NS11
MCID: NNN029
MIFTS: 23
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Noonan Syndrome 11 (NS11)
Categories:
Cardiovascular diseases, Ear diseases, Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Reproductive diseases, Skin diseases
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MalaCards integrated aliases for Noonan Syndrome 11:Characteristics:OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant
Miscellaneous:
based on 3 reported patients (last curated july 2019) HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Neuronal diseases Eye diseases Cardiovascular diseases Nephrological diseases Reproductive diseases Skin diseases Endocrine diseases Ear diseases |
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) |
Diseases in the Noonan Syndrome 1 family: |
Human phenotypes related to Noonan Syndrome 11:31 (show all 13)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:618499 (Updated 05-Mar-2021) |
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Articles related to Noonan Syndrome 11:
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ClinVar genetic disease variations for Noonan Syndrome 11:6
UniProtKB/Swiss-Prot genetic disease variations for Noonan Syndrome 11:73
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Search
GEO
for disease gene expression data for Noonan Syndrome 11.
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