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MCID: GRV008
MIFTS: 43
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Graves Disease 1
Categories:
Endocrine diseases, Rare diseases, Immune diseases
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MalaCards integrated aliases for Graves Disease 1:
Name: Graves Disease 1
57
Characteristics:OMIM:57
Inheritance:
autosomal recessive vs. dominant with relative sex limitation to females and reduced penetrance postulated, but more likely multifactorial Classifications:
ICD10:
33
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OMIM
:
57
Graves disease is an autoimmune disorder in which antibodies to the thyrotropin receptor (TSHR; 603372) result in constitutive activation of the receptor and increased levels of thyroid hormone. Wilkin (1990) reviewed endocrine disorders of hormone excess and hormone deficiency resulting from receptor autoimmunity. (275000)
MalaCards based summary : Graves Disease 1, also known as thyrotoxicosis, is related to neonatal thyrotoxicosis and thyrotoxic periodic paralysis. An important gene associated with Graves Disease 1 is GRD1 (Graves Disease, Susceptiblity To, 1), and among its related pathways/superpathways are Aldosterone synthesis and secretion and Thyroid hormone signaling pathway. Affiliated tissues include thyroid and heart, and related phenotypes are proptosis and irritability Disease Ontology : 12 A thyroid gland disease that is characterized by excess thyroid hormone. |
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:275000Human phenotypes related to Graves Disease 1:32 (show all 15)
MGI Mouse Phenotypes related to Graves Disease 1:46
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Inferred drug relations via UMLS 73 / NDF-RT 51 :Cochrane evidence based reviews: thyrotoxicosis |
MalaCards organs/tissues related to Graves Disease 1:41
Thyroid,
Heart
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Articles related to Graves Disease 1:
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- Elite gene
- Cancer Census gene in COSMIC
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Search
GEO
for disease gene expression data for Graves Disease 1.
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Biological processes related to Graves Disease 1 according to GeneCards Suite gene sharing:
Molecular functions related to Graves Disease 1 according to GeneCards Suite gene sharing:
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