MCID: FML063
MIFTS: 42

Familial Glucocorticoid Deficiency malady

Genetic diseases, Rare diseases, Endocrine diseases categories

Aliases & Classifications for Familial Glucocorticoid Deficiency

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Sources:
61UMLS, 42NIH Rare Diseases, 21Genetics Home Reference, 48Orphanet, 44Novoseek, 22GTR, 26ICD10 via Orphanet
See all sources

Aliases & Descriptions for Familial Glucocorticoid Deficiency:

Name: Familial Glucocorticoid Deficiency 42 21 48
Acth Resistance 42 21 44 48 22
Glucocorticoid Deficiency 21 61
Hereditary Unresponsiveness to Adrenocorticotropic Hormone 21
 
Isolated Glucocorticoid Deficiency 21
Adrenal Unresponsiveness to Acth 21
Glucocorticoid Deficiency 1 61


Classifications:



Characteristics (Orphanet epidemiological data):

48
acth resistance:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood


External Ids:

Orphanet48 361
ICD10 via Orphanet26 E27.1

Summaries for Familial Glucocorticoid Deficiency

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Genetics Home Reference:21 Familial glucocorticoid deficiency is a condition that occurs when the adrenal glands, which are hormone-producing glands located on top of each kidney, do not produce certain hormones called glucocorticoids. These hormones, which include cortisol and corticosterone, aid in immune system function, play a role in maintaining normal blood sugar levels, help trigger nerve cell signaling in the brain, and serve many other purposes in the body.

MalaCards based summary: Familial Glucocorticoid Deficiency, also known as acth resistance, is related to glucocorticoid deficiency 2 and achalasia. 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 alpha-msh and pg 106 have been mentioned in the context of this disorder. Affiliated tissues include brain, kidney and adrenal gland, and related mouse phenotypes are endocrine/exocrine gland and homeostasis/metabolism.

Related Diseases for Familial Glucocorticoid Deficiency

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

(show top 50)    (show all 52)
idRelated DiseaseScoreTop Affiliating Genes
1glucocorticoid deficiency 231.3MRAP
2achalasia30.7MC2R, POMC
3achalasia-addisonianism-alacrimia syndrome30.5MC2R, POMC
4pituitary adenoma30.2POMC, NR0B1, MC2R
5hypothyroidism29.9TXNRD2, POMC
6addison's disease29.5STAR, NR0B1, MC2R, POMC, REN
7congenital adrenal hyperplasia29.5NR0B1, STAR, REN, POMC, MC2R
8adenoma29.4TXNRD2, NR0B1, MC2R, POMC, REN
9x-linked adrenal hypoplasia congenita10.5NR0B1
10lipoid adrenal hyperplasia10.4STAR
11natural killer cell and glucocorticoid deficiency with dna repair defect10.4
12ovarian disease10.4STAR
13acute adrenal insufficiency10.3POMC
14glucocorticoid deficiency 310.3
15adrenal carcinoma10.3POMC
16adrenocortical carcinoma10.3POMC
17adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism10.3NR0B1, STAR
18glucocorticoid deficiency 410.3
19glucocorticoid deficiency, due to acth unresponsiveness10.3
20anemia, sideroblastic, pyridoxine-refractory, autosomal recessive10.2NR0B1, STAR
21diabetes insipidus10.1
22hypophosphatemic rickets10.1
23focal segmental glomerulosclerosis10.1
24rickets10.1
25dementia10.1
26glomerulosclerosis10.1
27neuropathy10.1
28precocious puberty10.1NR0B1, POMC
29west syndrome10.0
30hypogonadism10.0POMC, NR0B1
31leydig cell tumor10.0POMC, NR0B1, STAR
32cushing's syndrome10.0POMC, REN
33rheumatoid arthritis10.0
34glucocorticoid resistance10.0
35arthritis10.0
36brain injury10.0
37traumatic brain injury10.0
38esophagitis10.0
39thyroiditis10.0
40palatopharyngeal incompetence10.0
41skeletal dysplasias10.0
42aldosteronism, glucocorticoid-remediable10.0REN, POMC
43adrenoleukodystrophy10.0REN, NR0B1
44polycystic ovary syndrome10.0STAR, POMC
45hypoaldosteronism10.0POMC, REN
46conn's syndrome9.9REN, POMC
47hyperaldosteronism9.9POMC, REN
48hypokalemia9.9REN, POMC
49adrenal adenoma9.9MC2R, POMC, REN
50pituitary tumors9.8POMC, TXNRD2

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:

31
Brain, Kidney, Adrenal gland, Pituitary

Animal Models for Familial Glucocorticoid Deficiency or affiliated genes

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MGI Mouse Phenotypes related to Familial Glucocorticoid Deficiency:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053798.6NR0B1, STAR, POMC, MC2R, NNT
2MP:00053766.8NR0B1, NNT, MRAP2, TXNRD2, MC2R, POMC

Publications for Familial Glucocorticoid Deficiency

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Articles related to Familial Glucocorticoid Deficiency:

(show top 50)    (show all 59)
idTitleAuthorsYear
1
NNT pseudoexon activation as a novel mechanism for disease in two siblings with familial glucocorticoid deficiency. (25459914)
2015
2
Thioredoxin Reductase 2 (TXNRD2) mutation associated with familial glucocorticoid deficiency (FGD). (24601690)
2014
3
Neonatal hyperpigmentation: diagnosis of familial glucocorticoid deficiency with a novel mutation in the melanocortin-2 receptor gene. (24224542)
2014
4
Familial glucocorticoid deficiency: a diagnostic challenge during acute illness. (23708259)
2013
5
Familial glucocorticoid deficiency: New genes and mechanisms. (23279877)
2013
6
An atypical case of familial glucocorticoid deficiency without pigmentation caused by coexistent homozygous mutations in MC2R (T152K) and MC1R (R160W). (22337906)
2012
7
Mutations in NNT encoding nicotinamide nucleotide transhydrogenase cause familial glucocorticoid deficiency. (22634753)
2012
8
Familial glucocorticoid deficiency presenting with generalized hyperpigmentation in adolescence. Report of three siblings. (23565437)
2012
9
A case report: Familial glucocorticoid deficiency associated with familial focal segmental glomerulosclerosis. (23232022)
2012
10
Neonatal presentation of familial glucocorticoid deficiency resulting from a novel splice mutation in the melanocortin 2 receptor accessory protein. (21951701)
2011
11
A novel mutation in the MC2R gene causing familial glucocorticoid deficiency type 1. (21701219)
2011
12
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
13
Missense mutations in the melanocortin 2 receptor accessory protein that lead to late onset familial glucocorticoid deficiency type 2. (20427498)
2010
14
Familial glucocorticoid deficiency type 2: a case report. (21274326)
2010
15
Phenotypic characteristics of familial glucocorticoid deficiency (FGD) type 1 and 2. (19558534)
2010
16
Familial glucocorticoid deficiency with a point mutation in the ACTH receptor: a case report. (19795005)
2009
17
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
18
Nonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiency. (19773404)
2009
19
A corticotroph pituitary adenoma as the initial presentation of familial glucocorticoid deficiency. (19423561)
2009
20
The genetics of familial glucocorticoid deficiency. (19500760)
2009
21
A novel variant of familial glucocorticoid deficiency prevalent among the Irish Traveler population. (18430777)
2008
22
Familial glucocorticoid deficiency: advances in the molecular understanding of ACTH action. (18059087)
2008
23
A novel adrenocorticotropin receptor mutation alters its structure and function, causing familial glucocorticoid deficiency. (18492762)
2008
24
Familial glucocorticoid deficiency type 1 due to a novel compound heterozygous MC2R mutation. (18504396)
2008
25
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
26
Novel compound heterozygous mutation of the MC2R gene in a patient with familial glucocorticoid deficiency. (17128565)
2006
27
Unusual presentation of familial glucocorticoid deficiency with a novel MRAP mutation. (16868047)
2006
28
Possible relationship between elevated plasma ACTH and tall stature in familial glucocorticoid deficiency. (15673970)
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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Clinvar genetic disease variations for Familial Glucocorticoid Deficiency:

5 (show all 24)
id Gene Variation Type Significance SNP ID Assembly Location
1MRAPMRAP, IVS3, G-T, +1single nucleotide variantPathogenic
2MRAPMRAP, IVS3, G-C, +1single nucleotide variantPathogenic
3MRAPMRAP, IVS3, G-A, +1single nucleotide variantPathogenic
4MRAPMRAP, IVS3, G DEL, +1deletionPathogenic
5MRAPMRAP, IVS3, T INS, +3insertionPathogenic
6MRAPNM_206898.1(MRAP): c.3G> A (p.Met1Ile)single nucleotide variantPathogenicrs80358231GRCh37Chr 21, 33671285: 33671285
7MRAPMRAP, 1-BP DEL, 128GdeletionPathogenic
8MC2RNM_000529.2(MC2R): c.376G> T (p.Ala126Ser)single nucleotide variantPathogenicrs267607231GRCh37Chr 18, 13885142: 13885142
9MRAPMRAP, 7-BP DEL, NT17deletionPathogenic
10MC2RNM_000529.2(MC2R): c.221G> T (p.Ser74Ile)single nucleotide variantPathogenicrs104894658GRCh37Chr 18, 13885297: 13885297
11MC2RNM_000529.2(MC2R): c.601C> T (p.Arg201Ter)single nucleotide variantPathogenicrs104894659GRCh37Chr 18, 13884917: 13884917
12MC2RNM_000529.2(MC2R): c.360C> G (p.Ser120Arg)single nucleotide variantPathogenicrs104894656GRCh37Chr 18, 13885158: 13885158
13MC2RNM_000529.2(MC2R): c.382C> T (p.Arg128Cys)single nucleotide variantPathogenicrs104894657GRCh37Chr 18, 13885136: 13885136
14MC2RNM_000529.2(MC2R): c.319G> A (p.Asp107Asn)single nucleotide variantPathogenicrs104894661GRCh37Chr 18, 13885199: 13885199
15MC2RMC2R, 1-BP INS, 1347AinsertionPathogenic
16MC2RNM_000529.2(MC2R): c.752G> T (p.Cys251Phe)single nucleotide variantPathogenicrs104894662GRCh37Chr 18, 13884766: 13884766
17MC2RNM_000529.2(MC2R): c.409C> T (p.Arg137Trp)single nucleotide variantPathogenicrs104894660GRCh37Chr 18, 13885109: 13885109
18MC2RNM_000529.2(MC2R): c.761A> G (p.Tyr254Cys)single nucleotide variantPathogenicrs28940892GRCh37Chr 18, 13884757: 13884757
19NNTNM_012343.3(NNT): c.1598C> T (p.Ala533Val)single nucleotide variantPathogenicrs387907232GRCh37Chr 5, 43649402: 43649402
20NNTNNT, 1-BP DEL, 600GdeletionPathogenic
21NNTNM_012343.3(NNT): c.2930T> C (p.Leu977Pro)single nucleotide variantPathogenicrs387907233GRCh37Chr 5, 43700274: 43700274
22NNTNNT, 4-BP DEL, 1107TCACdeletionPathogenic
23NNTNNT, ASN1009LYSundetermined variantPathogenic
24NNTNM_012343.3(NNT): c.3022G> C (p.Ala1008Pro)single nucleotide variantPathogenicrs387907234GRCh37Chr 5, 43702749: 43702749

Expression for genes affiliated with Familial Glucocorticoid Deficiency

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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 Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.6STAR, POMC
29.6STAR, POMC
3
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 Suite gene sharing:

(show all 43)
idCompoundScoreTop Affiliating Genes
1alpha-msh60 2811.1POMC, MC2R
2pg 1066010.1POMC, MC2R
3hs 0146010.1POMC, MC2R
4[d-trp8]-gamma-msh6010.0MC2R, POMC
5shu 911960 4411.0MC2R, POMC
6acth 1-244410.0POMC, MC2R
7aminoglutethimide44 1111.0MC2R, POMC
8metyrapone44 60 1112.0POMC, MC2R
9dehydroepiandrosterone sulfate449.8MC2R, POMC
10digoxin44 60 50 24 1113.7STAR, REN
1118-hydroxycorticosterone44 2410.7REN, POMC
123beta-hydroxysteroid449.7MC2R, POMC, STAR
13dhea449.7POMC, MC2R, STAR
14fludrocortisone44 28 1111.7POMC, REN
15ang ii449.7STAR, REN
1611 deoxycortisol449.7POMC, REN
17doca449.7POMC, REN
1817-hydroxyprogesterone44 2410.6POMC, REN
19progestin449.6POMC, STAR
20spironolactone44 60 28 50 1113.6POMC, REN
21ribonucleic acid449.6MC2R, STAR, POMC
22desmopressin44 60 28 1112.6POMC, REN
23furosemide44 60 28 50 24 1114.6REN, POMC
24gnrh449.5NR0B1, STAR, POMC
25triiodothyronine449.5TXNRD2, POMC
2611beta-hydroxysteroid449.5POMC, REN, MC2R
27clonidine44 50 28 1112.4POMC, REN
28hydrocortisone44 1 60 1112.4MC2R, POMC, REN
29corticosterone44 60 2411.4STAR, REN, POMC
30thyroxine44 2410.3REN, POMC, TXNRD2
31testosterone44 60 24 1112.2POMC, MC2R, STAR, NR0B1
32potassium44 24 1111.2STAR, TXNRD2, MC2R, REN
33androstenedione44 2410.1MC2R, STAR, REN, POMC
34estradiol44 24 1111.1REN, STAR, POMC
35forskolin44 50 1111.1STAR, REN, POMC, MC2R
36estrogen449.0STAR, TXNRD2, NR0B1, POMC
37alanine449.0NNT, STAR, POMC, TXNRD2, MC2R
38pge2449.0STAR, REN, POMC
39aspartate448.9TXNRD2, STAR, POMC
40cholesterol44 28 24 1111.8MC2R, REN, STAR, TXNRD2, NR0B1
41dexamethasone44 50 28 1111.7MC2R, NR0B1, REN, POMC, STAR
42acth448.4POMC, NR0B1, REN, STAR, MC2R, MRAP
43steroid448.3MC2R, POMC, STAR, NR0B1, REN, TXNRD2

GO Terms for genes affiliated with Familial Glucocorticoid Deficiency

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Biological processes related to Familial Glucocorticoid Deficiency according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1protein localization to cell surfaceGO:00343949.6MRAP, MRAP2
2positive regulation of cAMP biosynthetic processGO:00308199.5MC2R, MRAP2, MRAP
3steroid biosynthetic processGO:00066949.4NR0B1, STAR
4regulation of blood pressureGO:00082179.3REN, POMC
5male gonad developmentGO:00085849.1NR0B1, STAR, REN

Molecular functions related to Familial Glucocorticoid Deficiency according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1NADP bindingGO:00506619.8TXNRD2, NNT
2corticotropin hormone receptor bindingGO:00317809.6MRAP2, MRAP
3type 5 melanocortin receptor bindingGO:00317839.4MRAP2, MRAP
4type 1 melanocortin receptor bindingGO:00709969.3POMC, MRAP2, MRAP
5type 4 melanocortin receptor bindingGO:00317829.3MRAP, MRAP2, POMC
6type 3 melanocortin receptor bindingGO:00317819.2MRAP, MRAP2, POMC

Sources for Familial Glucocorticoid Deficiency

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet