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Familial glucocorticoid deficiency
5 OMIM references -
4 associated genes
17 connected diseases
No signs/symptoms info
Disease Type of connection
Classic congenital lipoid adrenal hyperplasia due to STAR deficency
Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency
Isolated NADH-CoQ reductase deficiency
Amyotrophic lateral sclerosis
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Familial melanoma
Large congenital melanocytic nevus
Obesity due to MC3R deficiency
Obesity due to melanocortin 4 receptor deficiency
Oculocutaneous albinism type 2
Obesity due to pro-opiomelanocortin deficiency
Achondrogenesis type 1B
Atelosteogenesis type II
Diastrophic dwarfism
Dowling-Degos disease
Multiple epiphyseal dysplasia type 4
Retinitis pigmentosa
Synonym(s):
- ACTH resistance
Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal recessive
External references:
5 OMIM references -
No MeSH references
Gene symbol UniProt reference OMIM reference
MC2R Q01718607397
MRAP Q8TCY5609196
NNT Q13423607878
STAR P49675600617
No signs/symptoms info available.