MCID: GLC107
MIFTS: 13

Glucocorticoid Deficiency 5

Categories: Genetic diseases

Aliases & Classifications for Glucocorticoid Deficiency 5

MalaCards integrated aliases for Glucocorticoid Deficiency 5:

Name: Glucocorticoid Deficiency 5 57 75 29 6
Gccd5 57 75

Characteristics:

OMIM:

57
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 57 617825
MeSH 44 D000309

Summaries for Glucocorticoid Deficiency 5

UniProtKB/Swiss-Prot : 75 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 adrenal cortex and cortex.

OMIM : 57 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:

57
Skin Nails Hair Skin:
hyperpigmentation during febrile illness

Endocrine Features:
low serum cortisol
elevated plasma acth
acth resistance


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 29

Anatomical Context for Glucocorticoid Deficiency 5

MalaCards organs/tissues related to Glucocorticoid Deficiency 5:

41
Adrenal Cortex, Cortex

Publications for Glucocorticoid Deficiency 5

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_006440.4(TXNRD2): c.1341T> G (p.Tyr447Ter) single nucleotide variant Uncertain significance rs202059967 GRCh38 Chromosome 22, 19878372: 19878372
2 TXNRD2 NM_006440.4(TXNRD2): c.1341T> G (p.Tyr447Ter) single nucleotide variant Uncertain significance 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 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
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