Noonan syndrome 1

Preferred Label : Noonan syndrome 1;

Symbol : NS1;

CISMeF acronym : NS1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Noonan syndrome; Male turner syndrome; Female pseudo-turner syndrome; Turner phenotype with normal karyotype;

Included titles and symbols : Pterygium colli syndrome;

Description : Noonan syndrome (NS) is an autosomal dominant disorder characterized by short stature, facial dysmorphism, and a wide spectrum of congenital heart defects. The distinctive facial features consist of a broad forehead, hypertelorism, downslanting palpebral fissures, a high-arched palate, and low-set, posteriorly rotated ears. Cardiac involvement is present in up to 90% of patients. Pulmonic stenosis and hypertrophic cardiomyopathy are the most common forms of cardiac disease, but a variety of other lesions are also observed. Additional relatively frequent features include multiple skeletal defects (chest and spine deformities), webbed neck, mental retardation, cryptorchidism, and bleeding diathesis (summary by Tartaglia et al., 2002). - Genetic Heterogeneity of Noonan Syndrome See also NS3 (609942), caused by mutation in the KRAS gene (190070); NS4 (610733), caused by mutation in the SOS1 gene (182530); NS5 (611553), caused by mutation in the RAF1 gene (164760); NS6 (613224), caused by mutation in the NRAS gene (164790); NS7 (613706), caused by mutation in the BRAF gene (164757); and NS8 (615355), caused by mutation in the RIT1 gene (609591). See also NS2 (605275) for a possible autosomal recessive form of NS; Noonan syndrome-like disorder with loose anagen hair (NSLH; 607721), caused by mutation in the SHOC2 gene (602775); and Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL; 613563), caused by mutation in the CBL gene (165360). Mutations in the neurofibromin gene (NF1; 613113), which is the site of mutations causing classic neurofibromatosis type I (NF1; 162200), have been found in neurofibromatosis-Noonan syndrome (NFNS; 601321).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the protein tyrosine phosphatase, nonreceptor-type, 11 gene (PTPN11, 176876.0001);

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

Laboratory abnormalities : Partial deficiency of factor XIII(C); Partial deficiency of factor XII(C); Partial deficiency of factor XI(C); Thrombocytopenia;

Prefixed ID : #163950;

Details

Origin ID

163950;

UMLS CUI

C4551602;

Automatic exact mappings (from CISMeF team)
- multiple pterygium syndrome [MeSH Supplementary Concept]
- symbol withdrawn NS1 [HGNC gene]
Broader ORDO disease(s)
- Noonan syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Congenital malformation syndromes predominantly associated with short stature [ICD-10 Sub-category]
- NS-1 [MeSH concept]
- Noonan Syndrome 1 [NCIt concept]
- Noonan like syndrome [MeSH concept]
- Noonan syndrome [PASCAL descriptor]
- Noonan syndrome [DO Concept]
- Noonan syndrome [MedDRA Preferred Term]
- Noonan syndrome [ORDO Disease]
- Noonan syndrome 1 [DO Concept]
- Noonan's syndrome (disorder) [SNOMED CT concept]
- Turner's phenotype, karyotype normal (disorder) [SNOMED CT concept]
- female Pseudo-Turner syndrome [MeSH concept]
- noonan like syndrome [MeSH Supplementary Concept]
- noonan syndrome [MeSH Descriptor]
- noonan syndrome [MeSH concept]
- noonan syndrome [SNOMED Notion]
- turner syndrome, male [MeSH concept]
DO Cross reference
- Noonan syndrome 1 [DO Concept]
Genes related to phenotype
- Protein-tyrosine phosphatase, nonreceptor-type, 11 [OMIM gene]
HPO term(s)
- Abnormal bleeding [HPO term]
- Abnormal sternum morphology [HPO term]
- Amegakaryocytic thrombocytopenia [HPO term]
- Atrial septal defect [HPO term]
- Autosomal dominant inheritance [HPO term]
- Brachydactyly [HPO term]
- Broad forehead [HPO term]
- Bruising susceptibility [HPO term]
- Cafe-au-lait spot [HPO term]
- Chylothorax [HPO term]
- Cleft palate [HPO term]
- Clinodactyly [HPO term]
- Coarctation of aorta [HPO term]
- Cryptorchidism [HPO term]
- Cubitus valgus [HPO term]
- Cystic hygroma [HPO term]
- Dental malocclusion [HPO term]
- Downslanted palpebral fissures [HPO term]
- Dry skin [HPO term]
- Epicanthus [HPO term]
- Failure to thrive in infancy [HPO term]
- Feeding difficulties in infancy [HPO term]
- Hearing impairment [HPO term]
- High palate [HPO term]
- High, narrow palate [HPO term]
- High-arched palate [HPO term]
- Hypertelorism [HPO term]
- Hypertrophic cardiomyopathy [HPO term]
- Hypogonadism [HPO term]
- Hypospadias [HPO term]
- Intellectual disability [HPO term]
- Juvenile myelomonocytic leukemia [HPO term]
- Kyphoscoliosis [HPO term]
- Low posterior hairline [HPO term]
- Low-set ears [HPO term]
- Lymphedema [HPO term]
- Male infertility [HPO term]
- Micrognathia [HPO term]
- Myopia [HPO term]
- Neurofibrosarcoma [HPO term]
- Partial deficiency of factor xii:c [HPO term]
- Patent ductus arteriosus [HPO term]
- Pectus excavatum of inferior sternum [HPO term]
- Postnatal growth retardation [HPO term]
- Ptosis [HPO term]
- Pulmonic stenosis [HPO term]
- Radial deviation of finger [HPO term]
- Reduced factor XII activity [HPO term]
- Reduced factor XIII activity [HPO term]
- Sensorineural hearing impairment [HPO term]
- Shield chest [HPO term]
- Short neck [HPO term]
- Short stature [HPO term]
- Superior pectus carinatum [HPO term]
- Synovitis [HPO term]
- Triangular face [HPO term]
- Ventricular septal defect [HPO term]
- Webbed neck [HPO term]
- Wide intermamillary distance [HPO term]
- Woolly hair [HPO term]
- triangular face with age [HPO term]
ORDO concept(s)
- Noonan syndrome [ORDO Disease]
See also inter- (CISMeF)
- PTPN11 wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Noonan Syndrome [NCIt concept]
- Noonan Syndrome 1 [NCIt concept]
- Noonan syndrome [ORDO Disease]
- Noonan syndrome [MedDRA Preferred Term]
- Noonan syndrome [DO Concept]
- Noonan syndrome [Disease (Nov.)]
- Noonan syndrome 1 [DO Concept]
- Noonan's syndrome (disorder) [SNOMED CT concept]
- Turner's phenotype, karyotype normal (disorder) [SNOMED CT concept]
- noonan syndrome [SNOMED Notion]
- noonan syndrome [MeSH Descriptor]
- noonan syndrome [MeSH concept]
Validated automatic mappings to NTBT
- Noonan Syndrome [NCIt concept]
- Noonan syndrome [Disease (Nov.)]
- Noonan syndrome [ICD-11 Sub-sub category]

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