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MCID: FML063
MIFTS: 57

Familial Glucocorticoid Deficiency

Categories: Endocrine diseases, Genetic diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Familial Glucocorticoid Deficiency

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MalaCards integrated aliases for Familial Glucocorticoid Deficiency:

Name: Familial Glucocorticoid Deficiency 11 19 42 58 14
Glucocorticoid Deficiency 42 5 71
Acth Resistance 19 42
Hereditary Unresponsiveness to Adrenocorticotropic Hormone 42
Glucocorticoid Deficiency, Familial 75
Isolated Glucocorticoid Deficiency 42
Adrenal Unresponsiveness to Acth 42
Glucocorticoid Deficiency 1 71

Characteristics:


Inheritance:

Autosomal recessive 58

Prevelance:

1-9/1000000 (Ireland) 58

Age Of Onset:

Childhood,Infancy 58

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases
Anatomical: Neuronal diseases Endocrine diseases
See all MalaCards categories (disease lists)
ICD10: 32
Orphanet: 58  
Rare neurological diseases
Rare endocrine diseases


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Summaries for Familial Glucocorticoid Deficiency

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MedlinePlus Genetics: 42 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.

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 GPCR downstream signalling and Diseases of glycosylation. The drugs Dexamethasone acetate and Dexamethasone 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

GARD: 19 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.

Orphanet: 58 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.

Disease Ontology: 11 An adrenal cortex disease that is characterized by insufficent production of glucocorticoids.

Wikipedia: 75 Glucocorticoid deficiency 1 is an adrenocortical failure characterized by low levels of plasma cortisol... more...
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Related Diseases for Familial Glucocorticoid Deficiency

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

(show top 50) (show all 158)
# Related Disease Score Top Affiliating Genes
1 glucocorticoid deficiency 1 33.0 POMC MRAP MC2R
2 achalasia-addisonianism-alacrima syndrome 30.4 TXNRD2 POMC NR0B1 NNT MRAP MC2R
3 pituitary-dependent cushing's disease 30.3 POMC MC2R
4 acute adrenal insufficiency 30.3 POMC CYP21A2 CYP11A1
5 hypoadrenocorticism, familial 30.2 STAR POMC NR0B1 MC2R CYP21A2 CYP11A1
6 lipoid congenital adrenal hyperplasia 30.0 STAR POMC NR0B1 MRAP MC2R CYP21A2
7 adrenal hypoplasia, congenital 30.0 STAR POMC NR0B1 MC2R CYP21A2 CYP11A1
8 conn's syndrome 29.8 STAR POMC NR0B1 MC2R CYP21A2 CYP11B1
9 glucocorticoid deficiency 2 11.7
10 glucocorticoid deficiency 4 with or without mineralocorticoid deficiency 11.6
11 glucocorticoid deficiency 3 11.5
12 glucocorticoid deficiency 5 11.3
13 adrenocortical unresponsiveness to acth with postreceptor defect 11.2
14 adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency 11.2
15 disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency 11.2
16 adrenal hyperplasia, congenital, due to steroid 11-beta-hydroxylase deficiency 11.0
17 hypoglycemia 10.5
18 waterhouse-friderichsen syndrome 10.4 POMC MC2R
19 schizophrenia 14 10.3 STAR POMC
20 corticosteroid-binding globulin deficiency 10.3 POMC MC2R
21 toe syndactyly, telecanthus, and anogenital and renal malformations 10.3
22 premature ovarian failure 7 10.3
23 acth-independent macronodular adrenal hyperplasia 10.3 POMC MC2R CYP11B1
24 17-beta hydroxysteroid dehydrogenase iii deficiency 10.3 POMC NR0B1 CYP11A1
25 primary pigmented nodular adrenocortical disease 10.3 POMC MC2R CYP11B1
26 hypoactive sexual desire disorder 10.3 MC5R MC4R MC3R
27 cytochrome p450 oxidoreductase deficiency 10.3 CYP21A2 CYP11B1
28 antley-bixler syndrome 10.3 POMC CYP21A2 CYP11A1
29 carney complex variant 10.3 POMC MC2R CYP11B1
30 leydig cell tumor 10.3 STAR CYP21A2 CYP11A1
31 luteoma 10.3 STAR CYP21A2
32 cortisone reductase deficiency 10.3 POMC CYP21A2 CYP11B1
33 leydig cell hypoplasia 10.3 STAR CYP11A1
34 mixed gonadal dysgenesis 10.2 NR0B1 CYP21A2
35 acne 10.2 POMC MC5R CYP21A2
36 achalasia 10.2
37 graves disease 1 10.2 TXNRD2 POMC
38 hyperaldosteronism, familial, type i 10.2 POMC MC2R CYP21A2 CYP11B1
39 autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia 10.2 CYP21A2 CYP11A1
40 polycystic ovary syndrome 10.2 STAR POMC CYP21A2 CYP11A1
41 hyperandrogenism 10.2 POMC MC4R CYP21A2 CYP11A1
42 asperger syndrome 10.2 CYP21A2 CYP11B1 CYP11A1
43 hypogonadotropic hypogonadism 10.2 STAR POMC NR0B1 CYP21A2
44 lipid metabolism disorder 10.2 STAR POMC CYP21A2 CYP11B1
45 adrenal rest tumor 10.2 POMC MC2R CYP21A2 CYP11B1 CYP11A1
46 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies 10.2 TXNRD2 NR0B1 NNT MCM4 MC2R CYP11A1
47 adrenal cortical adenoma 10.2 POMC MC2R CYP21A2 CYP11B1 CYP11A1
48 cryptorchidism, unilateral or bilateral 10.2 STAR POMC NR0B1 CYP21A2 CYP11A1
49 adrenal adenoma 10.2 POMC MC2R CYP21A2 CYP11B1 CYP11A1
50 adrenal cortical hypofunction 10.1 STAR POMC NR0B1 MC2R CYP21A2 CYP11A1

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



Diseases related to Familial Glucocorticoid Deficiency
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Symptoms & Phenotypes for Familial Glucocorticoid Deficiency

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Human phenotypes related to Familial Glucocorticoid Deficiency:

58 30 (show all 38)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 decreased circulating cortisol level 58 30 Obligate (100%) Obligate (100%)
 HP:0008163
2 failure to thrive 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0001508
3 hypotension 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0002615
4 generalized hyperpigmentation 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0007440
5 ketotic hypoglycemia 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0012734
6 impaired cortisol response to insulin stimulation test 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0031076
7 decreased circulating dehydroepiandrosterone concentration 30 Hallmark (90%) HP:0031214
8 abnormal circulating adrenocorticotropin concentration 30 Hallmark (90%) HP:0011043
9 constipation 58 30 Frequent (33%) Frequent (79-30%)
 HP:0002019
10 vomiting 58 30 Frequent (33%) Frequent (79-30%)
 HP:0002013
11 anorexia 58 30 Frequent (33%) Frequent (79-30%)
 HP:0002039
12 chronic fatigue 58 30 Frequent (33%) Frequent (79-30%)
 HP:0012432
13 hyponatremia 58 30 Frequent (33%) Frequent (79-30%)
 HP:0002902
14 weight loss 58 30 Frequent (33%) Frequent (79-30%)
 HP:0001824
15 hyperkalemia 58 30 Frequent (33%) Frequent (79-30%)
 HP:0002153
16 diarrhea 58 30 Frequent (33%) Frequent (79-30%)
 HP:0002014
17 episodic abdominal pain 58 30 Frequent (33%) Frequent (79-30%)
 HP:0002574
18 renal salt wasting 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000127
19 hypernatriuria 58 30 Frequent (33%) Frequent (79-30%)
 HP:0012605
20 hypoglycemic seizures 58 30 Frequent (33%) Frequent (79-30%)
 HP:0002173
21 precocious puberty 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0000826
22 cryptorchidism 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0000028
23 tall stature 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0000098
24 decreased circulating aldosterone level 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0004319
25 testicular adrenal rest tumor 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0025451
26 intellectual disability 58 30 Very rare (1%) Very rare (<4-1%)
 HP:0001249
27 tetraplegia 58 30 Very rare (1%) Very rare (<4-1%)
 HP:0002445
28 hypertrophic cardiomyopathy 58 30 Very rare (1%) Very rare (<4-1%)
 HP:0001639
29 azoospermia 58 30 Very rare (1%) Very rare (<4-1%)
 HP:0000027
30 recurrent urinary tract infections 58 30 Very rare (1%) Very rare (<4-1%)
 HP:0000010
31 congenital hypothyroidism 58 30 Very rare (1%) Very rare (<4-1%)
 HP:0000851
32 leydig cell neoplasia 58 30 Very rare (1%) Very rare (<4-1%)
 HP:0100618
33 hypoglycemic coma 58 30 Very rare (1%) Very rare (<4-1%)
 HP:0001325
34 autoimmunity 58 Excluded (0%)
35 recurrent infections 58 Frequent (79-30%)
36 adrenal insufficiency 58 Obligate (100%)
37 abnormality of circulating adrenocorticotropin level 58 Very frequent (99-80%)
38 decreased circulating dehydroepiandrosterone level 58 Very frequent (99-80%)

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.11 AAAS CYP11A1 CYP11B1 CYP21A2 FGD1 MC1R
2 no effect GR00402-S-2 10.11 AAAS CYP11A1 CYP11B1 CYP21A2 MCM4 MCM5
3 Reduced mammosphere formation GR00396-S 9.61 CYP11B1 CYP21A2 MC2R MC4R MC5R MCM5

MGI Mouse Phenotypes related to Familial Glucocorticoid Deficiency:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.13 AAAS CYP11A1 CYP11B1 FGD1 MC2R MC3R
2 growth/size/body region MP:0005378 10 AAAS CYP11A1 CYP11B1 CYP21A2 FGD1 MC1R
3 liver/biliary system MP:0005370 9.87 CYP11A1 CYP11B1 MC4R MRAP MRAP2 POMC
4 endocrine/exocrine gland MP:0005379 9.77 AAAS CYP11A1 CYP11B1 FGD1 MC2R MC3R
5 behavior/neurological MP:0005386 9.47 AAAS CYP11A1 CYP11B1 CYP21A2 MC1R MC2R
Sources

Drugs & Therapeutics for Familial Glucocorticoid Deficiency

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

(show all 20)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 2 1177-87-3 3680
2
Dexamethasone Approved, Investigational, Vet_approved Phase 2 50-02-2 3003 5743
3 glucocorticoids Phase 2
4 Antineoplastic Agents, Hormonal Phase 2
5 Hormones Phase 2
6 Hormone Antagonists Phase 2
7 Antiemetics Phase 2
8 Anti-Inflammatory Agents Phase 2
9 Gastrointestinal Agents Phase 2
10
Nicotinamide Approved, Investigational 98-92-0 936
11
Ascorbic acid Approved, Nutraceutical 50-81-7 54676860 54670067 5785
12
Niacin Approved, Investigational, Nutraceutical 59-67-6 938
13 Vitamins
14 Vitamin B3
15 Trace Elements
16 Nicotinic Acids
17 Antioxidants
18 Micronutrients
19 Protective Agents
20 Mineralocorticoids

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Developmental Clinical Studies - Reversing Endometrial Glucocorticoid Deficiency in Heavy Menstrual Bleeding Completed NCT01769820 Phase 2 Dexamethasone;placebo
2 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

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Genetic Tests for Familial Glucocorticoid Deficiency

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Anatomical Context for Familial Glucocorticoid Deficiency

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Organs/tissues related to Familial Glucocorticoid Deficiency:

MalaCards : Adrenal Gland, Adrenal Cortex, Cortex, Kidney, Brain, Skin, Pituitary
Sources

Publications for Familial Glucocorticoid Deficiency

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Articles related to Familial Glucocorticoid Deficiency:

(show top 50) (show all 519)
# Title Authors PMID Year
1
Addison's disease without hyperpigmentation in pediatrics: pointing towards specific causes. 62
36348260 2022
2
Evaluation of a machine learning tool to screen for hypoadrenocorticism in dogs presenting to a teaching hospital. 62
36259689 2022
3
Growth alterations in rare forms of primary adrenal insufficiency: a neglected issue in paediatric endocrinology. 62
36309634 2022
4
Congenital lipoid adrenal hyperplasia with Graves' disease: A case report. 62
36159444 2022
5
Primary adrenal insufficiency in a patient with biallelic QRSL1 mutations. 62
35894854 2022
6
Novel non-stop variant of the NR0B1 gene in two siblings with adrenal hypoplasia congenita. 62
35848959 2022
7
A retrospective analysis of endocrine disease in sphingosine-1-phosphate lyase insufficiency: case series and literature review. 62
35904228 2022
8
A Novel Homozygous MC2R Variant Leading to Type-1 Familial Glucocorticoid Deficiency. 62
35506146 2022
9
Analysis of a pitfall in congenital adrenal hyperplasia newborn screening: evidence of maternal use of corticoids detected on dried blood spot. 62
35521805 2022
10
50 Years Ago in TheJournalofPediatrics: Isolated Cortisol Deficiency due to ACTH Resistance: An Early Description of Familial Glucocorticoid Deficiency. 62
35534171 2022
11
Long-Term Follow-Up of Three Family Members with a Novel NNT Pathogenic Variant Causing Primary Adrenal Insufficiency. 62
35627102 2022
12
Bones and adrenal organogenesis: how embryonic osteocalcin influences lifelong adrenal function. 62
35166237 2022
13
Can Digenic, Tri-Allelic Inheritance of Variants in STAR and CYP11A1 Give Rise to Primary Adrenal Insufficiency? A Case Report. 62
35418949 2022
14
Clinical characteristics of a male child with non-classic lipoid congenital adrenal hyperplasia and literature review. 62
36407315 2022
15
Novel Melano-Cortin-2-Receptor Gene Mutation Presenting With Infantile Cholestasis: A Case Report. 62
35418791 2022
16
A rare and preventable aetiology of neurodevelopmental delay and epilepsy: familial glucocorticoid deficiency. 62
34271604 2021
17
Misfolded G Protein-Coupled Receptors and Endocrine Disease. Molecular Mechanisms and Therapeutic Prospects. 62
34830210 2021
18
Class B Scavenger Receptors BI and BII Protect against LPS-Induced Acute Lung Injury in Mice by Mediating LPS. 62
34097506 2021
19
Hormone resistance in children: what primary care physicians need to know. 62
34487068 2021
20
Severe Posaconazole-Induced Glucocorticoid Deficiency with Concurrent Pseudohyperaldosteronism: An Unfortunate Two-for-One Special. 62
34436160 2021
21
Low dose dexamethasone as treatment for women with heavy menstrual bleeding: A response-adaptive randomised placebo-controlled dose-finding parallel group trial (DexFEM). 62
34218053 2021
22
A Chinese child with hyperpigmentation diagnosed with familial glucocorticoid deficiency type 1 using whole-exome sequencing. 62
33342750 2021
23
Triple A (Allgrove) syndrome due to AAAS gene mutation with a rare association of amyotrophy. 62
32700293 2021
24
Primary Adrenal Insufficiency in Childhood: Data From a Large Nationwide Cohort. 62
33247909 2021
25
Pediatric Primary Adrenal Insufficiency: A 21-year Single Center Experience 62
32938577 2021
26
Clinical and molecular characterization of thirty Chinese patients with congenital lipoid adrenal hyperplasia. 62
33227378 2021
27
Venoarterial extracorporeal membrane oxygenation as bridge to effective treatment in a 19-year-old woman with acute adrenal crisis: a case report. 62
33644667 2021
28
Case Report: Neonatal Cholestasis as Early Manifestation of Primary Adrenal Insufficiency. 62
34858908 2021
29
Masked type 1 diabetes mellitus (T1DM) unveiled by glucocorticoid replacement: a case of simultaneous development of T1DM and hypophysitis in an elderly woman. 62
32669510 2020
30
Emerging roles of melanocortin receptor accessory proteins (MRAP and MRAP2) in physiology and pathophysiology. 62
32679290 2020
31
STAR mutations causing non‑classical lipoid adrenal hyperplasia manifested as familial glucocorticoid deficiency. 62
32627004 2020
32
Identification of scavenger receptor BI as a potential screening candidate for congenital primary adrenal insufficiency in humans. 62
32369415 2020
33
The management of glucocorticoid deficiency: Current and future perspectives. 62
32145273 2020
34
[Modified-release hydrocortisone for glucocorticoid deficiency]. 62
32394073 2020
35
Glucocorticoids Reverse Diluted Hyponatremia Through Inhibiting Arginine Vasopressin Pathway in Heart Failure Rats. 62
32390535 2020
36
GDF15 Is Elevated in Conditions of Glucocorticoid Deficiency and Is Modulated by Glucocorticoid Replacement. 62
31853550 2020
37
Glucocorticoid replacement regimens for treating congenital adrenal hyperplasia. 62
32190901 2020
38
Primary Adrenocortical Insufficiency Case Series in the Neonatal Period: Genetic Etiologies Are More Common Than Expected. 62
32903448 2020
39
Tyrosine Kinase Inhibitors' Newly Reported Endocrine Side Effect: Pazopanib-Induced Primary Adrenal Insufficiency in a Patient With Metastatic Renal Cell Cancer. 62
32583692 2020
40
The Genetic Perspective of Familial Glucocorticoid Deficiency: In Silico Analysis of Two Novel Variants. 62
32952553 2020
41
Rare Bilateral Adrenal Haemorrhage with Addisonian Crisis: When Risk Factors Come in Droves. 62
32832170 2020
42
Current Insights Into Adrenal Insufficiency in the Newborn and Young Infant. 62
33381483 2020
43
Hypophysitis: An update on the novel forms, diagnosis and management of disorders of pituitary inflammation. 62
31866206 2019
44
CLINICAL COURSE OF A UNIQUE CASE OF ALLGROVE SYNDROME AND CHALLENGES OF HYPOGLYCEMIA MANAGEMENT. 62
31967070 2019
45
Familial hypogammaglobulinemia with high RTE and naïve T lymphocytes. 62
31468084 2019
46
ELECTROCARDIOGRAM CHANGES IN ADDISON DISEASE: POTENTIAL CLINICAL MARKER FOR ADRENAL CRISIS. 62
31967059 2019
47
Familial glucocorticoid deficiency presenting with hyperpigmentation, gigantism, and motor development delay: a case report. 62
31481085 2019
48
Structure and mechanism of mitochondrial proton-translocating transhydrogenase. 62
31462775 2019
49
The incidence of adrenal crisis in the postoperative period of HPA axis insufficiency after surgical treatment for Cushing's syndrome. 62
31167165 2019
50
Management of congenital adrenal hyperplasia: beyond conventional glucocorticoid therapy. 62
31295195 2019
Sources

Variations for Familial Glucocorticoid Deficiency

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ClinVar genetic disease variations for Familial Glucocorticoid Deficiency:

5 (show all 37)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MC2R NM_000529.2(MC2R):c.433C>T (p.Arg145Cys) SNV Pathogenic
 492866 rs139218324 GRCh37: 18:13885085-13885085
GRCh38: 18:13885086-13885086
2 MC2R NM_000529.2(MC2R):c.221G>T (p.Ser74Ile) SNV Pathogenic
 3258 rs104894658 GRCh37: 18:13885297-13885297
GRCh38: 18:13885298-13885298
3 MC2R NM_000529.2(MC2R):c.560del (p.Val187fs) DEL Pathogenic
 492868 rs1555619406 GRCh37: 18:13884958-13884958
GRCh38: 18:13884959-13884959
4 MC2R NM_000529.2(MC2R):c.573C>A (p.Cys191Ter) SNV Pathogenic
 492869 rs762692123 GRCh37: 18:13884945-13884945
GRCh38: 18:13884946-13884946
5 MC2R NM_000529.2(MC2R):c.459dup (p.Ile154fs) DUP Pathogenic
 444065 rs1555619430 GRCh37: 18:13885058-13885059
GRCh38: 18:13885059-13885060
6 MC2R NM_000529.2(MC2R):c.634del (p.Arg212fs) DEL Pathogenic
 492870 rs1226345778 GRCh37: 18:13884884-13884884
GRCh38: 18:13884885-13884885
7 MC2R NM_000529.2(MC2R):c.410G>C (p.Arg137Pro) SNV Pathogenic
 492865 rs1208417750 GRCh37: 18:13885108-13885108
GRCh38: 18:13885109-13885109
8 MC2R NM_000529.2(MC2R):c.409C>T (p.Arg137Trp) SNV Pathogenic
 3265 rs104894660 GRCh37: 18:13885109-13885109
GRCh38: 18:13885110-13885110
9 MC2R NM_000529.2(MC2R):c.465G>C (p.Trp155Cys) SNV Likely Pathogenic
 492867 rs1555619429 GRCh37: 18:13885053-13885053
GRCh38: 18:13885054-13885054
10 MC2R NM_000529.2(MC2R):c.*996_*999del DEL Uncertain Significance
 326161 rs886053637 GRCh37: 18:13883625-13883628
GRCh38: 18:13883626-13883629
11 MC2R NM_000529.2(MC2R):c.*998_*1006delinsAGAGA INDEL Uncertain Significance
 326158 rs886053635 GRCh37: 18:13883618-13883626
GRCh38: 18:13883619-13883627
12 MC2R NM_000529.2(MC2R):c.*401del DEL Uncertain Significance
 326184 rs886053648 GRCh37: 18:13884223-13884223
GRCh38: 18:13884224-13884224
13 MC2R NM_000529.2(MC2R):c.318C>T (p.Ile106=) SNV Uncertain Significance
 80762 rs147706299 GRCh37: 18:13885200-13885200
GRCh38: 18:13885201-13885201
14 MC2R NM_000529.2(MC2R):c.80C>G (p.Pro27Arg) SNV Uncertain Significance
 492864 rs28926178 GRCh37: 18:13885438-13885438
GRCh38: 18:13885439-13885439
15 MC2R NM_000529.2(MC2R):c.*963_*968del DEL Uncertain Significance
 326167 rs886053641 GRCh37: 18:13883656-13883661
GRCh38: 18:13883657-13883662
16 MC2R NM_000529.2(MC2R):c.*997GT[24] MICROSAT Uncertain Significance
 326153 rs67239935 GRCh37: 18:13883576-13883579
GRCh38: 18:13883577-13883580
17 MC2R NM_000529.2(MC2R):c.*997GT[27] MICROSAT Uncertain Significance
 326150 rs67239935 GRCh37: 18:13883575-13883576
GRCh38: 18:13883576-13883577
18 MC2R NM_000529.2(MC2R):c.765G>A (p.Met255Ile) SNV Uncertain Significance
 326193 rs181640454 GRCh37: 18:13884753-13884753
GRCh38: 18:13884754-13884754
19 MC2R NM_000529.2(MC2R):c.*1941TG[1] MICROSAT Uncertain Significance
 326130 rs886053620 GRCh37: 18:13882680-13882681
GRCh38: 18:13882681-13882682
20 MC2R NM_000529.2(MC2R):c.*1566G>T SNV Uncertain Significance
 326139 rs150610014 GRCh37: 18:13883058-13883058
GRCh38: 18:13883059-13883059
21 MC2R NM_000529.2(MC2R):c.*994_*999del DEL Uncertain Significance
 326162 rs886053638 GRCh37: 18:13883625-13883630
GRCh38: 18:13883626-13883631
22 MC2R NM_000529.2(MC2R):c.*994_*1003del DEL Uncertain Significance
 326159 rs797017143 GRCh37: 18:13883621-13883630
GRCh38: 18:13883622-13883631
23 MC2R NM_000529.2(MC2R):c.*1390G>A SNV Uncertain Significance
 326142 rs886053622 GRCh37: 18:13883234-13883234
GRCh38: 18:13883235-13883235
24 MC2R NM_000529.2(MC2R):c.*947GA[6] MICROSAT Uncertain Significance
 326168 rs886053642 GRCh37: 18:13883667-13883668
GRCh38: 18:13883668-13883669
25 MC2R NM_000529.2(MC2R):c.*997GT[28] MICROSAT Uncertain Significance
 326151 rs67239935 GRCh37: 18:13883575-13883576
GRCh38: 18:13883576-13883577
26 MC2R NM_000529.2(MC2R):c.*968AG[14] MICROSAT Uncertain Significance
 326165 rs10582120 GRCh37: 18:13883627-13883628
GRCh38: 18:13883628-13883629
27 MC2R NM_000529.2(MC2R):c.*1049_*1050del DEL Uncertain Significance
 326148 rs886053626 GRCh37: 18:13883574-13883575
GRCh38: 18:13883575-13883576
28 MC2R NM_000529.2(MC2R):c.*997GT[23] MICROSAT Uncertain Significance
 326154 rs67239935 GRCh37: 18:13883576-13883581
GRCh38: 18:13883577-13883582
29 MC2R NM_000529.2(MC2R):c.*998_*1008delinsA INDEL Uncertain Significance
 326157 rs886053634 GRCh37: 18:13883616-13883626
GRCh38: 18:13883617-13883627
30 MC2R NM_000529.2(MC2R):c.*997_*998insAGTG INSERT Uncertain Significance
 326163 rs886053639 GRCh37: 18:13883626-13883627
GRCh38: 18:13883627-13883628
31 MC2R NM_000529.2(MC2R):c.*997GT[25] MICROSAT Uncertain Significance
 326152 rs67239935 GRCh37: 18:13883576-13883577
GRCh38: 18:13883577-13883578
32 MC2R NM_000529.2(MC2R):c.*1045_*1050del DEL Uncertain Significance
 326149 rs886053627 GRCh37: 18:13883574-13883579
GRCh38: 18:13883575-13883580
33 MC2R NM_000529.2(MC2R):c.*1973dup DUP Uncertain Significance
 326129 rs145881301 GRCh37: 18:13882650-13882651
GRCh38: 18:13882651-13882652
34 MRAP NM_178817.4(MRAP):c.-40AG[3] MICROSAT Uncertain Significance
 339674 rs749127883 GRCh37: 21:33665414-33665415
GRCh38: 21:32293103-32293104
35 MC2R NM_001291911.1(MC2R):c.-129+87C>T SNV Likely Benign
 369250 rs2186944 GRCh37: 18:13915542-13915542
GRCh38: 18:13915543-13915543
36 MC2R NM_000529.2(MC2R):c.*2427del DEL Likely Benign
 326124 rs147105346 GRCh37: 18:13882197-13882197
GRCh38: 18:13882198-13882198
37 MC2R NM_001291911.1(MC2R):c.-129+92T>C SNV Likely Benign
 369249 rs79533878 GRCh37: 18:13915537-13915537
GRCh38: 18:13915538-13915538
Sources

Expression for Familial Glucocorticoid Deficiency

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

Pathways for Familial Glucocorticoid Deficiency

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

# Super pathways Score Top Affiliating Genes
1
GPCR downstream signalling 66
Show member pathways
 13.3 POMC MC5R MC4R MC3R MC2R MC1R
2
Diseases of glycosylation 66
Show member pathways
 12.41 POMC MC2R CYP21A2 CYP11B1 CYP11A1
3
Metabolism of steroids 66
Show member pathways
 12.28 CYP11A1 CYP11B1 CYP21A2 POMC STAR
4
Metabolism of steroid hormones 66
Show member pathways
 11.54 STAR POMC CYP21A2 CYP11B1 CYP11A1
5
Corticotropin-releasing hormone signaling pathway 74
11.31 STAR POMC CYP21A2 CYP11B1 CYP11A1
6
G alpha (s) signalling events 66
Show member pathways
 11.3 POMC MC5R MC4R MC3R MC2R MC1R
7
Metabolic disorders of biological oxidation enzymes 66
10.96 CYP21A2 CYP11B1 CYP11A1
8
Syndecan-3-mediated signaling events 61
10.76 POMC MC4R
9
Antipsychotics Pathway (Metabolic Side Effects), Pharmacodynamics 60
10.73 POMC MC4R
10
Alternative pathway of fetal androgen synthesis 74
10.45 STAR CYP11A1
Sources

GO Terms for Familial Glucocorticoid Deficiency

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

# Name GO ID Score Top Affiliating Genes
1 CMG complex GO:0071162 9.26 MCM5 MCM4
2 MCM complex GO:0042555 8.92 MCM5 MCM4

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 regulation of blood pressure GO:0008217 10.03 POMC MC3R CYP11B1
2 G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger GO:0007187 9.97 MC1R MC2R MC3R MC5R
3 adenylate cyclase-activating G protein-coupled receptor signaling pathway GO:0007189 9.96 MC5R MC4R MC3R MC2R MC1R
4 sterol metabolic process GO:0016125 9.88 CYP21A2 CYP11B1 CYP11A1
5 regulation of DNA-templated DNA replication initiation GO:0030174 9.85 MCM5 MCM4
6 double-strand break repair via break-induced replication GO:0000727 9.84 MCM5 MCM4
7 negative regulation of adenylate cyclase-activating G protein-coupled receptor signaling pathway GO:0106072 9.83 MRAP2 MRAP
8 C21-steroid hormone biosynthetic process GO:0006700 9.81 CYP11B1 CYP11A1
9 cortisol metabolic process GO:0034650 9.8 CYP11A1 CYP11B1
10 positive regulation of adenylate cyclase-activating G protein-coupled receptor signaling pathway GO:0106071 9.78 MRAP MRAP2
11 response to melanocyte-stimulating hormone GO:1990680 9.76 POMC MC4R
12 regulation of adenylate cyclase-activating G protein-coupled receptor signaling pathway GO:0106070 9.73 MRAP2 MRAP
13 steroid biosynthetic process GO:0006694 9.63 STAR CYP21A2 CYP11B1 CYP11A1
14 regulation of feeding behavior GO:0060259 9.62 MC4R MC3R MC1R
15 glucocorticoid biosynthetic process GO:0006704 9.43 CYP21A2 CYP11B1 CYP11A1
16 regulation of metabolic process GO:0019222 9.32 MC5R MC4R MC3R MC2R MC1R

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.91 TXNRD2 NNT CYP21A2 CYP11B1 CYP11A1
2 type 3 melanocortin receptor binding GO:0031781 9.8 MRAP MRAP2 POMC
3 hormone binding GO:0042562 9.77 MC5R MC4R MC1R
4 signaling receptor regulator activity GO:0030545 9.76 MRAP2 MRAP
5 type 5 melanocortin receptor binding GO:0031783 9.73 MRAP2 MRAP
6 type 4 melanocortin receptor binding GO:0031782 9.73 MRAP MRAP2 POMC
7 corticotropin hormone receptor binding GO:0031780 9.71 MRAP2 MRAP
8 monooxygenase activity GO:0004497 9.67 CYP21A2 CYP11B1 CYP11A1
9 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen GO:0016705 9.65 CYP21A2 CYP11B1 CYP11A1
10 type 1 melanocortin receptor binding GO:0070996 9.63 MRAP MRAP2 POMC
11 melanocyte-stimulating hormone receptor activity GO:0004980 9.43 MC4R MC3R MC1R
12 melanocortin receptor activity GO:0004977 9.32 MC5R MC4R MC3R MC2R MC1R
Sources

Sources for Familial Glucocorticoid Deficiency

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2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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