MCID: FML063
MIFTS: 42

Familial Glucocorticoid Deficiency malady

Genetic diseases, Rare diseases categories
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Summaries for Familial Glucocorticoid Deficiency

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Wikipedia:65 Familial glucocorticoid deficiency (FGD or GCCD) is an adrenocortical failure characterized by low... more...

MalaCards based summary: Familial Glucocorticoid Deficiency, also known as acth resistance, is related to achalasia and pituitary adenoma. An important gene associated with Familial Glucocorticoid Deficiency is MRAP (melanocortin 2 receptor accessory protein), and among its related pathways are Metabolism of steroid hormones and vitamin D and Corticotropin-releasing hormone. The compounds [d-trp8]-gamma-msh and alpha-msh have been mentioned in the context of this disorder. Affiliated tissues include adrenal gland and pituitary, and related mouse phenotypes are endocrine/exocrine gland and homeostasis/metabolism.

Aliases & Classifications for Familial Glucocorticoid Deficiency

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Sources:
42NIH Rare Diseases, 22GTR, 44Novoseek, 62UMLS
See all sources

Familial Glucocorticoid Deficiency, Aliases & Descriptions:

Name: Familial Glucocorticoid Deficiency 42
Acth Resistance 42 22 44
 
Glucocorticoid Deficiency 1 62


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases


Related Diseases for Familial Glucocorticoid Deficiency

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Diseases related to Familial Glucocorticoid Deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 38)
idRelated DiseaseScoreTop Affiliating Genes
1achalasia30.5POMC, MC2R
2pituitary adenoma30.0NR0B1, POMC, MC2R
3adenoma29.7MC2R, POMC, REN, NR0B1
4addison's disease29.4NR0B1, STAR, REN, POMC, MC2R
5congenital adrenal hyperplasia29.4MC2R, POMC, REN, STAR, NR0B1
6glucocorticoid deficiency 210.5MRAP
7lipoid adrenal hyperplasia10.4STAR
8glucocorticoid deficiency, due to acth unresponsiveness10.3
9ovarian disease10.3STAR
10glucocorticoid deficiency 410.3
11acute adrenal insufficiency10.3POMC
12adrenal carcinoma10.2POMC
13x-linked adrenal hypoplasia congenita10.2NR0B1, STAR
14adrenocortical carcinoma10.2POMC
15triple-a syndrome10.1POMC, MC2R
16focal segmental glomerulosclerosis10.1
17rickets10.1
18dementia10.1
19glomerulosclerosis10.1
20neuropathy10.1
21glucocorticoid deficiency 110.1
22short stature10.1
23pyridoxine-refractory autosomal recessive sideroblastic anemia10.1NR0B1, STAR
24west syndrome10.0
25cushing's syndrome10.0REN, POMC
26glucocorticoid-remediable aldosteronism10.0REN, POMC
27adrenoleukodystrophy10.0NR0B1, REN
28hypoaldosteronism10.0REN, POMC
29precocious puberty10.0NR0B1, POMC
30conn's syndrome10.0POMC, REN
31hyperaldosteronism10.0REN, POMC
32adrenal adenoma9.9MC2R, POMC, REN
33polycystic ovary syndrome9.9STAR, POMC
34hypokalemia9.9POMC, REN
35leydig cell tumor9.9POMC, STAR, NR0B1
36hypogonadism9.8NR0B1, POMC
37obesity9.7MC2R, POMC, STAR, NR0B1
38adrenal cortical adenoma9.5MC2R, POMC, REN, STAR, NR0B1

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



Diseases related to familial glucocorticoid deficiency

Symptoms for Familial Glucocorticoid Deficiency

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Drugs & Therapeutics for Familial Glucocorticoid Deficiency

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Drug clinical trials:

Search ClinicalTrials for Familial Glucocorticoid Deficiency

Search NIH Clinical Center for Familial Glucocorticoid Deficiency

Genetic Tests for Familial Glucocorticoid Deficiency

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Genetic tests related to Familial Glucocorticoid Deficiency:

id Genetic test Affiliating Genes
1 Acth Resistance22

Anatomical Context for Familial Glucocorticoid Deficiency

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MalaCards organs/tissues related to Familial Glucocorticoid Deficiency:

32
Adrenal gland, Pituitary

Animal Models for Familial Glucocorticoid Deficiency or affiliated genes

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MGI Mouse Phenotypes related to Familial Glucocorticoid Deficiency:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053798.4NR0B1, STAR, POMC, MC2R, NNT
2MP:00053767.1NR0B1, NNT, MRAP2, MC2R, POMC, REN

Publications for Familial Glucocorticoid Deficiency

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Articles related to Familial Glucocorticoid Deficiency:

(show top 50)    (show all 58)
idTitleAuthorsYear
1
Thioredoxin Reductase 2 (TXNRD2) mutation associated with familial glucocorticoid deficiency (FGD). (24601690)
2014
2
Neonatal hyperpigmentation: diagnosis of familial glucocorticoid deficiency with a novel mutation in the melanocortin-2 receptor gene. (24224542)
2014
3
Familial glucocorticoid deficiency: a diagnostic challenge during acute illness. (23708259)
2013
4
Familial glucocorticoid deficiency: New genes and mechanisms. (23279877)
2013
5
An atypical case of familial glucocorticoid deficiency without pigmentation caused by coexistent homozygous mutations in MC2R (T152K) and MC1R (R160W). (22337906)
2012
6
Mutations in NNT encoding nicotinamide nucleotide transhydrogenase cause familial glucocorticoid deficiency. (22634753)
2012
7
Familial glucocorticoid deficiency presenting with generalized hyperpigmentation in adolescence. Report of three siblings. (23565437)
2012
8
A case report: Familial glucocorticoid deficiency associated with familial focal segmental glomerulosclerosis. (23232022)
2012
9
Neonatal presentation of familial glucocorticoid deficiency resulting from a novel splice mutation in the melanocortin 2 receptor accessory protein. (21951701)
2011
10
A novel mutation in the MC2R gene causing familial glucocorticoid deficiency type 1. (21701219)
2011
11
Isolated Addison's disease is unlikely to be caused by mutations in MC2R, MRAP or STAR, three genes responsible for familial glucocorticoid deficiency. (19903795)
2010
12
Missense mutations in the melanocortin 2 receptor accessory protein that lead to late onset familial glucocorticoid deficiency type 2. (20427498)
2010
13
Familial glucocorticoid deficiency type 2: a case report. (21274326)
2010
14
Phenotypic characteristics of familial glucocorticoid deficiency (FGD) type 1 and 2. (19558534)
2010
15
Familial glucocorticoid deficiency with a point mutation in the ACTH receptor: a case report. (19795005)
2009
16
Homozygous nonsense and frameshift mutations of the ACTH receptor in children with familial glucocorticoid deficiency (FGD) are not associated with long-term mineralocorticoid deficiency. (19170705)
2009
17
Nonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiency. (19773404)
2009
18
A corticotroph pituitary adenoma as the initial presentation of familial glucocorticoid deficiency. (19423561)
2009
19
The genetics of familial glucocorticoid deficiency. (19500760)
2009
20
A novel variant of familial glucocorticoid deficiency prevalent among the Irish Traveler population. (18430777)
2008
21
Familial glucocorticoid deficiency: advances in the molecular understanding of ACTH action. (18059087)
2008
22
A novel adrenocorticotropin receptor mutation alters its structure and function, causing familial glucocorticoid deficiency. (18492762)
2008
23
Familial glucocorticoid deficiency type 1 due to a novel compound heterozygous MC2R mutation. (18504396)
2008
24
Clinical and biological phenotype of a patient with familial glucocorticoid deficiency type 2 caused by a mutation of melanocortin 2 receptor accessory protein. (17893271)
2007
25
Novel compound heterozygous mutation of the MC2R gene in a patient with familial glucocorticoid deficiency. (17128565)
2006
26
Unusual presentation of familial glucocorticoid deficiency with a novel MRAP mutation. (16868047)
2006
27
Possible relationship between elevated plasma ACTH and tall stature in familial glucocorticoid deficiency. (15673970)
2005
28
Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2. (15654338)
2005
29
A novel presentation of familial glucocorticoid deficiency (FGD) and current literature review. (14960026)
2004
30
Familial glucocorticoid deficiency type 2 in two neonates. (12556930)
2003
31
Functional relationships between three novel homozygous mutations in the ACTH receptor gene and familial glucocorticoid deficiency. (12110946)
2002
32
Familial glucocorticoid deficiency syndromes. (12212552)
2002
33
Linkage of one gene for familial glucocorticoid deficiency type 2 (FGD2) to chromosome 8q and further evidence of heterogeneity. (12384787)
2002
34
Tall stature in familial glucocorticoid deficiency. (11012566)
2000
35
Exclusion of the adrenocorticotropin (ACTH) receptor (MC2R) locus in some families with ACTH resistance but no mutations of the MC2R coding sequence (familial glucocorticoid deficiency type 2). (9768670)
1998
36
ACTH receptor, ACTH receptor anomaly, and familial glucocorticoid deficiency]. (9702062)
1998
37
ACTH receptor mutation in a girl with familial glucocorticoid deficiency. (9550364)
1998
38
Diminished adrenal androgen secretion in familial glucocorticoid deficiency implicates a significant role for ACTH in the induction of adrenarche. (9196605)
1997
39
Familial glucocorticoid deficiency: one syndrome, but more than one gene. (9231879)
1997
40
Adrenocorticotropin receptor gene mutations in familial glucocorticoid deficiency: relationships with clinical features in four families. (7829641)
1995
41
Familial glucocorticoid deficiency associated with point mutation in the adrenocorticotropin receptor. (8094489)
1993
42
Functional characterization of the cloned human ACTH receptor: impaired responsiveness of a mutant receptor in familial glucocorticoid deficiency. (8250922)
1993
43
Adrenocorticotropin receptor in familial glucocorticoid deficiency]. (8254933)
1993
44
Familial glucocorticoid deficiency with achalasia of the cardia associated with mixed neuropathy, long-tract degeneration and mild dementia. (1537368)
1992
45
Familial glucocorticoid deficiency in a girl with familial hypophosphatemic rickets. (3394683)
1988
46
Familial glucocorticoid deficiency. (619277)
1978
47
Familial glucocorticoid deficiency with achalasia of the cardia and deficient tear production. (78049)
1978
48
Absent aldosterone response to ACTH in familial glucocorticoid deficiency. (198655)
1977
49
Familial glucocorticoid deficiency. Studies of diagnosis and pathogenesis. (238474)
1975
50
Proceedings: Familial glucocorticoid deficiency. (4374490)
1974

Variations for Familial Glucocorticoid Deficiency

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Expression for genes affiliated with Familial Glucocorticoid Deficiency

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Expression patterns in normal tissues for genes affiliated with Familial Glucocorticoid Deficiency

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

Pathways for genes affiliated with Familial Glucocorticoid Deficiency

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Pathways related to Familial Glucocorticoid Deficiency according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.5STAR, POMC
29.5STAR, POMC
39.5REN, MC2R
4
Show member pathways
9.3REN, POMC

Compounds for genes affiliated with Familial Glucocorticoid Deficiency

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Compounds related to Familial Glucocorticoid Deficiency according to GeneCards/GeneDecks:

(show all 44)
idCompoundScoreTop Affiliating Genes
1[d-trp8]-gamma-msh6110.0MC2R, POMC
2alpha-msh61 2811.0MC2R, POMC
3hs 0146110.0MC2R, POMC
4pg 1066110.0MC2R, POMC
5shu 911961 4411.0POMC, MC2R
6acth 1-244410.0POMC, MC2R
7aminoglutethimide44 1111.0MC2R, POMC
8metyrapone44 61 1112.0POMC, MC2R
9dehydroepiandrosterone sulfate449.9MC2R, POMC
1018-hydroxycorticosterone44 2410.8POMC, REN
11digoxin44 61 50 24 1113.7STAR, REN
12fludrocortisone44 28 1111.7REN, POMC
1311 deoxycortisol449.7REN, POMC
14doca449.7REN, POMC
15ang ii449.7STAR, REN
1617-hydroxyprogesterone44 2410.7POMC, REN
173beta-hydroxysteroid449.7MC2R, POMC, STAR
18dhea449.6STAR, POMC, MC2R
19spironolactone44 61 28 50 1113.6REN, POMC
20desmopressin44 61 28 1112.6REN, POMC
21progestin449.6STAR, POMC
22furosemide44 61 28 50 24 1114.6POMC, REN
23ribonucleic acid449.5STAR, POMC, MC2R
24gnrh449.5NR0B1, STAR, POMC
25clonidine44 50 28 1112.5REN, POMC
2611beta-hydroxysteroid449.4REN, POMC, MC2R
27cyclic amp44 2410.4MC2R, STAR, NR0B1
28hydrocortisone44 2 61 1112.4MC2R, POMC, REN
29potassium44 24 1111.4STAR, REN, MC2R
30adenylate449.3STAR, POMC, MC2R
31catecholamine449.3REN, POMC
32corticosterone44 61 2411.3POMC, REN, STAR
33testosterone44 61 24 1112.2NR0B1, STAR, POMC, MC2R
34haloperidol44 50 28 2 1113.2REN, POMC
35cholesterol44 28 24 1112.1MC2R, REN, STAR, NR0B1
36estradiol44 24 1111.1STAR, REN, POMC
37alanine449.1NNT, MC2R, POMC, STAR
38pge2449.1POMC, REN, STAR
39androstenedione44 2410.0MC2R, POMC, REN, STAR
40forskolin44 50 1111.0MC2R, POMC, REN, STAR
41progesterone44 28 61 24 1112.9NR0B1, STAR, POMC
42steroid448.7NR0B1, STAR, REN, POMC, MC2R
43dexamethasone44 50 28 1111.7MC2R, POMC, REN, STAR, NR0B1
44acth448.4NR0B1, STAR, REN, POMC, MC2R, MRAP

GO Terms for genes affiliated with Familial Glucocorticoid Deficiency

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Biological processes related to Familial Glucocorticoid Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein localization to cell surfaceGO:0343949.8MRAP, MRAP2
2neuropeptide signaling pathwayGO:0072189.6POMC, MC2R
3steroid biosynthetic processGO:0066949.6NR0B1, STAR
4positive regulation of cAMP biosynthetic processGO:0308199.6MC2R, MRAP2, MRAP
5male gonad developmentGO:0085849.2NR0B1, STAR, REN
6regulation of blood pressureGO:0082179.0REN, POMC

Molecular functions related to Familial Glucocorticoid Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1type 5 melanocortin receptor bindingGO:0317839.8MRAP2, MRAP
2corticotropin hormone receptor bindingGO:0317809.5MRAP2, MRAP
3type 1 melanocortin receptor bindingGO:0709969.3POMC, MRAP2, MRAP
4type 4 melanocortin receptor bindingGO:0317829.3MRAP, MRAP2, POMC
5type 3 melanocortin receptor bindingGO:0317819.2MRAP, MRAP2, POMC

Products for genes affiliated with Familial Glucocorticoid Deficiency

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Sources for Familial Glucocorticoid Deficiency

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet