Noonan Syndrome 11 (NS11)

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Disease Ontology 12 DOID:0112169 OMIM® 57 618499 OMIM Phenotypic Series 57 PS163950

MeSH 44 D009634 MedGen 41 C5193130 CN260594 SNOMED-CT via HPO 68 11934000 194021007 22006008 224958001 237836003 246800008 253251006 253366007 263681008 405752007 56786000 60700002 70142008 95515009 more

UniProtKB/Swiss-Prot : ⁷³ Noonan syndrome 11: A form of Noonan syndrome, a disease characterized by short stature, facial dysmorphic features such as hypertelorism, a downward eyeslant and low-set posteriorly rotated ears, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. Other features can include a short neck with webbing or redundancy of skin, deafness, motor delay, variable intellectual deficits, multiple skeletal defects, cryptorchidism, and bleeding diathesis. Individuals with Noonan syndrome are at risk of juvenile myelomonocytic leukemia, a myeloproliferative disorder characterized by excessive production of myelomonocytic cells. NS11 inheritance is autosomal dominant.

MalaCards based summary : Noonan Syndrome 11, is also known as ns11. An important gene associated with Noonan Syndrome 11 is MRAS (Muscle RAS Oncogene Homolog). Related phenotypes are ptosis and global developmental delay

Disease Ontology : ¹² A Noonan syndrome characterized by clinical characteristics of Noonan syndrome, varying impairment of intellectual development, and cardiac hypertrophy that has material basis in heterozygous mutation in MRAS on chromosome 3q22.3.

OMIM® : ⁵⁷ Noonan syndrome-11 is characterized by clinical characteristics of Noonan syndrome, varying impairment of intellectual development, and a consistent cardiac phenotype of cardiac hypertrophy (Higgins et al., 2017). For a phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 (163950). (618499) (Updated 05-Mar-2021)

Clinical features from OMIM®:

618499 (Updated 05-Mar-2021)

Search Clinical Trials , NIH Clinical Center for Noonan Syndrome 11

Search GEO for disease gene expression data for Noonan Syndrome 11.