GCCD5
MCID: GLC107
MIFTS: 16

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 57 72 29 6
Gccd5 57 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
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)


HPO:

31
glucocorticoid deficiency 5:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 617825
OMIM Phenotypic Series 57 PS202200
MeSH 44 D000309
SNOMED-CT via HPO 68 258211005 4830009 49765009

Summaries for Glucocorticoid Deficiency 5

UniProtKB/Swiss-Prot : 72 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, and related phenotypes are hyperpigmentation of the skin and decreased circulating cortisol level

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) (Updated 20-May-2021)

Related Diseases for Glucocorticoid Deficiency 5

Symptoms & Phenotypes for Glucocorticoid Deficiency 5

Human phenotypes related to Glucocorticoid Deficiency 5:

31
# Description HPO Frequency HPO Source Accession
1 hyperpigmentation of the skin 31 very rare (1%) HP:0000953
2 decreased circulating cortisol level 31 very rare (1%) HP:0008163
3 abnormal response to acth stimulation test 31 HP:0031074

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Endocrine Features:
low serum cortisol
elevated plasma acth
acth resistance

Skin Nails Hair Skin:
hyperpigmentation during febrile illness

Clinical features from OMIM®:

617825 (Updated 20-May-2021)

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 TXNRD2

Anatomical Context for Glucocorticoid Deficiency 5

MalaCards organs/tissues related to Glucocorticoid Deficiency 5:

40
Cortex, Adrenal Cortex

Publications for Glucocorticoid Deficiency 5

Articles related to Glucocorticoid Deficiency 5:

# Title Authors PMID Year
1
Thioredoxin Reductase 2 (TXNRD2) mutation associated with familial glucocorticoid deficiency (FGD). 6 57
24601690 2014

Variations for Glucocorticoid Deficiency 5

ClinVar genetic disease variations for Glucocorticoid Deficiency 5:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TXNRD2 NM_006440.5(TXNRD2):c.1341T>G (p.Tyr447Ter) SNV Likely pathogenic 264269 rs202059967 GRCh37: 22:19865895-19865895
GRCh38: 22:19878372-19878372
2 TXNRD2 NM_006440.5(TXNRD2):c.760C>T (p.Arg254Cys) SNV Uncertain significance 392373 rs183950022 GRCh37: 22:19885576-19885576
GRCh38: 22:19898053-19898053

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
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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