GCCD5
MCID: GLC107
MIFTS: 14

Glucocorticoid Deficiency 5 (GCCD5)

Categories: Endocrine diseases, Genetic diseases

Aliases & Classifications for Glucocorticoid Deficiency 5

MalaCards integrated aliases for Glucocorticoid Deficiency 5:

Name: Glucocorticoid Deficiency 5 58 76 30 6
Gccd5 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
laboratory abnormalities noted in infancy may normalize transiently in childhood
based on report of 1 large consanguineous kashmiri family (last curated december 2017)


Classifications:



External Ids:

OMIM 58 617825
MeSH 45 D000309

Summaries for Glucocorticoid Deficiency 5

UniProtKB/Swiss-Prot : 76 Glucocorticoid deficiency 5: 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 5, is also known as gccd5. An important gene associated with Glucocorticoid Deficiency 5 is TXNRD2 (Thioredoxin Reductase 2). Affiliated tissues include cortex and adrenal cortex.

OMIM : 58 Familial glucocorticoid deficiency-5 is characterized by resistance to adrenocorticotropic hormone (ACTH) and isolated glucocorticoid deficiency, with typical biochemical findings of low serum cortisol levels and high plasma ACTH. Patients commonly present with hyperpigmentation (Prasad et al., 2014). For a discussion of genetic heterogeneity of familial glucocorticoid deficiency, see GCCD1 (202200). (617825)

Related Diseases for Glucocorticoid Deficiency 5

Symptoms & Phenotypes for Glucocorticoid Deficiency 5

Symptoms via clinical synopsis from OMIM:

58
Endocrine Features:
low serum cortisol
elevated plasma acth
acth resistance

Skin Nails Hair Skin:
hyperpigmentation during febrile illness

Clinical features from OMIM:

617825

Drugs & Therapeutics for Glucocorticoid Deficiency 5

Search Clinical Trials , NIH Clinical Center for Glucocorticoid Deficiency 5

Genetic Tests for Glucocorticoid Deficiency 5

Genetic tests related to Glucocorticoid Deficiency 5:

# Genetic test Affiliating Genes
1 Glucocorticoid Deficiency 5 30 TXNRD2

Anatomical Context for Glucocorticoid Deficiency 5

MalaCards organs/tissues related to Glucocorticoid Deficiency 5:

42
Cortex, Adrenal Cortex

Publications for Glucocorticoid Deficiency 5

Articles related to Glucocorticoid Deficiency 5:

# Title Authors Year
1
Thioredoxin Reductase 2 (TXNRD2) mutation associated with familial glucocorticoid deficiency (FGD). ( 24601690 )
2014

Variations for Glucocorticoid Deficiency 5

ClinVar genetic disease variations for Glucocorticoid Deficiency 5:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TXNRD2 NM_006440.5(TXNRD2): c.1341T> G (p.Tyr447Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs202059967 GRCh38 Chromosome 22, 19878372: 19878372
2 TXNRD2 NM_006440.5(TXNRD2): c.1341T> G (p.Tyr447Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs202059967 GRCh37 Chromosome 22, 19865895: 19865895

Expression for Glucocorticoid Deficiency 5

Search GEO for disease gene expression data for Glucocorticoid Deficiency 5.

Pathways for Glucocorticoid Deficiency 5

GO Terms for Glucocorticoid Deficiency 5

Sources for Glucocorticoid Deficiency 5

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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