MCID: FML063
MIFTS: 58

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 12 52 25 58 36 15
Glucocorticoid Deficiency 25 6 71
Acth Resistance 52 25
Hereditary Unresponsiveness to Adrenocorticotropic Hormone 25
Glucocorticoid Deficiency, Familial 74
Isolated Glucocorticoid Deficiency 25
Adrenal Unresponsiveness to Acth 25
Glucocorticoid Deficiency 1 71

Characteristics:

Orphanet epidemiological data:

58
familial glucocorticoid deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

Classifications:

Orphanet: 58  
Rare endocrine diseases


Summaries for Familial Glucocorticoid Deficiency

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 361 Definition Familial 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. Epidemiology The 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 description FGD 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). Etiology FGD 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 methods Diagnosis 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 diagnosis The 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 diagnosis Prenatal diagnosis is possible in families with a known disease causing mutation but is rarely performed. Genetic counseling FDG is inherited in an autosomal recessive manner. Genetic counseling is possible. Management and treatment Treatment 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. Prognosis The 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 achalasia-addisonianism-alacrima syndrome. An important gene associated with Familial Glucocorticoid Deficiency is MC2R (Melanocortin 2 Receptor), and among its related pathways/superpathways are Aldosterone synthesis and secretion and Diseases of metabolism. The drugs Hydrocortisone and Hydrocortisone acetate have been mentioned in the context of this disorder. Affiliated tissues include adrenal gland, adrenal cortex and cortex, and related phenotypes are decreased circulating cortisol level and failure to thrive

Disease Ontology : 12 An adrenal cortex disease that is characterized by insufficent production of glucocorticoids.

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 : 36 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).

Wikipedia : 74 Glucocorticoid deficiency 1 is an adrenocortical failure characterized by low levels of plasma cortisol... more...

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 123)
# Related Disease Score Top Affiliating Genes
1 glucocorticoid deficiency 1 34.2 POMC MRAP MC2R
2 achalasia-addisonianism-alacrima syndrome 30.4 STAR POMC NR0B1 NNT MC2R AAAS
3 hypoaldosteronism 30.3 REN POMC
4 adrenal gland disease 30.0 STAR REN POMC NR0B1 MC2R CYP11A1
5 hypoadrenocorticism, familial 29.9 STAR REN POMC NR0B1 MC2R CYP11A1
6 lipoid congenital adrenal hyperplasia 29.8 STAR REN POMC NR0B1 MRAP MC2R
7 glucocorticoid deficiency 2 12.3
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 waterhouse-friderichsen syndrome 10.5 POMC MC2R
15 autosomal recessive disease 10.5
16 corticosteroid-binding globulin deficiency 10.5 STAR POMC MC2R
17 adrenal rest tumor 10.5 POMC MC2R
18 premenstrual tension 10.5 REN POMC
19 acute adrenal insufficiency 10.5 REN POMC CYP11A1
20 corticosterone methyloxidase type i deficiency 10.5 REN POMC NR0B1
21 adrenocortical carcinoma, hereditary 10.4 STAR MC2R CYP11A1
22 adrenal hypoplasia, congenital 10.4 STAR POMC NR0B1 MC2R
23 pseudohermaphroditism 10.4 STAR POMC NR0B1
24 inappropriate adh syndrome 10.4 REN POMC
25 leydig cell tumor 10.4 STAR NR0B1 CYP11A1
26 adrenal cortical carcinoma 10.4 REN POMC MC2R CYP11A1
27 adrenal cortical adenoma 10.4 REN POMC MC2R CYP11A1
28 adrenal insufficiency, congenital, with 46,xy sex reversal, partial or complete 10.4 STAR POMC NR0B1 CYP11A1
29 adrenal adenoma 10.4 REN POMC MC2R CYP11A1
30 dowling-degos disease 1 10.4
31 46,xy sex reversal 2 10.4 STAR NR0B1 MC2R CYP11A1
32 ochronosis 10.4 MRAP MC1R
33 cortisone reductase deficiency 10.4 POMC NNT
34 disorders of sexual development 10.3 STAR POMC NR0B1 CYP11A1
35 hyperandrogenism 10.3 POMC MC4R CYP11A1
36 hypoglycemia 10.3
37 premature ovarian failure 1 10.3 STAR POMC NR0B1 CYP11A1
38 cryptorchidism, unilateral or bilateral 10.3 STAR POMC NR0B1 CYP11A1
39 graves disease 1 10.3 TXNRD2 POMC
40 46,xy sex reversal 10.3 STAR POMC NR0B1 MC2R CYP11A1
41 adrenal carcinoma 10.3 STAR REN POMC NR0B1 CYP11A1
42 conn's syndrome 10.2 REN POMC NR0B1 MC2R CYP11A1
43 ovarian disease 10.2 STAR REN POMC CYP11A1
44 steroid inherited metabolic disorder 10.2 STAR REN POMC NR0B1 MC2R CYP11A1
45 meier-gorlin syndrome 1 10.2 MCM5 MCM4 MCM2
46 adrenal cortical hypofunction 10.2 STAR REN POMC NR0B1 MC2R CYP11A1
47 adrenal cortex disease 10.2 STAR REN POMC NR0B1 MC2R CYP11A1
48 leptin deficiency or dysfunction 10.2 POMC MC5R MC4R MC3R MC2R
49 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies 10.2 TXNRD2 NR0B1 NNT MCM4 MC2R CYP11A1
50 achalasia 10.1

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:

58 31 (show all 36)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 decreased circulating cortisol level 58 31 obligate (100%) Obligate (100%) HP:0008163
2 failure to thrive 58 31 hallmark (90%) Very frequent (99-80%) HP:0001508
3 generalized hyperpigmentation 58 31 hallmark (90%) Very frequent (99-80%) HP:0007440
4 hypotension 58 31 hallmark (90%) Very frequent (99-80%) HP:0002615
5 abnormality of circulating adrenocorticotropin level 58 31 hallmark (90%) Very frequent (99-80%) HP:0011043
6 ketotic hypoglycemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0012734
7 impaired cortisol response to insulin stimulation test 58 31 hallmark (90%) Very frequent (99-80%) HP:0031076
8 decreased circulating dehydroepiandrosterone level 58 31 hallmark (90%) Very frequent (99-80%) HP:0031214
9 vomiting 58 31 frequent (33%) Frequent (79-30%) HP:0002013
10 weight loss 58 31 frequent (33%) Frequent (79-30%) HP:0001824
11 anorexia 58 31 frequent (33%) Frequent (79-30%) HP:0002039
12 chronic fatigue 58 31 frequent (33%) Frequent (79-30%) HP:0012432
13 constipation 58 31 frequent (33%) Frequent (79-30%) HP:0002019
14 hyponatremia 58 31 frequent (33%) Frequent (79-30%) HP:0002902
15 hyperkalemia 58 31 frequent (33%) Frequent (79-30%) HP:0002153
16 diarrhea 58 31 frequent (33%) Frequent (79-30%) HP:0002014
17 episodic abdominal pain 58 31 frequent (33%) Frequent (79-30%) HP:0002574
18 renal salt wasting 58 31 frequent (33%) Frequent (79-30%) HP:0000127
19 hypernatriuria 58 31 frequent (33%) Frequent (79-30%) HP:0012605
20 hypoglycemic seizures 58 31 frequent (33%) Frequent (79-30%) HP:0002173
21 cryptorchidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000028
22 precocious puberty 58 31 occasional (7.5%) Occasional (29-5%) HP:0000826
23 tall stature 58 31 occasional (7.5%) Occasional (29-5%) HP:0000098
24 decreased circulating aldosterone level 58 31 occasional (7.5%) Occasional (29-5%) HP:0004319
25 testicular adrenal rest tumor 58 31 occasional (7.5%) Occasional (29-5%) HP:0025451
26 intellectual disability 58 31 very rare (1%) Very rare (<4-1%) HP:0001249
27 hypertrophic cardiomyopathy 58 31 very rare (1%) Very rare (<4-1%) HP:0001639
28 recurrent urinary tract infections 58 31 very rare (1%) Very rare (<4-1%) HP:0000010
29 azoospermia 58 31 very rare (1%) Very rare (<4-1%) HP:0000027
30 tetraplegia 58 31 very rare (1%) Very rare (<4-1%) HP:0002445
31 congenital hypothyroidism 58 31 very rare (1%) Very rare (<4-1%) HP:0000851
32 hypoglycemic coma 58 31 very rare (1%) Very rare (<4-1%) HP:0001325
33 leydig cell neoplasia 58 31 very rare (1%) Very rare (<4-1%) HP:0100618
34 autoimmunity 58 Excluded (0%)
35 recurrent infections 58 Frequent (79-30%)
36 adrenal insufficiency 58 Obligate (100%)

GenomeRNAi Phenotypes related to Familial Glucocorticoid Deficiency according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Reduced mammosphere formation GR00396-S 9.23 MC2R MC4R MC5R MCM2 MCM5 NR0B1

MGI Mouse Phenotypes related to Familial Glucocorticoid Deficiency:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.22 AAAS CYP11A1 MC1R MC2R MC3R MC4R
2 growth/size/body region MP:0005378 10.1 AAAS CYP11A1 MC1R MC2R MC3R MC4R
3 endocrine/exocrine gland MP:0005379 10.07 AAAS CYP11A1 MC2R MC5R MCM2 MCM4
4 hematopoietic system MP:0005397 10 CYP11A1 MC1R MC2R MC4R MCM2 MCM4
5 homeostasis/metabolism MP:0005376 9.97 AAAS CYP11A1 MC2R MC3R MC4R MC5R
6 immune system MP:0005387 9.7 CYP11A1 MC1R MC2R MC3R MC4R MCM2
7 neoplasm MP:0002006 9.1 MC1R MC4R MCM2 MCM4 NR0B1 POMC

Drugs & Therapeutics for Familial Glucocorticoid Deficiency

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

(show all 27)
# 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 Insulin, Globin Zinc Phase 4
5 Hormones Phase 4
6 Hydrocortisone 17-butyrate 21-propionate Phase 4
7 insulin Phase 4
8 Anti-Inflammatory Agents Phase 4
9 Hydrocortisone hemisuccinate Phase 4
10
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 2 1177-87-3
11
Dexamethasone Approved, Investigational, Vet_approved Phase 2 50-02-2 5743
12 Gastrointestinal Agents Phase 2
13 Antineoplastic Agents, Hormonal Phase 2
14 Antiemetics Phase 2
15 Hormone Antagonists Phase 2
16
Nicotinamide Approved, Investigational 98-92-0 936
17
Niacin Approved, Investigational, Nutraceutical 59-67-6 938
18
Vitamin C Approved, Nutraceutical 50-81-7 5785 54670067
19 Trace Elements
20 Micronutrients
21 Vitamins
22 Mineralocorticoids
23 Nicotinic Acids
24 Vitamin B3
25 Antioxidants
26 Nutrients
27 Protective Agents

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:

40
Adrenal Gland, Adrenal Cortex, Cortex, Skin, Testes, Brain, Kidney

Publications for Familial Glucocorticoid Deficiency

Articles related to Familial Glucocorticoid Deficiency:

(show top 50) (show all 463)
# Title Authors PMID Year
1
A novel homozygous mutation of the nicotinamide nucleotide transhydrogenase gene in a Japanese patient with familial glucocorticoid deficiency. 6 61
23474776 2013
2
Mutations in NNT encoding nicotinamide nucleotide transhydrogenase cause familial glucocorticoid deficiency. 6 61
22634753 2012
3
A novel adrenocorticotropin receptor mutation alters its structure and function, causing familial glucocorticoid deficiency. 6 61
18492762 2008
4
Unusual presentation of familial glucocorticoid deficiency with a novel MRAP mutation. 61 6
16868047 2006
5
Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2. 6 61
15654338 2005
6
Clinical, genetic, and functional characterization of adrenocorticotropin receptor mutations using a novel receptor assay. 61 6
12213892 2002
7
Demonstration by transfection studies that mutations in the adrenocorticotropin receptor gene are one cause of the hereditary syndrome of glucocorticoid deficiency. 6 61
8636348 1996
8
Molecular insights into inherited ACTH resistance syndromes. 61 6
18407210 1994
9
Hereditary isolated glucocorticoid deficiency is associated with abnormalities of the adrenocorticotropin receptor gene. 6 61
8227361 1993
10
Familial glucocorticoid deficiency associated with point mutation in the adrenocorticotropin receptor. 61 6
8094489 1993
11
NNT mutations: a cause of primary adrenal insufficiency, oxidative stress and extra-adrenal defects. 6
27129361 2016
12
Identification of scavenger receptor BI as a potential screening candidate for congenital primary adrenal insufficiency in humans. 61
32369415 2020
13
[Modified-release hydrocortisone for glucocorticoid deficiency]. 61
32394073 2020
14
The management of glucocorticoid deficiency: Current and future perspectives. 61
32145273 2020
15
GDF15 Is Elevated in Conditions of Glucocorticoid Deficiency and Is Modulated by Glucocorticoid Replacement. 61
31853550 2020
16
Glucocorticoids Reverse Diluted Hyponatremia Through Inhibiting Arginine Vasopressin Pathway in Heart Failure Rats. 61
32390535 2020
17
Glucocorticoid replacement regimens for treating congenital adrenal hyperplasia. 61
32190901 2020
18
Hypophysitis: An update on the novel forms, diagnosis and management of disorders of pituitary inflammation. 61
31866206 2019
19
Familial hypogammaglobulinemia with high RTE and naïve T lymphocytes. 61
31468084 2019
20
CLINICAL COURSE OF A UNIQUE CASE OF ALLGROVE SYNDROME AND CHALLENGES OF HYPOGLYCEMIA MANAGEMENT. 61
31967070 2019
21
ELECTROCARDIOGRAM CHANGES IN ADDISON DISEASE: POTENTIAL CLINICAL MARKER FOR ADRENAL CRISIS. 61
31967059 2019
22
Structure and mechanism of mitochondrial proton-translocating transhydrogenase. 61
31462775 2019
23
Familial glucocorticoid deficiency presenting with hyperpigmentation, gigantism, and motor development delay: a case report. 61
31481085 2019
24
Management of congenital adrenal hyperplasia: beyond conventional glucocorticoid therapy. 61
31295195 2019
25
The incidence of adrenal crisis in the postoperative period of HPA axis insufficiency after surgical treatment for Cushing's syndrome. 61
31167165 2019
26
ACTH signalling and adrenal development: lessons from mouse models. 61
31189126 2019
27
Posterior pituitary dysfunction following traumatic brain injury: review. 61
30334138 2019
28
Isolated glucocorticoid deficiency: Genetic causes and animal models. 61
30817990 2019
29
SGPL1 Deficiency: A Rare Cause of Primary Adrenal Insufficiency. 61
30517686 2019
30
Management of congenital adrenal hyperplasia: beyond conventional glucocorticoid therapy. 61
31058654 2019
31
Primary Cortisol Deficiency and Growth Hormone Deficiency in a Neonate With Hypoglycemia: Coincidence or Consequence? 61
30963141 2019
32
Early Clinical Indicators of Addison Disease in Adults With Type 1 Diabetes: A Nationwide, Observational, Cohort Study. 61
30476180 2019
33
Endogenous glucocorticoids prevent gastric metaplasia by suppressing spontaneous inflammation. 61
30652972 2019
34
Novel Melanocortin 2 Receptor Variant in a Chinese Infant With Familial Glucocorticoid Deficiency Type 1, Case Report and Review of Literature. 61
31244773 2019
35
Hyponatremia and Glucocorticoid Deficiency. 61
32097946 2019
36
A novel de novo frameshift mutation in NR0B1 and low prenatal estriol in adrenal hypoplasia congenita. 61
30129976 2018
37
Consequences of mutations and inborn errors of selenoprotein biosynthesis and functions. 61
29709707 2018
38
Metabolic Profiling of Glucocorticoid Deficiency: A "Fishing" Expedition. 61
30389507 2018
39
ACTH Resistance Syndrome: An Experience of Three Cases. 61
30766828 2018
40
Glucocorticoid deficiency causes transcriptional and post-transcriptional reprogramming of glutamine metabolism. 61
30266295 2018
41
[Canine hypoadrenocorticism - an update on pathogenesis, diagnosis and treatment]. 61
29898478 2018
42
Clinical and molecular report of c.1331 + 1G > A mutation of the AAAS gene in a Moroccan family with Allgrove syndrome: a case report. 61
29866068 2018
43
Pathophysiology of melanocortin receptors and their accessory proteins. 61
29678289 2018
44
Prednisolone dosages in Addisonian dogs after integration of ACTH measurement into treatment surveillance. 61
29727896 2018
45
Fully Automated Pipetting Sorting System for Different Morphological Phenotypes of Zebrafish Embryos. 61
29220613 2018
46
Triple-A syndrome: a wide spectrum of adrenal dysfunction. 61
29237697 2018
47
Clues for early detection of autoimmune Addison's disease - myths and realities. 61
29098731 2018
48
Management of hypoadrenocorticism (Addison's disease) in dogs. 61
30050862 2018
49
The Role of the Lateral Hypothalamus in Violent Intraspecific Aggression-The Glucocorticoid Deficit Hypothesis. 61
29937719 2018
50
NNT is a key regulator of adrenal redox homeostasis and steroidogenesis in male mice. 61
29046340 2018

Variations for Familial Glucocorticoid Deficiency

ClinVar genetic disease variations for Familial Glucocorticoid Deficiency:

6 (show all 37) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MC2R NM_000529.2(MC2R):c.221G>T (p.Ser74Ile)SNV Pathogenic 3258 rs104894658 18:13885297-13885297 18:13885298-13885298
2 MC2R NM_000529.2(MC2R):c.409C>T (p.Arg137Trp)SNV Pathogenic 3265 rs104894660 18:13885109-13885109 18:13885110-13885110
3 MC2R NM_000529.2(MC2R):c.410G>C (p.Arg137Pro)SNV Pathogenic 492865 rs1208417750 18:13885108-13885108 18:13885109-13885109
4 MC2R NM_000529.2(MC2R):c.560del (p.Val187fs)deletion Pathogenic 492868 rs1555619406 18:13884958-13884958 18:13884959-13884959
5 MC2R NM_000529.2(MC2R):c.433C>T (p.Arg145Cys)SNV Pathogenic 492866 rs139218324 18:13885085-13885085 18:13885086-13885086
6 MC2R NM_000529.2(MC2R):c.634del (p.Arg212fs)deletion Pathogenic 492870 rs1226345778 18:13884884-13884884 18:13884885-13884885
7 MC2R NM_000529.2(MC2R):c.573C>A (p.Cys191Ter)SNV Pathogenic 492869 rs762692123 18:13884945-13884945 18:13884946-13884946
8 MC2R NM_000529.2(MC2R):c.459dup (p.Ile154fs)duplication Pathogenic 444065 rs1555619430 18:13885058-13885059 18:13885059-13885060
9 MC2R NM_000529.2(MC2R):c.465G>C (p.Trp155Cys)SNV Likely pathogenic 492867 rs1555619429 18:13885053-13885053 18:13885054-13885054
10 MC2R NM_000529.2(MC2R):c.318C>T (p.Ile106=)SNV Conflicting interpretations of pathogenicity 80762 rs147706299 18:13885200-13885200 18:13885201-13885201
11 MC2R NM_000529.2(MC2R):c.*1390G>ASNV Uncertain significance 326142 rs886053622 18:13883234-13883234 18:13883235-13883235
12 MC2R NM_000529.2(MC2R):c.*1049_*1050deldeletion Uncertain significance 326148 rs886053626 18:13883574-13883575 18:13883575-13883576
13 MC2R NM_000529.2(MC2R):c.*1045_*1050deldeletion Uncertain significance 326149 rs886053627 18:13883574-13883579 18:13883575-13883580
14 MC2R NM_000529.2(MC2R):c.*1047_*1048delGTshort repeat Uncertain significance 326152 rs67239935 18:13883576-13883577 18:13883577-13883578
15 MC2R NM_000529.2(MC2R):c.*1045_*1048dupGTGTshort repeat Uncertain significance 326151 rs67239935 18:13883575-13883576 18:13883576-13883577
16 MC2R NM_000529.2(MC2R):c.*996_*999deldeletion Uncertain significance 326161 rs886053637 18:13883625-13883628 18:13883626-13883629
17 MC2R NM_000529.2(MC2R):c.*963_*968deldeletion Uncertain significance 326167 rs886053641 18:13883656-13883661 18:13883657-13883662
18 MC2R NM_000529.2(MC2R):c.*401deldeletion Uncertain significance 326184 rs886053648 18:13884223-13884223 18:13884224-13884224
19 MC2R NM_000529.2(MC2R):c.*1973dupduplication Uncertain significance 326129 rs145881301 18:13882650-13882651 18:13882651-13882652
20 MC2R NM_000529.2(MC2R):c.*1047_*1048dupGTshort repeat Uncertain significance 326150 rs67239935 18:13883575-13883576 18:13883576-13883577
21 MC2R NM_000529.2(MC2R):c.*994_*1003deldeletion Uncertain significance 326159 rs797017143 18:13883621-13883630 18:13883622-13883631
22 MC2R NM_000529.2(MC2R):c.*994_*999deldeletion Uncertain significance 326162 rs886053638 18:13883625-13883630 18:13883626-13883631
23 MC2R NM_000529.2(MC2R):c.*997_*998insAGTGinsertion Uncertain significance 326163 rs886053639 18:13883626-13883627 18:13883627-13883628
24 MC2R NM_000529.2(MC2R):c.*996_*997delAGshort repeat Uncertain significance 326165 rs10582120 18:13883627-13883628 18:13883628-13883629
25 MC2R NM_000529.2(MC2R):c.*955_*956dupGAshort repeat Uncertain significance 326168 rs886053642 18:13883667-13883668 18:13883668-13883669
26 MRAP NM_206898.1(MRAP):c.-40_-39AG[3]short repeat Uncertain significance 339674 rs749127883 21:33665414-33665415 21:32293103-32293104
27 MC2R NM_000529.2(MC2R):c.*1943_*1944delTGshort repeat Uncertain significance 326130 rs886053620 18:13882680-13882681 18:13882681-13882682
28 MC2R NM_000529.2(MC2R):c.*998_*1008delinsAindel Uncertain significance 326157 rs886053634 18:13883616-13883626 18:13883617-13883627
29 MC2R NM_000529.2(MC2R):c.*1566G>TSNV Uncertain significance 326139 rs150610014 18:13883058-13883058 18:13883059-13883059
30 MC2R NM_000529.2(MC2R):c.*1045_*1048delGTGTshort repeat Uncertain significance 326153 rs67239935 18:13883576-13883579 18:13883577-13883580
31 MC2R NM_000529.2(MC2R):c.*1043_*1048delGTGTGTshort repeat Uncertain significance 326154 rs67239935 18:13883576-13883581 18:13883577-13883582
32 MC2R NM_000529.2(MC2R):c.*998_*1006delinsAGAGAindel Uncertain significance 326158 rs886053635 18:13883618-13883626 18:13883619-13883627
33 MC2R NM_000529.2(MC2R):c.765G>A (p.Met255Ile)SNV Uncertain significance 326193 rs181640454 18:13884753-13884753 18:13884754-13884754
34 MC2R NM_001291911.1(MC2R):c.-129+92T>CSNV Likely benign 369249 rs79533878 18:13915537-13915537 18:13915538-13915538
35 MC2R NM_001291911.1(MC2R):c.-129+87C>TSNV Likely benign 369250 rs2186944 18:13915542-13915542 18:13915543-13915543
36 MC2R NM_000529.2(MC2R):c.80C>G (p.Pro27Arg)SNV Likely benign 492864 rs28926178 18:13885438-13885438 18:13885439-13885439
37 MC2R NM_000529.2(MC2R):c.*2427deldeletion Likely benign 326124 rs147105346 18:13882197-13882197 18:13882198-13882198

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
12.27 STAR POMC NR0B1 MRAP MC2R MC1R
2
Show member pathways
11.51 POMC MC2R CYP11A1
3 11.47 STAR POMC CYP11A1
4
Show member pathways
11.38 STAR POMC CYP11A1
5 11.26 POMC MC5R MC4R MC3R MC2R MC1R
6 10.97 MCM5 MCM4 MCM2
7 10.73 POMC MC4R
8 10.63 POMC MC4R

GO Terms for Familial Glucocorticoid Deficiency

Cellular components related to Familial Glucocorticoid Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.03 VN1R4 REN NR0B1 NNT MRAP2 MRAP
2 nuclear chromosome, telomeric region GO:0000784 9.13 MCM5 MCM4 MCM2
3 MCM complex GO:0042555 8.8 MCM5 MCM4 MCM2

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

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 G protein-coupled receptor signaling pathway GO:0007186 10.05 VN1R4 POMC MC5R MC4R MC3R MC2R
2 male gonad development GO:0008584 9.77 STAR REN NR0B1
3 G1/S transition of mitotic cell cycle GO:0000082 9.75 MCM5 MCM4 MCM2
4 DNA duplex unwinding GO:0032508 9.71 MCM5 MCM4 MCM2
5 steroid biosynthetic process GO:0006694 9.7 STAR NR0B1 CYP11A1
6 regulation of blood pressure GO:0008217 9.67 REN POMC MC3R
7 G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger GO:0007187 9.62 MC5R MC3R MC2R MC1R
8 response to immobilization stress GO:0035902 9.61 REN NR0B1
9 negative regulation of protein localization to plasma membrane GO:1903077 9.6 MRAP2 MRAP
10 DNA unwinding involved in DNA replication GO:0006268 9.58 MCM4 MCM2
11 DNA replication initiation GO:0006270 9.58 MCM5 MCM4 MCM2
12 energy reserve metabolic process GO:0006112 9.57 MRAP2 MC4R
13 regulation of feeding behavior GO:0060259 9.56 MC4R MC3R
14 C21-steroid hormone biosynthetic process GO:0006700 9.55 STAR CYP11A1
15 negative regulation of adenylate cyclase-activating G protein-coupled receptor signaling pathway GO:0106072 9.48 MRAP2 MRAP
16 mitotic DNA replication initiation GO:1902975 9.46 MCM4 MCM2
17 positive regulation of adenylate cyclase-activating G protein-coupled receptor signaling pathway GO:0106071 9.43 MRAP2 MRAP
18 double-strand break repair via break-induced replication GO:0000727 9.43 MCM5 MCM4 MCM2
19 regulation of adenylate cyclase-activating G protein-coupled receptor signaling pathway GO:0106070 9.37 MRAP2 MRAP
20 adenylate cyclase-activating G protein-coupled receptor signaling pathway GO:0007189 9.35 MC5R MC4R MC3R MC2R MC1R
21 pre-replicative complex assembly involved in nuclear cell cycle DNA replication GO:0006267 9.33 MCM5 MCM4 MCM2
22 regulation of metabolic process GO:0019222 9.02 MC5R MC4R MC3R MC2R MC1R

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 G protein-coupled receptor activity GO:0004930 9.97 VN1R4 MC5R MC4R MC3R MC2R MC1R
2 helicase activity GO:0004386 9.73 MCM5 MCM4 MCM2
3 single-stranded DNA binding GO:0003697 9.71 MCM5 MCM4 MCM2
4 DNA helicase activity GO:0003678 9.65 MCM5 MCM4 MCM2
5 neuropeptide binding GO:0042923 9.55 MC4R MC3R
6 DNA replication origin binding GO:0003688 9.54 MCM5 MCM4 MCM2
7 hormone binding GO:0042562 9.52 MC5R MC4R
8 3'-5' DNA helicase activity GO:0043138 9.51 MCM5 MCM2
9 type 1 melanocortin receptor binding GO:0070996 9.5 POMC MRAP2 MRAP
10 type 5 melanocortin receptor binding GO:0031783 9.46 MRAP2 MRAP
11 corticotropin hormone receptor binding GO:0031780 9.43 MRAP2 MRAP
12 type 4 melanocortin receptor binding GO:0031782 9.43 POMC MRAP2 MRAP
13 receptor regulator activity GO:0030545 9.4 MRAP2 MRAP
14 type 3 melanocortin receptor binding GO:0031781 9.33 POMC MRAP2 MRAP
15 melanocyte-stimulating hormone receptor activity GO:0004980 9.13 MC4R MC3R MC1R
16 melanocortin receptor activity GO:0004977 9.02 MC5R MC4R MC3R MC2R MC1R

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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