MCID: FML063
MIFTS: 42

Familial Glucocorticoid Deficiency malady

Genetic diseases, Rare diseases categories

Summaries for Familial Glucocorticoid Deficiency

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66Wikipedia, 34MalaCards
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Wikipedia:66 Familial glucocorticoid deficiency (FGD or GCCD) is an adrenocortical failure characterized by low... more...

MalaCards: 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 pg 106 and [d-trp8]-gamma-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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44NIH Rare Diseases, 23GTR, 46Novoseek, 63UMLS
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Classifications:

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


Aliases & Descriptions:

familial glucocorticoid deficiency 44
acth resistance 44 23 46
glucocorticoid deficiency 1 63


Related Diseases for Familial Glucocorticoid Deficiency

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18GeneCards, 19GeneDecks
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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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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Familial Glucocorticoid Deficiency

Search CenterWatch for Familial Glucocorticoid Deficiency

Genetic Tests for Familial Glucocorticoid Deficiency

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23GTR
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Genetic tests related to Familial Glucocorticoid Deficiency:

id Genetic test Affiliating Genes
1 Acth Resistance23

Anatomical Context for Familial Glucocorticoid Deficiency

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34MalaCards
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MalaCards organs/tissues related to Familial Glucocorticoid Deficiency:

34
Adrenal gland, Pituitary

Animal Models for Familial Glucocorticoid Deficiency or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Familial Glucocorticoid Deficiency:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053798.4NNT, MC2R, POMC, STAR, NR0B1
2MP:00053767.1NNT, MRAP2, MC2R, POMC, REN, STAR

Publications for Familial Glucocorticoid Deficiency

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53PubMed
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Articles related to Familial Glucocorticoid Deficiency:

(show top 50)    (show all 57)
idTitleAuthorsYear
1
Neonatal hyperpigmentation: diagnosis of familial glucocorticoid deficiency with a novel mutation in the melanocortin-2 receptor gene. (24224542)
2014
2
Familial glucocorticoid deficiency: a diagnostic challenge during acute illness. (23708259)
2013
3
Familial glucocorticoid deficiency: New genes and mechanisms. (23279877)
2013
4
An atypical case of familial glucocorticoid deficiency without pigmentation caused by coexistent homozygous mutations in MC2R (T152K) and MC1R (R160W). (22337906)
2012
5
Mutations in NNT encoding nicotinamide nucleotide transhydrogenase cause familial glucocorticoid deficiency. (22634753)
2012
6
Familial glucocorticoid deficiency presenting with generalized hyperpigmentation in adolescence. Report of three siblings. (23565437)
2012
7
A case report: Familial glucocorticoid deficiency associated with familial focal segmental glomerulosclerosis. (23232022)
2012
8
Neonatal presentation of familial glucocorticoid deficiency resulting from a novel splice mutation in the melanocortin 2 receptor accessory protein. (21951701)
2011
9
A novel mutation in the MC2R gene causing familial glucocorticoid deficiency type 1. (21701219)
2011
10
Short stature in a patient with familial glucocorticoid deficiency. (21932602)
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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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Familial Glucocorticoid Deficiency:

1
id Gene Name Type Significance SNP ID Assembly Location
1MC2RNM_000529.2(MC2R): c.376G> T (p.Ala126Ser)single nucleotide variantPathogenicrs267607231GRCh37Chr 18, 13885142: 13885142
2MC2RNM_000529.2(MC2R): c.221G> T (p.Ser74Ile)single nucleotide variantPathogenicrs104894658GRCh37Chr 18, 13885297: 13885297
3MC2RNM_000529.2(MC2R): c.601C> T (p.Arg201Ter)single nucleotide variantPathogenicrs104894659GRCh37Chr 18, 13884917: 13884917
4MC2RNM_000529.2(MC2R): c.360C> G (p.Ser120Arg)single nucleotide variantPathogenicrs104894656GRCh37Chr 18, 13885158: 13885158
5MC2RNM_000529.2(MC2R): c.382C> T (p.Arg128Cys)single nucleotide variantPathogenicrs104894657GRCh37Chr 18, 13885136: 13885136
6MC2RNM_000529.2(MC2R): c.319G> A (p.Asp107Asn)single nucleotide variantPathogenicrs104894661GRCh37Chr 18, 13885199: 13885199
7MC2RNM_000529.2(MC2R): c.752G> T (p.Cys251Phe)single nucleotide variantPathogenicrs104894662GRCh37Chr 18, 13884766: 13884766
8MC2RNM_000529.2(MC2R): c.409C> T (p.Arg137Trp)single nucleotide variantPathogenicrs104894660GRCh37Chr 18, 13885109: 13885109
9MC2RNM_000529.2(MC2R): c.761A> G (p.Tyr254Cys)single nucleotide variantPathogenicrs28940892GRCh37Chr 18, 13884757: 13884757

Expression for genes affiliated with Familial Glucocorticoid Deficiency

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2BioGPS, 16Gene Expression Omnibus DataSets
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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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51PathCards, 56Reactome, 39NCBI BioSystems Database, 13EMD Millipore
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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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62Tocris Bioscience, 30IUPHAR, 46Novoseek, 12DrugBank, 25HMDB, 52PharmGKB, 3BitterDB
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Compounds related to Familial Glucocorticoid Deficiency according to GeneCards/GeneDecks:

(show all 44)
idCompoundScoreTop Affiliating Genes
1pg 1066210.0POMC, MC2R
2[d-trp8]-gamma-msh6210.0MC2R, POMC
3alpha-msh62 3011.0POMC, MC2R
4hs 0146210.0POMC, MC2R
5shu 911962 4611.0MC2R, POMC
6acth 1-244610.0MC2R, POMC
7aminoglutethimide46 1211.0POMC, MC2R
8metyrapone46 62 1212.0POMC, MC2R
9dehydroepiandrosterone sulfate469.9MC2R, POMC
1018-hydroxycorticosterone46 2510.8REN, POMC
11digoxin46 62 52 25 1213.7STAR, REN
12fludrocortisone46 30 1211.7POMC, REN
13doca469.7REN, POMC
1411 deoxycortisol469.7POMC, REN
15ang ii469.7REN, STAR
1617-hydroxyprogesterone46 2510.7POMC, REN
173beta-hydroxysteroid469.7STAR, POMC, MC2R
18dhea469.6STAR, POMC, MC2R
19spironolactone46 62 30 52 1213.6REN, POMC
20desmopressin46 62 30 1212.6POMC, REN
21progestin469.6POMC, STAR
22furosemide46 62 30 52 25 1214.6REN, POMC
23ribonucleic acid469.5STAR, MC2R, POMC
24gnrh469.5STAR, NR0B1, POMC
25clonidine46 52 30 1212.5REN, POMC
2611beta-hydroxysteroid469.4REN, POMC, MC2R
27cyclic amp46 2510.4NR0B1, STAR, MC2R
28hydrocortisone46 3 62 1212.4REN, MC2R, POMC
29potassium46 25 1211.4MC2R, STAR, REN
30adenylate469.3STAR, POMC, MC2R
31catecholamine469.3REN, POMC
32corticosterone46 62 2511.3STAR, REN, POMC
33testosterone46 62 25 1212.2NR0B1, STAR, POMC, MC2R
34haloperidol46 52 30 3 1213.2REN, POMC
35cholesterol46 30 25 1212.1NR0B1, STAR, MC2R, REN
36estradiol46 25 1211.1STAR, POMC, REN
37alanine469.1NNT, STAR, POMC, MC2R
38pge2469.1STAR, POMC, REN
39androstenedione46 2510.0MC2R, REN, STAR, POMC
40forskolin46 52 1211.0STAR, POMC, MC2R, REN
41progesterone46 30 62 25 1212.9POMC, STAR, NR0B1
42steroid468.7MC2R, NR0B1, STAR, REN, POMC
43dexamethasone46 52 30 1211.7POMC, NR0B1, MC2R, STAR, REN
44acth468.4MC2R, NR0B1, STAR, REN, POMC, MRAP

GO Terms for genes affiliated with Familial Glucocorticoid Deficiency

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17Gene Ontology
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Biological processes related to Familial Glucocorticoid Deficiency according to GeneCards/GeneDecks:

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

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

idNameGO IDScoreTop Affiliating Genes
1corticotropin hormone receptor bindingGO:0317809.8MRAP, MRAP2
2type 5 melanocortin receptor bindingGO:0317839.5MRAP2, MRAP
3type 1 melanocortin receptor bindingGO:0709969.3MRAP, MRAP2, POMC
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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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet