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GHISID2
MCID: GRW042
MIFTS: 20
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Growth Hormone Insensitivity Syndrome with Immune Dysregulation 2, Autosomal Dominant (GHISID2)
Categories:
Blood diseases, Bone diseases, Endocrine diseases, Gastrointestinal diseases, Genetic diseases, Immune diseases, Rare diseases
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Aliases & Classifications for Growth Hormone Insensitivity Syndrome with Immune Dysregulation...
MalaCards integrated aliases for Growth Hormone Insensitivity Syndrome with Immune Dysregulation 2, Autosomal Dominant:
Name: Growth Hormone Insensitivity Syndrome with Immune Dysregulation 2, Autosomal Dominant
57
73
29
6
Characteristics:OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant
Miscellaneous:
incomplete penetrance of some features HPO:31
growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant:
Inheritance autosomal dominant inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Gastrointestinal diseases Endocrine diseases Blood diseases Bone diseases Immune diseases |
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UniProtKB/Swiss-Prot :
73
Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant: An autosomal dominant form of growth hormone insensitivity syndrome, a congenital disease characterized by short stature, growth hormone deficiency in the presence of normal to elevated circulating concentrations of growth hormone, resistance to exogeneous growth hormone therapy, and recurrent infections. GHISID2 patients usually have delayed bone age, delayed puberty, and decreased serum IGF1. Some patients may have features of mild immune dysregulation, such as eczema, increased serum IgE, asthma, or celiac disease.
MalaCards based summary : Growth Hormone Insensitivity Syndrome with Immune Dysregulation 2, Autosomal Dominant, is also known as ghisid2. An important gene associated with Growth Hormone Insensitivity Syndrome with Immune Dysregulation 2, Autosomal Dominant is STAT5B (Signal Transducer And Activator Of Transcription 5B). Affiliated tissues include bone, and related phenotypes are microcephaly and short stature OMIM® : 57 Autosomal dominant growth hormone insensitivity syndrome with immune dysregulation-2 (GHISID2) is a congenital disorder characterized by short stature due to insensitivity to growth hormone (GH1; 139250). Affected individuals usually have delayed bone age, delayed puberty, and decreased serum IGF1 (147440). Some patients may have features of mild immune dysregulation, such as eczema, increased serum IgE, asthma, or celiac disease (summary by Klammt et al., 2018). (618985) (Updated 05-Mar-2021) |
Diseases in the Growth Hormone Insensitivity Syndrome with Immune Dysregulation 1, Autosomal Recessive family:
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Symptoms & Phenotypes for Growth Hormone Insensitivity Syndrome with Immune Dysregulation...
Human phenotypes related to Growth Hormone Insensitivity Syndrome with Immune Dysregulation 2, Autosomal Dominant:31 (show all 11)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:618985 (Updated 05-Mar-2021) |
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MalaCards organs/tissues related to Growth Hormone Insensitivity Syndrome with Immune Dysregulation 2, Autosomal Dominant:40
Bone
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Articles related to Growth Hormone Insensitivity Syndrome with Immune Dysregulation 2, Autosomal Dominant:
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Genes related to Growth Hormone Insensitivity Syndrome with Immune Dysregulation 2, Autosomal Dominant (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Growth Hormone Insensitivity Syndrome with Immune Dysregulation 2, Autosomal Dominant:6
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Search
GEO
for disease gene expression data for Growth Hormone Insensitivity Syndrome with Immune Dysregulation 2, Autosomal Dominant.
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