Noonan Syndrome

Preferred Label : Noonan Syndrome;

NCIt related terms : Noonan's Syndrome;

NCIt 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.;

Alternative definition : NICHD: 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.; ACC/AHA: 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.;

Details

Origin ID

C34854;

UMLS CUI

C0028326;

Currated CISMeF NLP mapping
- Noonan syndrome [PASCAL descriptor]
- Noonan syndrome [ACR pathology]
- Noonan syndrome [ACR pathology]
- Noonan syndrome [DO Concept]
- Noonan syndrome [Disease (Nov.)]
- Noonan syndrome [ICD-11 Sub-sub category]
- Noonan syndrome [OMIM phenotypic series]
- Noonan syndrome [MedDRA Preferred Term]
- Noonan syndrome [ORDO Disease]
- Noonan's syndrome (disorder) [SNOMED CT concept]
- noonan syndrome [MeSH Descriptor]
- noonan syndrome [MeSH concept]
- noonan syndrome [SNOMED Notion]
DO Cross reference
- Noonan syndrome [DO Concept]
See also inter- (CISMeF)
- Noonan like syndrome [MeSH concept]
- noonan like syndrome [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Noonan syndrome [ORDO Disease]
- Noonan syndrome [DO Concept]
- Noonan syndrome [Disease (Nov.)]
- Noonan syndrome [MedDRA Preferred Term]
- Noonan syndrome 1 [OMIM Phenotype]
- Noonan's syndrome (disorder) [SNOMED CT concept]
- Turner's phenotype, karyotype normal (disorder) [SNOMED CT concept]
- noonan syndrome [MeSH concept]
- noonan syndrome [MeSH Descriptor]
- noonan syndrome [SNOMED Notion]
Validated automatic mappings to BTNT
- Noonan syndrome 1 [OMIM Phenotype]
Validated automatic mappings to NTBT
- Congenital malformation syndromes associated with short stature (disorder) [SNOMED CT concept]
- Congenital malformation syndromes predominantly associated with short stature [ICD-10 Sub-category (who)]
- Congenital malformation syndromes predominantly associated with short stature [ICD-10 Sub-category]
concept_is_in_subset
- ACC/AHA Pediatric and Congenital Cardiology EHR Terminology [NCIt concept]
- CCPS Disease Terminology [NCIt concept]
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- Childhood Cancer Predisposition Study Terminology [NCIt concept]
- HL Authorized Value Terminology [NCIt concept]
- HL Medical History Table [NCIt concept]
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
disease_has_associated_disease
- Noonan Syndrome-Associated Myeloproliferative Disorder [NCIt concept]
related_to_genetic_biomarker
- BRAF Gene [NCIt concept]
- KRAS Gene [NCIt concept]
- LZTR1 Gene [NCIt concept]
- MAP2K1 Gene [NCIt concept]
- MAPK1 Gene [NCIt concept]
- MRAS Gene [NCIt concept]
- NRAS Gene [NCIt concept]
- PTPN11 Gene [NCIt concept]
- RAF1 Gene [NCIt concept]
- RASA2 Gene [NCIt concept]
- RIT1 Gene [NCIt concept]
- RRAS Gene [NCIt concept]
- RRAS2 Gene [NCIt concept]
- SOS1 Gene [NCIt concept]
- SOS2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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