GCCD1
MCID: GLC042
MIFTS: 51

Glucocorticoid Deficiency 1 (GCCD1)

Categories: Endocrine diseases, Genetic diseases
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Aliases & Classifications for Glucocorticoid Deficiency 1

MalaCards integrated aliases for Glucocorticoid Deficiency 1:

Name: Glucocorticoid Deficiency 1 57 11 73 28 5 14 71 75
Acth Resistance 57 75 73 53
Glucocorticoid Deficiency, Due to Acth Unresponsiveness 57 12 38
Familial Glucocorticoid Deficiency 1 57 73
Adrenal Unresponsiveness to Acth 57 73
Gccd1 57 73
Fgd1 57 73
Hereditary Unresponsiveness to Adrenocorticotropic Hormone 73
Isolated Glucocorticoid Deficiency 73

Characteristics:


Inheritance:

Autosomal recessive 57

Classifications:



External Ids:

Disease Ontology 11 DOID:0080621
OMIM® 57 202200
OMIM Phenotypic Series 57 PS202200
MeSH 43 D000309
UMLS 71 C1859974

Summaries for Glucocorticoid Deficiency 1

UniProtKB/Swiss-Prot: 73 A form of glucocorticoid deficiency, a rare autosomal recessive disorder characterized by resistance to ACTH action on the adrenal cortex, adrenal insufficiency and an inability of the adrenal cortex to produce cortisol. It usually presents in the neonatal period or in early childhood with episodes of hypoglycemia and other symptoms related to cortisol deficiency, including failure to thrive, recurrent illnesses or infections, convulsions, and shock. In a small number of patients hypoglycemia can be sufficiently severe and persistent that it leads to serious long-term neurological damage or death. The diagnosis is readily confirmed with a low plasma cortisol measurement in the presence of an elevated ACTH level, and normal aldosterone and plasma renin measurements.

MalaCards based summary: Glucocorticoid Deficiency 1, also known as acth resistance, is related to familial glucocorticoid deficiency and achalasia-addisonianism-alacrima syndrome. An important gene associated with Glucocorticoid Deficiency 1 is MC2R (Melanocortin 2 Receptor), and among its related pathways/superpathways are GPCR downstream signalling and Signal Transduction. Affiliated tissues include adrenal cortex, adrenal gland and cortex, and related phenotypes are generalized hyperpigmentation and coma

OMIM®: 57 Familial glucocorticoid deficiency is an autosomal recessive disorder resulting from defects in the action of adrenocorticotropic hormone (ACTH) to stimulate glucocorticoid synthesis in the adrenal. Production of mineralocorticoids by the adrenal is normal. Patients present in early life with low or undetectable cortisol and, because of the failure of the negative feedback loop to the pituitary and hypothalamus, grossly elevated ACTH levels (summary by Clark et al., 2009). (202200) (Updated 08-Dec-2022)

Disease Ontology: 11 A familial glucocorticoid deficiency that has material basis in homozygous or compound heterozygous mutation in the gene encoding melanocortin-2 receptor, which is also referred to as adrenocorticotropin receptor, on chromosome 18p11.

Wikipedia: 75 Glucocorticoid deficiency 1 is an adrenocortical failure characterized by low levels of plasma cortisol... more...

Related Diseases for Glucocorticoid Deficiency 1

Diseases related to Glucocorticoid Deficiency 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 112)
# Related Disease Score Top Affiliating Genes
1 familial glucocorticoid deficiency 32.4 POMC MRAP MC2R
2 achalasia-addisonianism-alacrima syndrome 30.6 POMC MRAP MC2R
3 hypogonadism 29.4 TACR3 POMC KISS1R KISS1 GNRHR
4 cryptorchidism, unilateral or bilateral 29.4 TACR3 POMC KISS1R KISS1 GNRHR
5 aarskog-scott syndrome 11.6
6 scott syndrome 11.3
7 brachydactyly 11.2
8 noonan syndrome 1 11.1
9 glucocorticoid deficiency 2 11.0
10 glucocorticoid deficiency 3 11.0
11 glucocorticoid deficiency 4 with or without mineralocorticoid deficiency 11.0
12 glucocorticoid deficiency 5 11.0
13 global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies 11.0
14 robinow syndrome 10.9
15 unilateral focal polymicrogyria 10.9
16 crane-heise syndrome 10.9
17 diamond-blackfan anemia 3 10.9
18 noonan syndrome-like disorder with loose anagen hair 2 10.9
19 intellectual developmental disorder, autosomal dominant 56 10.9
20 rasopathy 10.9
21 noonan syndrome-like disorder with loose anagen hair 10.9
22 syphilitic meningitis 10.9
23 tetanus neonatorum 10.9
24 waterhouse-friderichsen syndrome 10.3 POMC MC2R
25 adrenal rest tumor 10.2 POMC MC2R
26 pituitary-dependent cushing's disease 10.2 POMC MC2R
27 corticosteroid-binding globulin deficiency 10.2 POMC MC2R
28 adrenal insufficiency, congenital, with 46,xy sex reversal, partial or complete 10.2 POMC MC2R
29 central pontine myelinolysis 10.2 POMC AVPR2
30 premature ovarian failure 7 10.2
31 diabetes insipidus, neurohypophyseal 10.2 POMC AVPR2
32 inappropriate adh syndrome 10.2 POMC AVPR2
33 steroid inherited metabolic disorder 10.2 POMC MC2R
34 generalized epilepsy with febrile seizures plus 10.1
35 adrenal cortical hypofunction 10.1 POMC MC2R
36 hypogonadotropic hypogonadism 7 with or without anosmia 10.1 TACR3 GNRHR
37 46,xy sex reversal 10.1 POMC MC2R GNRHR
38 choanal atresia, posterior 10.1 TACR3 GNRHR
39 acute adrenal insufficiency 10.1
40 leydig cell hypoplasia 10.1 KISS1R GNRHR
41 achalasia 10.1
42 renal pelvis transitional cell carcinoma 10.1 TAS1R3 TAS1R2
43 attention deficit-hyperactivity disorder 10.1
44 mycobacterium tuberculosis 1 10.1
45 acth-independent macronodular adrenal hyperplasia 10.1 POMC MC2R
46 central diabetes insipidus 10.1 POMC AVPR2
47 autonomic nervous system benign neoplasm 10.1 POMC NTRK1
48 x-linked nephrogenic diabetes insipidus 10.1 RHO GNRHR AVPR2
49 peripheral nervous system benign neoplasm 10.1 POMC NTRK1
50 nephrogenic diabetes insipidus 10.1 RHO GNRHR AVPR2

Graphical network of the top 20 diseases related to Glucocorticoid Deficiency 1:



Diseases related to Glucocorticoid Deficiency 1

Symptoms & Phenotypes for Glucocorticoid Deficiency 1

Human phenotypes related to Glucocorticoid Deficiency 1:

30 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 generalized hyperpigmentation 30 Very rare (1%) HP:0007440
2 coma 30 Very rare (1%) HP:0001259
3 recurrent hypoglycemia 30 Very rare (1%) HP:0001988
4 increased circulating acth level 30 Very rare (1%) HP:0003154
5 decreased circulating cortisol level 30 Very rare (1%) HP:0008163
6 abnormal response to acth stimulation test 30 Very rare (1%) HP:0031074
7 seizure 30 HP:0001250
8 failure to thrive 30 HP:0001508
9 tall stature 30 HP:0000098
10 accelerated skeletal maturation 30 HP:0005616
11 recurrent infections 30 HP:0002719
12 hyperpigmentation of the skin 30 HP:0000953

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Growth Other:
failure to thrive

Growth Height:
tall stature

Skeletal:
advanced bone age

Metabolic Features:
recurrent hypoglycemic episodes

Laboratory Abnormalities:
hypoglycemia
low to undetectable plasma cortisol
elevated plasma acth
normal plasma renin
normal plasma aldosterone

Neurologic Central Nervous System:
coma
seizures

Skin Nails Hair Skin:
hyperpigmentation

Immunology:
frequent, severe infections

Clinical features from OMIM®:

202200 (Updated 08-Dec-2022)

GenomeRNAi Phenotypes related to Glucocorticoid Deficiency 1 according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00249-S 9.28 TAS1R2
2 Decreased viability GR00381-A-1 9.28 AVPR2 TAS1R2 TAS1R3
3 Decreased viability GR00381-A-2 9.28 TAS1R3
4 Decreased viability GR00381-A-3 9.28 AVPR2 TAS1R2 TAS1R3
5 Decreased viability GR00402-S-2 9.28 TAS1R2

MGI Mouse Phenotypes related to Glucocorticoid Deficiency 1:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.1 GNRHR KISS1 KISS1R MC2R NPY NTRK1
2 homeostasis/metabolism MP:0005376 9.9 AVPR2 GNRHR KISS1 KISS1R MC2R MRAP
3 adipose tissue MP:0005375 9.73 KISS1 KISS1R MC2R NPY POMC TACR3
4 endocrine/exocrine gland MP:0005379 9.56 GNRHR KISS1 KISS1R MC2R MRAP POMC
5 taste/olfaction MP:0005394 8.8 TAS1R1 TAS1R2 TAS1R3

Drugs & Therapeutics for Glucocorticoid Deficiency 1

Search Clinical Trials, NIH Clinical Center for Glucocorticoid Deficiency 1

Genetic Tests for Glucocorticoid Deficiency 1

Genetic tests related to Glucocorticoid Deficiency 1:

# Genetic test Affiliating Genes
1 Glucocorticoid Deficiency 1 28 MC2R

Anatomical Context for Glucocorticoid Deficiency 1

Organs/tissues related to Glucocorticoid Deficiency 1:

MalaCards : Adrenal Cortex, Adrenal Gland, Cortex, Hypothalamus, Pituitary, Bone, Skin

Publications for Glucocorticoid Deficiency 1

Articles related to Glucocorticoid Deficiency 1:

(show top 50) (show all 249)
# Title Authors PMID Year
1
Hereditary isolated glucocorticoid deficiency is associated with abnormalities of the adrenocorticotropin receptor gene. 62 57 5
8227361 1993
2
Familial glucocorticoid deficiency associated with point mutation in the adrenocorticotropin receptor. 57 5
8094489 1993
3
Exclusion of the adrenocorticotropin (ACTH) receptor (MC2R) locus in some families with ACTH resistance but no mutations of the MC2R coding sequence (familial glucocorticoid deficiency type 2). 53 62 57
9768670 1998
4
Molecular insights into inherited ACTH resistance syndromes. 53 62 5
18407210 1994
5
Homozygous nonsense and frameshift mutations of the ACTH receptor in children with familial glucocorticoid deficiency (FGD) are not associated with long-term mineralocorticoid deficiency. 62 5
19170705 2009
6
Severe loss-of-function mutations in the adrenocorticotropin receptor (ACTHR, MC2R) can be found in patients diagnosed with salt-losing adrenal hypoplasia. 62 5
17223989 2007
7
Adrenocorticotropin receptor gene mutations in familial glucocorticoid deficiency: relationships with clinical features in four families. 62 5
7829641 1995
8
Primary Adrenocortical Insufficiency Case Series: Genetic Etiologies More Common than Expected. 5
26650942 2016
9
Short stature in a patient with familial glucocorticoid deficiency. 5
21932602 2011
10
Phenotypic characteristics of familial glucocorticoid deficiency (FGD) type 1 and 2. 5
19558534 2010
11
The genetics of familial glucocorticoid deficiency. 57
19500760 2009
12
The majority of adrenocorticotropin receptor (melanocortin 2 receptor) mutations found in familial glucocorticoid deficiency type 1 lead to defective trafficking of the receptor to the cell surface. 5
18840636 2008
13
A novel adrenocorticotropin receptor mutation alters its structure and function, causing familial glucocorticoid deficiency. 5
18492762 2008
14
A novel variant of familial glucocorticoid deficiency prevalent among the Irish Traveler population. 57
18430777 2008
15
Novel compound heterozygous mutation of the MC2R gene in a patient with familial glucocorticoid deficiency. 5
17128565 2006
16
Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2. 57
15654338 2005
17
Linkage of one gene for familial glucocorticoid deficiency type 2 (FGD2) to chromosome 8q and further evidence of heterogeneity. 57
12384787 2002
18
Clinical, genetic, and functional characterization of adrenocorticotropin receptor mutations using a novel receptor assay. 5
12213892 2002
19
Functional characterization of naturally occurring mutations of the human adrenocorticotropin receptor: poor correlation of phenotype and genotype. 5
10443676 1999
20
Demonstration by transfection studies that mutations in the adrenocorticotropin receptor gene are one cause of the hereditary syndrome of glucocorticoid deficiency. 5
8636348 1996
21
Siblings with ACTH insensitivity due to lack of ACTH binding to the receptor. 57
7627261 1995
22
Mutations of the ACTH receptor gene are only one cause of familial glucocorticoid deficiency. 57
8069303 1994
23
Hereditary adrenocortical unresponsiveness to adrenocorticotropin with a postreceptor defect. 57
1320052 1992
24
The simultaneous presentation of a Reye-like syndrome in two male sibs. 57
2539720 1989
25
An ACTH receptor on human mononuclear leukocytes. Relation to adrenal ACTH-receptor activity. 57
2823138 1987
26
Absent aldosterone response to ACTH in familial glucocorticoid deficiency. 57
198655 1977
27
Isolated glucocorticoid insufficiency. 57
1150481 1975
28
Familial glucocorticoid deficiency. Studies of diagnosis and pathogenesis. 57
238474 1975
29
Familial glucocorticoid insufficiency. 57
4349230 1973
30
Hereditary adrenocortical unresponsiveness to adrenocorticotropic hormone. 57
4342294 1972
31
Hereditary adrenocortical unresponsiveness to ACTH. 57
4312011 1970
32
The syndrome of congenital adrenocortical unresponsiveness to ACTH. Report of six cases. 57
4302512 1968
33
Heterogeneity in the molecular basis of ACTH resistance syndrome. 53 62
18426811 2008
34
Adrenocorticotropin resistance syndromes. 53 62
18493136 2008
35
Disorders of adrenal development. 53 62
18493131 2008
36
The genetics of ACTH resistance syndromes. 53 62
17161331 2006
37
Compound heterozygosity of a frameshift mutation in the coding region and a single base substitution in the promoter of the ACTH receptor gene in a family with isolated glucocorticoid deficiency. 53 62
17128564 2006
38
Spectrum of mutations of the AAAS gene in Allgrove syndrome: lack of mutations in six kindreds with isolated resistance to corticotropin. 53 62
11701718 2001
39
ACTH resistance syndromes. 53 62
10698592 1999
40
Genetic heterogeneity of adrenocorticotropin (ACTH) resistance syndromes: identification of a novel mutation of the ACTH receptor gene in hereditary glucocorticoid deficiency. 53 62
9758716 1998
41
Diminished adrenal androgen secretion in familial glucocorticoid deficiency implicates a significant role for ACTH in the induction of adrenarche. 53 62
9196605 1997
42
Adrenocorticotropin receptor and adrenal disorders. 53 62
9167964 1997
43
Defects in G protein-coupled signal transduction in human disease. 53 62
8815789 1996
44
Molecular genetics of the ACTH and melanocyte-stimulating hormone receptors. 53 62
18407163 1993
45
Addison's disease without hyperpigmentation in pediatrics: pointing towards specific causes. 62
36348260 2022
46
Spontaneous Mutational Patterns and Novel Mutations for Delamanid Resistance in Mycobacterium tuberculosis. 62
36448833 2022
47
Proteogenomic, Epigenetic, and Clinical Implications of Recurrent Aberrant Splice Variants in Clear Cell Renal Cell Carcinoma. 62
35718636 2022
48
Primary adrenal insufficiency in a patient with biallelic QRSL1 mutations. 62
35894854 2022
49
A retrospective analysis of endocrine disease in sphingosine-1-phosphate lyase insufficiency: case series and literature review. 62
35904228 2022
50
Novel truncating variants in FGD1 detected in two Danish families with Aarskog-Scott syndrome and myopathic features. 62
35388608 2022

Variations for Glucocorticoid Deficiency 1

ClinVar genetic disease variations for Glucocorticoid Deficiency 1:

5 (show top 50) (show all 120)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MC2R NM_000529.2(MC2R):c.221G>T (p.Ser74Ile) SNV Pathogenic
3258 rs104894658 GRCh37: 18:13885297-13885297
GRCh38: 18:13885298-13885298
2 MC2R NM_000529.2(MC2R):c.601C>T (p.Arg201Ter) SNV Pathogenic
3259 rs104894659 GRCh37: 18:13884917-13884917
GRCh38: 18:13884918-13884918
3 MC2R NM_000529.2(MC2R):c.360C>G (p.Ser120Arg) SNV Pathogenic
3260 rs104894656 GRCh37: 18:13885158-13885158
GRCh38: 18:13885159-13885159
4 MC2R NM_000529.2(MC2R):c.382C>T (p.Arg128Cys) SNV Pathogenic
3261 rs104894657 GRCh37: 18:13885136-13885136
GRCh38: 18:13885137-13885137
5 MC2R NM_000529.2(MC2R):c.319G>A (p.Asp107Asn) SNV Pathogenic
3262 rs104894661 GRCh37: 18:13885199-13885199
GRCh38: 18:13885200-13885200
6 MC2R NM_000529.2(MC2R):c.752G>T (p.Cys251Phe) SNV Pathogenic
3264 rs104894662 GRCh37: 18:13884766-13884766
GRCh38: 18:13884767-13884767
7 MC2R NM_000529.2(MC2R):c.761A>G (p.Tyr254Cys) SNV Pathogenic
3266 rs28940892 GRCh37: 18:13884757-13884757
GRCh38: 18:13884758-13884758
8 MC2R NM_000529.2(MC2R):c.376G>T (p.Ala126Ser) SNV Pathogenic
18425 rs267607231 GRCh37: 18:13885142-13885142
GRCh38: 18:13885143-13885143
9 MRAP NM_001379228.1(MRAP):c.1A>G (p.Met1Val) SNV Pathogenic
444067 rs1555897462 GRCh37: 21:33671283-33671283
GRCh38: 21:32298972-32298972
10 MC2R NM_000529.2(MC2R):c.459dup (p.Ile154fs) DUP Pathogenic
444065 rs1555619430 GRCh37: 18:13885058-13885059
GRCh38: 18:13885059-13885060
11 MRAP NM_001379228.1(MRAP):c.3G>A (p.Met1Ile) SNV Pathogenic
1841 rs80358231 GRCh37: 21:33671285-33671285
GRCh38: 21:32298974-32298974
12 MC2R NM_000529.2(MC2R):c.424G>T (p.Val142Leu) SNV Pathogenic
444066 rs199950178 GRCh37: 18:13885094-13885094
GRCh38: 18:13885095-13885095
13 MC2R NM_000529.2(MC2R):c.702del (p.Phe235fs) DEL Pathogenic
444063 rs1555619372 GRCh37: 18:13884816-13884816
GRCh38: 18:13884817-13884817
14 MC2R NM_000529.2(MC2R):c.674T>G (p.Leu225Arg) SNV Pathogenic
444064 rs1555619377 GRCh37: 18:13884844-13884844
GRCh38: 18:13884845-13884845
15 MC2R NM_000529.2(MC2R):c.560del (p.Val187fs) DEL Pathogenic
492868 rs1555619406 GRCh37: 18:13884958-13884958
GRCh38: 18:13884959-13884959
16 MC2R NM_000529.2(MC2R):c.681_688dup (p.Phe230fs) DUP Pathogenic
1691320 GRCh37: 18:13884829-13884830
GRCh38: 18:13884830-13884831
17 MC2R NM_000529.2(MC2R):c.652_653insA (p.Ala218fs) INSERT Pathogenic
3263 GRCh37: 18:13884865-13884866
GRCh38: 18:13884866-13884867
18 MRAP NM_001379228.1(MRAP):c.106+1del DEL Pathogenic
444068 rs1476574441 GRCh37: 21:33671389-33671389
GRCh38: 21:32299078-32299078
19 MC2R NM_000529.2(MC2R):c.409C>T (p.Arg137Trp) SNV Pathogenic/Likely Pathogenic
3265 rs104894660 GRCh37: 18:13885109-13885109
GRCh38: 18:13885110-13885110
20 MC2R NM_000529.2(MC2R):c.676G>C (p.Gly226Arg) SNV Likely Pathogenic
1285296 GRCh37: 18:13884842-13884842
GRCh38: 18:13884843-13884843
21 MC2R NM_000529.2(MC2R):c.437G>A (p.Arg146His) SNV Likely Pathogenic
631794 rs758709668 GRCh37: 18:13885081-13885081
GRCh38: 18:13885082-13885082
22 MC2R NM_000529.2(MC2R):c.765G>A (p.Met255Ile) SNV Uncertain Significance
326193 rs181640454 GRCh37: 18:13884753-13884753
GRCh38: 18:13884754-13884754
23 MC2R NM_000529.2(MC2R):c.*1469A>G SNV Uncertain Significance
889232 rs1258255213 GRCh37: 18:13883155-13883155
GRCh38: 18:13883156-13883156
24 MC2R NM_000529.2(MC2R):c.*673C>T SNV Uncertain Significance
889290 rs1039130161 GRCh37: 18:13883951-13883951
GRCh38: 18:13883952-13883952
25 MC2R NM_000529.2(MC2R):c.*582C>A SNV Uncertain Significance
889291 rs34861769 GRCh37: 18:13884042-13884042
GRCh38: 18:13884043-13884043
26 MC2R NM_000529.2(MC2R):c.410G>A (p.Arg137Gln) SNV Uncertain Significance
889348 rs1208417750 GRCh37: 18:13885108-13885108
GRCh38: 18:13885109-13885109
27 MC2R NM_000529.2(MC2R):c.409C>A (p.Arg137=) SNV Uncertain Significance
889349 rs104894660 GRCh37: 18:13885109-13885109
GRCh38: 18:13885110-13885110
28 MC2R NM_000529.2(MC2R):c.403G>A (p.Ala135Thr) SNV Uncertain Significance
889350 rs764887426 GRCh37: 18:13885115-13885115
GRCh38: 18:13885116-13885116
29 MC2R NM_000529.2(MC2R):c.377C>T (p.Ala126Val) SNV Uncertain Significance
889351 rs368669544 GRCh37: 18:13885141-13885141
GRCh38: 18:13885142-13885142
30 MC2R NM_000529.2(MC2R):c.133G>A (p.Val45Ile) SNV Uncertain Significance
889352 rs148298654 GRCh37: 18:13885385-13885385
GRCh38: 18:13885386-13885386
31 MC2R NM_000529.2(MC2R):c.*2572G>A SNV Uncertain Significance
889852 rs2045234534 GRCh37: 18:13882052-13882052
GRCh38: 18:13882053-13882053
32 MC2R NM_000529.2(MC2R):c.*2427T>C SNV Uncertain Significance
889853 rs2045235792 GRCh37: 18:13882197-13882197
GRCh38: 18:13882198-13882198
33 MC2R NM_000529.2(MC2R):c.*2409A>G SNV Uncertain Significance
889854 rs893851558 GRCh37: 18:13882215-13882215
GRCh38: 18:13882216-13882216
34 MC2R NM_000529.2(MC2R):c.*1068A>G SNV Uncertain Significance
889910 rs1053713890 GRCh37: 18:13883556-13883556
GRCh38: 18:13883557-13883557
35 MC2R NM_000529.2(MC2R):c.*1043G>A SNV Uncertain Significance
889911 rs1007872828 GRCh37: 18:13883581-13883581
GRCh38: 18:13883582-13883582
36 MC2R NM_000529.2(MC2R):c.*1039G>A SNV Uncertain Significance
889912 rs966371778 GRCh37: 18:13883585-13883585
GRCh38: 18:13883586-13883586
37 MC2R NM_000529.2(MC2R):c.*1035G>A SNV Uncertain Significance
889913 rs2045247559 GRCh37: 18:13883589-13883589
GRCh38: 18:13883590-13883590
38 MC2R NM_000529.2(MC2R):c.*1537A>G SNV Uncertain Significance
326140 rs34722656 GRCh37: 18:13883087-13883087
GRCh38: 18:13883088-13883088
39 MC2R NM_000529.2(MC2R):c.*406C>A SNV Uncertain Significance
326183 rs553257738 GRCh37: 18:13884218-13884218
GRCh38: 18:13884219-13884219
40 MC2R NM_000529.2(MC2R):c.*376G>C SNV Uncertain Significance
326186 rs886053649 GRCh37: 18:13884248-13884248
GRCh38: 18:13884249-13884249
41 MC2R NM_000529.2(MC2R):c.*996A>T SNV Uncertain Significance
326166 rs4996467 GRCh37: 18:13883628-13883628
GRCh38: 18:13883629-13883629
42 MC2R NM_000529.2(MC2R):c.*1000T>A SNV Uncertain Significance
326160 rs886053636 GRCh37: 18:13883624-13883624
GRCh38: 18:13883625-13883625
43 MC2R NM_000529.2(MC2R):c.*1092G>A SNV Uncertain Significance
326146 rs886053625 GRCh37: 18:13883532-13883532
GRCh38: 18:13883533-13883533
44 MC2R NM_000529.2(MC2R):c.*1274T>A SNV Uncertain Significance
326143 rs886053623 GRCh37: 18:13883350-13883350
GRCh38: 18:13883351-13883351
45 MC2R NM_000529.2(MC2R):c.*470G>A SNV Uncertain Significance
326180 rs886053646 GRCh37: 18:13884154-13884154
GRCh38: 18:13884155-13884155
46 MC2R NM_000529.2(MC2R):c.524T>A (p.Val175Glu) SNV Uncertain Significance
326195 rs886053651 GRCh37: 18:13884994-13884994
GRCh38: 18:13884995-13884995
47 MC2R NM_000529.2(MC2R):c.*848A>T SNV Uncertain Significance
326172 rs766857800 GRCh37: 18:13883776-13883776
GRCh38: 18:13883777-13883777
48 MC2R NM_000529.2(MC2R):c.*911A>C SNV Uncertain Significance
326169 rs886053643 GRCh37: 18:13883713-13883713
GRCh38: 18:13883714-13883714
49 MC2R NM_000529.2(MC2R):c.*1012T>A SNV Uncertain Significance
326155 rs886053632 GRCh37: 18:13883612-13883612
GRCh38: 18:13883613-13883613
50 MC2R NM_000529.2(MC2R):c.-117A>T SNV Uncertain Significance
326200 rs886053652 GRCh37: 18:13885634-13885634
GRCh38: 18:13885635-13885635

UniProtKB/Swiss-Prot genetic disease variations for Glucocorticoid Deficiency 1:

73
# Symbol AA change Variation ID SNP ID
1 MC2R p.Ser74Ile VAR_003510 rs104894658
2 MC2R p.Ser120Arg VAR_003511 rs104894656
3 MC2R p.Arg128Cys VAR_003512 rs104894657
4 MC2R p.Arg146His VAR_003513 rs758709668
5 MC2R p.Asp103Asn VAR_010702 rs768093045
6 MC2R p.Arg137Trp VAR_010703 rs104894660
7 MC2R p.Asp107Asn VAR_015095 rs104894661
8 MC2R p.Cys251Phe VAR_015096 rs104894662
9 MC2R p.Tyr254Cys VAR_015295 rs28940892

Expression for Glucocorticoid Deficiency 1

Search GEO for disease gene expression data for Glucocorticoid Deficiency 1.

Pathways for Glucocorticoid Deficiency 1

GO Terms for Glucocorticoid Deficiency 1

Cellular components related to Glucocorticoid Deficiency 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.32 TAS1R3 TAS1R2 TAS1R1 TACR3 RHO NTRK1
2 membrane GO:0016021 10.32 TAS1R3 TAS1R2 TAS1R1 TACR3 RHO NTRK1
3 plasma membrane GO:0005886 9.8 TAS1R3 TAS1R2 TAS1R1 TACR3 RHO NTRK1
4 plasma membrane GO:0005887 9.8 TAS1R3 TAS1R2 TAS1R1 TACR3 RHO NTRK1
5 sweet taste receptor complex GO:1903767 9.26 TAS1R2 TAS1R3

Biological processes related to Glucocorticoid Deficiency 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 9.97 AVPR2 GNRHR KISS1R MC2R POMC RHO
2 neuropeptide signaling pathway GO:0007218 9.92 POMC NPY MC2R KISS1R
3 positive regulation of cAMP-mediated signaling GO:0043950 9.76 SCT POMC
4 sensory perception of umami taste GO:0050917 9.73 TAS1R3 TAS1R1
5 sensory perception of sweet taste GO:0050916 9.71 TAS1R3 TAS1R2
6 regulation of appetite GO:0032098 9.67 SCT POMC
7 positive regulation of blood pressure GO:0045777 9.65 TACR3 AVPR2
8 G protein-coupled receptor signaling pathway GO:0007186 9.6 TAS1R3 TAS1R2 TAS1R1 TACR3 RHO MC2R
9 detection of chemical stimulus involved in sensory perception of sweet taste GO:0001582 9.56 TAS1R3 TAS1R2
10 sensory perception of taste GO:0050909 9.35 TAS1R3 TAS1R2 TAS1R1 NPY

Molecular functions related to Glucocorticoid Deficiency 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hormone activity GO:0005179 9.91 SCT POMC NPY
2 G protein-coupled receptor binding GO:0001664 9.88 SCT POMC NPY
3 type 1 melanocortin receptor binding GO:0070996 9.67 POMC MRAP
4 type 4 melanocortin receptor binding GO:0031782 9.62 POMC MRAP
5 G protein-coupled receptor activity GO:0004930 9.58 TAS1R3 TAS1R2 TAS1R1 TACR3 RHO NPY
6 type 3 melanocortin receptor binding GO:0031781 9.56 POMC MRAP
7 sweet taste receptor activity GO:0033041 9.46 TAS1R2 TAS1R3
8 taste receptor activity GO:0008527 9.43 TAS1R3 TAS1R2 TAS1R1

Sources for Glucocorticoid Deficiency 1

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
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