Noonan syndrome 4

Preferred Label : Noonan syndrome 4;

Symbol : NS4;

CISMeF acronym : NS4;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the SOS Ras/Rac guanine nucleotide exchange factor 1 gene (SOS1, 182530.0002);

Neoplasia : Multiple giant cell granulomas (bones, joints, soft tissues);

Laboratory abnormalities : Partial deficiency of factor XIII (less common); Partial deficiency of factor XI (less common);

Prefixed ID : #610733;

Détails

Origin ID

610733;

UMLS CUI

C1853120;

Automatic exact mappings (from CISMeF team)
- SOS1 wt Allele [NCIt concept]
Broader ORDO disease(s)
- Noonan syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Noonan Syndrome 4 [NCIt concept]
- Noonan Syndrome 4 [MeSH concept]
- Noonan syndrome 4 [DO Concept]
- noonan syndrome 4 [MeSH Supplementary Concept]
DO Cross reference
- Noonan syndrome 4 [DO Concept]
Genes related to phenotype
- Sos ras/rac guanine nucleotide exchange factor 1 [OMIM gene]
HPO term(s)
- Abnormal bleeding [HPO term]
- Abnormal sternum morphology [HPO term]
- Atrial septal defect [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bilateral ptosis [HPO term]
- Blue irides [HPO term]
- Bruising susceptibility [HPO term]
- Cryptorchidism [HPO term]
- Cubitus valgus [HPO term]
- Curly hair [HPO term]
- Delayed skeletal maturation [HPO term]
- Dental malocclusion [HPO term]
- Depressed nasal bridge [HPO term]
- Downslanted palpebral fissures [HPO term]
- Epicanthus [HPO term]
- Fetal onset [HPO term]
- High anterior hairline [HPO term]
- Hydronephrosis [HPO term]
- Hypertelorism [HPO term]
- Hypertrophic cardiomyopathy [HPO term]
- Intellectual disability [HPO term]
- Keratosis pilaris [HPO term]
- Large for gestational age [HPO term]
- Low-set ears [HPO term]
- Macrocephaly [HPO term]
- Pectus excavatum [HPO term]
- Pectus excavatum of inferior sternum [HPO term]
- Polyhydramnios [HPO term]
- Posteriorly rotated ears [HPO term]
- Prolonged partial thromboplastin time [HPO term]
- Ptosis [HPO term]
- Pulmonic stenosis [HPO term]
- Reduced factor VIII activity [HPO term]
- Reduced factor XI activity [HPO term]
- Scoliosis [HPO term]
- Short neck [HPO term]
- Short stature [HPO term]
- Sparse eyebrow [HPO term]
- Thick vermilion border [HPO term]
- Thickened helices [HPO term]
- Thrombocytopenia [HPO term]
- Ureteral duplication [HPO term]
- Ventricular septal defect [HPO term]
- Webbed neck [HPO term]
- Wide intermamillary distance [HPO term]
- Wide mouth [HPO term]
ORDO concept(s)
- Noonan syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Noonan Syndrome 4 [MeSH concept]
- Noonan Syndrome 4 [NCIt concept]
- Noonan syndrome 4 [DO Concept]
- noonan syndrome 4 [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- Noonan syndrome [ORDO Disease]

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

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