Noonan syndrome 2

Preferred Label : Noonan syndrome 2;

Symbol : NS2;

CISMeF acronym : NS2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Noonan syndrome, autosomal recessive;

Description : Noonan syndrome (NS) is a multiple congenital anomalies syndrome characterized by a typical face, congenital heart disease, and short stature (summary by van der Burgt and Brunner, 2000). For a general phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 (163950).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the leucine zipper-like transcriptional regulator 1 gene (LZTR1, 600574.0010);

Neoplasia : Leukemia (in 2 families);

Prefixed ID : #605275;

Details

Origin ID

605275;

UMLS CUI

C1854469;

Broader ORDO disease(s)
- Noonan syndrome [ORDO Disease]
CISMeF manual mappings
- Noonan syndrome associated hypertrophic cardiomyopathy [Disease (Nov.)]
Currated CISMeF NLP mapping
- Noonan Syndrome 2 [NCIt concept]
- Noonan Syndrome 2 [MeSH concept]
- Noonan syndrome 2 [DO Concept]
- noonan syndrome 2 [MeSH Supplementary Concept]
DO Cross reference
- Noonan syndrome 2 [DO Concept]
Genes related to phenotype
- Leucine zipper-like transcriptional regulator 1 [OMIM gene]
HPO term(s)
- Abnormal coronary artery origin [HPO term]
- Abnormal sternum morphology [HPO term]
- Arthrogryposis multiplex congenita [HPO term]
- Atrial septal defect [HPO term]
- Atrioventricular canal defect [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cafe-au-lait spot [HPO term]
- Cardiomyopathy [HPO term]
- Coarctation of aorta [HPO term]
- Cryptorchidism [HPO term]
- Cubitus valgus [HPO term]
- Curly hair [HPO term]
- Downslanted palpebral fissures [HPO term]
- Epicanthus [HPO term]
- Global developmental delay [HPO term]
- High palate [HPO term]
- Hyperextensible skin [HPO term]
- Hyperkeratosis [HPO term]
- Hyperpigmentation of the skin [HPO term]
- Hypertelorism [HPO term]
- Hypertrophic cardiomyopathy [HPO term]
- Increased nuchal translucency [HPO term]
- Intellectual disability [HPO term]
- Leukemia [HPO term]
- Low posterior hairline [HPO term]
- Low-set ears [HPO term]
- Micrognathia [HPO term]
- Midface retrusion [HPO term]
- Mitral stenosis [HPO term]
- Nevus [HPO term]
- Palmoplantar cutis laxa [HPO term]
- Patent ductus arteriosus [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]
- Relative macrocephaly [HPO term]
- Shield chest [HPO term]
- Short neck [HPO term]
- Short stature [HPO term]
- Sparse eyebrow [HPO term]
- Underdeveloped supraorbital ridges [HPO term]
- Ventricular septal defect [HPO term]
- Wide intermamillary distance [HPO term]
ORDO concept(s)
- Noonan syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Noonan Syndrome 2 [MeSH concept]
- Noonan Syndrome 2 [NCIt concept]
- Noonan syndrome 2 [DO Concept]
- Noonan syndrome associated hypertrophic cardiomyopathy [Disease (Nov.)]
- noonan syndrome 2 [MeSH Supplementary Concept]

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