GCCD2
MCID: GLC043
MIFTS: 22

Glucocorticoid Deficiency 2 (GCCD2)

Categories: Endocrine diseases, Genetic diseases

Aliases & Classifications for Glucocorticoid Deficiency 2

MalaCards integrated aliases for Glucocorticoid Deficiency 2:

Name: Glucocorticoid Deficiency 2 58 76 30 13 6 41 74
Familial Glucocorticoid Deficiency 2 58 76
Gccd2 58 76
Fgd2 58 76
Familial Glucocorticoid Deficiency 2; Fgd2 58

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
glucocorticoid deficiency 2:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 607398
MeSH 45 D000309
SNOMED-CT via HPO 70 258211005 4830009 49765009
UMLS 74 C1846284

Summaries for Glucocorticoid Deficiency 2

UniProtKB/Swiss-Prot : 76 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 increased circulating acth level and decreased circulating cortisol level

OMIM : 58 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 31.0 GCCD2 MRAP
2 glucocorticoid deficiency 3 11.4
3 aarskog-scott syndrome 10.1

Symptoms & Phenotypes for Glucocorticoid Deficiency 2

Human phenotypes related to Glucocorticoid Deficiency 2:

33
# Description HPO Frequency HPO Source Accession
1 increased circulating acth level 33 HP:0003154
2 decreased circulating cortisol level 33 HP:0008163
3 recurrent hypoglycemia 33 HP:0001988
4 hyperpigmentation of the skin 33 HP:0000953

Symptoms via clinical synopsis from OMIM:

58
Laboratory Abnormalities:
hypoglycemia
low to undetectable plasma cortisol
elevated plasma acth
normal plasma renin
normal plasma aldosterone

Metabolic Features:
recurrent hypoglycemic episodes

Skin Nails Hair Skin:
hyperpigmentation

Clinical features from OMIM:

607398

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 30 MRAP

Anatomical Context for Glucocorticoid Deficiency 2

MalaCards organs/tissues related to Glucocorticoid Deficiency 2:

42
Cortex, Adrenal Cortex, Skin

Publications for Glucocorticoid Deficiency 2

Articles related to Glucocorticoid Deficiency 2:

# Title Authors Year
1
Unusual presentation of familial glucocorticoid deficiency with a novel MRAP mutation. ( 16868047 )
2006
2
Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2. ( 15654338 )
2005

Variations for Glucocorticoid Deficiency 2

ClinVar genetic disease variations for Glucocorticoid Deficiency 2:

6 (show all 11)
# 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 NM_206898.1(MRAP): c.130del (p.Val44Terfs) deletion Pathogenic GRCh38 Chromosome 21, 32306663: 32306663
9 MRAP NM_206898.1(MRAP): c.130del (p.Val44Terfs) deletion Pathogenic GRCh37 Chromosome 21, 33678974: 33678974
10 MRAP NM_206898.1(MRAP): c.17_23del (p.Asn6Metfs) deletion Pathogenic GRCh38 Chromosome 21, 32298988: 32298994
11 MRAP NM_206898.1(MRAP): c.17_23del (p.Asn6Metfs) deletion Pathogenic GRCh37 Chromosome 21, 33671299: 33671305

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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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