MCID: FML063
MIFTS: 51

Familial Glucocorticoid Deficiency

Categories: Endocrine diseases, Genetic diseases, Neuronal diseases, Rare diseases, Skin 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 72
Acth Resistance 53 25
Hereditary Unresponsiveness to Adrenocorticotropic Hormone 25
Isolated Glucocorticoid Deficiency 25
Adrenal Unresponsiveness to Acth 25
Glucocorticoid Deficiency 1 72

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:

KEGG 37 H00256
ICD10 via Orphanet 34 E27.1
Orphanet 59 ORPHA361
UMLS 72 C1859974 C1955741

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: 361DefinitionFamilial 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 2 and glucocorticoid deficiency 1. An important gene associated with Familial Glucocorticoid Deficiency is MC2R (Melanocortin 2 Receptor), and among its related pathways/superpathways is Aldosterone synthesis and secretion. The drugs Hydrocortisone and Hydrocortisone acetate have been mentioned in the context of this disorder. Affiliated tissues include skin, adrenal gland and testes, and related phenotypes are decreased circulating cortisol level and failure to thrive

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. A shortage of adrenal hormones (adrenal insufficiency) causes the signs and symptoms of familial glucocorticoid deficiency. These signs and symptoms often begin in infancy or early childhood. Most affected children first develop low blood sugar (hypoglycemia). These hypoglycemic children can fail to grow and gain weight at the expected rate (failure to thrive). If left untreated, hypoglycemia can lead to seizures, learning difficulties, and other neurological problems. Hypoglycemia that is left untreated for prolonged periods can lead to neurological damage and death. Other features of familial glucocorticoid deficiency can include recurrent infections and skin coloring darker than that of other family members (hyperpigmentation). There are multiple types of familial glucocorticoid deficiency, which are distinguished by their genetic cause.

KEGG : 37
Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disease characterized by glucocorticoid deficiency despite high levels of plasma ACTH. Affected individuals typically present within the first few months of life with symptoms related to cortisol deficiency, including recurrent illnesses or infections, hypoglycemia, convulsions, failure to thrive and shock. The disease is life threatening if untreated. Glucocorticoid replacement is the recommended treatment. It has been reported that FGD is caused by mutation of the ACTH receptor (MC2R) and the accessory protein (MRAP).

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 115)
# Related Disease Score Top Affiliating Genes
1 glucocorticoid deficiency 2 33.9 MRAP GCCD2
2 glucocorticoid deficiency 1 33.8 POMC MRAP MC2R
3 achalasia-addisonianism-alacrima syndrome 30.4 POMC NNT MC2R
4 hypoaldosteronism 30.0 REN POMC
5 diabetes insipidus 29.8 REN POMC
6 hypoadrenocorticism, familial 28.8 STAR POMC NR0B1 MC2R
7 lipoid congenital adrenal hyperplasia 28.2 STAR REN POMC NR0B1 MC2R
8 glucocorticoid deficiency 3 12.2
9 glucocorticoid deficiency 4 with or without mineralocorticoid deficiency 12.2
10 glucocorticoid deficiency 5 11.6
11 adrenocortical unresponsiveness to acth with postreceptor defect 11.3
12 adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency 11.3
13 disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency 11.2
14 autosomal recessive disease 10.5
15 tuberculum sellae meningioma 10.4 POMC MRAP
16 sella turcica neoplasm 10.4 POMC MRAP
17 acute adrenal insufficiency 10.4 REN POMC
18 adrenal cortical adenoma 10.4 POMC MC2R
19 testicular leydig cell tumor 10.4 STAR POMC
20 inappropriate adh syndrome 10.4 REN POMC
21 dowling-degos disease 1 10.4
22 renal tuberculosis 10.3 REN MRAP
23 pituitary-dependent cushing's disease 10.3 POMC NNT
24 hypoglycemia 10.3
25 hyperaldosteronism, familial, type i 10.3 REN POMC
26 premenstrual tension 10.3 REN POMC
27 pontocerebellar hypoplasia, type 2d 10.3 TXNRD2 NNT
28 mineral metabolism disease 10.2 REN POMC
29 adrenal rest tumor 10.2 POMC NNT MC2R
30 endocrine organ benign neoplasm 10.2 REN POMC
31 adrenal adenoma 10.1 REN POMC MC2R
32 adrenal insufficiency, congenital, with 46,xy sex reversal, partial or complete 10.1 STAR POMC NNT
33 aortic valve disease 1 10.1 REN POMC MRAP
34 conn's syndrome 10.1 REN POMC MC2R
35 achalasia 10.1
36 steroid inherited metabolic disorder 10.1 STAR REN POMC
37 thyroid gland disease 10.1 TXNRD2 POMC
38 hypokalemia 10.0 REN POMC
39 adrenal carcinoma 10.0 STAR REN POMC
40 ocular motor apraxia 10.0
41 premature ovarian failure 7 10.0
42 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies 9.9 NR0B1 NNT
43 hypertelorism 9.9
44 hypothyroidism 9.9
45 cerebral palsy 9.9
46 bilirubin metabolic disorder 9.9
47 primary adrenal insufficiency 9.9
48 adrenal hypoplasia, congenital 9.9 STAR NR0B1
49 neuropathy, hereditary sensory and autonomic, type iii 9.8
50 lung disease 9.8

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



Diseases related to Familial Glucocorticoid Deficiency

Symptoms & Phenotypes for Familial Glucocorticoid Deficiency

Human phenotypes related to Familial Glucocorticoid Deficiency:

59 32 (show all 36)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 decreased circulating cortisol level 59 32 obligate (100%) Obligate (100%) HP:0008163
2 failure to thrive 59 32 hallmark (90%) Very frequent (99-80%) HP:0001508
3 hypotension 59 32 hallmark (90%) Very frequent (99-80%) HP:0002615
4 generalized hyperpigmentation 59 32 hallmark (90%) Very frequent (99-80%) HP:0007440
5 abnormality of circulating adrenocorticotropin level 59 32 hallmark (90%) Very frequent (99-80%) HP:0011043
6 ketotic hypoglycemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0012734
7 impaired cortisol response to insulin stimulation test 59 32 hallmark (90%) Very frequent (99-80%) HP:0031076
8 decreased circulating dehydroepiandrosterone level 59 32 hallmark (90%) Very frequent (99-80%) HP:0031214
9 constipation 59 32 frequent (33%) Frequent (79-30%) HP:0002019
10 vomiting 59 32 frequent (33%) Frequent (79-30%) HP:0002013
11 weight loss 59 32 frequent (33%) Frequent (79-30%) HP:0001824
12 anorexia 59 32 frequent (33%) Frequent (79-30%) HP:0002039
13 chronic fatigue 59 32 frequent (33%) Frequent (79-30%) HP:0012432
14 hyponatremia 59 32 frequent (33%) Frequent (79-30%) HP:0002902
15 diarrhea 59 32 frequent (33%) Frequent (79-30%) HP:0002014
16 episodic abdominal pain 59 32 frequent (33%) Frequent (79-30%) HP:0002574
17 hyperkalemia 59 32 frequent (33%) Frequent (79-30%) HP:0002153
18 renal salt wasting 59 32 frequent (33%) Frequent (79-30%) HP:0000127
19 hypernatriuria 59 32 frequent (33%) Frequent (79-30%) HP:0012605
20 hypoglycemic seizures 59 32 frequent (33%) Frequent (79-30%) HP:0002173
21 precocious puberty 59 32 occasional (7.5%) Occasional (29-5%) HP:0000826
22 cryptorchidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000028
23 tall stature 59 32 occasional (7.5%) Occasional (29-5%) HP:0000098
24 decreased circulating aldosterone level 59 32 occasional (7.5%) Occasional (29-5%) HP:0004319
25 testicular adrenal rest tumor 59 32 occasional (7.5%) Occasional (29-5%) HP:0025451
26 intellectual disability 59 32 very rare (1%) Very rare (<4-1%) HP:0001249
27 tetraplegia 59 32 very rare (1%) Very rare (<4-1%) HP:0002445
28 hypertrophic cardiomyopathy 59 32 very rare (1%) Very rare (<4-1%) HP:0001639
29 recurrent urinary tract infections 59 32 very rare (1%) Very rare (<4-1%) HP:0000010
30 azoospermia 59 32 very rare (1%) Very rare (<4-1%) HP:0000027
31 congenital hypothyroidism 59 32 very rare (1%) Very rare (<4-1%) HP:0000851
32 hypoglycemic coma 59 32 very rare (1%) Very rare (<4-1%) HP:0001325
33 leydig cell neoplasia 59 32 very rare (1%) Very rare (<4-1%) HP:0100618
34 autoimmunity 59 Excluded (0%)
35 recurrent infections 59 Frequent (79-30%)
36 adrenal insufficiency 59 Obligate (100%)

Drugs & Therapeutics for Familial Glucocorticoid Deficiency

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

(show all 34)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Hydrocortisone Approved, Vet_approved Phase 4 50-23-7 5754
2
Hydrocortisone acetate Approved, Vet_approved Phase 4 50-03-3
3 glucocorticoids Phase 4
4 Hormones Phase 4
5 insulin Phase 4
6 Insulin, Globin Zinc Phase 4
7 Anti-Inflammatory Agents Phase 4
8 Hydrocortisone 17-butyrate 21-propionate Phase 4
9 Hydrocortisone hemisuccinate Phase 4
10 Hydrocortisone-17-butyrate Phase 4
11
Dexamethasone Approved, Investigational, Vet_approved Phase 2 50-02-2 5743
12
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 2 1177-87-3
13 Hormone Antagonists Phase 2
14 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
15 Antiemetics Phase 2
16 Gastrointestinal Agents Phase 2
17 Peripheral Nervous System Agents Phase 2
18 HIV Protease Inhibitors Phase 2
19
protease inhibitors Phase 2
20 Antineoplastic Agents, Hormonal Phase 2
21 BB 1101 Phase 2
22 Autonomic Agents Phase 2
23
Nicotinamide Approved, Investigational 98-92-0 936
24
Niacin Approved, Investigational, Nutraceutical 59-67-6 938
25
Vitamin C Approved, Nutraceutical 50-81-7 54670067 5785
26 Micronutrients
27 Trace Elements
28 Antioxidants
29 Vitamins
30 Mineralocorticoids
31 Nutrients
32 Protective Agents
33 Vitamin B3
34 Nicotinic Acids

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Rapid Effects of Hydrocortisone on Glucose-induced Insulin Secretion in Healthy Humans Completed NCT00709839 Phase 4 Hydrocortisone;Glucose 33%
2 Developmental Clinical Studies - Reversing Endometrial Glucocorticoid Deficiency in Heavy Menstrual Bleeding Completed NCT01769820 Phase 2 Dexamethasone;placebo
3 Ascorbic Acid Treatment for Patients With Combined Mineralocorticoid and Glucocorticoid Deficiency Secondary to Nicotinamide Nucleotide Transhydrogenase Mutation Unknown status NCT02838472 Ascorbic Acid

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:

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

Publications for Familial Glucocorticoid Deficiency

Articles related to Familial Glucocorticoid Deficiency:

(show top 50) (show all 450)
# Title Authors PMID Year
1
A novel homozygous mutation of the nicotinamide nucleotide transhydrogenase gene in a Japanese patient with familial glucocorticoid deficiency. 38 71
23474776 2013
2
Mutations in NNT encoding nicotinamide nucleotide transhydrogenase cause familial glucocorticoid deficiency. 38 71
22634753 2012
3
A novel adrenocorticotropin receptor mutation alters its structure and function, causing familial glucocorticoid deficiency. 38 71
18492762 2008
4
Unusual presentation of familial glucocorticoid deficiency with a novel MRAP mutation. 38 71
16868047 2006
5
Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2. 38 71
15654338 2005
6
Clinical, genetic, and functional characterization of adrenocorticotropin receptor mutations using a novel receptor assay. 38 71
12213892 2002
7
Demonstration by transfection studies that mutations in the adrenocorticotropin receptor gene are one cause of the hereditary syndrome of glucocorticoid deficiency. 38 71
8636348 1996
8
Molecular insights into inherited ACTH resistance syndromes. 38 71
18407210 1994
9
Hereditary isolated glucocorticoid deficiency is associated with abnormalities of the adrenocorticotropin receptor gene. 38 71
8227361 1993
10
Familial glucocorticoid deficiency associated with point mutation in the adrenocorticotropin receptor. 38 71
8094489 1993
11
NNT mutations: a cause of primary adrenal insufficiency, oxidative stress and extra-adrenal defects. 71
27129361 2016
12
Management of congenital adrenal hyperplasia: beyond conventional glucocorticoid therapy. 38
31295195 2019
13
Posterior pituitary dysfunction following traumatic brain injury: review. 38
30334138 2019
14
ACTH signalling and adrenal development: lessons from mouse models. 38
31189126 2019
15
The incidence of adrenal crisis in the postoperative period of HPA-axis insufficiency after surgical treatment for Cushing's syndrome. 38
31167165 2019
16
SGPL1 Deficiency: A Rare Cause of Primary Adrenal Insufficiency. 38
30517686 2019
17
Management of congenital adrenal hyperplasia: beyond conventional glucocorticoid therapy. 38
31058654 2019
18
Isolated glucocorticoid deficiency: Genetic causes and animal models. 38
30817990 2019
19
Primary Cortisol Deficiency and Growth Hormone Deficiency in a Neonate With Hypoglycemia: Coincidence or Consequence? 38
30963141 2019
20
Early Clinical Indicators of Addison Disease in Adults With Type 1 Diabetes: A Nationwide, Observational, Cohort Study. 38
30476180 2019
21
Endogenous glucocorticoids prevent gastric metaplasia by suppressing spontaneous inflammation. 38
30652972 2019
22
Novel Melanocortin 2 Receptor Variant in a Chinese Infant With Familial Glucocorticoid Deficiency Type 1, Case Report and Review of Literature. 38
31244773 2019
23
A novel de novo frameshift mutation in NR0B1 and low prenatal estriol in adrenal hypoplasia congenita. 38
30129976 2018
24
Consequences of mutations and inborn errors of selenoprotein biosynthesis and functions. 38
29709707 2018
25
ACTH Resistance Syndrome: An Experience of Three Cases. 38
30766828 2018
26
Metabolic Profiling of Glucocorticoid Deficiency: A "Fishing" Expedition. 38
30389507 2018
27
Glucocorticoid deficiency causes transcriptional and post-transcriptional reprogramming of glutamine metabolism. 38
30266295 2018
28
Clinical and molecular report of c.1331 + 1G > A mutation of the AAAS gene in a Moroccan family with Allgrove syndrome: a case report. 38
29866068 2018
29
[Canine hypoadrenocorticism - an update on pathogenesis, diagnosis and treatment]. 38
29898478 2018
30
Pathophysiology of melanocortin receptors and their accessory proteins. 38
29678289 2018
31
Fully Automated Pipetting Sorting System for Different Morphological Phenotypes of Zebrafish Embryos. 38
29220613 2018
32
Prednisolone dosages in Addisonian dogs after integration of ACTH measurement into treatment surveillance. 38
29727896 2018
33
Triple-A syndrome: a wide spectrum of adrenal dysfunction. 38
29237697 2018
34
Clues for early detection of autoimmune Addison's disease - myths and realities. 38
29098731 2018
35
Management of hypoadrenocorticism (Addison's disease) in dogs. 38
30050862 2018
36
Glucocorticoid deficiency and syndrome of inappropriate antidiuresis: an underdiagnosed association? 38
29096530 2018
37
The Role of the Lateral Hypothalamus in Violent Intraspecific Aggression-The Glucocorticoid Deficit Hypothesis. 38
29937719 2018
38
Growth Failure in Children with Systemic Juvenile Idiopathic Arthritis and Prolonged Inflammation despite Treatment with Biologicals: Late Normalization of Height by Combined Hormonal Therapies. 38
29940586 2018
39
NNT is a key regulator of adrenal redox homeostasis and steroidogenesis in male mice. 38
29046340 2018
40
Graves' Thyrotoxicosis Leading to Adrenal Decompensation and Hyperandrogenemia in a Pediatric Patient with Salt-Wasting Congenital Adrenal Hyperplasia. 38
30595926 2018
41
Incidence and Characteristics of Adrenal Crisis in Children Younger than 7 Years with 21-Hydroxylase Deficiency: A Nationwide Survey in Japan. 38
29455197 2018
42
A rare cause of primary adrenal insufficiency due to a homozygous Arg188Cys mutation in the STAR gene. 38
29576868 2018
43
Genetic Disruption of 21-Hydroxylase in Zebrafish Causes Interrenal Hyperplasia. 38
28938470 2017
44
MECHANISMS IN ENDOCRINOLOGY: Update on pathogenesis of primary adrenal insufficiency: beyond steroid enzyme deficiency and autoimmune adrenal destruction. 38
28450305 2017
45
Endogenous Glucocorticoid Deficiency in Psoriasis Promotes Inflammation and Abnormal Differentiation. 38
28259685 2017
46
A Pilot Study Evaluating Therapeutic Response of Different Dosage of Oral Glucocorticoid in Two Children with Familial Glucocorticoid Deficiency Presenting with Diffuse Mucocutaneous Hyperpigmentation. 38
28400640 2017
47
Early diagnosis in familial glucocorticoid deficiency. 38
28458768 2017
48
Disorders in the initial steps of steroid hormone synthesis. 38
26960203 2017
49
Neonatal presentation of familial glucocorticoid deficiency with a MRAP mutation: A case report. 38
27660747 2016
50
Extensive Regulation of Diurnal Transcription and Metabolism by Glucocorticoids. 38
27941970 2016

Variations for Familial Glucocorticoid Deficiency

ClinVar genetic disease variations for Familial Glucocorticoid Deficiency:

6 (show top 50) (show all 110)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 MC2R NM_000529.2(MC2R): c.459dup (p.Ile154fs) duplication Pathogenic rs1555619430 18:13885059-13885059 18:13885060-13885060
2 MC2R NM_000529.2(MC2R): c.634del (p.Arg212fs) deletion Pathogenic rs1226345778 18:13884884-13884884 18:13884885-13884885
3 MC2R NM_000529.2(MC2R): c.573C> A (p.Cys191Ter) single nucleotide variant Pathogenic rs762692123 18:13884945-13884945 18:13884946-13884946
4 MC2R NM_000529.2(MC2R): c.560del (p.Val187fs) deletion Pathogenic rs1555619406 18:13884958-13884958 18:13884959-13884959
5 MC2R NM_000529.2(MC2R): c.433C> T (p.Arg145Cys) single nucleotide variant Pathogenic rs139218324 18:13885085-13885085 18:13885086-13885086
6 MC2R NM_000529.2(MC2R): c.410G> C (p.Arg137Pro) single nucleotide variant Pathogenic rs1208417750 18:13885108-13885108 18:13885109-13885109
7 MC2R NM_000529.2(MC2R): c.221G> T (p.Ser74Ile) single nucleotide variant Pathogenic rs104894658 18:13885297-13885297 18:13885298-13885298
8 MC2R NM_000529.2(MC2R): c.409C> T (p.Arg137Trp) single nucleotide variant Pathogenic rs104894660 18:13885109-13885109 18:13885110-13885110
9 MC2R NM_000529.2(MC2R): c.465G> C (p.Trp155Cys) single nucleotide variant Likely pathogenic rs1555619429 18:13885053-13885053 18:13885054-13885054
10 MC2R NM_000529.2(MC2R): c.80C> G (p.Pro27Arg) single nucleotide variant Uncertain significance rs28926178 18:13885438-13885438 18:13885439-13885439
11 MRAP NM_206898.1(MRAP): c.207-2855G> A single nucleotide variant Uncertain significance rs201238667 21:33684007-33684007 21:32311696-32311696
12 MRAP NM_206898.1(MRAP): c.207-2628A> G single nucleotide variant Uncertain significance rs200448756 21:33684234-33684234 21:32311923-32311923
13 MC2R NM_000529.2(MC2R): c.*27C> T single nucleotide variant Uncertain significance rs886053650 18:13884597-13884597 18:13884598-13884598
14 MC2R NM_000529.2(MC2R): c.435C> T (p.Arg145=) single nucleotide variant Uncertain significance rs369830440 18:13885083-13885083 18:13885084-13885084
15 MC2R NM_000529.2(MC2R): c.98C> T (p.Thr33Ile) single nucleotide variant Uncertain significance rs559032155 18:13885420-13885420 18:13885421-13885421
16 MC2R NM_000529.2(MC2R): c.318C> T (p.Ile106=) single nucleotide variant Uncertain significance rs147706299 18:13885200-13885200 18:13885201-13885201
17 MC2R NM_000529.2(MC2R): c.*578C> A single nucleotide variant Uncertain significance rs34482956 18:13884046-13884046 18:13884047-13884047
18 MC2R NM_000529.2(MC2R): c.*470G> A single nucleotide variant Uncertain significance rs886053646 18:13884154-13884154 18:13884155-13884155
19 MC2R NM_000529.2(MC2R): c.*401del deletion Uncertain significance rs886053648 18:13884223-13884223 18:13884224-13884224
20 MC2R NM_000529.2(MC2R): c.*216G> A single nucleotide variant Uncertain significance rs184146485 18:13884408-13884408 18:13884409-13884409
21 MC2R NM_000529.2(MC2R): c.-117A> T single nucleotide variant Uncertain significance rs886053652 18:13885634-13885634 18:13885635-13885635
22 MRAP NM_206898.1(MRAP): c.-156C> T single nucleotide variant Uncertain significance rs886057001 21:33664155-33664155 21:32291844-32291844
23 MC2R NM_000529.2(MC2R): c.*1452A> G single nucleotide variant Uncertain significance rs34158267 18:13883172-13883172 18:13883173-13883173
24 MC2R NM_000529.2(MC2R): c.*1390G> A single nucleotide variant Uncertain significance rs886053622 18:13883234-13883234 18:13883235-13883235
25 MC2R NM_000529.2(MC2R): c.*1049_*1050del deletion Uncertain significance rs886053626 18:13883574-13883575 18:13883575-13883576
26 MC2R NM_000529.2(MC2R): c.*1045_*1050del deletion Uncertain significance rs886053627 18:13883574-13883579 18:13883575-13883580
27 MC2R NM_000529.2(MC2R): c.*997_*998GT[25] short repeat Uncertain significance rs67239935 18:13883576-13883577 18:13883577-13883578
28 MC2R NM_000529.2(MC2R): c.*997_*998GT[28] short repeat Uncertain significance rs67239935 18:13883576-13883579 18:13883577-13883580
29 MC2R NM_000529.2(MC2R): c.*1012T> A single nucleotide variant Uncertain significance rs886053632 18:13883612-13883612 18:13883613-13883613
30 MC2R NM_000529.2(MC2R): c.*996_*999del deletion Uncertain significance rs886053637 18:13883625-13883628 18:13883626-13883629
31 MC2R NM_000529.2(MC2R): c.*963_*968del deletion Uncertain significance rs886053641 18:13883656-13883661 18:13883657-13883662
32 MRAP NM_206898.1(MRAP): c.-157G> A single nucleotide variant Uncertain significance rs886057000 21:33664154-33664154 21:32291843-32291843
33 MRAP NM_206898.1(MRAP): c.-40_-39AG[3] short repeat Uncertain significance rs749127883 21:33665420-33665421 21:32293109-32293110
34 MRAP NM_206898.1(MRAP): c.206+13G> C single nucleotide variant Uncertain significance rs749474036 21:33679063-33679063 21:32306752-32306752
35 MRAP NM_206898.1(MRAP): c.207-2588C> G single nucleotide variant Uncertain significance rs146788457 21:33684274-33684274 21:32311963-32311963
36 MC2R NM_000529.2(MC2R): c.*2528T> G single nucleotide variant Uncertain significance rs150288954 18:13882096-13882096 18:13882097-13882097
37 MC2R NM_000529.2(MC2R): c.*1941_*1942TG[1] short repeat Uncertain significance rs886053620 18:13882680-13882681 18:13882681-13882682
38 MC2R NM_000529.2(MC2R): c.*1265A> C single nucleotide variant Uncertain significance rs886053624 18:13883359-13883359 18:13883360-13883360
39 MC2R NM_000529.2(MC2R): c.*998_*1008delinsA indel Uncertain significance rs886053634 18:13883616-13883626 18:13883617-13883627
40 MC2R NM_000529.2(MC2R): c.*848A> T single nucleotide variant Uncertain significance rs766857800 18:13883776-13883776 18:13883777-13883777
41 MC2R NM_000529.2(MC2R): c.*471C> A single nucleotide variant Uncertain significance rs142527936 18:13884153-13884153 18:13884154-13884154
42 MC2R NM_000529.2(MC2R): c.*406C> A single nucleotide variant Uncertain significance rs553257738 18:13884218-13884218 18:13884219-13884219
43 MC2R NM_000529.2(MC2R): c.*390A> G single nucleotide variant Uncertain significance rs749097541 18:13884234-13884234 18:13884235-13884235
44 MC2R NM_000529.2(MC2R): c.*376G> C single nucleotide variant Uncertain significance rs886053649 18:13884248-13884248 18:13884249-13884249
45 MC2R NM_000529.2(MC2R): c.*1667G> A single nucleotide variant Uncertain significance rs886053621 18:13882957-13882957 18:13882958-13882958
46 MC2R NM_000529.2(MC2R): c.*1619G> A single nucleotide variant Uncertain significance rs570920789 18:13883005-13883005 18:13883006-13883006
47 MC2R NM_000529.2(MC2R): c.*1566G> T single nucleotide variant Uncertain significance rs150610014 18:13883058-13883058 18:13883059-13883059
48 MC2R NM_000529.2(MC2R): c.*1274T> A single nucleotide variant Uncertain significance rs886053623 18:13883350-13883350 18:13883351-13883351
49 MC2R NM_000529.2(MC2R): c.*1092G> A single nucleotide variant Uncertain significance rs886053625 18:13883532-13883532 18:13883533-13883533
50 MC2R NM_000529.2(MC2R): c.*997_*998GT[24] short repeat Uncertain significance rs67239935 18:13883576-13883579 18:13883577-13883580

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 STAR POMC NR0B1 MRAP MC2R

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 regulation of blood pressure GO:0008217 9.4 REN POMC
2 steroid biosynthetic process GO:0006694 9.37 STAR NR0B1
3 male gonad development GO:0008584 9.33 STAR REN NR0B1
4 response to immobilization stress GO:0035902 9.32 REN NR0B1
5 negative regulation of protein localization to plasma membrane GO:1903077 9.26 MRAP2 MRAP
6 negative regulation of adenylate cyclase-activating G protein-coupled receptor signaling pathway GO:0106072 8.96 MRAP2 MRAP
7 positive regulation of adenylate cyclase-activating G protein-coupled receptor signaling pathway GO:0106071 8.62 MRAP2 MRAP

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 POMC MRAP2 MRAP
2 type 5 melanocortin receptor binding GO:0031783 9.32 MRAP2 MRAP
3 corticotropin hormone receptor binding GO:0031780 9.26 MRAP2 MRAP
4 type 3 melanocortin receptor binding GO:0031781 9.13 POMC MRAP2 MRAP
5 type 1 melanocortin receptor binding GO:0070996 8.8 POMC MRAP2 MRAP

Sources for Familial Glucocorticoid Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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