eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| costello syndrome | ||||
| Disease ID | 243 |
|---|---|
| Disease | costello syndrome |
| Definition | Rare congenital disorder with multiple anomalies including: characteristic dysmorphic craniofacial features, musculoskeletal abnormalities, neurocognitive delay, and high prevalence of cancer. Germline mutations in H-Ras protein can cause Costello syndrome. Costello syndrome shows early phenotypic overlap with other disorders that involve MAP KINASE SIGNALING SYSTEM (e.g., NOONAN SYNDROME and cardiofaciocutaneous syndrome). |
| Synonym | costello syndrome (disorder) costello syndrome [disease/finding] cstlo faciocutaneoskeletal syndrome faciocutaneoskeletal syndromes fcs syndrome fcs syndromes syndrome, costello syndrome, faciocutaneoskeletal syndrome, fcs syndromes, faciocutaneoskeletal syndromes, fcs |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0587248 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:4) C0013421 | dystonia | 1 C0010495 | cutis laxa | 1 C0175704 | leopard syndrome | 1 C0022578 | keratoconus | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:7) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:29) 6833 | ABCC8 | 1.43 | DISEASES 633 | BGN | 1.108 | DISEASES 1028 | CDKN1C | 1.776 | DISEASES 55636 | CHD7 | 1.107 | DISEASES 1759 | DNM1 | 1.665 | DISEASES 3266 | ERAS | 4.307 | DISEASES 10516 | FBLN5 | 1.553 | DISEASES 2261 | FGFR3 | 2.229 | DISEASES 23426 | GRIP1 | 2.309 | DISEASES 3347 | HTN3 | 1.581 | DISEASES 3481 | IGF2 | 1.261 | DISEASES 3767 | KCNJ11 | 1.072 | DISEASES 54900 | LAX1 | 2.132 | DISEASES 3980 | LIG3 | 1.08 | DISEASES 4043 | LRPAP1 | 1.689 | DISEASES 5609 | MAP2K7 | 3.379 | DISEASES 4237 | MFAP2 | 2.467 | DISEASES 4763 | NF1 | 3.88 | DISEASES 5154 | PDGFA | 1.102 | DISEASES 56034 | PDGFC | 1.701 | DISEASES 80310 | PDGFD | 1.857 | DISEASES 5781 | PTPN11 | 5.031 | DISEASES 5900 | RALGDS | 2.417 | DISEASES 5923 | RASGRF1 | 2.121 | DISEASES 8036 | SHOC2 | 4.714 | DISEASES 6654 | SOS1 | 4.631 | DISEASES 10252 | SPRY1 | 1.686 | DISEASES 10253 | SPRY2 | 1.864 | DISEASES 6427 | SRSF2 | 1.243 | DISEASES |
| Locus | Symbol | Locus(Total Locus:1) HRAS | 11p15.5 |
| Disease ID | 243 |
|---|---|
| Disease | costello syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:48) HP:0012740 | Papilloma HP:0000028 | Cryptorchidism HP:0000470 | Short neck HP:0000682 | Abnormality of dental enamel HP:0004322 | Short stature HP:0001629 | Ventricular septal defect HP:0000474 | Thickened nuchal skin fold HP:0005280 | Depressed nasal bridge HP:0002224 | Woolly hair HP:0007477 | Abnormal dermatoglyphics HP:0100729 | Large face HP:0000563 | Keratoconus HP:0000486 | Strabismus HP:0009748 | Large earlobe HP:0005692 | Joint hyperflexibility HP:0001531 | Failure to thrive in infancy HP:0000158 | Macroglossia HP:0000164 | Abnormality of the teeth HP:0009465 | Ulnar deviation of finger HP:0001639 | Hypertrophic cardiomyopathy HP:0002120 | Cerebral cortical atrophy HP:0001642 | Pulmonic stenosis HP:0008872 | Feeding difficulties in infancy HP:0002020 | Gastroesophageal reflux HP:0000962 | Hyperkeratosis HP:0000286 | Epicanthus HP:0000956 | Acanthosis nigricans HP:0000256 | Macrocephaly HP:0001814 | Deep-set nails HP:0000293 | Full cheeks HP:0004690 | Thickened Achilles tendon HP:0000951 | Abnormality of the skin HP:0001598 | Concave nail HP:0001595 | Abnormality of the hair HP:0001249 | Intellectual disability HP:0001800 | Hypoplastic toenails HP:0000179 | Thick lower lip vermilion HP:0001634 | Mitral valve prolapse HP:0001582 | Redundant skin HP:0002750 | Delayed skeletal maturation HP:0100679 | Lack of skin elasticity HP:0000368 | Low-set, posteriorly rotated ears HP:0000280 | Coarse facial features HP:0002033 | Poor suck HP:0000189 | Narrow palate HP:0001231 | Abnormality of the fingernails HP:0007440 | Generalized hyperpigmentation HP:0001561 | Polyhydramnios |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:7) HP:0000821 | Underactive thyroid | 1 HP:0000028 | Cryptorchidism | 1 HP:0100543 | Cognitive deficits | 1 HP:0000563 | Conical cornea | 1 HP:0006482 | Dental malformations | 1 HP:0000973 | Dermatomegaly | 1 HP:0001332 | Dystonia | 1 |
| Disease ID | 243 |
|---|---|
| Disease | costello syndrome |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:13) C1709353 | osteofibrous dysplasia C0700208 | scoliosis C0699885 | bladder carcinoma C0520679 | obstructive sleep apnea C0340425 | hypertrophic cardiomyopathy C0281788 | biventricular hypertrophy C0271561 | growth hormone deficiency C0235896 | pulmonary infiltrates C0035412 | rhabdomyosarcoma C0030508 | parasomnia C0030354 | papillomas C0020459 | hyperinsulinism C0018799 | cardiac disease |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Manually Genotypes:1) | |||
|---|---|---|---|
| Gene | Mutation | DOI | Article Title |
| HRAS | c.34G>A, c.34G>T, c.35G>C, c.35_36delGCinsTT, c. 35_36delGCinsAA, c.37G>T, c.38G>A, c.64C>A, c.110_111+1dupAGG, c.108_110dupAGA, c.173C>T, c.187G>A, c.350A>G, c.436G>A, c.437C>T | doi:10.1038/gim.0b013e31822dd91f | Costello syndrome: a Ras/mitogen activated protein kinase pathway syndrome (rasopathy) resulting from HRAS germline mutations |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:15) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs104894227 | 23335589 | 92170 | MTG1 | umls:C0587248 | BeFree | Functional analyses of rarer HRAS mutations identified in individuals with attenuated Costello syndrome phenotypes revealed altered GDP/GTP nucleotide affinities (p.K117R) and inefficient effector binding (p.E37dup). | 0.000814326 | 2013 | HRAS;LRRC56 | 11 | 533553 | T | C |
| rs104894227 | 17979197 | 3265 | HRAS | umls:C0587248 | BeFree | Mutation analysis in Costello syndrome: functional and structural characterization of the HRAS p.Lys117Arg mutation. | 0.454657861 | 2008 | HRAS;LRRC56 | 11 | 533553 | T | C |
| rs104894228 | 19213030 | 3265 | HRAS | umls:C0587248 | BeFree | A premature infant with Costello syndrome due to a rare G13C HRAS mutation. | 0.454657861 | 2009 | HRAS;LRRC56 | 11 | 534286 | C | T,G,A |
| rs104894228 | 21438134 | 3265 | HRAS | umls:C0587248 | BeFree | Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C. | 0.454657861 | 2011 | HRAS;LRRC56 | 11 | 534286 | C | T,G,A |
| rs104894229 | 17324647 | 3265 | HRAS | umls:C0587248 | BeFree | We have observed unusual transverse distal phalangeal creases in two patients, one with Costello syndrome (G12S mutation in the HRAS gene) and one with cardio-facio-cutaneous (CFC) syndrome or possibly Noonan syndrome (Q22E mutation in the KRAS gene). | 0.454657861 | 2007 | HRAS;LRRC56 | 11 | 534289 | C | T,G,A |
| rs104894229 | 16881968 | 3265 | HRAS | umls:C0587248 | BeFree | Recurring HRAS mutation G12S in Dutch patients with Costello syndrome. | 0.454657861 | 2006 | HRAS;LRRC56 | 11 | 534289 | C | T,G,A |
| rs104894229 | 17324647 | 3845 | KRAS | umls:C0587248 | BeFree | We have observed unusual transverse distal phalangeal creases in two patients, one with Costello syndrome (G12S mutation in the HRAS gene) and one with cardio-facio-cutaneous (CFC) syndrome or possibly Noonan syndrome (Q22E mutation in the KRAS gene). | 0.122171535 | 2007 | HRAS;LRRC56 | 11 | 534289 | C | T,G,A |
| rs104894229 | 20979192 | 3265 | HRAS | umls:C0587248 | BeFree | Costello syndrome with severe cutis laxa and mosaic HRAS G12S mutation. | 0.454657861 | 2010 | HRAS;LRRC56 | 11 | 534289 | C | T,G,A |
| rs104894229 | 19206176 | 3265 | HRAS | umls:C0587248 | BeFree | Male-to-male transmission of Costello syndrome: G12S HRAS germline mutation inherited from a father with somatic mosaicism. | 0.454657861 | 2009 | HRAS;LRRC56 | 11 | 534289 | C | T,G,A |
| rs104894229 | 21834037 | 3265 | HRAS | umls:C0587248 | BeFree | Molecular confirmation of HRAS p.G12S in siblings with Costello syndrome. | 0.454657861 | 2011 | HRAS;LRRC56 | 11 | 534289 | C | T,G,A |
| rs104894229 | 22926243 | 3265 | HRAS | umls:C0587248 | BeFree | Two cases with severe lethal course of Costello syndrome associated with HRAS p.G12C and p.G12D. | 0.454657861 | 2012 | HRAS;LRRC56 | 11 | 534289 | C | T,G,A |
| rs104894230 | 22926243 | 3265 | HRAS | umls:C0587248 | BeFree | Two cases with severe lethal course of Costello syndrome associated with HRAS p.G12C and p.G12D. | 0.454657861 | 2012 | HRAS;LRRC56 | 11 | 534288 | C | T,G,A |
| rs121913530 | 17324647 | 3845 | KRAS | umls:C0587248 | BeFree | We have observed unusual transverse distal phalangeal creases in two patients, one with Costello syndrome (G12S mutation in the HRAS gene) and one with cardio-facio-cutaneous (CFC) syndrome or possibly Noonan syndrome (Q22E mutation in the KRAS gene). | 0.122171535 | 2007 | KRAS | 12 | 25245351 | C | T,G,A |
| rs121913530 | 17324647 | 3265 | HRAS | umls:C0587248 | BeFree | We have observed unusual transverse distal phalangeal creases in two patients, one with Costello syndrome (G12S mutation in the HRAS gene) and one with cardio-facio-cutaneous (CFC) syndrome or possibly Noonan syndrome (Q22E mutation in the KRAS gene). | 0.454657861 | 2007 | KRAS | 12 | 25245351 | C | T,G,A |
| rs121964857 | NA | 7139 | TNNT2 | umls:C0587248 | CLINVAR | NA | 0.12 | NA | TNNT2 | 1 | 201359245 | G | A |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:24) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0008872 | Feeding difficulties in infancy | MP:0011075 | abnormal macrophage activation involved in immune response | anomaly in the process in which a change in response and behavior of a macrophage results from exposure to a cytokine, chemokine, cellular ligand, or soluble factor, leading to the initiation or perpetuation of an immune response |
| HP:0000179 | Thick lower lip vermilion | MP:0005170 | cleft upper lip | defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences |
| HP:0009465 | Ulnar deviation of finger | MP:0010178 | increased number of Howell-Jolly bodies | abnormal presence of basophilic nuclear remnants of condensed DNA (1 to 2 um in diameter) in circulating erythrocytes, typically seen in severe hemolytic anemias or after splenectomy; these inclusions are normally removed by the spleen but will persist in |
| HP:0005280 | Depressed nasal bridge | MP:0013582 | abnormal lateral nasal gland morphology | any structural anomaly of the lateral nasal glands (the largest nasal secretory glands in rodents) which surround the maxillary sinus located in the lateral wall adjacent to each nasal passage and are characterized by cytologic features similar to those d |
| HP:0001639 | Hypertrophic cardiomyopathy | MP:0005330 | cardiomyopathy | diseases of the heart (myocardium); may result from many causes |
| HP:0001642 | Pulmonic stenosis | MP:0010449 | heart right ventricle outflow tract stenosis | abnormal constriction or narrowing of part of the anteriosuperior, smooth-walled portion of the cavity of the right ventricle, beginning at the supraventricular crest and terminating in the pulmonary trunk |
| 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:0000189 | Narrow palate | MP:0009653 | abnormal palate development | abnormal formation of the roof of the mouth in vertebrates formed anteriorly by a bony projection of the upper jaw (hard palate) and posteriorly by the fold of connective tissue (soft palate) |
| HP:0001595 | Abnormality of the hair | MP:0008261 | arrest of male meiosis | cessation of the progression of the process of nuclear division that results in sperm with one half the normal chromosome number of the original cell |
| 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:0001531 | Failure to thrive in infancy | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0002224 | Woolly hair | MP:0010685 | abnormal hair follicle inner root sheath morphology | any structural anomaly of the multilayered tube composed of terminally differentiated hair follicle keratinocytes that is surrounded by the outer root sheath; the layers of the inner root sheath include the companion layer, Henle's layer, Huxley's layer a |
| HP:0001231 | Abnormality of the fingernails | 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:0001634 | Mitral valve prolapse | MP:0010617 | thick mitral valve cusps | an increase in the ratio of the mitral valve cusp wall thickness to the atrioventricular septum thickness |
| HP:0000280 | Coarse facial features | MP:0008018 | increased facial tumor incidence | greater than the expected number of neoplasms on the face, usually in the form of a distinct mass, in a specific population in a given time period |
| HP:0007440 | Generalized hyperpigmentation | MP:0001188 | hyperpigmentation | excess of pigment in any or all tissues or a part of a tissue |
| HP:0000682 | Abnormality of dental enamel | 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:0002750 | Delayed skeletal maturation | MP:0003379 | absent sexual maturation | failure to initiate pubertal changes that result in achievement of full sexual capacity |
| HP:0000470 | Short neck | MP:0012720 | elongated neck | increased length of the neck |
| 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:0002120 | Cerebral cortical atrophy | MP:0012506 | brain atrophy | acquired diminution of the size of the brain associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal chan |
| 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:0000164 | Abnormality of the teeth | MP:0010382 | abnormal dosage compensation, by inactivation of X chromosome | anomaly in the process of compensating for the two-fold variation in X-chromosome:autosome ratios between sexes by a global inactivation of all, or most of, the genes on one of the X-chromosomes in the XX sex |
Mapped by homologous gene(Total Items:47) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001634 | Mitral valve prolapse | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0009465 | Ulnar deviation of finger | MP:0013901 | absent female preputial gland | absence of the paired, lobulated, modified sebaceous glands located on the side of the clitoris in female rodents; in contrast to the preputial glands in male rodents, clitoral glands are a minor source of olfactory stimuli contributing to sexual attracti |
| 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:0002120 | Cerebral cortical atrophy | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000164 | Abnormality of the teeth | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001595 | Abnormality of the hair | MP:0014127 | increased thymoma incidence | greater than the expected number of a malignant neoplasm originating from the epithelial cells of the thymus, occurring in a specific population in a given time period; thymoma is an uncommon tumor linked with myasthenia gravis and other autoimmune diseas |
| HP:0000486 | Strabismus | 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:0002224 | Woolly hair | MP:0014178 | increased brain apoptosis | increase in the number of cells of the brain undergoing programmed cell death |
| 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:0000682 | Abnormality of dental enamel | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001814 | Deep-set nails | MP:0012114 | absent inner cell mass proliferation | |
| HP:0100679 | Lack of skin elasticity | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0007477 | Abnormal dermatoglyphics | 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: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:0000189 | Narrow palate | 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:0000028 | Cryptorchidism | 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:0001231 | Abnormality of the fingernails | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000158 | Macroglossia | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0005280 | Depressed nasal bridge | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001639 | Hypertrophic cardiomyopathy | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001800 | Hypoplastic toenails | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001561 | Polyhydramnios | 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: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:0009748 | Large earlobe | 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:0001531 | Failure to thrive in infancy | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| 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:0001642 | Pulmonic stenosis | 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:0000563 | Keratoconus | MP:0013743 | ciliary body hypoplasia | underdevelopment or reduced size, usually due to a reduced number of cells, of the thickened portion of the vascular tunic which lies between the choroid and the iris |
| HP:0000962 | Hyperkeratosis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0008872 | Feeding difficulties in infancy | 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:0007440 | Generalized hyperpigmentation | MP:0014167 | ectopic bone | the appearance of an extra bone structure at an atypical location |
| HP:0002020 | Gastroesophageal reflux | MP:0014178 | increased brain apoptosis | increase in the number of cells of the brain undergoing programmed cell death |
| HP:0000286 | Epicanthus | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000179 | Thick lower lip vermilion | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0000280 | Coarse facial features | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0000368 | Low-set, posteriorly rotated ears | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0100729 | Large face | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002750 | Delayed skeletal maturation | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0001598 | Concave nail | MP:0013743 | ciliary body hypoplasia | underdevelopment or reduced size, usually due to a reduced number of cells, of the thickened portion of the vascular tunic which lies between the choroid and the iris |
| HP:0000256 | Macrocephaly | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0005692 | Joint hyperflexibility | MP:0012125 | decreased bronchoconstrictive response | reduction in the expected bronchoconstrictive response to provocation challenge with lipopolysaccharide, bradykinin, histamine or other antigen/allergen or agent, often measured by plethysmography |
| HP:0002033 | Poor suck | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000293 | Full cheeks | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells 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:0004690 | Thickened Achilles tendon | MP:0003619 | abnormal urine color | any alteration from the usual straw-coloration of the urine |
| Disease ID | 243 |
|---|---|
| Disease | costello syndrome |
| Case | (Waiting for update.) |