GCCD2
MCID: GLC043
MIFTS: 27

Glucocorticoid Deficiency 2 (GCCD2)

Categories: Endocrine diseases, Genetic diseases

Aliases & Classifications for Glucocorticoid Deficiency 2

MalaCards integrated aliases for Glucocorticoid Deficiency 2:

Name: Glucocorticoid Deficiency 2 57 72 29 13 6 39 70
Familial Glucocorticoid Deficiency 2 57 72
Gccd2 57 72
Fgd2 57 72
Familial Glucocorticoid Deficiency 2; Fgd2 57

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive


HPO:

31
glucocorticoid deficiency 2:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 607398
OMIM Phenotypic Series 57 PS202200
MeSH 44 D000309
SNOMED-CT via HPO 68 258211005 4830009 49765009
UMLS 70 C1846284

Summaries for Glucocorticoid Deficiency 2

UniProtKB/Swiss-Prot : 72 Glucocorticoid deficiency 2: 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 2, also known as familial glucocorticoid deficiency 2, is related to familial glucocorticoid deficiency and glucocorticoid deficiency 3. An important gene associated with Glucocorticoid Deficiency 2 is MRAP (Melanocortin 2 Receptor Accessory Protein). Affiliated tissues include cortex and adrenal cortex, and related phenotypes are recurrent hypoglycemia and hyperpigmentation of the skin

OMIM® : 57 Familial glucocorticoid deficiency is an autosomal recessive disorder resulting from resistance to the action of adrenocorticotropin (ACTH) on the adrenal cortex, which stimulates glucocorticoid production. Affected individuals are deficient in cortisol and, if untreated, are likely to succumb to hypoglycemia or overwhelming infection in infancy or childhood (summary by Metherell et al., 2005). For a general phenotypic description and a discussion of genetic heterogeneity of familial glucocorticoid deficiency, see GCCD1 (202200). (607398) (Updated 20-May-2021)

Related Diseases for Glucocorticoid Deficiency 2

Diseases related to Glucocorticoid Deficiency 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 familial glucocorticoid deficiency 30.2 MRAP-AS1 MRAP GCCD2
2 glucocorticoid deficiency 3 11.3
3 glucocorticoid deficiency 1 9.9
4 abnormal hair, joint laxity, and developmental delay 9.9
5 aarskog-scott syndrome 9.9
6 generalized epilepsy with febrile seizures plus 9.9

Graphical network of the top 20 diseases related to Glucocorticoid Deficiency 2:



Diseases related to Glucocorticoid Deficiency 2

Symptoms & Phenotypes for Glucocorticoid Deficiency 2

Human phenotypes related to Glucocorticoid Deficiency 2:

31
# Description HPO Frequency HPO Source Accession
1 recurrent hypoglycemia 31 HP:0001988
2 hyperpigmentation of the skin 31 HP:0000953
3 increased circulating acth level 31 HP:0003154
4 decreased circulating cortisol level 31 HP:0008163

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Laboratory Abnormalities:
hypoglycemia
low to undetectable plasma cortisol
elevated plasma acth
normal plasma renin
normal plasma aldosterone

Metabolic Features:
recurrent hypoglycemic episodes

Skin Nails Hair Skin:
hyperpigmentation

Clinical features from OMIM®:

607398 (Updated 20-May-2021)

Drugs & Therapeutics for Glucocorticoid Deficiency 2

Search Clinical Trials , NIH Clinical Center for Glucocorticoid Deficiency 2

Genetic Tests for Glucocorticoid Deficiency 2

Genetic tests related to Glucocorticoid Deficiency 2:

# Genetic test Affiliating Genes
1 Glucocorticoid Deficiency 2 29 MRAP

Anatomical Context for Glucocorticoid Deficiency 2

MalaCards organs/tissues related to Glucocorticoid Deficiency 2:

40
Cortex, Adrenal Cortex

Publications for Glucocorticoid Deficiency 2

Articles related to Glucocorticoid Deficiency 2:

# Title Authors PMID Year
1
Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2. 57 6
15654338 2005
2
Unusual presentation of familial glucocorticoid deficiency with a novel MRAP mutation. 6
16868047 2006
3
A novel de novo frameshift mutation in NR0B1 and low prenatal estriol in adrenal hypoplasia congenita. 61
30129976 2018
4
Effects of glucocorticoid deficiency on renal medullary cyclic adenosine monophosphate of rats. 61
219986 1978

Variations for Glucocorticoid Deficiency 2

ClinVar genetic disease variations for Glucocorticoid Deficiency 2:

6 (show all 33)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MRAP NM_178817.4(MRAP):c.106+1G>C SNV Pathogenic 1837 rs566223651 GRCh37: 21:33671389-33671389
GRCh38: 21:32299078-32299078
2 MRAP NM_178817.4(MRAP):c.106+1G>A SNV Pathogenic 1838 rs566223651 GRCh37: 21:33671389-33671389
GRCh38: 21:32299078-32299078
3 MRAP MRAP, IVS3, G DEL, +1 Deletion Pathogenic 1839 GRCh37:
GRCh38:
4 MRAP MRAP, IVS3, T INS, +3 Insertion Pathogenic 1840 GRCh37:
GRCh38:
5 MRAP NM_178817.4(MRAP):c.3G>A (p.Met1Ile) SNV Pathogenic 1841 rs80358231 GRCh37: 21:33671285-33671285
GRCh38: 21:32298974-32298974
6 MRAP-AS1 , MRAP NM_001285394.2(MRAP):c.-48del Deletion Pathogenic 1842 rs760615045 GRCh37: 21:33678972-33678972
GRCh38: 21:32306661-32306661
7 MRAP NM_001285394.2(MRAP):c.-72+5856_-72+5862del Deletion Pathogenic 1843 rs1569025178 GRCh37: 21:33671299-33671305
GRCh38: 21:32298988-32298994
8 MRAP NM_178817.4(MRAP):c.106+1G>T SNV Pathogenic 1836 rs566223651 GRCh37: 21:33671389-33671389
GRCh38: 21:32299078-32299078
9 URB1 , MRAP NM_014825.3(URB1):c.*2933A>T SNV Uncertain significance 339686 rs142897309 GRCh37: 21:33684296-33684296
GRCh38: 21:32311985-32311985
10 MRAP NM_178817.4(MRAP):c.106+15G>C SNV Uncertain significance 339676 rs746170274 GRCh37: 21:33671403-33671403
GRCh38: 21:32299092-32299092
11 MRAP-AS1 , MRAP NM_178817.4(MRAP):c.107-5C>T SNV Uncertain significance 896509 GRCh37: 21:33678946-33678946
GRCh38: 21:32306635-32306635
12 MRAP-AS1 , MRAP NM_178817.4(MRAP):c.126C>T (p.Phe42=) SNV Uncertain significance 896510 GRCh37: 21:33678970-33678970
GRCh38: 21:32306659-32306659
13 URB1 , MRAP NM_014825.3(URB1):c.*3170G>T SNV Uncertain significance 898129 GRCh37: 21:33684059-33684059
GRCh38: 21:32311748-32311748
14 URB1 , MRAP NM_014825.3(URB1):c.*2990C>T SNV Uncertain significance 898130 GRCh37: 21:33684239-33684239
GRCh38: 21:32311928-32311928
15 URB1 , MRAP NM_014825.3(URB1):c.*2908A>T SNV Uncertain significance 899239 GRCh37: 21:33684321-33684321
GRCh38: 21:32312010-32312010
16 URB1 , MRAP NM_014825.3(URB1):c.*2741C>T SNV Uncertain significance 899240 GRCh37: 21:33684488-33684488
GRCh38: 21:32312177-32312177
17 URB1 , MRAP NM_014825.3(URB1):c.*2725A>G SNV Uncertain significance 899241 GRCh37: 21:33684504-33684504
GRCh38: 21:32312193-32312193
18 MRAP-AS1 , MRAP NM_178817.4(MRAP):c.206+13G>C SNV Uncertain significance 339679 rs749474036 GRCh37: 21:33679063-33679063
GRCh38: 21:32306752-32306752
19 URB1 , MRAP NM_014825.3(URB1):c.*2955G>C SNV Uncertain significance 339685 rs146788457 GRCh37: 21:33684274-33684274
GRCh38: 21:32311963-32311963
20 MRAP NM_178817.4(MRAP):c.-157G>A SNV Uncertain significance 339671 rs886057000 GRCh37: 21:33664154-33664154
GRCh38: 21:32291843-32291843
21 URB1 , MRAP NM_014825.3(URB1):c.*3222C>T SNV Uncertain significance 339680 rs201238667 GRCh37: 21:33684007-33684007
GRCh38: 21:32311696-32311696
22 MRAP NM_178817.4(MRAP):c.-156C>T SNV Uncertain significance 339672 rs886057001 GRCh37: 21:33664155-33664155
GRCh38: 21:32291844-32291844
23 MRAP-AS1 , MRAP NM_178817.4(MRAP):c.148G>A (p.Val50Met) SNV Likely benign 339678 rs75858661 GRCh37: 21:33678992-33678992
GRCh38: 21:32306681-32306681
24 URB1 , MRAP NM_014825.3(URB1):c.*2995T>C SNV Likely benign 339684 rs200448756 GRCh37: 21:33684234-33684234
GRCh38: 21:32311923-32311923
25 MRAP NM_178817.4(MRAP):c.-91C>T SNV Likely benign 895069 GRCh37: 21:33665363-33665363
GRCh38: 21:32293052-32293052
26 MRAP NM_178817.4(MRAP):c.-67C>T SNV Likely benign 895070 GRCh37: 21:33665387-33665387
GRCh38: 21:32293076-32293076
27 MRAP NM_178817.4(MRAP):c.-130A>G SNV Benign 339673 rs114474088 GRCh37: 21:33665324-33665324
GRCh38: 21:32293013-32293013
28 MRAP NM_178817.4(MRAP):c.-20G>C SNV Benign 339675 rs76147109 GRCh37: 21:33665434-33665434
GRCh38: 21:32293123-32293123
29 URB1 , MRAP NM_014825.3(URB1):c.*3207G>C SNV Benign 339681 rs79126334 GRCh37: 21:33684022-33684022
GRCh38: 21:32311711-32311711
30 URB1 , MRAP NM_014825.3(URB1):c.*2814T>C SNV Benign 339687 rs2833761 GRCh37: 21:33684415-33684415
GRCh38: 21:32312104-32312104
31 URB1 , MRAP NM_014825.3(URB1):c.*3051G>C SNV Benign 339683 rs17855143 GRCh37: 21:33684178-33684178
GRCh38: 21:32311867-32311867
32 MRAP-AS1 , MRAP NM_178817.4(MRAP):c.132G>T (p.Val44=) SNV Benign 339677 rs17855142 GRCh37: 21:33678976-33678976
GRCh38: 21:32306665-32306665
33 URB1 , MRAP NM_014825.3(URB1):c.*3052G>A SNV Benign 339682 rs114530014 GRCh37: 21:33684177-33684177
GRCh38: 21:32311866-32311866

Expression for Glucocorticoid Deficiency 2

Search GEO for disease gene expression data for Glucocorticoid Deficiency 2.

Pathways for Glucocorticoid Deficiency 2

GO Terms for Glucocorticoid Deficiency 2

Sources for Glucocorticoid Deficiency 2

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
Content
Loading form....