MCID: FML063
MIFTS: 36

Familial Glucocorticoid Deficiency malady

Categories: Rare diseases, Endocrine diseases, Genetic diseases

Aliases & Classifications for Familial Glucocorticoid Deficiency

Aliases & Descriptions for Familial Glucocorticoid Deficiency:

Name: Familial Glucocorticoid Deficiency 50 25 56
Glucocorticoid Deficiency 25 69
Acth Resistance 50 25
Hereditary Unresponsiveness to Adrenocorticotropic Hormone 25
Isolated Glucocorticoid Deficiency 25
Adrenal Unresponsiveness to Acth 25
Glucocorticoid Deficiency 1 69

Characteristics:

Orphanet epidemiological data:

56
familial glucocorticoid deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

Classifications:

Orphanet: 56  
Rare endocrine diseases


External Ids:

Orphanet 56 ORPHA361
ICD10 via Orphanet 34 E27.1

Summaries for Familial Glucocorticoid Deficiency

Genetics Home Reference : 25 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 glucocorticoid deficiency, is related to glucocorticoid deficiency, due to acth unresponsiveness and glucocorticoid deficiency 4, and has symptoms including seizures An important gene associated with Familial Glucocorticoid Deficiency is MC2R (Melanocortin 2 Receptor). The drugs Dexamethasone and Cyclosporine have been mentioned in the context of this disorder. Affiliated tissues include kidney, brain and adrenal gland.

Related Diseases for Familial Glucocorticoid Deficiency

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

(show all 49)
id Related Disease Score Top Affiliating Genes
1 glucocorticoid deficiency, due to acth unresponsiveness 11.6
2 glucocorticoid deficiency 4 11.6
3 achalasia-addisonianism-alacrimia syndrome 11.5
4 glucocorticoid deficiency 2 11.1
5 ataxia, spastic, 5, autosomal recessive 10.3 MC2R POMC
6 ameloblastoma 10.2 MC2R POMC
7 distal monosomy 14q 10.2 POMC REN
8 hypogonadism mitral valve prolapse mental retardation 10.2 POMC REN
9 glossopharyngeal nerve neoplasm 10.2 POMC REN
10 epithelial predominant pulmonary blastoma 10.2 POMC STAR
11 endometrial mixed adenocarcinoma 10.2 POMC REN
12 jackson-weiss syndrome 10.2 POMC STAR
13 hemorrhoid 10.2 MRAP REN
14 hypoaldosteronism, congenital, due to cmo i deficiency 10.2 POMC REN
15 jervell and lange-nielsen syndrome 2 10.2 GCCD2 MRAP
16 cataract 21, multiple types 10.2 POMC REN
17 merkel cell carcinoma 10.2 POMC REN
18 esophagus squamous cell papilloma 10.1 POMC REN
19 diabetes insipidus, nephrogenic 10.1 MC2R NNT POMC
20 benign peritoneal mesothelioma 10.1 MC2R NNT POMC
21 astroblastoma 10.1 POMC REN
22 second-degree atrioventricular block 10.1 MC2R POMC STAR
23 panuveitis 10.1 POMC REN
24 x-linked sideroblastic anemia with ataxia 10.1 NNT POMC STAR
25 childhood optic tract astrocytoma 10.1 MC2R POMC REN
26 centrotemporal epilepsy 10.1 NNT NR0B1
27 microphthalmia, syndromic 9 10.1 NNT POMC STAR
28 immune system organ benign neoplasm 10.1 POMC REN
29 adrenal cortical adenocarcinoma 10.1 NNT POMC
30 duchenne muscular dystrophy 10.1 NR0B1 STAR
31 clear cell acanthoma 10.1 POMC REN STAR
32 indian tick typhus 10.1 POMC REN
33 clear cell adenocarcinoma 10.0 POMC REN
34 malignant otitis externa 10.0 NR0B1 POMC REN
35 hypermobility syndrome 10.0 MC2R POMC REN STAR
36 cytomegalovirus retinitis 10.0 NR0B1 REN STAR
37 aorta angiosarcoma 10.0 POMC REN
38 loeffler endocarditis 9.8 NR0B1 POMC REN STAR
39 achalasia 9.7
40 hypophosphatemic rickets 9.6
41 focal segmental glomerulosclerosis 9.6
42 congenital adrenal hyperplasia 9.6
43 rickets 9.6
44 dementia 9.6
45 addison's disease 9.6
46 pituitary adenoma 9.6
47 adenoma 9.6
48 neuropathy 9.6
49 familial multiple trichodiscomas 8.6 GCCD2 GCCD3 MC2R MRAP MRAP2 NNT

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



Diseases related to Familial Glucocorticoid Deficiency

Symptoms & Phenotypes for Familial Glucocorticoid Deficiency

UMLS symptoms related to Familial Glucocorticoid Deficiency:


seizures

Drugs & Therapeutics for Familial Glucocorticoid Deficiency

Drugs for Familial Glucocorticoid Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 87)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dexamethasone Approved, Investigational, Vet_approved Phase 3 50-02-2 5743
2
Cyclosporine Approved, Investigational, Vet_approved Phase 2, Phase 3 79217-60-0, 59865-13-3 5284373 6435893
3
Melphalan Approved Phase 3 148-82-3 4053 460612
4
Mycophenolic acid Approved Phase 2, Phase 3 24280-93-1 446541
5
Mycophenolate mofetil Approved, Investigational Phase 2, Phase 3 128794-94-5 5281078
6
Bortezomib Approved, Investigational Phase 3 179324-69-7 387447 93860
7
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
8
Miconazole Approved, Investigational, Vet_approved Phase 2, Phase 3 22916-47-8 4189
9
Mechlorethamine Approved Phase 3 51-75-2 4033
10
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
11
Vinblastine Approved Phase 2, Phase 3 865-21-4 13342 241903
12
Vincristine Approved, Investigational Phase 2, Phase 3 2068-78-2, 57-22-7 5978
13
Cytarabine Approved, Investigational Phase 2, Phase 3 147-94-4 6253
14
Methotrexate Approved Phase 2, Phase 3 1959-05-2, 59-05-2 126941
15
Indomethacin Approved, Investigational Phase 2, Phase 3 53-86-1 3715
16
Cladribine Approved, Investigational Phase 2, Phase 3 4291-63-8 20279
17
Prednisone Approved, Vet_approved Phase 2, Phase 3 53-03-2 5865
18
leucovorin Approved, Nutraceutical Phase 2, Phase 3 58-05-9 54575, 6560146 143
19
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2, Phase 3 59-30-3 6037
20 Prednisolone acetate Phase 2, Phase 3
21 Dexamethasone acetate Phase 3 1177-87-3
22 Alkylating Agents Phase 3
23 glucocorticoids Phase 2, Phase 3
24
protease inhibitors Phase 3
25 Gastrointestinal Agents Phase 2, Phase 3
26 Neuroprotective Agents Phase 2, Phase 3
27 HIV Protease Inhibitors Phase 3
28 Dermatologic Agents Phase 2, Phase 3
29 Hormone Antagonists Phase 2, Phase 3
30 Dexamethasone 21-phosphate Phase 3
31 Hormones Phase 2, Phase 3
32 Peripheral Nervous System Agents Phase 2, Phase 3
33 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2, Phase 3
34 Anti-Bacterial Agents Phase 2, Phase 3
35 Prednisolone hemisuccinate Phase 2, Phase 3
36 Prednisolone phosphate Phase 2, Phase 3
37 Anti-Infective Agents Phase 2, Phase 3
38 Immunosuppressive Agents Phase 2, Phase 3
39 Protective Agents Phase 2, Phase 3
40 Antiemetics Phase 2, Phase 3
41 Anti-Inflammatory Agents Phase 2, Phase 3
42 Antifungal Agents Phase 2, Phase 3
43 Antibiotics, Antitubercular Phase 2, Phase 3
44 Methylprednisolone acetate Phase 2, Phase 3
45 Methylprednisolone Hemisuccinate Phase 2, Phase 3
46 Antirheumatic Agents Phase 2, Phase 3
47 Antineoplastic Agents, Alkylating Phase 3
48 BB 1101 Phase 3
49 Autonomic Agents Phase 2, Phase 3
50 Antineoplastic Agents, Hormonal Phase 2, Phase 3

Interventional clinical trials:


id Name Status NCT ID Phase
1 Efficacy and Safety of Human Lipoprotein Lipase (LPL)[S447X] Expressed by an Adeno-Associated Viral Vector in LPL-deficient Subjects Completed NCT00891306 Phase 2, Phase 3
2 Melphalan and Dexamethasone With or Without Bortezomib in Treating Patients With Previously Untreated Systemic Light-Chain Amyloidosis Completed NCT01078454 Phase 3
3 LCH-IV, International Collaborative Treatment Protocol for Children and Adolescents With Langerhans Cell Histiocytosis Recruiting NCT02205762 Phase 2, Phase 3
4 Preventing Frequent Sinus Infections in HIV-Infected Patients Withdrawn NCT00000752 Phase 2
5 Ilaris (Canakinumab) in Patient With Periodic Fever, Aphthous Stomatitis, Pharyngitis and Cervical Adenitis (PFAPA) Not yet recruiting NCT02775994 Phase 1
6 Study of the Diagnostic Value of Stable Calcium Isotope Profiling in Bone and Calcium Disorders Recruiting NCT02252679
7 Allogeneic Bone Marrow Transplantation in Patients With Primary Immunodeficiencies Terminated NCT00006054

Search NIH Clinical Center for Familial Glucocorticoid Deficiency

Genetic Tests for Familial Glucocorticoid Deficiency

Anatomical Context for Familial Glucocorticoid Deficiency

MalaCards organs/tissues related to Familial Glucocorticoid Deficiency:

39
Kidney, Brain, Adrenal Gland, Pituitary

Publications for Familial Glucocorticoid Deficiency

Articles related to Familial Glucocorticoid Deficiency:

(show top 50) (show all 62)
id Title Authors Year
1
Neonatal presentation of familial glucocorticoid deficiency with a MRAP mutation: A case report. ( 27660747 )
2016
2
NNT pseudoexon activation as a novel mechanism for disease in two siblings with familial glucocorticoid deficiency. ( 25459914 )
2015
3
A novel homozygous insertion and review of published mutations in the NNT gene causing familial glucocorticoid deficiency (FGD). ( 26548497 )
2015
4
Impact of a novel homozygous mutation in nicotinamide nucleotide transhydrogenase on mitochondrial DNA integrity in a case of familial glucocorticoid deficiency. ( 26309815 )
2015
5
Thioredoxin Reductase 2 (TXNRD2) mutation associated with familial glucocorticoid deficiency (FGD). ( 24601690 )
2014
6
Neonatal hyperpigmentation: diagnosis of familial glucocorticoid deficiency with a novel mutation in the melanocortin-2 receptor gene. ( 24224542 )
2014
7
Familial glucocorticoid deficiency: New genes and mechanisms. ( 23279877 )
2013
8
A novel homozygous mutation of the nicotinamide nucleotide transhydrogenase gene in a Japanese patient with familial glucocorticoid deficiency. ( 23474776 )
2013
9
Familial glucocorticoid deficiency: a diagnostic challenge during acute illness. ( 23708259 )
2013
10
Mutations in NNT encoding nicotinamide nucleotide transhydrogenase cause familial glucocorticoid deficiency. ( 22634753 )
2012
11
A case report: Familial glucocorticoid deficiency associated with familial focal segmental glomerulosclerosis. ( 23232022 )
2012
12
Familial glucocorticoid deficiency presenting with generalized hyperpigmentation in adolescence. Report of three siblings. ( 23565437 )
2012
13
Familial glucocorticoid deficiency presenting with generalized hyperpigmentation in an Egyptian child: a case report. ( 22507176 )
2012
14
An atypical case of familial glucocorticoid deficiency without pigmentation caused by coexistent homozygous mutations in MC2R (T152K) and MC1R (R160W). ( 22337906 )
2012
15
Neonatal presentation of familial glucocorticoid deficiency resulting from a novel splice mutation in the melanocortin 2 receptor accessory protein. ( 21951701 )
2011
16
Short stature in a patient with familial glucocorticoid deficiency. ( 21932602 )
2011
17
Familial glucocorticoid deficiency due to compound heterozygosity of two novel MC2R mutations. ( 21823545 )
2011
18
A novel mutation in the MC2R gene causing familial glucocorticoid deficiency type 1. ( 21701219 )
2011
19
Familial glucocorticoid deficiency in five Arab kindreds with homozygous point mutations of the ACTH receptor (MC2R): genotype and phenotype correlations. ( 21778684 )
2011
20
Phenotypic characteristics of familial glucocorticoid deficiency (FGD) type 1 and 2. ( 19558534 )
2010
21
Missense mutations in the melanocortin 2 receptor accessory protein that lead to late onset familial glucocorticoid deficiency type 2. ( 20427498 )
2010
22
Familial glucocorticoid deficiency type 2: a case report. ( 21274326 )
2010
23
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
24
The genetics of familial glucocorticoid deficiency. ( 19500760 )
2009
25
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
26
Familial glucocorticoid deficiency with a point mutation in the ACTH receptor: a case report. ( 19795005 )
2009
27
A corticotroph pituitary adenoma as the initial presentation of familial glucocorticoid deficiency. ( 19423561 )
2009
28
Nonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiency. ( 19773404 )
2009
29
A novel adrenocorticotropin receptor mutation alters its structure and function, causing familial glucocorticoid deficiency. ( 18492762 )
2008
30
The majority of adrenocorticotropin receptor (melanocortin 2 receptor) mutations found in familial glucocorticoid deficiency type 1 lead to defective trafficking of the receptor to the cell surface. ( 18840636 )
2008
31
A novel variant of familial glucocorticoid deficiency prevalent among the Irish Traveler population. ( 18430777 )
2008
32
Familial glucocorticoid deficiency: advances in the molecular understanding of ACTH action. ( 18059087 )
2008
33
Familial glucocorticoid deficiency type 1 due to a novel compound heterozygous MC2R mutation. ( 18504396 )
2008
34
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
35
Novel compound heterozygous mutation of the MC2R gene in a patient with familial glucocorticoid deficiency. ( 17128565 )
2006
36
Unusual presentation of familial glucocorticoid deficiency with a novel MRAP mutation. ( 16868047 )
2006
37
Possible relationship between elevated plasma ACTH and tall stature in familial glucocorticoid deficiency. ( 15673970 )
2005
38
Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2. ( 15654338 )
2005
39
Mutations in a novel gene, encoding a single transmembrane domain protein are associated with familial glucocorticoid deficiency type 2. ( 15666841 )
2004
40
A novel presentation of familial glucocorticoid deficiency (FGD) and current literature review. ( 14960026 )
2004
41
Familial glucocorticoid deficiency type 2 in two neonates. ( 12556930 )
2003
42
Familial glucocorticoid deficiency syndromes. ( 12212552 )
2002
43
Functional relationships between three novel homozygous mutations in the ACTH receptor gene and familial glucocorticoid deficiency. ( 12110946 )
2002
44
Linkage of one gene for familial glucocorticoid deficiency type 2 (FGD2) to chromosome 8q and further evidence of heterogeneity. ( 12384787 )
2002
45
Tall stature in familial glucocorticoid deficiency. ( 11012566 )
2000
46
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
47
[ACTH receptor, ACTH receptor anomaly, and familial glucocorticoid deficiency]. ( 9702062 )
1998
48
ACTH receptor mutation in a girl with familial glucocorticoid deficiency. ( 9550364 )
1998
49
Familial glucocorticoid deficiency: one syndrome, but more than one gene. ( 9231879 )
1997
50
Diminished adrenal androgen secretion in familial glucocorticoid deficiency implicates a significant role for ACTH in the induction of adrenarche. ( 9196605 )
1997

Variations for Familial Glucocorticoid Deficiency

ClinVar genetic disease variations for Familial Glucocorticoid Deficiency:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 MC2R NM_000529.2(MC2R): c.221G> T (p.Ser74Ile) single nucleotide variant Pathogenic rs104894658 GRCh37 Chromosome 18, 13885297: 13885297
2 MC2R NM_000529.2(MC2R): c.601C> T (p.Arg201Ter) single nucleotide variant Pathogenic rs104894659 GRCh37 Chromosome 18, 13884917: 13884917
3 MC2R NM_000529.2(MC2R): c.360C> G (p.Ser120Arg) single nucleotide variant Pathogenic rs104894656 GRCh37 Chromosome 18, 13885158: 13885158
4 MC2R NM_000529.2(MC2R): c.382C> T (p.Arg128Cys) single nucleotide variant Pathogenic rs104894657 GRCh37 Chromosome 18, 13885136: 13885136
5 MC2R NM_000529.2(MC2R): c.319G> A (p.Asp107Asn) single nucleotide variant Pathogenic rs104894661 GRCh37 Chromosome 18, 13885199: 13885199
6 MC2R MC2R, 1-BP INS, 1347A insertion Pathogenic
7 MC2R NM_000529.2(MC2R): c.752G> T (p.Cys251Phe) single nucleotide variant Pathogenic rs104894662 GRCh37 Chromosome 18, 13884766: 13884766
8 MC2R NM_000529.2(MC2R): c.409C> T (p.Arg137Trp) single nucleotide variant Pathogenic rs104894660 GRCh37 Chromosome 18, 13885109: 13885109
9 MC2R NM_000529.2(MC2R): c.761A> G (p.Tyr254Cys) single nucleotide variant Pathogenic rs28940892 GRCh37 Chromosome 18, 13884757: 13884757
10 MC2R NM_000529.2(MC2R): c.376G> T (p.Ala126Ser) single nucleotide variant Pathogenic rs267607231 GRCh37 Chromosome 18, 13885142: 13885142

Expression for Familial Glucocorticoid Deficiency

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

Pathways for Familial Glucocorticoid Deficiency

GO Terms for Familial Glucocorticoid Deficiency

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

id Name GO ID Score Top Affiliating Genes
1 steroid biosynthetic process GO:0006694 9.32 NR0B1 STAR
2 response to immobilization stress GO:0035902 9.26 NR0B1 REN
3 protein localization to cell surface GO:0034394 9.16 MRAP MRAP2
4 male gonad development GO:0008584 9.13 NR0B1 REN STAR
5 positive regulation of cAMP biosynthetic process GO:0030819 8.8 MC2R MRAP MRAP2

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

id Name GO ID Score Top Affiliating Genes
1 type 4 melanocortin receptor binding GO:0031782 9.33 MRAP MRAP2 POMC
2 corticotropin hormone receptor binding GO:0031780 9.32 MRAP MRAP2
3 type 5 melanocortin receptor binding GO:0031783 9.26 MRAP MRAP2
4 type 3 melanocortin receptor binding GO:0031781 9.13 MRAP MRAP2 POMC
5 type 1 melanocortin receptor binding GO:0070996 8.8 MRAP MRAP2 POMC

Sources for Familial Glucocorticoid Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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