |
| rs28928902 | 16772334 | 4000 | LMNA | umls:C0033300 | BeFree | The inner nuclear membrane protein emerin was mislocalised upon expression of the muscular dystrophy mutants G232E, Q294P or R386K, which aberrantly assembled into nuclear aggregates, or upon expression of mutants causing progeria syndromes in vivo (lamin A del50, R471C, R527C and L530P). | 0.627165321 | 2006 | LMNA | 1 | 156136951 | C | G,T |
| rs28933091 | 16440304 | 4000 | LMNA | umls:C0033300 | BeFree | The mutant constructs used included the laminopathy-inducing lamin A rod domain mutants N195K, E358K, M371K, R386K, the tail domain mutants G465D, R482L, and R527P, and the Hutchinson-Gilford progeria syndrome-causing deletion mutant, progerin (LaA delta50). | 0.627165321 | 2006 | LMNA | 1 | 156134474 | C | A,G |
| rs57207746 | 16772334 | 4000 | LMNA | umls:C0033300 | BeFree | The inner nuclear membrane protein emerin was mislocalised upon expression of the muscular dystrophy mutants G232E, Q294P or R386K, which aberrantly assembled into nuclear aggregates, or upon expression of mutants causing progeria syndromes in vivo (lamin A del50, R471C, R527C and L530P). | 0.627165321 | 2006 | LMNA | 1 | 156134860 | G | A |
| rs57318642 | 19432833 | 4000 | LMNA | umls:C0033300 | BeFree | Homozygous LMNA mutation R527C in atypical Hutchinson-Gilford progeria syndrome: evidence for autosomal recessive inheritance. | 0.627165321 | 2009 | LMNA | 1 | 156137203 | C | T |
| rs57318642 | NA | 4000 | LMNA | umls:C0033300 | CLINVAR | NA | 0.627165321 | NA | LMNA | 1 | 156137203 | C | T |
| rs57318642 | 16772334 | 4000 | LMNA | umls:C0033300 | BeFree | The inner nuclear membrane protein emerin was mislocalised upon expression of the muscular dystrophy mutants G232E, Q294P or R386K, which aberrantly assembled into nuclear aggregates, or upon expression of mutants causing progeria syndromes in vivo (lamin A del50, R471C, R527C and L530P). | 0.627165321 | 2006 | LMNA | 1 | 156137203 | C | T |
| rs57520892 | 16440304 | 4000 | LMNA | umls:C0033300 | BeFree | The mutant constructs used included the laminopathy-inducing lamin A rod domain mutants N195K, E358K, M371K, R386K, the tail domain mutants G465D, R482L, and R527P, and the Hutchinson-Gilford progeria syndrome-causing deletion mutant, progerin (LaA delta50). | 0.627165321 | 2006 | LMNA | 1 | 156137204 | G | A,C |
| rs57920071 | 21993218 | 6720 | SREBF1 | umls:C0033300 | BeFree | In addition, the tail regions of A-type lamin variants that occur in Dunnigan-type familial partial lipodystrophy of (R482W) and Hutchison Gilford progeria syndrome (∆607-656) bind to the SREBP1 polypeptide in vitro, and the corresponding FLAG-tagged full-length lamin variants co-immunoprecipitate the SREBP1 polypeptide in cells. | 0.000271442 | 2011 | LMNA | 1 | 156136984 | C | T |
| rs57920071 | 21993218 | 4000 | LMNA | umls:C0033300 | BeFree | In addition, the tail regions of A-type lamin variants that occur in Dunnigan-type familial partial lipodystrophy of (R482W) and Hutchison Gilford progeria syndrome (∆607-656) bind to the SREBP1 polypeptide in vitro, and the corresponding FLAG-tagged full-length lamin variants co-immunoprecipitate the SREBP1 polypeptide in cells. | 0.627165321 | 2011 | LMNA | 1 | 156136984 | C | T |
| rs58596362 | NA | 4000 | LMNA | umls:C0033300 | CLINVAR | NA | 0.627165321 | NA | LMNA | 1 | 156138613 | C | T |
| rs58596362 | 25216752 | 4000 | LMNA | umls:C0033300 | BeFree | A silent point mutation at position 1824 (C1824T) of the LMNA gene, generating a truncated form of lamin A (progerin), has been shown to be the cause of most cases of HGPS. | 0.627165321 | 2014 | LMNA | 1 | 156138613 | C | T |
| rs58596362 | 22893709 | 4000 | LMNA | umls:C0033300 | BeFree | In this study, we describe the development of a tissue-specific mouse model that overexpresses the most common HGPS mutation (LMNA, c.1824C>T, p.G608G) in osteoblasts. | 0.627165321 | 2012 | LMNA | 1 | 156138613 | C | T |
| rs58596362 | 22079058 | 4000 | LMNA | umls:C0033300 | BeFree | The most prevalent mutation in Hutchinson-Gilford syndrome is C1824T, which activates a cryptic splice donor site to produce an abnormal lamin A protein. | 0.627165321 | 2012 | LMNA | 1 | 156138613 | C | T |
| rs58912633 | 15622532 | 4000 | LMNA | umls:C0033300 | UNIPROT | p.S143F mutation in lamin A/C: a new phenotype combining myopathy and progeria. | 0.627165321 | 2005 | LMNA | 1 | 156130688 | C | T |
| rs58912633 | 15622532 | 4000 | LMNA | umls:C0033300 | BeFree | p.S143F mutation in lamin A/C: a new phenotype combining myopathy and progeria. | 0.627165321 | 2005 | LMNA | 1 | 156130688 | C | T |
| rs58912633 | 17881656 | 4000 | LMNA | umls:C0033300 | BeFree | The S143F lamin A/C point mutation causes a phenotype combining features of myopathy and progeria. | 0.627165321 | 2007 | LMNA | 1 | 156130688 | C | T |
| rs58912633 | 25738644 | 4000 | LMNA | umls:C0033300 | BeFree | We have carried out an analysis of the structural and functional consequences of progeria-associated nuclear blebs in dermal fibroblasts from a progeria patient carrying a rare point mutation p.S143F (C428T) in lamin A/C. | 0.627165321 | 2015 | LMNA | 1 | 156130688 | C | T |
| rs59267781 | NA | 4000 | LMNA | umls:C0033300 | CLINVAR | NA | 0.627165321 | NA | LMNA | 1 | 156138657 | C | G |
| rs59653062 | 16440304 | 4000 | LMNA | umls:C0033300 | BeFree | The mutant constructs used included the laminopathy-inducing lamin A rod domain mutants N195K, E358K, M371K, R386K, the tail domain mutants G465D, R482L, and R527P, and the Hutchinson-Gilford progeria syndrome-causing deletion mutant, progerin (LaA delta50). | 0.627165321 | 2006 | LMNA | 1 | 156136076 | T | A |
| rs59886214 | NA | 4000 | LMNA | umls:C0033300 | CLINVAR | NA | 0.627165321 | NA | LMNA | 1 | 156138610 | G | A |
| rs60310264 | 21941106 | 4000 | LMNA | umls:C0033300 | BeFree | Amphibian oocyte nuclei expressing lamin A with the progeria mutation E145K exhibit an increased elastic modulus. | 0.627165321 | 2011 | LMNA | 1 | 156130693 | G | A |
| rs60310264 | 12714972 | 4000 | LMNA | umls:C0033300 | UNIPROT | Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome. | 0.627165321 | 2003 | LMNA | 1 | 156130693 | G | A |
| rs60310264 | NA | 4000 | LMNA | umls:C0033300 | CLINVAR | NA | 0.627165321 | NA | LMNA | 1 | 156130693 | G | A |
| rs60458016 | 16440304 | 4000 | LMNA | umls:C0033300 | BeFree | The mutant constructs used included the laminopathy-inducing lamin A rod domain mutants N195K, E358K, M371K, R386K, the tail domain mutants G465D, R482L, and R527P, and the Hutchinson-Gilford progeria syndrome-causing deletion mutant, progerin (LaA delta50). | 0.627165321 | 2006 | LMNA | 1 | 156136036 | G | A,T |
| rs60652225 | 12927431 | 4000 | LMNA | umls:C0033300 | UNIPROT | LMNA mutations in atypical Werner's syndrome. | 0.627165321 | 2003 | LMNA | 1 | 156130679 | T | C,G |
| rs60934003 | 16772334 | 4000 | LMNA | umls:C0033300 | BeFree | The inner nuclear membrane protein emerin was mislocalised upon expression of the muscular dystrophy mutants G232E, Q294P or R386K, which aberrantly assembled into nuclear aggregates, or upon expression of mutants causing progeria syndromes in vivo (lamin A del50, R471C, R527C and L530P). | 0.627165321 | 2006 | LMNA | 1 | 156137213 | T | C |
| rs61064130 | NA | 4000 | LMNA | umls:C0033300 | CLINVAR | NA | 0.627165321 | NA | LMNA | 1 | 156138611 | G | A |
| rs61282106 | 16440304 | 4000 | LMNA | umls:C0033300 | BeFree | The mutant constructs used included the laminopathy-inducing lamin A rod domain mutants N195K, E358K, M371K, R386K, the tail domain mutants G465D, R482L, and R527P, and the Hutchinson-Gilford progeria syndrome-causing deletion mutant, progerin (LaA delta50). | 0.627165321 | 2006 | LMNA | 1 | 156136934 | G | A |
| rs61616775 | 16772334 | 4000 | LMNA | umls:C0033300 | BeFree | The inner nuclear membrane protein emerin was mislocalised upon expression of the muscular dystrophy mutants G232E, Q294P or R386K, which aberrantly assembled into nuclear aggregates, or upon expression of mutants causing progeria syndromes in vivo (lamin A del50, R471C, R527C and L530P). | 0.627165321 | 2006 | LMNA | 1 | 156135257 | A | C |
| rs797044485 | NA | 4000 | LMNA | umls:C0033300 | CLINVAR | NA | 0.627165321 | NA | LMNA | 1 | 156134832 | G | A |
| rs797044486 | NA | 4000 | LMNA | umls:C0033300 | CLINVAR | NA | 0.627165321 | NA | LMNA | 1 | 156138560 | T | A |
| rs797044487 | NA | 4000 | LMNA | umls:C0033300 | CLINVAR | NA | 0.627165321 | NA | LMNA | 1 | 156138757 | G | A |
| rs797044488 | NA | 4000 | LMNA | umls:C0033300 | CLINVAR | NA | 0.627165321 | NA | LMNA | 1 | 156138762 | G | A,C |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:29) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0040160 | Generalized osteoporosis | MP:0000066 | osteoporosis | reduction in bone mass or atrophy of skeletal tissue; may lead to skeletal fragility |
| HP:0001508 | Failure to thrive | MP:0013294 | prenatal lethality prior to heart atrial septation | death prior to the completion of heart atrial septation (Mus: E14.5-15.5) |
| HP:0002753 | Thin bony cortex | MP:0009969 | abnormal cerebral cortex pyramidal cell morphology | any structural anomaly of the projection neurons in the pyramidal cell layer of the cerebral cortex |
| HP:0000160 | Narrow mouth | MP:0000452 | abnormal mouth morphology | any structural anomaly of the oral cavity |
| HP:0008070 | Sparse hair | MP:0010202 | focal dorsal hair loss | focal hair loss on the dorsal area of a rodent resulting in dorsal skin visible in a patch where hair loss occurs |
| HP:0001387 | Joint stiffness | MP:0003098 | decreased tendon stiffness | reduced ability of tendon to maintain tensile strength and load |
| HP:0008230 | Decreased testosterone in males | MP:0002780 | decreased circulating testosterone level | reduction in the blood concentration of a potent androgen that promotes development of male secondary sex characteristics and the development of spermatozoa and may regulate sexual desire and help maintain bone and muscle health in both males and females |
| HP:0007427 | Reticulated skin pigmentation | MP:0002060 | abnormal skin morphology | any structural anomaly of the membranous protective covering of the body |
| HP:0011800 | Hypoplasia of midface | MP:0020010 | decreased bone mineral density of femur | reduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh |
| HP:0000963 | Thin skin | MP:0010678 | abnormal skin adnexa morphology | any structural anomaly of the tissue or structures associated with or embedded in the skin such as hair and hair follicles, sweat glands, sebaceous glands and claws or nails |
| HP:0100671 | Abnormal trabecular bone morphology | MP:0010878 | increased trabecular bone volume | increase in the amount of space occupied by trabecular bone tissue in the skeleton |
| HP:0040113 | Old-aged sensorineural hearing impairment | MP:0006325 | impaired hearing | reduced ability to perceive auditory stimuli |
| HP:0000407 | Sensorineural hearing impairment | MP:0006330 | syndromic hearing impairment | hearing impairment that is usually associated with malformations of the external ear and other inherited signs and symptoms |
| HP:0000765 | Abnormality of the thorax | MP:0013620 | increased internal diameter of femur | increased cross-sectional distance that extends from one lateral edge of the femur long bone marrow cavity, through its center and to the opposite lateral edge of the bone marrow cavity through the mid point of the femur |
| HP:0000883 | Thin ribs | MP:0004674 | thin ribs | a more slender appearance of the bones forming the bony wall of the chest |
| HP:0100679 | Lack of skin elasticity | MP:0010919 | increased number of pulmonary neuroendocrine bodies | greater number of the corpuscular, organoid structures composed of PNECs, found as distinctive innervated clusters only within intrapulmonary airways, where they appear concentrated at airway branch points; NEBs reach from the basement membrane to the air |
| HP:0001712 | Left ventricular hypertrophy | MP:0010402 | ventricular septal defect | abnormal communications between the two lower chambers of the heart, including such defects in the perimembranous, inlet, outlet (infundibular), central muscular, marginal muscular, or apical muscular regions |
| HP:0001657 | Prolonged QT interval | MP:0003900 | shortened QT interval | decrease in the length of time required for ventricular depolarization and repolarization to occur, usually as a result of increased repolarization time, and is measured from the beginning of the QRS complex to the end of the T wave |
| HP:0009906 | Aplasia/Hypoplasia of the earlobes | MP:0012167 | abnormal epigenetic regulation of gene expression | any anomaly in the process that modulates the frequency, rate or extent of gene expression, in which the process is mitotically or meiotically heritable, or is stably self-propagated in the cytoplasm of a resting cell, and does not entail a change in DNA |
| HP:0000684 | Delayed eruption of teeth | MP:0020010 | decreased bone mineral density of femur | reduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh |
| HP:0001635 | Congestive heart failure | MP:0011925 | abnormal heart echocardiography feature | any anomaly in echocardiographic representation of systolic and diastolic function, ventricular compliance, valvular function, or interventricular septum features |
| HP:0002136 | Broad-based gait | MP:0001406 | abnormal gait | abnormal pattern of movement of the limbs of animals, characterized by elements of progression, stability, speed and length over the ground |
| HP:0002216 | Premature graying of hair | MP:0009657 | failure of chorioallantoic fusion | failure to initiate and/or complete the formation of a highly vascularized extra-embryonic fetal membrane by fusion of the chorion and allantois |
| HP:0007485 | Absence of subcutaneous fat | MP:0009536 | abnormal interstitial cell of Cajal morphology | any structural anomaly in the type of cell found in the gastrointestinal tract and serving as a pacemaker that triggers gut contraction; ICCs mediate inputs from the enteric nervous system to smooth muscle cells and are thought to be the cells from which |
| HP:0008151 | Prolonged prothrombin time | MP:0005606 | increased bleeding time | greater than the normal duration of blood flow after skin puncture; indicative of platelet and capillary function |
| HP:0004325 | Decreased body weight | MP:0010239 | decreased skeletal muscle weight | less than average skeletal muscle weight |
| HP:0008197 | Absence of pubertal development | MP:0013351 | abnormal Rathke's pouch development | any anomaly in the formation of the pouch of ectoderm which grows out from the upper surface of the embryonic stomodeum and gives rise to the anterior and intermediate lobes of the pituitary gland |
| HP:0003300 | Ovoid vertebral bodies | MP:0004704 | short vertebral column | decreased rostral-caudal length of the complete structure forming the rostral-caudal axis of the skeleton formed from the alternating segments of vertebra and intervertebral discs which support the spinal cord |
| HP:0002692 | Hypoplastic facial bones | MP:0004686 | decreased length of long bones | reduced end-to-end length of the several elongated bones of the extremities |
Mapped by homologous gene(Total Items:95) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0003115 | Abnormal EKG | MP:0013504 | increased embryonic tissue cell apoptosis | increase in the timing or the number of cells in embryonic tissue undergoing programmed cell death |
| HP:0002758 | Osteoarthritis | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000320 | Bird-like facies | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002557 | Hypoplastic nipples | MP:0013785 | abnormal mammary gland bud morphology | any structural anomaly of the morphologically distinct bulb of epithelial cells formed once each mammary placode expands and invaginates into the underlying mesenchyme; in mouse embryos at E12.5, each epithelial bud with its contiguous mesenchyme is eleva |
| HP:0001712 | Left ventricular hypertrophy | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002216 | Premature graying of hair | MP:0014164 | abnormal ciliary process morphology | any structural anomaly of any of the pigmented processes that radiate from the ciliary muscle and give attachments to ligaments supporting the lens of the eye; these processes increase in thickness as they advance from the orbiculus ciliaris to the exter |
| HP:0000347 | Micrognathia | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0100679 | Lack of skin elasticity | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001508 | Failure to thrive | MP:0020234 | decreased basal metabolism | decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state |
| HP:0000518 | Cataract | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0003355 | Aminoaciduria | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001297 | Stroke | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000966 | Hypohidrosis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000883 | Thin ribs | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000160 | Narrow mouth | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0007427 | Reticulated skin pigmentation | MP:0013501 | increased fibroblast apoptosis | increase in the timing or the number of fibroblast cells undergoing programmed cell death |
| HP:0100578 | Lipoatrophy | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000823 | Delayed puberty | MP:0020087 | increased susceptibility to non-insulin-dependent diabetes | increased likelihood to develop non-insulin-dependent diabetes |
| HP:0002753 | Thin bony cortex | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0011356 | Regional abnormality of skin | MP:0012307 | impaired spatial learning | impaired ability to ascertain or acquire spatial location information in order to improve navigation or other behavior using such location cues |
| HP:0011220 | Prominent forehead | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0000684 | Delayed eruption of teeth | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0007485 | Absence of subcutaneous fat | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001084 | Corneal arcus | MP:0011108 | embryonic lethality during organogenesis, incomplete penetrance | the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between embryo turning and the completion of organogenesis (Mus: E9-9.5 to less than E14) |
| HP:0001635 | Congestive heart failure | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000877 | Insulin-resistant diabetes mellitus at puberty | MP:0014169 | decreased brown adipose tissue mass | decreased physical bulk or volume of brown adipose tissue |
| HP:0000272 | Malar flattening | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000400 | Macrotia | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0008070 | Sparse hair | MP:0014179 | abnormal blood-retinal barrier function | anomaly in the function of the part of the blood-ocular barrier that consists of cells that are joined tightly together to prevent certain substances from entering the tissue of the retina; the BRB consists of non-fenestrated capillaries of the retinal ci |
| HP:0002808 | Kyphosis | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001681 | Angina pectoris | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001596 | Alopecia | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0002664 | Neoplasm | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0000789 | Infertility | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001006 | Hypotrichosis | MP:0014082 | decreased small intestinal villus height | decreased height of the tiny hair-like projections which protrude from the inside of the small intestine and contain blood vessels that capture digested nutrients that are absorbed through the intestinal wall; usually accompanied by crypt elongation or hy |
| HP:0002164 | Nail dysplasia | MP:0014175 | abnormal ciliary epithelium morphology | any structural anomaly of the double layer lining the inner surfaces of the ciliary processes and the pars plana (i.e. the posterior portion of the ciliary body, aka orbicularis ciliari); the outer layer is the pigmented epithelium, which is composed of l |
| HP:0004416 | Precocious atherosclerosis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002905 | Hyperphosphatemia | MP:0020214 | susceptible to malignant hyperthermia | increased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine |
| HP:0000561 | Absent eyelashes | MP:0013696 | increased granulocyte monocyte progenitor cell number | increase in the number of a hematopoietic progenitor cell that is committed to the granulocyte and monocyte lineages; these cells are CD123-positive, and do not express Gata1 or Gata2 but do express C/EBPa, and Pu.1 |
| HP:0002827 | Hip dislocation | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0004325 | Decreased body weight | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0100671 | Abnormal trabecular bone morphology | MP:0010967 | increased compact bone area | increase in the total amount of cross-sectional area of compact bone tissue |
| HP:0003300 | Ovoid vertebral bodies | MP:0014185 | cerebellum atrophy | acquired diminution of the size of the cerebellum associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal |
| HP:0008151 | Prolonged prothrombin time | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0003335 | Low gonadotropins (secondary hypogonadism) | MP:0013603 | abnormal fetal Leydig cell differentiation | atypical formation of or inability to produce the first or fetal population of Leydig cells (FLCs); in mice, FLCs arise in the testicular interstitium between E12.5 and E13.0, approximately 1 day after the appearance of Sertoli cells; Sertoli cells trigge |
| HP:0005181 | Premature coronary artery disease | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000233 | Thin vermilion border | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001611 | Nasal speech | MP:0020040 | decreased bone ossification | decrease in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0001387 | Joint stiffness | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001894 | Thrombocytosis | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0000961 | Cyanosis | MP:0013781 | abnormal mammary gland luminal epithelium morphology | any structural anomaly of the inner cell layer of the mammary epithelium bilayer that lines the luminal surface of mammary gland ducts and alveoli; luminal cells have only limited contact with the underlying basement membrane and surrounding connective ti |
| HP:0001816 | Thin nail | MP:0012720 | elongated neck | increased length of the neck |
| HP:0006224 | Tapering pointed ends of distal finger phalanges | MP:0009142 | decreased prepulse inhibition | decrease in the ability of a relatively mild stimulus to suppress the response to a strong, startle-eliciting stimulus |
| HP:0002326 | Transient ischemic attack | MP:0013696 | increased granulocyte monocyte progenitor cell number | increase in the number of a hematopoietic progenitor cell that is committed to the granulocyte and monocyte lineages; these cells are CD123-positive, and do not express Gata1 or Gata2 but do express C/EBPa, and Pu.1 |
| HP:0006660 | Aplastic clavicles | MP:0020010 | decreased bone mineral density of femur | reduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh |
| HP:0009906 | Aplasia/Hypoplasia of the earlobes | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0000540 | Hypermetropia | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0001620 | High pitched voice | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001097 | Keratoconjunctivitis sicca | MP:0013378 | increased sebocyte number | greater than expected number of the highly specialized, sebum-producing epithelial cells of the sebaceous glands that release their content by rupture of the cell membrane and cellular degradation |
| HP:0000407 | Sensorineural hearing impairment | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0002828 | Multiple joint contractures | MP:0013293 | embryonic lethality prior to tooth bud stage | death prior to the appearance of tooth buds (Mus: E12-E12.5) |
| HP:0000894 | Short clavicles | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000939 | Osteoporosis | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000938 | Osteopenia | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000765 | Abnormality of the thorax | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0008197 | Absence of pubertal development | MP:0014198 | absent pituitary infundibular stalk | absence of the apical portion of the tubular structure extending from the hypothalamus to the posterior lobe of the pituitary gland |
| HP:0000520 | Proptosis | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0001249 | Intellectual disability | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0040160 | Generalized osteoporosis | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000822 | Hypertension | MP:0020216 | decreased circulating complement protein level | less than normal levels of the serum proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes |
| HP:0002136 | Broad-based gait | MP:0013787 | photophobia | abnormal aversion or avoidance behavior in response to light; photophobia is symptom of abnormal intolerance to visual perception of light; as a medical symptom, photophobia is not a morbid fear or phobia, but an experience of discomfort or pain to the e |
| HP:0003016 | Metaphyseal widening | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002692 | Hypoplastic facial bones | MP:0010933 | decreased trabecular bone connectivity density | reduction in the extent of attachments between trabeculae; it may be expressed in ratios of nodes to free ends, trabecular bone pattern factor, and related measures |
| HP:0004417 | Intermittent claudication | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0001657 | Prolonged QT interval | MP:0020234 | decreased basal metabolism | decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state |
| HP:0008230 | Decreased testosterone in males | MP:0013737 | small bulbourethral gland | reduced size of either of the small paired racemose (compound tubulo-alveolar) glands below the apex of the prostate in males, located posterolateral to the membranous portion of the urethra at the base of the penis, between the two layers of the fascia o |
| HP:0004322 | Short stature | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0000535 | Sparse eyebrow | MP:0014185 | cerebellum atrophy | acquired diminution of the size of the cerebellum associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal |
| HP:0002797 | Osteolysis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001510 | Growth delay | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0000956 | Acanthosis nigricans | MP:0020234 | decreased basal metabolism | decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state |
| HP:0040113 | Old-aged sensorineural hearing impairment | MP:0014155 | absent olfactory epithelium | absence of the epithelial cells that line the interior of the nose |
| HP:0000963 | Thin skin | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002155 | Hypertriglyceridemia | MP:0020234 | decreased basal metabolism | decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state |
| HP:0010665 | Bilateral coxa valga | MP:0011143 | thick lung-associated mesenchyme | increased thickness of the mesenchymal cell layer due to delay or failure of the mesenchymal compartment to thin down during the late stages of embryonic lung development |
| HP:0001043 | Prominent scalp veins | MP:0013258 | abnormal extracellular matrix morphology | any structural anomaly of the structure lying external to one or more cells, which provides structural support for cells or tissues; in mammals, the extracellular matrix is completely external to the cell |
| HP:0001658 | Myocardial infarction | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001397 | Hepatic steatosis | MP:0020234 | decreased basal metabolism | decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state |
| HP:0000726 | Dementia | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000842 | Hyperinsulinemia | MP:0020234 | decreased basal metabolism | decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state |
| HP:0000678 | Dental crowding | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0004492 | Widely patent fontanelles and sutures | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0011800 | Hypoplasia of midface | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0004931 | Arteriosclerosis of small cerebral arteries | MP:0010875 | increased bone volume | increased amount of space occupied by bone tissue in the skeleton |
| HP:0000668 | Hypodontia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| Disease ID | 306 |
|---|---|
| Disease | hutchinson-gilford progeria syndrome |
| Case | (Waiting for update.) |