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MCID: CST001
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Costello Syndrome malady |
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21 genes, 5 tissues, 237 related diseases, 23 phenotypes, 36 articles, clinical trials, genetic tests.
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Sources: 30NIH Rare Diseases, 17Genetics Home Reference, 44Wikipedia, 33OMIM, 15GeneReviews, 22MalaCards See all sources Export this MalaCard |
NIH Rare Diseases: Costello syndrome is characterized by delayed development and intellectual disability, distinctive facial features, loose folds of extra skin (especially on the hands and feet), and unusually flexible joints. Heart abnormalities are common, including an unusually fast heartbeat (tachycardia), structural heart defects, and a form of heart disease that enlarges and weakens the heart muscle (hypertrophic cardiomyopathy). Beginning in early childhood, people with Costello syndrome are at an increased risk of developing certain cancerous and noncancerous tumors. Costello syndrome is caused by mutations in the HRAS gene. It is considered an autosomal dominant condition, but almost all reported cases have resulted from new gene mutations and have occurred in people with no history of the disorder in their family.
The signs and symptoms of Costello syndrome overlap significantly with those of two other genetic conditions, cardiofaciocutaneous (CFC) syndrome and Noonan syndrome. While the three conditions are distinguished by their genetic cause and specific patterns of signs and symptoms, it can be difficult to tell them apart in infancy.30
MalaCards: Costello Syndrome, also known as faciocutaneoskeletal syndrome, is related to hyperinsulinemic hypoglycemia and cardiofaciocutaneous syndrome. An important gene associated with Costello Syndrome is HRAS (v-Ha-ras Harvey rat sarcoma viral oncogene homolog), and among its related pathways are Renal cell carcinoma and Pathways in cancer. The compounds c-peptide and pge2 have been mentioned in the context of this disorder. Affiliated tissues include brain, spinal cord and heart, and related mouse phenotypes are endocrine/exocrine gland and liver/biliary system. Genetics Home Reference: Costello syndrome is a disorder that affects many parts of the body. This condition is characterized by delayed development and intellectual disability, loose folds of skin (which are especially noticeable on the hands and feet), unusually flexible joints, and distinctive facial features including a large mouth. Heart problems are common, including an abnormal heartbeat (arrhythmia), structural heart defects, and a type of heart disease that enlarges and weakens the heart muscle (hypertrophic cardiomyopathy). Infants with Costello syndrome may be larger than average at birth, but most have difficulty feeding and grow more slowly than other children. People with this condition have relatively short stature and may have reduced growth hormone levels. Other signs and symptoms of Costello syndrome can include tight Achilles tendons (which connect the calf muscles to the heel), weak muscle tone (hypotonia), a structural abnormality of the brain called a Chiari I malformation, skeletal abnormalities, dental problems, and problems with vision.17 Wikipedia: Costello syndrome, also called faciocutaneoskeletal syndrome or FCS syndrome, is a rare genetic disorder...44 more... OMIM: 218040 GeneReviews summary for costello |
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Sources: 6Disease Ontology, 7diseasecard, 15GeneReviews, 30NIH Rare Diseases, 16GeneTests, 17Genetics Home Reference, 8DISEASES, 33OMIM, 43UMLS, 24MeSH See all sources |
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Sources: 33OMIM See all sources |
Clinical features from OMIM: 218040
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Sources: 4CenterWatch, 29NIH Clinical Center, 5ClinicalTrials, 43UMLS, 28NDF-RT See all sources |
Approved drugs:Search CenterWatch for costello syndrome Drug clinical trials:Search ClinicalTrials for costello syndrome Search NIH Clinical Center for costello syndrome Search CenterWatch for costello syndrome |
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Sources: 16GeneTests See all sources |
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Sources: 22MalaCards See all sources |
MalaCards organs/tissues related to costello syndrome:22Brain, Spinal cord, Heart, Skeletal muscle, Skin
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Sources: 25MGI See all sources |
MGI Mouse Phenotypes related to costello syndrome:25 (show all 23)
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Sources: 35PubMed See all sources |
Articles related to costello syndrome:(show all 36)
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Sources: 1BioGPS See all sources |
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Sources: 20KEGG, 34PharmGKB, 36QIAGEN, 10EMD Millipore, 41Thomson Reuters, 37R&D Systems, 3Cell Signaling Technology See all sources |
Pathways related to costello syndrome according to GeneDecks:(show top 50) (show all 286)
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Sources: 32Novoseek , 9DrugBank, 18HMDB, 34PharmGKB, 42Tocris Bioscience See all sources |
Compounds related to costello syndrome according to GeneDecks:(show top 50) (show all 100)
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Sources: 12Gene Ontology See all sources |
Cellular components related to costello syndrome according to GeneDecks:
Biological processes related to costello syndrome according to GeneDecks:(show all 27)
Molecular functions related to costello syndrome according to GeneDecks:
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