General Information of Disease (ID: DISULP1I)

Disease Name Glucocorticoid deficiency 2
Synonyms
familial glucocorticoid deficiency 2; GCCD2; MRAP familial glucocorticoid deficiency; glucocorticoid deficiency 2; familial glucocorticoid deficiency caused by mutation in MRAP; glucocorticoid deficiency type 2
Definition Any familial glucocorticoid deficiency in which the cause of the disease is a mutation in the MRAP gene.
Disease Hierarchy
DISG7TB4: Familial glucocorticoid deficiency
DISULP1I: Glucocorticoid deficiency 2
Disease Identifiers
MONDO ID
MONDO_0011826
MESH ID
C564577
UMLS CUI
C4049714
OMIM ID
607398
MedGen ID
891117

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
MRAP OTLBWM7X Definitive Autosomal recessive [1]
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References

1 Phenotypic characteristics of familial glucocorticoid deficiency (FGD) type 1 and 2. Clin Endocrinol (Oxf). 2010 May;72(5):589-94. doi: 10.1111/j.1365-2265.2009.03663.x. Epub 2009 Jun 24.