MCID: FML063
MIFTS: 34

Familial Glucocorticoid Deficiency

Categories: Rare diseases, Endocrine diseases, Genetic diseases

Aliases & Classifications for Familial Glucocorticoid Deficiency

MalaCards integrated aliases for Familial Glucocorticoid Deficiency:

Name: Familial Glucocorticoid Deficiency 53 25 59 37
Glucocorticoid Deficiency 25 6 73
Acth Resistance 53 25
Hereditary Unresponsiveness to Adrenocorticotropic Hormone 25
Isolated Glucocorticoid Deficiency 25
Adrenal Unresponsiveness to Acth 25
Glucocorticoid Deficiency 1 73

Characteristics:

Orphanet epidemiological data:

59
familial glucocorticoid deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

Classifications:

Orphanet: 59  
Rare endocrine diseases


External Ids:

Orphanet 59 ORPHA361
ICD10 via Orphanet 34 E27.1
KEGG 37 H00256

Summaries for Familial Glucocorticoid Deficiency

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 361Disease definitionFamilial glucocorticoid deficiency (FGD) is a group of primary adrenal insufficiencies characterized clinically by neonatal hyperpigmentation, hypoglycemia, failure to thrive, and recurrent infections, and biochemically by glucocorticoid deficiency without mineralocorticoid deficiency.EpidemiologyThe prevalence is unknown. In Ireland there is a prevalence of around 1/200,000, but this is likely to be skewed by a high prevalence in the Irish Traveler sub-population.Clinical descriptionFGD usually presents in infancy or early childhood with hyperpigmentation of the skin and gums (present at birth or that develops over time), hypoglycemic seizures and failure to thrive. Recurrent infections are also a common finding (and may be the presenting sign in older children). Weakness, fatigue, weight loss, anorexia, vomiting, flank or abdominal pain, constipation and diarrhea are additional symptoms seen in some patients due to hypocortisolemia. Hypoglycemic crises resulting in convulsions can lead to coma or death if untreated and recurrent hypolglycemia may lead to neurological sequelae (i.e. learning disabilities, intellectual deficit, and sometimes severe, neuronal damage leading to major sensory and motor defects such as quadriplegia). Tall stature has been reported in some patients with FGD, typically those with MC2R gene defects. MRAP defects have been associated with a more severe disease and an earlier age of onset while a milder phenotype is seen in those with defects in the MCM4 gene (Irish Traveler FGD).EtiologyFGD is due, in most cases, to defects in the adrenocorticotropin (ACTH) receptor, or its signaling pathway, resulting in a failure of the cells of zona fasciculata in the adrenal cortex to respond appropriately to adrenocorticotrophic hormone (ACTH), leading to a glucocorticoid deficiency. These defects are most commonly caused by mutations in MC2R (18p11.2), accounting for 25% of cases, and MRAP (21q22.1), accounting for 20% of cases. Other mutations reported in patients with FGD include MCM4 (8q12-q13), probably uniquely in the Irish Traveler population; NNT (5p12), accounting for around 15% of cases; and TXNRD2 (22q11.21). Certain partially inactivating mutations of STAR (8p11.2) or CYP11A1 (15q23-q24) can cause a phenotype that masquerades as FGD.Diagnostic methodsDiagnosis is based on clinical and laboratory findings. Patients have high plasma ACTH and low serum morning cortisol levels that do not respond to exogenous ACTH stimulation. Mineralocorticoid function is normal. Molecular genetic testing revealing a mutation in one of the disease causing genes confirms diagnosis of FGD.Differential diagnosisThe main differential diagnosis of FGD is Addison's disease (usually of autoimmune origin), in which case a mineralocorticoid deficiency is present. Other differential diagnoses include triple A syndrome, congenital adrenal hyperplasia and other acquired causes of primary adrenal insufficiency (see these terms).Antenatal diagnosisPrenatal diagnosis is possible in families with a known disease causing mutation but is rarely performed.Genetic counselingFDG is inherited in an autosomal recessive manner. Genetic counseling is possible.Management and treatmentTreatment consists of a replacement therapy with oral hydrocortisone. A dosage of 10-12 mg/m2/day (usually divided into three doses) normalizes cortisol and reduces, but rarely normalizes, ACTH. Dose modification is necessary during stresses such as surgery or intercurrent illness, and patients should have injectable hydrocortisone available for emergencies and carry a medical alert type bracelet or card. Prompt and adequate treatment of a hypoglycemic crisis is essential. Treatment is life-long.PrognosisThe prognosis is good for patients who are diagnosed and treated early. Only when left untreated is FGD a disease with high morbidity (neurological sequelae) and mortality.Visit the Orphanet disease page for more resources.

MalaCards based summary : Familial Glucocorticoid Deficiency, also known as glucocorticoid deficiency, is related to glucocorticoid deficiency 1 and glucocorticoid deficiency 2. An important gene associated with Familial Glucocorticoid Deficiency is MC2R (Melanocortin 2 Receptor), and among its related pathways/superpathways is Aldosterone synthesis and secretion. Affiliated tissues include testes, adrenal cortex and skin.

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.

Related Diseases for Familial Glucocorticoid Deficiency

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

(show top 50) (show all 53)
# Related Disease Score Top Affiliating Genes
1 glucocorticoid deficiency 1 33.4 MC2R MRAP POMC
2 glucocorticoid deficiency 2 33.3 GCCD2 MRAP
3 lipoid congenital adrenal hyperplasia 29.1 MC2R POMC REN STAR
4 glucocorticoid deficiency 3 11.7
5 glucocorticoid deficiency 4 with or without mineralocorticoid deficiency 11.7
6 adrenocortical unresponsiveness to acth with postreceptor defect 11.0
7 glucocorticoid deficiency 5 10.9
8 sella turcica neoplasm 10.6 MRAP POMC
9 tuberculum sellae meningioma 10.6 MRAP POMC
10 adrenal cortical adenoma 10.5 MC2R POMC
11 acute adrenal insufficiency 10.5 POMC REN
12 hypoaldosteronism 10.5 POMC REN
13 testicular leydig cell tumor 10.5 POMC STAR
14 inappropriate adh syndrome 10.5 POMC REN
15 steroid inherited metabolic disorder 10.5 POMC STAR
16 renal tuberculosis 10.5 MRAP REN
17 pituitary-dependent cushing's disease 10.5 NNT POMC
18 hyperaldosteronism, familial, type i 10.4 POMC REN
19 apparent mineralocorticoid excess 10.4 POMC REN
20 premenstrual tension 10.4 POMC REN
21 pontocerebellar hypoplasia, type 2d 10.4 NNT TXNRD2
22 endocrine organ benign neoplasm 10.4 POMC REN
23 mineral metabolism disease 10.3 POMC REN
24 achalasia-addisonianism-alacrima syndrome 10.3 MC2R NNT POMC
25 adrenal rest tumor 10.3 MC2R NNT POMC
26 organ system benign neoplasm 10.3 POMC REN
27 thyroid gland disease 10.3 POMC TXNRD2
28 adrenal adenoma 10.2 MC2R POMC REN
29 conn's syndrome 10.2 MC2R POMC REN
30 adrenal insufficiency, congenital, with 46,xy sex reversal, partial or complete 10.2 NNT POMC STAR
31 aortic valve disease 1 10.2 POMC REN
32 cell type benign neoplasm 10.1 POMC REN
33 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies 10.0 NNT NR0B1
34 hypokalemia 10.0 POMC REN
35 adrenal hypoplasia, congenital 9.9 NR0B1 STAR
36 achalasia 9.8
37 gonadal disease 9.7 NR0B1 POMC
38 diabetes insipidus 9.7 POMC REN
39 46 xy gonadal dysgenesis 9.7 NR0B1 STAR
40 hypophosphatemic rickets, x-linked recessive 9.6
41 focal segmental glomerulosclerosis 1 9.6
42 focal segmental glomerulosclerosis 9.6
43 rickets 9.6
44 dementia 9.6
45 pituitary adenoma 9.6
46 adenoma 9.6
47 neuropathy 9.6
48 adrenal cortical hypofunction 9.6 NR0B1 POMC REN
49 adrenal cortex disease 9.6 NR0B1 POMC REN
50 adrenal gland disease 9.6 NR0B1 POMC REN

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



Diseases related to Familial Glucocorticoid Deficiency

Symptoms & Phenotypes for Familial Glucocorticoid Deficiency

Drugs & Therapeutics for Familial Glucocorticoid Deficiency

Search Clinical Trials , 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:

41
Testes, Adrenal Cortex, Skin, Adrenal Gland, Cortex, Kidney, Brain

Publications for Familial Glucocorticoid Deficiency

Articles related to Familial Glucocorticoid Deficiency:

(show top 50) (show all 64)
# Title Authors Year
1
Early diagnosis in familial glucocorticoid deficiency. ( 28458768 )
2017
2
A Pilot Study Evaluating Therapeutic Response of Different Dosage of Oral Glucocorticoid in Two Children with Familial Glucocorticoid Deficiency Presenting with Diffuse Mucocutaneous Hyperpigmentation. ( 28400640 )
2017
3
Neonatal presentation of familial glucocorticoid deficiency with a MRAP mutation: A case report. ( 27660747 )
2016
4
A novel homozygous insertion and review of published mutations in the NNT gene causing familial glucocorticoid deficiency (FGD). ( 26548497 )
2015
5
Impact of a novel homozygous mutation in nicotinamide nucleotide transhydrogenase on mitochondrial DNA integrity in a case of familial glucocorticoid deficiency. ( 26309815 )
2015
6
NNT pseudoexon activation as a novel mechanism for disease in two siblings with familial glucocorticoid deficiency. ( 25459914 )
2015
7
Thioredoxin Reductase 2 (TXNRD2) mutation associated with familial glucocorticoid deficiency (FGD). ( 24601690 )
2014
8
Neonatal hyperpigmentation: diagnosis of familial glucocorticoid deficiency with a novel mutation in the melanocortin-2 receptor gene. ( 24224542 )
2014
9
A novel homozygous mutation of the nicotinamide nucleotide transhydrogenase gene in a Japanese patient with familial glucocorticoid deficiency. ( 23474776 )
2013
10
Familial glucocorticoid deficiency: New genes and mechanisms. ( 23279877 )
2013
11
Familial glucocorticoid deficiency: a diagnostic challenge during acute illness. ( 23708259 )
2013
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
A case report: Familial glucocorticoid deficiency associated with familial focal segmental glomerulosclerosis. ( 23232022 )
2012
15
Mutations in NNT encoding nicotinamide nucleotide transhydrogenase cause familial glucocorticoid deficiency. ( 22634753 )
2012
16
An atypical case of familial glucocorticoid deficiency without pigmentation caused by coexistent homozygous mutations in MC2R (T152K) and MC1R (R160W). ( 22337906 )
2012
17
A novel mutation in the MC2R gene causing familial glucocorticoid deficiency type 1. ( 21701219 )
2011
18
Neonatal presentation of familial glucocorticoid deficiency resulting from a novel splice mutation in the melanocortin 2 receptor accessory protein. ( 21951701 )
2011
19
Familial glucocorticoid deficiency due to compound heterozygosity of two novel MC2R mutations. ( 21823545 )
2011
20
Short stature in a patient with familial glucocorticoid deficiency. ( 21932602 )
2011
21
Familial glucocorticoid deficiency in five Arab kindreds with homozygous point mutations of the ACTH receptor (MC2R): genotype and phenotype correlations. ( 21778684 )
2011
22
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
23
Phenotypic characteristics of familial glucocorticoid deficiency (FGD) type 1 and 2. ( 19558534 )
2010
24
Familial glucocorticoid deficiency type 2: a case report. ( 21274326 )
2010
25
Missense mutations in the melanocortin 2 receptor accessory protein that lead to late onset familial glucocorticoid deficiency type 2. ( 20427498 )
2010
26
Familial glucocorticoid deficiency with a point mutation in the ACTH receptor: a case report. ( 19795005 )
2009
27
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
28
The genetics of familial glucocorticoid deficiency. ( 19500760 )
2009
29
A corticotroph pituitary adenoma as the initial presentation of familial glucocorticoid deficiency. ( 19423561 )
2009
30
Nonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiency. ( 19773404 )
2009
31
Familial glucocorticoid deficiency type 1 due to a novel compound heterozygous MC2R mutation. ( 18504396 )
2008
32
A novel variant of familial glucocorticoid deficiency prevalent among the Irish Traveler population. ( 18430777 )
2008
33
Familial glucocorticoid deficiency: advances in the molecular understanding of ACTH action. ( 18059087 )
2008
34
A novel adrenocorticotropin receptor mutation alters its structure and function, causing familial glucocorticoid deficiency. ( 18492762 )
2008
35
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
36
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
37
Novel compound heterozygous mutation of the MC2R gene in a patient with familial glucocorticoid deficiency. ( 17128565 )
2006
38
Unusual presentation of familial glucocorticoid deficiency with a novel MRAP mutation. ( 16868047 )
2006
39
Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2. ( 15654338 )
2005
40
Possible relationship between elevated plasma ACTH and tall stature in familial glucocorticoid deficiency. ( 15673970 )
2005
41
A novel presentation of familial glucocorticoid deficiency (FGD) and current literature review. ( 14960026 )
2004
42
Mutations in a novel gene, encoding a single transmembrane domain protein are associated with familial glucocorticoid deficiency type 2. ( 15666841 )
2004
43
Familial glucocorticoid deficiency type 2 in two neonates. ( 12556930 )
2003
44
Familial glucocorticoid deficiency syndromes. ( 12212552 )
2002
45
Linkage of one gene for familial glucocorticoid deficiency type 2 (FGD2) to chromosome 8q and further evidence of heterogeneity. ( 12384787 )
2002
46
Functional relationships between three novel homozygous mutations in the ACTH receptor gene and familial glucocorticoid deficiency. ( 12110946 )
2002
47
Tall stature in familial glucocorticoid deficiency. ( 11012566 )
2000
48
ACTH receptor mutation in a girl with familial glucocorticoid deficiency. ( 9550364 )
1998
49
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
50
[ACTH receptor, ACTH receptor anomaly, and familial glucocorticoid deficiency]. ( 9702062 )
1998

Variations for Familial Glucocorticoid Deficiency

ClinVar genetic disease variations for Familial Glucocorticoid Deficiency:

6
(show top 50) (show all 218)
# 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.221G> T (p.Ser74Ile) single nucleotide variant Pathogenic rs104894658 GRCh38 Chromosome 18, 13885298: 13885298
3 MC2R NM_000529.2(MC2R): c.409C> T (p.Arg137Trp) single nucleotide variant Pathogenic rs104894660 GRCh37 Chromosome 18, 13885109: 13885109
4 MC2R NM_000529.2(MC2R): c.409C> T (p.Arg137Trp) single nucleotide variant Pathogenic rs104894660 GRCh38 Chromosome 18, 13885110: 13885110
5 MC2R NM_000529.2(MC2R): c.*2138G> T single nucleotide variant Benign rs3744819 GRCh37 Chromosome 18, 13882486: 13882486
6 MC2R NM_000529.2(MC2R): c.*2138G> T single nucleotide variant Benign rs3744819 GRCh38 Chromosome 18, 13882487: 13882487
7 MC2R NM_000529.2(MC2R): c.*1604G> C single nucleotide variant Likely benign rs28926185 GRCh37 Chromosome 18, 13883020: 13883020
8 MC2R NM_000529.2(MC2R): c.*1604G> C single nucleotide variant Likely benign rs28926185 GRCh38 Chromosome 18, 13883021: 13883021
9 MC2R NM_000529.2(MC2R): c.*1452A> G single nucleotide variant Uncertain significance rs34158267 GRCh38 Chromosome 18, 13883173: 13883173
10 MC2R NM_000529.2(MC2R): c.*1452A> G single nucleotide variant Uncertain significance rs34158267 GRCh37 Chromosome 18, 13883172: 13883172
11 MC2R NM_000529.2(MC2R): c.*1390G> A single nucleotide variant Uncertain significance rs886053622 GRCh38 Chromosome 18, 13883235: 13883235
12 MC2R NM_000529.2(MC2R): c.*1390G> A single nucleotide variant Uncertain significance rs886053622 GRCh37 Chromosome 18, 13883234: 13883234
13 MC2R NM_000529.2(MC2R): c.*1049_*1050delAT deletion Uncertain significance rs886053626 GRCh38 Chromosome 18, 13883575: 13883576
14 MC2R NM_000529.2(MC2R): c.*1049_*1050delAT deletion Uncertain significance rs886053626 GRCh37 Chromosome 18, 13883574: 13883575
15 MC2R NM_000529.2(MC2R): c.*1045_*1050delGTGTAT deletion Uncertain significance rs886053627 GRCh38 Chromosome 18, 13883575: 13883580
16 MC2R NM_000529.2(MC2R): c.*1045_*1050delGTGTAT deletion Uncertain significance rs886053627 GRCh37 Chromosome 18, 13883574: 13883579
17 MC2R NM_000529.2(MC2R): c.*1047_*1048delGT deletion Uncertain significance rs886053629 GRCh38 Chromosome 18, 13883577: 13883578
18 MC2R NM_000529.2(MC2R): c.*1047_*1048delGT deletion Uncertain significance rs886053629 GRCh37 Chromosome 18, 13883576: 13883577
19 MC2R NM_000529.2(MC2R): c.*1045_*1048dupGTGT duplication Uncertain significance rs886053628 GRCh38 Chromosome 18, 13883577: 13883580
20 MC2R NM_000529.2(MC2R): c.*1045_*1048dupGTGT duplication Uncertain significance rs886053628 GRCh37 Chromosome 18, 13883576: 13883579
21 MC2R NM_000529.2(MC2R): c.*1012T> A single nucleotide variant Uncertain significance rs886053632 GRCh38 Chromosome 18, 13883613: 13883613
22 MC2R NM_000529.2(MC2R): c.*1012T> A single nucleotide variant Uncertain significance rs886053632 GRCh37 Chromosome 18, 13883612: 13883612
23 MC2R NM_000529.2(MC2R): c.*996_*999delAGTG deletion Uncertain significance rs886053637 GRCh38 Chromosome 18, 13883626: 13883629
24 MC2R NM_000529.2(MC2R): c.*996_*999delAGTG deletion Uncertain significance rs886053637 GRCh37 Chromosome 18, 13883625: 13883628
25 MC2R NM_000529.2(MC2R): c.*963_*968delCAGACA deletion Uncertain significance rs886053641 GRCh37 Chromosome 18, 13883656: 13883661
26 MC2R NM_000529.2(MC2R): c.*963_*968delCAGACA deletion Uncertain significance rs886053641 GRCh38 Chromosome 18, 13883657: 13883662
27 MC2R NM_000529.2(MC2R): c.*880C> T single nucleotide variant Likely benign rs28926184 GRCh37 Chromosome 18, 13883744: 13883744
28 MC2R NM_000529.2(MC2R): c.*880C> T single nucleotide variant Likely benign rs28926184 GRCh38 Chromosome 18, 13883745: 13883745
29 MC2R NM_000529.2(MC2R): c.*615C> T single nucleotide variant Benign rs4464147 GRCh37 Chromosome 18, 13884009: 13884009
30 MC2R NM_000529.2(MC2R): c.*615C> T single nucleotide variant Benign rs4464147 GRCh38 Chromosome 18, 13884010: 13884010
31 MC2R NM_000529.2(MC2R): c.*578C> A single nucleotide variant Uncertain significance rs34482956 GRCh37 Chromosome 18, 13884046: 13884046
32 MC2R NM_000529.2(MC2R): c.*578C> A single nucleotide variant Uncertain significance rs34482956 GRCh38 Chromosome 18, 13884047: 13884047
33 MC2R NM_000529.2(MC2R): c.*470G> A single nucleotide variant Uncertain significance rs886053646 GRCh37 Chromosome 18, 13884154: 13884154
34 MC2R NM_000529.2(MC2R): c.*470G> A single nucleotide variant Uncertain significance rs886053646 GRCh38 Chromosome 18, 13884155: 13884155
35 MC2R NM_000529.2(MC2R): c.*401delC deletion Uncertain significance rs886053648 GRCh37 Chromosome 18, 13884223: 13884223
36 MC2R NM_000529.2(MC2R): c.*401delC deletion Uncertain significance rs886053648 GRCh38 Chromosome 18, 13884224: 13884224
37 MC2R NM_000529.2(MC2R): c.*216G> A single nucleotide variant Uncertain significance rs184146485 GRCh38 Chromosome 18, 13884409: 13884409
38 MC2R NM_000529.2(MC2R): c.*216G> A single nucleotide variant Uncertain significance rs184146485 GRCh37 Chromosome 18, 13884408: 13884408
39 MC2R NM_000529.2(MC2R): c.-117A> T single nucleotide variant Uncertain significance rs886053652 GRCh38 Chromosome 18, 13885635: 13885635
40 MC2R NM_000529.2(MC2R): c.-117A> T single nucleotide variant Uncertain significance rs886053652 GRCh37 Chromosome 18, 13885634: 13885634
41 MRAP NM_178817.3(MRAP): c.-156C> T single nucleotide variant Uncertain significance rs886057001 GRCh37 Chromosome 21, 33664155: 33664155
42 MRAP NM_178817.3(MRAP): c.-156C> T single nucleotide variant Uncertain significance rs886057001 GRCh38 Chromosome 21, 32291844: 32291844
43 MRAP NM_178817.3(MRAP): c.-20G> C single nucleotide variant Likely benign rs76147109 GRCh37 Chromosome 21, 33665434: 33665434
44 MRAP NM_178817.3(MRAP): c.-20G> C single nucleotide variant Likely benign rs76147109 GRCh38 Chromosome 21, 32293123: 32293123
45 MRAP NM_178817.3(MRAP): c.106+15G> C single nucleotide variant Uncertain significance rs746170274 GRCh37 Chromosome 21, 33671403: 33671403
46 MRAP NM_178817.3(MRAP): c.106+15G> C single nucleotide variant Uncertain significance rs746170274 GRCh38 Chromosome 21, 32299092: 32299092
47 MRAP NM_178817.3(MRAP): c.132G> T (p.Val44=) single nucleotide variant Likely benign rs17855142 GRCh37 Chromosome 21, 33678976: 33678976
48 MRAP NM_178817.3(MRAP): c.132G> T (p.Val44=) single nucleotide variant Likely benign rs17855142 GRCh38 Chromosome 21, 32306665: 32306665
49 MRAP NM_178817.3(MRAP): c.389C> T (p.Thr130Ile) single nucleotide variant Likely benign rs114530014 GRCh37 Chromosome 21, 33684177: 33684177
50 MRAP NM_178817.3(MRAP): c.389C> T (p.Thr130Ile) single nucleotide variant Likely benign rs114530014 GRCh38 Chromosome 21, 32311866: 32311866

Expression for Familial Glucocorticoid Deficiency

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

Pathways for Familial Glucocorticoid Deficiency

Pathways related to Familial Glucocorticoid Deficiency according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.79 MC2R MRAP POMC STAR

GO Terms for Familial Glucocorticoid Deficiency

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

# Name GO ID Score Top Affiliating Genes
1 steroid biosynthetic process GO:0006694 9.37 NR0B1 STAR
2 male gonad development GO:0008584 9.33 NR0B1 REN STAR
3 response to immobilization stress GO:0035902 9.32 NR0B1 REN
4 negative regulation of protein localization to plasma membrane GO:1903077 9.26 MRAP MRAP2
5 negative regulation of adenylate cyclase-activating G-protein coupled receptor signaling pathway GO:0106072 8.96 MRAP MRAP2
6 positive regulation of adenylate cyclase-activating G-protein coupled receptor signaling pathway GO:0106071 8.62 MRAP MRAP2

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

# 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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....