MCID: GLC043
MIFTS: 21

Glucocorticoid Deficiency 2

Categories: Genetic diseases

Aliases & Classifications for Glucocorticoid Deficiency 2

MalaCards integrated aliases for Glucocorticoid Deficiency 2:

Name: Glucocorticoid Deficiency 2 57 75 29 13 6 40 73
Familial Glucocorticoid Deficiency 2 57 75
Gccd2 57 75
Fgd2 57 75
Familial Glucocorticoid Deficiency 2; Fgd2 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
glucocorticoid deficiency 2:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 607398
MeSH 44 D000309
SNOMED-CT via HPO 69 258211005 4830009 49765009
UMLS 73 C1846284

Summaries for Glucocorticoid Deficiency 2

UniProtKB/Swiss-Prot : 75 Glucocorticoid deficiency 2: A form of glucocorticoid deficiency, a rare autosomal recessive disorder characterized by resistance to ACTH action on the adrenal cortex, adrenal insufficiency and an inability of the adrenal cortex to produce cortisol. It usually presents in the neonatal period or in early childhood with episodes of hypoglycemia and other symptoms related to cortisol deficiency, including failure to thrive, recurrent illnesses or infections, convulsions, and shock. In a small number of patients hypoglycemia can be sufficiently severe and persistent that it leads to serious long-term neurological damage or death. The diagnosis is readily confirmed with a low plasma cortisol measurement in the presence of an elevated ACTH level, and normal aldosterone and plasma renin measurements.

MalaCards based summary : Glucocorticoid Deficiency 2, also known as familial glucocorticoid deficiency 2, is related to familial glucocorticoid deficiency and glucocorticoid deficiency 3. An important gene associated with Glucocorticoid Deficiency 2 is MRAP (Melanocortin 2 Receptor Accessory Protein). Affiliated tissues include cortex, adrenal cortex and skin, and related phenotypes are hyperpigmentation of the skin and recurrent hypoglycemia

OMIM : 57 Familial glucocorticoid deficiency is an autosomal recessive disorder resulting from resistance to the action of adrenocorticotropin (ACTH) on the adrenal cortex, which stimulates glucocorticoid production. Affected individuals are deficient in cortisol and, if untreated, are likely to succumb to hypoglycemia or overwhelming infection in infancy or childhood (summary by Metherell et al., 2005). For a general phenotypic description and a discussion of genetic heterogeneity of familial glucocorticoid deficiency, see GCCD1 (202200). (607398)

Related Diseases for Glucocorticoid Deficiency 2

Diseases related to Glucocorticoid Deficiency 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 familial glucocorticoid deficiency 28.4 GCCD2 MRAP
2 glucocorticoid deficiency 3 11.2
3 aarskog-scott syndrome 9.9

Symptoms & Phenotypes for Glucocorticoid Deficiency 2

Symptoms via clinical synopsis from OMIM:

57
Skin Nails Hair Skin:
hyperpigmentation

Laboratory Abnormalities:
hypoglycemia
elevated plasma acth
low to undetectable plasma cortisol
normal plasma renin
normal plasma aldosterone

Metabolic Features:
recurrent hypoglycemic episodes


Clinical features from OMIM:

607398

Human phenotypes related to Glucocorticoid Deficiency 2:

32
# Description HPO Frequency HPO Source Accession
1 hyperpigmentation of the skin 32 HP:0000953
2 recurrent hypoglycemia 32 HP:0001988
3 increased circulating acth level 32 HP:0003154
4 decreased circulating cortisol level 32 HP:0008163

Drugs & Therapeutics for Glucocorticoid Deficiency 2

Search Clinical Trials , NIH Clinical Center for Glucocorticoid Deficiency 2

Genetic Tests for Glucocorticoid Deficiency 2

Genetic tests related to Glucocorticoid Deficiency 2:

# Genetic test Affiliating Genes
1 Glucocorticoid Deficiency 2 29 MRAP

Anatomical Context for Glucocorticoid Deficiency 2

MalaCards organs/tissues related to Glucocorticoid Deficiency 2:

41
Cortex, Adrenal Cortex, Skin

Publications for Glucocorticoid Deficiency 2

Variations for Glucocorticoid Deficiency 2

ClinVar genetic disease variations for Glucocorticoid Deficiency 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MRAP MRAP, IVS3, G-T, +1 single nucleotide variant Pathogenic
2 MRAP MRAP, IVS3, G-C, +1 single nucleotide variant Pathogenic
3 MRAP MRAP, IVS3, G-A, +1 single nucleotide variant Pathogenic
4 MRAP MRAP, IVS3, G DEL, +1 deletion Pathogenic
5 MRAP MRAP, IVS3, T INS, +3 insertion Pathogenic
6 MRAP NM_206898.1(MRAP): c.3G> A (p.Met1Ile) single nucleotide variant Pathogenic rs80358231 GRCh37 Chromosome 21, 33671285: 33671285
7 MRAP NM_206898.1(MRAP): c.3G> A (p.Met1Ile) single nucleotide variant Pathogenic rs80358231 GRCh38 Chromosome 21, 32298974: 32298974
8 MRAP MRAP, 1-BP DEL, 128G deletion Pathogenic
9 MRAP MRAP, 7-BP DEL, NT17 deletion Pathogenic

Expression for Glucocorticoid Deficiency 2

Search GEO for disease gene expression data for Glucocorticoid Deficiency 2.

Pathways for Glucocorticoid Deficiency 2

GO Terms for Glucocorticoid Deficiency 2

Sources for Glucocorticoid Deficiency 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....