Noonan syndrome 3

Preferred Label : Noonan syndrome 3;

Symbol : NS3;

CISMeF acronym : NS3;

Type : Phenotype, molecular basis known;

Description : Noonan syndrome is an autosomal dominant dysmorphic syndrome characterized primarily by dysmorphic facial features, cardiac abnormalities, and short stature, among other features (summary by Shah et al., 1999). For a phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 (163950), which is caused by mutations in the PTPN11 gene (176876). Approximately 50% of cases of Noonan syndrome are caused by mutations in PTPN11.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the KRAS protooncogene, GTPase, gene (KRAS, 190070.0010);

Prefixed ID : #609942;

Détails

Origin ID

609942;

UMLS CUI

C1860991;

Broader ORDO disease(s)
- Noonan syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Noonan Syndrome 3 [NCIt concept]
- Noonan syndrome 3 [DO Concept]
- Noonan syndrome 3 [MeSH concept]
- noonan syndrome 3 [MeSH Supplementary Concept]
DO Cross reference
- Noonan syndrome 3 [DO Concept]
False automatic mappings
- NS-3 [MeSH concept]
Genes related to phenotype
- Kras protooncogene, gtpase [OMIM gene]
HPO term(s)
- Anteverted nares [HPO term]
- Atrial septal defect [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bruising susceptibility [HPO term]
- Chiari type I malformation [HPO term]
- Congenital onset [HPO term]
- Cryptorchidism [HPO term]
- Cystic hygroma [HPO term]
- Delayed skeletal maturation [HPO term]
- Dolichocephaly [HPO term]
- Downslanted palpebral fissures [HPO term]
- Epicanthus [HPO term]
- Frontal bossing [HPO term]
- Global developmental delay [HPO term]
- High palate [HPO term]
- Hypertelorism [HPO term]
- Hypertrophic cardiomyopathy [HPO term]
- Hypoplastic nasal bridge [HPO term]
- Juvenile myelomonocytic leukemia [HPO term]
- Left unilambdoid synostosis [HPO term]
- Low-set ears [HPO term]
- Mitral valve prolapse [HPO term]
- Nystagmus [HPO term]
- Patent ductus arteriosus [HPO term]
- Patent foramen ovale [HPO term]
- Pectus carinatum [HPO term]
- Pectus excavatum [HPO term]
- Polyhydramnios [HPO term]
- Posteriorly rotated ears [HPO term]
- Ptosis [HPO term]
- Pulmonic stenosis [HPO term]
- Sagittal craniosynostosis [HPO term]
- Scaphocephaly [HPO term]
- Shield chest [HPO term]
- Short nose [HPO term]
- Short stature [HPO term]
- Strabismus [HPO term]
- Thickened helices [HPO term]
- Tricuspid valve prolapse [HPO term]
- Ventricular septal defect [HPO term]
- Webbed neck [HPO term]
ORDO concept(s)
- Noonan syndrome [ORDO Disease]
See also inter- (CISMeF)
- KRAS wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Noonan Syndrome 3 [NCIt concept]
- Noonan syndrome 3 [MeSH concept]
- Noonan syndrome 3 [DO Concept]
- noonan syndrome 3 [MeSH Supplementary Concept]

Position du mot-clé dans l'(les) arborescence(s) :

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