MCID: GLC053
MIFTS: 16

Glucocorticoid Deficiency 3

Categories: Genetic diseases

Aliases & Classifications for Glucocorticoid Deficiency 3

MalaCards integrated aliases for Glucocorticoid Deficiency 3:

Name: Glucocorticoid Deficiency 3 57 13 73
Glucocorticoid Deficiency 2, Formerly; Gccd2, Formerly 57
Familial Glucocorticoid Deficiency 3; Fgd3 57
Glucocorticoid Deficiency 2, Formerly 57
Familial Glucocorticoid Deficiency 3 57
Gccd2, Formerly 57
Gccd3 57
Fgd3 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
glucocorticoid deficiency 3:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 609197
MedGen 42 C1836621
SNOMED-CT via HPO 69 258211005 4830009 49765009
UMLS 73 C1836621

Summaries for Glucocorticoid Deficiency 3

OMIM : 57 Familial isolated glucocorticoid deficiency is an adrenocortical failure characterized by very low levels of plasma cortisol despite high levels of plasma adrenocorticotropin (ACTH). Moreover, the adrenal response to ACTH is severely impaired. There is no mineralocorticoid deficiency and the renin-angiotensin system is not affected (summary by Genin et al., 2002). For a general phenotypic description and a discussion of genetic heterogeneity of familial glucocorticoid deficiency, see GCCD1 (202200). (609197)

MalaCards based summary : Glucocorticoid Deficiency 3, also known as glucocorticoid deficiency 2, formerly; gccd2, formerly, is related to aarskog-scott syndrome and familial glucocorticoid deficiency. An important gene associated with Glucocorticoid Deficiency 3 is GCCD3 (Glucocorticoid Deficiency 3). Affiliated tissues include skin, and related phenotypes are hyperpigmentation of the skin and recurrent hypoglycemia

Related Diseases for Glucocorticoid Deficiency 3

Diseases related to Glucocorticoid Deficiency 3 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 aarskog-scott syndrome 11.5
2 familial glucocorticoid deficiency 11.1
3 skeletal dysplasias 9.9

Symptoms & Phenotypes for Glucocorticoid Deficiency 3

Symptoms via clinical synopsis from OMIM:

57
Skin Nails Hair Skin:
hyperpigmentation

Laboratory Abnormalities:
hypoglycemia
elevated plasma adrenocorticotropic hormone (acth)
low plasma cortisol
normal plasma aldosterone
normal plasma renin

Metabolic Features:
hypoglycemic episodes


Clinical features from OMIM:

609197

Human phenotypes related to Glucocorticoid Deficiency 3:

32
# Description HPO Frequency HPO Source Accession
1 hyperpigmentation of the skin 32 HP:0000953
2 recurrent hypoglycemia 32 HP:0001988

Drugs & Therapeutics for Glucocorticoid Deficiency 3

Search Clinical Trials , NIH Clinical Center for Glucocorticoid Deficiency 3

Genetic Tests for Glucocorticoid Deficiency 3

Anatomical Context for Glucocorticoid Deficiency 3

MalaCards organs/tissues related to Glucocorticoid Deficiency 3:

41
Skin

Publications for Glucocorticoid Deficiency 3

Variations for Glucocorticoid Deficiency 3

Expression for Glucocorticoid Deficiency 3

Search GEO for disease gene expression data for Glucocorticoid Deficiency 3.

Pathways for Glucocorticoid Deficiency 3

GO Terms for Glucocorticoid Deficiency 3

Sources for Glucocorticoid Deficiency 3

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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