Noonan syndrome 8

Preferred Label : Noonan syndrome 8;

Symbol : NS8;

CISMeF acronym : NS8;

Type : Phenotype, molecular basis known;

Description : Noonan syndrome-8 is an autosomal dominant disorder characterized by short stature, distinctive facial features, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. A subset of patients show intellectual disabilities (summary by Aoki et al., 2013). For a phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 (163950).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the RIC-like protein without CAAX motif 1 gene (RIT1, 609591.0001);

Prefixed ID : #615355;

Details

Origin ID

615355;

UMLS CUI

C3809233;

Automatic exact mappings (from CISMeF team)
- RIT1 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Noonan Syndrome 8 [NCIt concept]
- Noonan syndrome 8 [DO Concept]
DO Cross reference
- Noonan syndrome 8 [DO Concept]
Genes related to phenotype
- Ric-like protein without caax motif 1 [OMIM gene]
HPO term(s)
- Abnormal sternum morphology [HPO term]
- Atrial septal defect [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cryptorchidism [HPO term]
- Curly hair [HPO term]
- Downslanted palpebral fissures [HPO term]
- Eczema [HPO term]
- Epicanthus [HPO term]
- Failure to thrive [HPO term]
- Feeding difficulties [HPO term]
- Hyperextensible skin [HPO term]
- Hyperkeratosis [HPO term]
- Hyperpigmentation of the skin [HPO term]
- Hypertelorism [HPO term]
- Hypertrophic cardiomyopathy [HPO term]
- Intellectual disability [HPO term]
- Large for gestational age [HPO term]
- Left ventricular hypertrophy [HPO term]
- Low-set ears [HPO term]
- Mitral regurgitation [HPO term]
- Palmoplantar cutis laxa [HPO term]
- Patent ductus arteriosus [HPO term]
- Pleural effusion [HPO term]
- Polyhydramnios [HPO term]
- Ptosis [HPO term]
- Pulmonic stenosis [HPO term]
- Relative macrocephaly [HPO term]
- Short neck [HPO term]
- Short stature [HPO term]
- Ventricular septal defect [HPO term]
- Webbed neck [HPO term]
ORDO concept(s)
- Noonan syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Noonan Syndrome 8 [NCIt concept]
- Noonan syndrome 8 [DO Concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients