loading...| Preferred Name |
Noonan Syndrome |
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| Synonyms |
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| Definitions |
A genetic syndrome caused by mutations in the PTPN11 gene (over 50% of the cases) or less frequently mutations in the SOS1, RAF1, or KRAS genes. It is characterized by short stature, webbed neck, hypertelorism, low-set ears, deafness, and thrombocytopenia or abnormal platelet function. |
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| ID |
http://purl.obolibrary.org/obo/NCIT_C34854 |
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| ALT_DEFINITION |
A genetic syndrome caused by mutations in the PTPN11 gene (greater than 50% of the cases) or less frequently mutations in the SOS1, RAF1, or KRAS genes. It is characterized by short stature, webbed neck, hypertelorism, low-set ears, deafness, and thrombocytopenia or abnormal platelet function. A predominantly autosomal dominant condition typically caused by mutation(s) in genes encoding proteins involved in the RAS-MAP kinase pathway, disrupting the regulation of cell growth and division. The condition is characterized by short stature, webbed neck, hypertelorism, low-set ears, deafness, pectus excavatum/carinatum, right sided cardiac anomalies (pulmonary stenosis, hypertrophic cardiomyopathy), bleeding disorders, and an increased risk of leukemia. Fifty percent of individuals with Noonan syndrome have mutation(s) in the PTPN11 gene, encoding tyrosine-protein phosphatase non-receptor type 11. |
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| code |
C34854 |
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| Contributing_Source |
Cellosaurus ACC/AHA CCPS NICHD PCDC |
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| definition |
A genetic syndrome caused by mutations in the PTPN11 gene (over 50% of the cases) or less frequently mutations in the SOS1, RAF1, or KRAS genes. It is characterized by short stature, webbed neck, hypertelorism, low-set ears, deafness, and thrombocytopenia or abnormal platelet function. |
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| in_subset |
http://purl.obolibrary.org/obo/NCIT_C90259 http://purl.obolibrary.org/obo/NCIT_C186341 http://purl.obolibrary.org/obo/NCIT_C177516 http://purl.obolibrary.org/obo/NCIT_C118467 http://purl.obolibrary.org/obo/NCIT_C177281 http://purl.obolibrary.org/obo/NCIT_C165258 http://purl.obolibrary.org/obo/NCIT_C167409 |
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| label |
Noonan Syndrome |
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| Legacy Concept Name |
Noonan_Syndrome |
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| Preferred_Name |
Noonan Syndrome |
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| prefixIRI |
NCIT:C34854 |
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| prefLabel |
Noonan Syndrome |
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| Related_To_Genetic_Biomarker |
http://purl.obolibrary.org/obo/NCIT_C177201 http://purl.obolibrary.org/obo/NCIT_C24755 http://purl.obolibrary.org/obo/NCIT_C175641 http://purl.obolibrary.org/obo/NCIT_C18338 http://purl.obolibrary.org/obo/NCIT_C177164 http://purl.obolibrary.org/obo/NCIT_C25785 http://purl.obolibrary.org/obo/NCIT_C116308 http://purl.obolibrary.org/obo/NCIT_C21222 http://purl.obolibrary.org/obo/NCIT_C24613 http://purl.obolibrary.org/obo/NCIT_C18363 http://purl.obolibrary.org/obo/NCIT_C128257 http://purl.obolibrary.org/obo/NCIT_C25786 http://purl.obolibrary.org/obo/NCIT_C21227 |
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| Semantic_Type |
Disease or Syndrome Congenital Abnormality |
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| UMLS_CUI |
C0028326 |
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| subClassOf |