GCCD3
MCID: GLC053
MIFTS: 20

Glucocorticoid Deficiency 3 (GCCD3)

Categories: Genetic diseases

Aliases & Classifications for Glucocorticoid Deficiency 3

MalaCards integrated aliases for Glucocorticoid Deficiency 3:

Name: Glucocorticoid Deficiency 3 57 13 70
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 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


HPO:

31
glucocorticoid deficiency 3:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 609197
OMIM Phenotypic Series 57 PS202200
MedGen 41 C1836621
SNOMED-CT via HPO 68 258211005 4830009 49765009
UMLS 70 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) (Updated 05-Apr-2021)

MalaCards based summary : Glucocorticoid Deficiency 3, also known as glucocorticoid deficiency 2, formerly; gccd2, formerly, is related to aarskog-scott syndrome and charcot-marie-tooth disease, type 4h. An important gene associated with Glucocorticoid Deficiency 3 is GCCD3 (Glucocorticoid Deficiency 3). Affiliated tissues include breast, lung and thyroid, and related phenotypes are recurrent hypoglycemia and hyperpigmentation of the skin

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 11.1
2 charcot-marie-tooth disease, type 4h 10.9
3 familial glucocorticoid deficiency 10.9
4 breast cancer 10.1
5 abnormal hair, joint laxity, and developmental delay 9.9
6 generalized epilepsy with febrile seizures plus 9.9

Graphical network of the top 20 diseases related to Glucocorticoid Deficiency 3:



Diseases related to Glucocorticoid Deficiency 3

Symptoms & Phenotypes for Glucocorticoid Deficiency 3

Human phenotypes related to Glucocorticoid Deficiency 3:

31
# Description HPO Frequency HPO Source Accession
1 recurrent hypoglycemia 31 HP:0001988
2 hyperpigmentation of the skin 31 HP:0000953

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Laboratory Abnormalities:
hypoglycemia
normal plasma renin
normal plasma aldosterone
elevated plasma adrenocorticotropic hormone (acth)
low plasma cortisol

Metabolic Features:
hypoglycemic episodes

Skin Nails Hair Skin:
hyperpigmentation

Clinical features from OMIM®:

609197 (Updated 05-Apr-2021)

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:

40
Breast, Lung, Thyroid, Cervix

Publications for Glucocorticoid Deficiency 3

Articles related to Glucocorticoid Deficiency 3:

(show all 22)
# Title Authors PMID Year
1
Linkage of one gene for familial glucocorticoid deficiency type 2 (FGD2) to chromosome 8q and further evidence of heterogeneity. 57
12384787 2002
2
FGD3 Gene as a New Prognostic Factor in Breast Cancer. 61
32620603 2020
3
Comprehensive Analysis of Aberrantly Expressed Profiles of lncRNAs and miRNAs with Associated ceRNA Network in Lung Adenocarcinoma and Lung Squamous Cell Carcinoma. 61
31898160 2020
4
Long Noncoding RNA FGD5-AS1 Promotes Glioma Cell Proliferation, Migration and Invasion by Regulating wnt/β-Catenin Pathway. 61
32801867 2020
5
The prognostic value of faciogenital dysplasias as biomarkers in head and neck squamous cell carcinoma. 61
31596126 2019
6
Expression of FGD3 gene as prognostic factor in young breast cancer patients. 61
31645624 2019
7
Isolated glucocorticoid deficiency: Genetic causes and animal models. 61
30817990 2019
8
Tswana traditional health practitioners' perspectives on the management of diabetes and hypertension: a qualitative study using focus group discussions. 61
31934236 2019
9
Machine Learning Classifiers for Endometriosis Using Transcriptomics and Methylomics Data. 61
31552087 2019
10
Screening and validation of differentially expressed extracellular miRNAs in acute pancreatitis. 61
28849189 2017
11
The preterm cervix reveals a transcriptomic signature in the presence of premature prelabor rupture of membranes. 61
28209491 2017
12
High Expression of FGD3, a Putative Regulator of Cell Morphology and Motility, Is Prognostic of Favorable Outcome in Multiple Cancers. 61
32913979 2017
13
RNA-seq analysis of impact of PNN on gene expression and alternative splicing in corneal epithelial cells. 61
26900324 2016
14
Non-synonymous FGD3 Variant as Positional Candidate for Disproportional Tall Stature Accounting for a Carcass Weight QTL (CW-3) and Skeletal Dysplasia in Japanese Black Cattle. 61
26306008 2015
15
Breast cancer prognostic biomarker using attractor metagenes and the FGD3-SUSD3 metagene. 61
25249324 2014
16
Convergent evolution of adenosine aptamers spanning bacterial, human, and random sequences revealed by structure-based bioinformatics and genomic SELEX. 61
23102219 2012
17
Role of FGD1, a Cdc42 guanine nucleotide exchange factor, in epidermal growth factor-stimulated c-Jun NH2-terminal kinase activation and cell migration. 61
21212517 2011
18
Proline-rich domain plays a crucial role in extracellular stimuli-responsive translocation of a Cdc42 guanine nucleotide exchange factor, FGD1. 61
20045932 2010
19
Frabin and other related Cdc42-specific guanine nucleotide exchange factors couple the actin cytoskeleton with the plasma membrane. 61
18410521 2008
20
Novel insights into FGD3, a putative GEF for Cdc42, that undergoes SCF(FWD1/beta-TrCP)-mediated proteasomal degradation analogous to that of its homologue FGD1 but regulates cell morphology and motility differently from FGD1. 61
18363964 2008
21
Follicular thyroid tumors with the PAX8-PPARgamma1 rearrangement display characteristic genetic alterations. 61
15972966 2005
22
Isolation, characterization, and mapping of the mouse Fgd3 gene, a new Faciogenital Dysplasia (FGD1; Aarskog Syndrome) gene homologue. 61
10721717 2000

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 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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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