Noonan Syndrome 7

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OMIM 57 613706 Disease Ontology 12 DOID:0060585 ICD10 33 Q87.1 MedGen 42 C3150970

MeSH 44 D009634 SNOMED-CT via HPO 69 263681008 72239002 194021007 22006008 95515009 4830009 49765009 228156007 247578003 91138005 253366007 405752007 70142008 56786000 288939007 40739000 111266001 64217002 237836003 386806002 more UMLS 73 C3150970

UniProtKB/Swiss-Prot : ⁷⁵ Noonan syndrome 7: 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.

MalaCards based summary : Noonan Syndrome 7, is also known as ns7. An important gene associated with Noonan Syndrome 7 is BRAF (B-Raf Proto-Oncogene, Serine/Threonine Kinase). Affiliated tissues include skin and heart, and related phenotypes are dolichocephaly and hypertelorism

OMIM : ⁵⁷ Noonan syndrome is a developmental disorder characterized by reduced postnatal growth, dysmorphic facial features, cardiac defects, and variable cognitive defects (summary by Sarkozy et al., 2009). (613706)

Disease Ontology : ¹² A Noonan syndrome that has_material_basis in heterozygous mutation in the BRAF gene.

Clinical features from OMIM:

613706

Search NIH Clinical Center for Noonan Syndrome 7

Search GEO for disease gene expression data for Noonan Syndrome 7.