eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| cutis laxa | ||||
| Disease ID | 683 |
|---|---|
| Disease | cutis laxa |
| Definition | A group of connective tissue diseases in which skin hangs in loose pendulous folds. It is believed to be associated with decreased elastic tissue formation as well as an abnormality in elastin formation. Cutis laxa is usually a genetic disease, but acquired cases have been reported. (From Dorland, 27th ed) |
| Synonym | chalastodermia chalazoderma chalazodermia cutis laxa (disorder) cutis laxa [disease/finding] cutis laxa, nos dermatochalasia dermatochalasis dermatochalazia dermatolyses dermatolysis dermatolysis, nos dermatomegaly elastolysis generalised dermatochalasis generalized dermatochalasis generalized elastolysis inelastic skin lax skin loose skin looses skin primary elastolysis skin laxity |
| Orphanet | |
| DOID | |
| UMLS | C0010495 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:30) C0026764 | multiple myeloma | 4 C0013990 | emphysema | 3 C0026764 | myeloma | 3 C0034067 | pulmonary emphysema | 2 C0003486 | aortic aneurysms | 2 C0003486 | aortic aneurysm | 2 C1136084 | plasma cell dyscrasia | 1 C1136033 | cutaneous mastocytosis | 1 C0587248 | costello syndrome | 1 C0007766 | intracranial aneurysms | 1 C1136085 | monoclonal gammopathy | 1 C0019291 | hiatus hernia | 1 C0033847 | pseudoxanthoma elasticum | 1 C0002726 | amyloidosis | 1 C0011615 | atopic dermatitis | 1 C0032290 | aspiration pneumonia | 1 C0007766 | cranial aneurysm | 1 C0032285 | pneumonia | 1 C0007766 | intracranial aneurysm | 1 C0162872 | thoracic aortic aneurysms | 1 C0015464 | facial palsy | 1 C0598608 | hyperhomocysteinemia | 1 C0878693 | conjunctivochalasis | 1 C0029434 | osteogenesis imperfecta | 1 C0019291 | hiatal hernia | 1 C0162872 | thoracic aortic aneurysm | 1 C0037274 | dermatosis | 1 C0013592 | ectropion | 1 C0004943 | behcet's disease | 1 C0019202 | wilson's disease | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:8) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:36) 5832 | ALDH18A1 | 5.831 | DISEASES 85365 | ALG2 | 4.31 | DISEASES 9181 | ARHGEF2 | 2.412 | DISEASES 23545 | ATP6V0A2 | 6.295 | DISEASES 538 | ATP7A | 2.065 | DISEASES 126792 | B3GALT6 | 2.972 | DISEASES 9334 | B4GALT5 | 1.022 | DISEASES 1235 | CCR6 | 2.347 | DISEASES 387836 | CLEC2A | 1.434 | DISEASES 1301 | COL11A1 | 2.414 | DISEASES 1892 | ECHS1 | 2.215 | DISEASES 2202 | EFEMP1 | 2.409 | DISEASES 10516 | FBLN5 | 6.608 | DISEASES 2200 | FBN1 | 4.203 | DISEASES 2591 | GALNT3 | 1.052 | DISEASES 92344 | GORAB | 6.183 | DISEASES 2934 | GSN | 5.048 | DISEASES 3638 | INSIG1 | 1.625 | DISEASES 3745 | KCNB1 | 1.631 | DISEASES 54900 | LAX1 | 5.686 | DISEASES 987 | LRBA | 1.197 | DISEASES 25834 | MGAT4C | 1.609 | DISEASES 64324 | NSD1 | 1.438 | DISEASES 5696 | PSMB8 | 1.309 | DISEASES 5831 | PYCR1 | 6.208 | DISEASES 29920 | PYCR2 | 3.31 | DISEASES 6005 | RHAG | 1.307 | DISEASES 5265 | SERPINA1 | 1.88 | DISEASES 1992 | SERPINB1 | 1.334 | DISEASES 8036 | SHOC2 | 1.996 | DISEASES 81031 | SLC2A10 | 2.46 | DISEASES 6520 | SLC3A2 | 2.022 | DISEASES 6888 | TALDO1 | 4.414 | DISEASES 7018 | TF | 2.407 | DISEASES 79001 | VKORC1 | 1.472 | DISEASES 84627 | ZNF469 | 2.217 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 683 |
|---|---|
| Disease | cutis laxa |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:73) HP:0001025 | Urticaria HP:0000160 | Narrow mouth HP:0000262 | Turricephaly HP:0000470 | Short neck HP:0000670 | Carious teeth HP:0001116 | Macular coloboma HP:0001263 | Global developmental delay HP:0001357 | Plagiocephaly HP:0000768 | Pectus carinatum HP:0000239 | Large fontanelles HP:0001650 | Aortic valve stenosis HP:0002110 | Bronchiectasis HP:0001629 | Ventricular septal defect HP:0001654 | Abnormality of the heart valves HP:0003196 | Short nose HP:0000072 | Hydroureter HP:0004322 | Short stature HP:0000474 | Thickened nuchal skin fold HP:0001373 | Joint dislocation HP:0007495 | Prematurely aged appearance HP:0000366 | Abnormality of the nose HP:0000767 | Pectus excavatum HP:0000010 | Recurrent urinary tract infections HP:0000508 | Ptosis HP:0001631 | Atrial septal defect HP:0010295 | Aplasia/Hypoplasia of the tongue HP:0002205 | Recurrent respiratory infections HP:0001635 | Congestive heart failure HP:0005222 | Bowel diverticulosis HP:0010783 | Erythema HP:0007392 | Excessive wrinkled skin HP:0000347 | Micrognathia HP:0000506 | Telecanthus HP:0000369 | Low-set ears HP:0002097 | Emphysema HP:0100628 | Esophageal diverticulum HP:0000316 | Hypertelorism HP:0000343 | Long philtrum HP:0001643 | Patent ductus arteriosus HP:0010318 | Aplasia/Hypoplasia of the abdominal wall musculature HP:0001511 | Intrauterine growth retardation HP:0008066 | Abnormal blistering of the skin HP:0000076 | Vesicoureteral reflux HP:0001510 | Growth delay HP:0000494 | Downslanted palpebral fissures HP:0002024 | Malabsorption HP:0000286 | Epicanthus HP:0000457 | Depressed nasal ridge HP:0002093 | Respiratory insufficiency HP:0002607 | Bowel incontinence HP:0011800 | Midface retrusion HP:0100823 | Genital hernia HP:0002650 | Scoliosis HP:0000951 | Abnormality of the skin HP:0003272 | Abnormality of the hip bone HP:0007703 | Abnormality of retinal pigmentation HP:0000023 | Inguinal hernia HP:0001939 | Abnormality of metabolism/homeostasis HP:0011220 | Prominent forehead HP:0001974 | Leukocytosis HP:0004326 | Cachexia HP:0001363 | Craniosynostosis HP:0001324 | Muscle weakness HP:0001582 | Redundant skin HP:0100777 | Exostoses HP:0000463 | Anteverted nares HP:0100679 | Lack of skin elasticity HP:0000964 | Eczema HP:0000174 | Abnormality of the palate HP:0001252 | Muscular hypotonia HP:0000238 | Hydrocephalus HP:0004397 | Ectopic anus HP:0000821 | Hypothyroidism |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:28) HP:0006775 | Multiple myeloma | 4 HP:0002097 | Pulmonary emphysema | 4 HP:0002617 | Aneurysmal dilatation | 3 HP:0001582 | Loose redundant skin | 2 HP:0004942 | Aortic aneurysm | 2 HP:0007957 | Corneal clouding | 1 HP:0200151 | Cutaneous mastocytosis | 1 HP:0430025 | Bilateral facial paralysis | 1 HP:0004944 | Cerebral artery aneurysm | 1 HP:0012727 | Thoracic aortic aneurysm | 1 HP:0002036 | Hiatus hernia | 1 HP:0001047 | Atopic dermatitis | 1 HP:0004415 | Pulmonary artery stenosis | 1 HP:0100790 | Hernia | 1 HP:0100695 | Lipedema | 1 HP:0001518 | Small for gestational age | 1 HP:0000078 | Genital abnormalities | 1 HP:0000621 | Eyelid turned in | 1 HP:0010783 | Erythema | 1 HP:0002090 | Pneumonia | 1 HP:0002835 | Aspiration | 1 HP:0011951 | Aspiration pneumonia | 1 HP:0003758 | Reduced subcutaneous fat | 1 HP:0000656 | Ectropion | 1 HP:0001388 | Joint laxity | 1 HP:0002100 | Recurrent aspiration pneumonia | 1 HP:0010628 | Facial palsy, unilateral or bilateral | 1 HP:0011034 | Amyloid disease | 1 |
| Disease ID | 683 |
|---|---|
| Disease | cutis laxa |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:6) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:2) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs28939370 | 17035250 | 10516 | FBLN5 | umls:C0010495 | BeFree | Histological analysis of skin sections from a cutis laxa patient with a homozygous S227P mutation showed a lack of fibulin-5 in the extracellular matrix and a concomitant disorganization of dermal elastic fibers. | 0.009248887 | 2006 | FBLN5 | 14 | 91887253 | A | G |
| rs80338766 | 18185537 | 10516 | FBLN5 | umls:C0010495 | BeFree | A p.C217R mutation in fibulin-5 from cutis laxa patients is associated with incomplete extracellular matrix formation in a skin equivalent model. | 0.009248887 | 2008 | FBLN5 | 14 | 91887283 | A | G |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:32) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000670 | Carious teeth | MP:0004033 | supernumerary teeth | occurrence of more than the usual number of teeth |
| HP:0001643 | Patent ductus arteriosus | MP:0011662 | persistent truncus arteriosus type ii | complete failure of the common arterial trunk opening out of both ventricles to divide into the aorta and pulmonary artery during development; type II is characterized by separate but proximate origins of the left and right pulmonary arterial branches fro |
| HP:0008066 | Abnormal blistering of the skin | 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:0001654 | Abnormality of the heart valves | MP:0008158 | increased diameter of femur | increased width of the cross-sectional distance that extends from one lateral edge of the femur, through its center and to the opposite lateral edge |
| HP:0000457 | Depressed nasal ridge | MP:0004872 | absent nasal septum | absence of the structure that separates the two nasal cavities |
| HP:0003272 | Abnormality of the hip bone | 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:0003196 | Short nose | MP:0002233 | abnormal nose morphology | any structural anomaly of the organ that is specialized for smell and is part of the respiratory system |
| HP:0001939 | Abnormality of metabolism/homeostasis | 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:0000160 | Narrow mouth | MP:0000452 | abnormal mouth morphology | any structural anomaly of the oral cavity |
| HP:0000174 | Abnormality of the palate | MP:0010701 | fusion of atlas and odontoid process | the large protuberance that projects upward from the cervical axis (C2), around which the cervical atlas normally rotates, is instead fused to elements of the atlas; the odontoid process may or may not remain attached to the axis |
| HP:0001650 | Aortic valve stenosis | MP:0010618 | enlarged mitral valve | an increase in the total area occupied by the mitral valve |
| HP:0000023 | Inguinal hernia | MP:0010146 | umbilical hernia | an outward bulging (protrusion) of the abdominal lining or part of the abdominal organ(s) through the area around the umbilicus; occurs when the muscle through which blood vessels pass to feed the developing fetus fails to completely close |
| HP:0001263 | Global developmental delay | MP:0002084 | abnormal developmental patterning | abnormal systematic arrangement of the developing body along an axis |
| HP:0000951 | Abnormality of the skin | 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:0001324 | Muscle weakness | MP:0000746 | weakness | state of being infirm or less strong than normal |
| HP:0001252 | Muscular hypotonia | MP:0004144 | hypotonia | decreased muscle tension resulting in limpness of the muscles in the resting state, not to be confused with weakness |
| 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:0001582 | Redundant 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:0010295 | Aplasia/Hypoplasia of the tongue | MP:0003409 | decreased width of hypertrophic chondrocyte zone | decreased width of cartilage cell matrix layer |
| HP:0007703 | Abnormality of retinal pigmentation | MP:0011665 | d-loop transposition of the great arteries | complete transposition of the great arteries; the d- refers to the dextroposition of the bulboventricular loop (ie, the position of the right ventricle, which is on the right side); in addition, the aorta also tends to be on the right and anterior, and th |
| HP:0000366 | Abnormality of the nose | MP:0012069 | abnormal horizontal basal cell of olfactory epithelium morphology | any structural anomaly of the flat or angular epithelial cell with condensed nuclei and darkly staining cytoplasm containing numerous intermediate filaments inserted into desmosomes contacting surrounding supporting cells, that lie in contact with the bas |
| 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:0001631 | Atria septal defect | MP:0011667 | double outlet right ventricle with atrioventricular septal defect | a form of DORV in which there is also a complete atrioventricular canal |
| HP:0000010 | Recurrent urinary tract infections | MP:0014044 | absent cardiac outflow tract | absence of or complete failure to form the common arterial trunk that normally forms the aorta and pulmonary artery and the ventricular outflow regions |
| 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:0001511 | Intrauterine growth retardation | MP:0011109 | lethality throughout fetal growth and development, 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 the completion of organogenesis and birth (Mus: E14 to approximately E18.5) |
| HP:0000470 | Short neck | MP:0012720 | elongated neck | increased length of the neck |
| HP:0000076 | Vesicoureteral reflux | MP:0001948 | vesicoureteral reflux | the retrograde flow of urine from the bladder into the ureters and kidneys |
| HP:0000474 | Thickened nuchal skin fold | 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:0001629 | Ventricular septal defect | MP:0011667 | double outlet right ventricle with atrioventricular septal defect | a form of DORV in which there is also a complete atrioventricular canal |
| HP:0010318 | Aplasia/Hypoplasia of the abdominal wall musculature | 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:0002205 | Recurrent respiratory infections | MP:0014182 | decreased respiratory epithelial sodium ion transmembrane transport | decrease in the directed movement of sodium ions from one side of the respiratory epithelial cell membrane to the other |
Mapped by homologous gene(Total Items:71) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001252 | Muscular hypotonia | 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:0005222 | Bowel diverticulosis | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002650 | Scoliosis | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0000474 | Thickened nuchal skin fold | 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:0000508 | Ptosis | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0001631 | Atria septal defect | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000964 | Eczema | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0001654 | Abnormality of the heart valves | 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:0010783 | Erythema | 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:0002205 | Recurrent respiratory infections | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0000238 | Hydrocephalus | MP:0020080 | increased bone mineralization | increase in the rate at which minerals are deposited into bone |
| HP:0000463 | Anteverted nares | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0003196 | Short nose | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| 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:0001629 | Ventricular septal defect | 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:0000506 | Telecanthus | 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: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:0002024 | Malabsorption | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0004326 | Cachexia | MP:0013659 | abnormal erythroid lineage cell morphology | any structural anomaly of an immature or mature cell in the lineage leading to and including erythrocytes |
| HP:0100679 | Lack of skin elasticity | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000174 | Abnormality of the palate | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002097 | Emphysema | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0000316 | Hypertelorism | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0002093 | Respiratory insufficiency | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0004397 | Ectopic anus | MP:0014152 | absent exorbital lacrimal gland | absence of the large extra-orbital lacrimal gland that, in mice, is normally located subcutaneously at the anteroventral base of the ear adjacent to the parotid gland |
| HP:0001363 | Craniosynostosis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002110 | Bronchiectasis | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0001510 | Growth delay | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0001511 | Intrauterine growth retardation | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000076 | Vesicoureteral reflux | MP:0014155 | absent olfactory epithelium | absence of the epithelial cells that line the interior of the nose |
| HP:0000821 | Hypothyroidism | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0001116 | Macular coloboma | MP:0013203 | abnormal primary cilium morphology | any structural anomaly of a cilium found on many different cell types that is typically present in a single copy per cell; a primary cilium may have a variable array of axonemal microtubules and may or may not contain molecular motors |
| HP:0001357 | Plagiocephaly | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0008066 | Abnormal blistering of the skin | 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:0001373 | Joint dislocation | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000262 | Turricephaly | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000670 | Carious teeth | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001643 | Patent ductus arteriosus | 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:0000457 | Depressed nasal ridge | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001324 | Muscle weakness | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0000768 | Pectus carinatum | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001650 | Aortic valve stenosis | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0000767 | Pectus excavatum | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0001263 | Global developmental delay | 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:0007392 | Excessive wrinkled skin | MP:0002644 | decreased circulating triglyceride level | reduced concentration of naturally occurring esters of three fatty acids and glycerol in the blood; triglycerides are widespread in adipose tissue, commonly circulate in the blood in the form of lipoproteins, and are involved in the process of bidirection |
| HP:0000160 | Narrow mouth | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001582 | Redundant skin | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0000470 | Short neck | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001939 | Abnormality of metabolism/homeostasis | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001025 | Urticaria | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0010295 | Aplasia/Hypoplasia of the tongue | MP:0013906 | absent embryonic telencephalon | absence of the paired diverticula of the embryonic telencephalon, from which the forebrain develops |
| 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:0000072 | Hydroureter | MP:0014044 | absent cardiac outflow tract | absence of or complete failure to form the common arterial trunk that normally forms the aorta and pulmonary artery and the ventricular outflow regions |
| HP:0010318 | Aplasia/Hypoplasia of the abdominal wall musculature | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0000286 | Epicanthus | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002607 | Bowel incontinence | MP:0013438 | dysmyelination | reduced amount of myelin present in the form of a myelin sheath surrounding an axon due to defects in the synthesis and formation of myelin |
| HP:0000494 | Downslanted palpebral fissures | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0007703 | Abnormality of retinal pigmentation | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000366 | Abnormality of the nose | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| 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:0000343 | Long philtrum | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0007495 | Prematurely aged appearance | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0000023 | Inguinal hernia | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0000369 | Low-set ears | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0000010 | Recurrent urinary tract infections | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| 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:0001974 | Leukocytosis | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0100777 | Exostoses | MP:0014178 | increased brain apoptosis | increase in the number of cells of the brain undergoing programmed cell death |
| HP:0000951 | Abnormality of the skin | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0003272 | Abnormality of the hip bone | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000239 | Large fontanelles | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| Disease ID | 683 |
|---|---|
| Disease | cutis laxa |
| Case | (Waiting for update.) |