GCCD1
MCID: GLC042
MIFTS: 49

Glucocorticoid Deficiency 1 (GCCD1)

Categories: Endocrine diseases, Genetic diseases

Aliases & Classifications for Glucocorticoid Deficiency 1

MalaCards integrated aliases for Glucocorticoid Deficiency 1:

Name: Glucocorticoid Deficiency 1 57 12 72 15 70
Acth Resistance 57 73 72 29 54 6
Glucocorticoid Deficiency, Due to Acth Unresponsiveness 57 29 13 39
Familial Glucocorticoid Deficiency 1 57 72
Adrenal Unresponsiveness to Acth 57 72
Gccd1 57 72
Fgd1 57 72
Hereditary Unresponsiveness to Adrenocorticotropic Hormone 72
Familial Glucocorticoid Deficiency 1; Fgd1 57
Isolated Glucocorticoid Deficiency 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


HPO:

31
glucocorticoid deficiency 1:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080621
OMIM® 57 202200
OMIM Phenotypic Series 57 PS202200
MeSH 44 D000309
UMLS 70 C1859974

Summaries for Glucocorticoid Deficiency 1

UniProtKB/Swiss-Prot : 72 Glucocorticoid deficiency 1: 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. An important gene associated with Glucocorticoid Deficiency 1 is MC2R (Melanocortin 2 Receptor), and among its related pathways/superpathways are Signaling by GPCR and Peptide ligand-binding receptors. Affiliated tissues include cortex, adrenal cortex and pituitary, and related phenotypes are failure to thrive and tall stature

Disease Ontology : 12 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.

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 05-Apr-2021)

Wikipedia : 73 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 127)
# Related Disease Score Top Affiliating Genes
1 familial glucocorticoid deficiency 32.2 POMC MRAP MC2R
2 achalasia 30.3 NPY MC2R
3 achalasia-addisonianism-alacrima syndrome 30.1 POMC MRAP MC2R
4 cryptorchidism, unilateral or bilateral 29.5 POMC KISS1R KISS1
5 hypogonadism 29.4 LEP KISS1R KISS1
6 aarskog-scott syndrome 11.6
7 scott syndrome 11.3
8 brachydactyly 11.2
9 attention deficit-hyperactivity disorder 11.1
10 abnormal hair, joint laxity, and developmental delay 11.0
11 glucocorticoid deficiency 2 10.9
12 glucocorticoid deficiency 3 10.9
13 glucocorticoid deficiency 4 with or without mineralocorticoid deficiency 10.9
14 glucocorticoid deficiency 5 10.9
15 unilateral focal polymicrogyria 10.9
16 crane-heise syndrome 10.9
17 charcot-marie-tooth disease, type 4h 10.9
18 rasopathy 10.9
19 waterhouse-friderichsen syndrome 10.2 POMC MC2R
20 adrenal rest tumor 10.2 POMC MC2R
21 corticosteroid-binding globulin deficiency 10.2 POMC MC2R
22 steroid inherited metabolic disorder 10.2 POMC MC2R
23 adrenal cortical hypofunction 10.2 POMC MC2R
24 adrenal hypoplasia, congenital 10.2 POMC MC2R
25 hyperaldosteronism, familial, type i 10.2 POMC MC2R
26 acth-secreting pituitary adenoma 10.2 POMC MC2R
27 acth-independent macronodular adrenal hyperplasia 10.2 POMC MC2R
28 adrenal cortex disease 10.2 POMC MC2R
29 adrenal cortical adenoma 10.1 POMC MC2R
30 generalized epilepsy with febrile seizures plus 10.1
31 hypoadrenocorticism, familial 10.1 POMC MC2R
32 adrenal gland disease 10.1 POMC MC2R
33 syndromic obesity 10.1 POMC LEP
34 carney complex variant 10.1 POMC MC2R
35 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 10.1 POMC LEP
36 sick building syndrome 10.1 POMC LEP
37 atypical depressive disorder 10.1 POMC LEP
38 precocious puberty 10.1 KISS1R KISS1
39 diencephalic neoplasm 10.1 POMC LEP
40 intracranial hypertension, idiopathic 10.1 POMC LEP
41 hypothalamic hamartomas 10.1 KISS1R KISS1
42 idiopathic central precocious puberty 10.1 KISS1R KISS1
43 adrenal adenoma 10.1 POMC MC2R
44 adult syndrome 10.1 POMC LEP
45 growth hormone secreting pituitary adenoma 10.1 POMC KISS1
46 adjustment disorder 10.0 POMC NPY
47 premature ovarian failure 7 10.0
48 withdrawal disorder 10.0 POMC NPY
49 primary pigmented nodular adrenocortical disease 10.0 POMC MC2R
50 normosmic congenital hypogonadotropic hypogonadism 10.0 KISS1R KISS1

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:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 31 HP:0001508
2 tall stature 31 HP:0000098
3 accelerated skeletal maturation 31 HP:0005616
4 recurrent infections 31 HP:0002719
5 coma 31 HP:0001259
6 recurrent hypoglycemia 31 HP:0001988
7 hyperpigmentation of the skin 31 HP:0000953
8 increased circulating acth level 31 HP:0003154
9 decreased circulating cortisol level 31 HP:0008163
10 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
seizures
coma

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

Skeletal:
advanced bone age

Metabolic Features:
recurrent hypoglycemic episodes

Growth Other:
failure to thrive

Growth Height:
tall stature

Skin Nails Hair Skin:
hyperpigmentation

Immunology:
frequent, severe infections

Clinical features from OMIM®:

202200 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Glucocorticoid Deficiency 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.98 KISS1R LEP MC2R MRAP NPY NTRK1
2 adipose tissue MP:0005375 9.93 KISS1 KISS1R LEP MC2R NPY POMC
3 growth/size/body region MP:0005378 9.91 KISS1 KISS1R LEP MC2R NPY NTRK1
4 endocrine/exocrine gland MP:0005379 9.88 KISS1 KISS1R LEP MC2R MRAP POMC
5 homeostasis/metabolism MP:0005376 9.87 KISS1 KISS1R LEP MC2R MRAP NPY
6 liver/biliary system MP:0005370 9.73 KISS1 KISS1R LEP MRAP NPY POMC
7 mortality/aging MP:0010768 9.7 KISS1 KISS1R LEP MC2R MRAP NTRK1
8 nervous system MP:0003631 9.5 KISS1 KISS1R LEP MC2R NPY NTRK1
9 renal/urinary system MP:0005367 9.02 KISS1 KISS1R LEP NPY POMC

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 Acth Resistance 29 MC2R
2 Glucocorticoid Deficiency, Due to Acth Unresponsiveness 29

Anatomical Context for Glucocorticoid Deficiency 1

MalaCards organs/tissues related to Glucocorticoid Deficiency 1:

40
Cortex, Adrenal Cortex, Pituitary, Adrenal Gland, Hypothalamus, Bone

Publications for Glucocorticoid Deficiency 1

Articles related to Glucocorticoid Deficiency 1:

(show top 50) (show all 79)
# Title Authors PMID Year
1
Hereditary isolated glucocorticoid deficiency is associated with abnormalities of the adrenocorticotropin receptor gene. 57 6
8227361 1993
2
Familial glucocorticoid deficiency associated with point mutation in the adrenocorticotropin receptor. 6 57
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). 61 54 57
9768670 1998
4
Molecular insights into inherited ACTH resistance syndromes. 6 54 61
18407210 1994
5
Adrenocorticotropin receptor gene mutations in familial glucocorticoid deficiency: relationships with clinical features in four families. 61 6
7829641 1995
6
Primary Adrenocortical Insufficiency Case Series: Genetic Etiologies More Common than Expected. 6
26650942 2016
7
Short stature in a patient with familial glucocorticoid deficiency. 6
21932602 2011
8
Phenotypic characteristics of familial glucocorticoid deficiency (FGD) type 1 and 2. 6
19558534 2010
9
Homozygous nonsense and frameshift mutations of the ACTH receptor in children with familial glucocorticoid deficiency (FGD) are not associated with long-term mineralocorticoid deficiency. 6
19170705 2009
10
The genetics of familial glucocorticoid deficiency. 57
19500760 2009
11
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. 6
18840636 2008
12
A novel adrenocorticotropin receptor mutation alters its structure and function, causing familial glucocorticoid deficiency. 6
18492762 2008
13
A novel variant of familial glucocorticoid deficiency prevalent among the Irish Traveler population. 57
18430777 2008
14
Severe loss-of-function mutations in the adrenocorticotropin receptor (ACTHR, MC2R) can be found in patients diagnosed with salt-losing adrenal hypoplasia. 6
17223989 2007
15
Novel compound heterozygous mutation of the MC2R gene in a patient with familial glucocorticoid deficiency. 6
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. 6
12213892 2002
19
Functional characterization of naturally occurring mutations of the human adrenocorticotropin receptor: poor correlation of phenotype and genotype. 6
10443676 1999
20
Demonstration by transfection studies that mutations in the adrenocorticotropin receptor gene are one cause of the hereditary syndrome of glucocorticoid deficiency. 6
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. 61 54
18426811 2008
34
Adrenocorticotropin resistance syndromes. 61 54
18493136 2008
35
Disorders of adrenal development. 61 54
18493131 2008
36
The genetics of ACTH resistance syndromes. 54 61
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. 54 61
17128564 2006
38
Spectrum of mutations of the AAAS gene in Allgrove syndrome: lack of mutations in six kindreds with isolated resistance to corticotropin. 61 54
11701718 2001
39
ACTH resistance syndromes. 61 54
10698592 1999
40
Genetic heterogeneity of adrenocorticotropin (ACTH) resistance syndromes: identification of a novel mutation of the ACTH receptor gene in hereditary glucocorticoid deficiency. 54 61
9758716 1998
41
Diminished adrenal androgen secretion in familial glucocorticoid deficiency implicates a significant role for ACTH in the induction of adrenarche. 61 54
9196605 1997
42
Adrenocorticotropin receptor and adrenal disorders. 54 61
9167964 1997
43
Defects in G protein-coupled signal transduction in human disease. 61 54
8815789 1996
44
Molecular genetics of the ACTH and melanocyte-stimulating hormone receptors. 61 54
18407163 1993
45
Triple A (Allgrove) syndrome due to AAAS gene mutation with a rare association of amyotrophy. 61
32700293 2021
46
Isolated glucocorticoid deficiency: Genetic causes and animal models. 61
30817990 2019
47
ACTH Resistance Syndrome: An Experience of Three Cases. 61
30766828 2018
48
Allgrove syndrome and motor neuron disease. 61
30069287 2018
49
Allgrove Syndrome: Adrenal Insufficiency with Hypertensive Encephalopathy. 61
27671188 2016
50
Allgrove (Triple A) Syndrome: A Case Report from the Kashmir Valley. 61
26354489 2015

Variations for Glucocorticoid Deficiency 1

ClinVar genetic disease variations for Glucocorticoid Deficiency 1:

6 (show top 50) (show all 117)
# 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 MC2R, 1-BP INS, 1347A Insertion Pathogenic 3263 GRCh37:
GRCh38:
7 MC2R NM_000529.2(MC2R):c.752G>T (p.Cys251Phe) SNV Pathogenic 3264 rs104894662 GRCh37: 18:13884766-13884766
GRCh38: 18:13884767-13884767
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.761A>G (p.Tyr254Cys) SNV Pathogenic 3266 rs28940892 GRCh37: 18:13884757-13884757
GRCh38: 18:13884758-13884758
10 MC2R NM_000529.2(MC2R):c.376G>T (p.Ala126Ser) SNV Pathogenic 18425 rs267607231 GRCh37: 18:13885142-13885142
GRCh38: 18:13885143-13885143
11 MRAP NM_001285394.2(MRAP):c.-72+5840A>G SNV Pathogenic 444067 rs1555897462 GRCh37: 21:33671283-33671283
GRCh38: 21:32298972-32298972
12 MRAP NM_178817.4(MRAP):c.106+1del Deletion Pathogenic 444068 rs1476574441 GRCh37: 21:33671389-33671389
GRCh38: 21:32299078-32299078
13 MC2R NM_000529.2(MC2R):c.424G>T (p.Val142Leu) SNV Pathogenic 444066 rs199950178 GRCh37: 18:13885094-13885094
GRCh38: 18:13885095-13885095
14 MC2R NM_000529.2(MC2R):c.702del (p.Phe235fs) Deletion Pathogenic 444063 rs1555619372 GRCh37: 18:13884816-13884816
GRCh38: 18:13884817-13884817
15 MC2R NM_000529.2(MC2R):c.674T>G (p.Leu225Arg) SNV Pathogenic 444064 rs1555619377 GRCh37: 18:13884844-13884844
GRCh38: 18:13884845-13884845
16 MC2R NM_000529.2(MC2R):c.459dup (p.Ile154fs) Duplication Pathogenic 444065 rs1555619430 GRCh37: 18:13885058-13885059
GRCh38: 18:13885059-13885060
17 MRAP NM_178817.4(MRAP):c.3G>A (p.Met1Ile) SNV Pathogenic 1841 rs80358231 GRCh37: 21:33671285-33671285
GRCh38: 21:32298974-32298974
18 MC2R NM_000529.2(MC2R):c.437G>A (p.Arg146His) SNV Likely pathogenic 631794 rs758709668 GRCh37: 18:13885081-13885081
GRCh38: 18:13885082-13885082
19 MC2R NM_000529.2(MC2R):c.*1012T>A SNV Uncertain significance 326155 rs886053632 GRCh37: 18:13883612-13883612
GRCh38: 18:13883613-13883613
20 MC2R NM_000529.2(MC2R):c.-117A>T SNV Uncertain significance 326200 rs886053652 GRCh37: 18:13885634-13885634
GRCh38: 18:13885635-13885635
21 MC2R NM_000529.2(MC2R):c.*434T>C SNV Uncertain significance 326181 rs886053647 GRCh37: 18:13884190-13884190
GRCh38: 18:13884191-13884191
22 MC2R NM_000529.2(MC2R):c.*1265A>C SNV Uncertain significance 326144 rs886053624 GRCh37: 18:13883359-13883359
GRCh38: 18:13883360-13883360
23 MC2R NM_000529.2(MC2R):c.*216G>A SNV Uncertain significance 326187 rs184146485 GRCh37: 18:13884408-13884408
GRCh38: 18:13884409-13884409
24 MC2R NM_000529.2(MC2R):c.*27C>T SNV Uncertain significance 326190 rs886053650 GRCh37: 18:13884597-13884597
GRCh38: 18:13884598-13884598
25 MC2R NM_000529.2(MC2R):c.*1452A>G SNV Uncertain significance 326141 rs34158267 GRCh37: 18:13883172-13883172
GRCh38: 18:13883173-13883173
26 MC2R NM_000529.2(MC2R):c.*998T>A SNV Uncertain significance 326164 rs4797823 GRCh37: 18:13883626-13883626
GRCh38: 18:13883627-13883627
27 MC2R NM_000529.2(MC2R):c.*1667G>A SNV Uncertain significance 326136 rs886053621 GRCh37: 18:13882957-13882957
GRCh38: 18:13882958-13882958
28 MC2R NM_000529.2(MC2R):c.*608A>G SNV Uncertain significance 326176 rs886053645 GRCh37: 18:13884016-13884016
GRCh38: 18:13884017-13884017
29 MC2R NM_000529.2(MC2R):c.*1010T>A SNV Uncertain significance 326156 rs886053633 GRCh37: 18:13883614-13883614
GRCh38: 18:13883615-13883615
30 MC2R NM_000529.2(MC2R):c.*791A>G SNV Uncertain significance 326173 rs754283731 GRCh37: 18:13883833-13883833
GRCh38: 18:13883834-13883834
31 MC2R NM_000529.2(MC2R):c.*471C>A SNV Uncertain significance 326179 rs142527936 GRCh37: 18:13884153-13884153
GRCh38: 18:13884154-13884154
32 MC2R NM_000529.2(MC2R):c.*862T>C SNV Uncertain significance 326171 rs886053644 GRCh37: 18:13883762-13883762
GRCh38: 18:13883763-13883763
33 MC2R NM_000529.2(MC2R):c.-129+10T>C SNV Uncertain significance 326201 rs750975919 GRCh37: 18:13915477-13915477
GRCh38: 18:13915478-13915478
34 MC2R NM_000529.2(MC2R):c.*390A>G SNV Uncertain significance 326185 rs749097541 GRCh37: 18:13884234-13884234
GRCh38: 18:13884235-13884235
35 MC2R NM_000529.2(MC2R):c.*470G>A SNV Uncertain significance 326180 rs886053646 GRCh37: 18:13884154-13884154
GRCh38: 18:13884155-13884155
36 MC2R NM_000529.2(MC2R):c.*1537A>G SNV Uncertain significance 326140 rs34722656 GRCh37: 18:13883087-13883087
GRCh38: 18:13883088-13883088
37 MC2R NM_000529.2(MC2R):c.*406C>A SNV Uncertain significance 326183 rs553257738 GRCh37: 18:13884218-13884218
GRCh38: 18:13884219-13884219
38 MC2R NM_000529.2(MC2R):c.*376G>C SNV Uncertain significance 326186 rs886053649 GRCh37: 18:13884248-13884248
GRCh38: 18:13884249-13884249
39 MC2R NM_000529.2(MC2R):c.*996A>T SNV Uncertain significance 326166 rs4996467 GRCh37: 18:13883628-13883628
GRCh38: 18:13883629-13883629
40 MC2R NM_000529.2(MC2R):c.*1000T>A SNV Uncertain significance 326160 rs886053636 GRCh37: 18:13883624-13883624
GRCh38: 18:13883625-13883625
41 MC2R NM_000529.2(MC2R):c.*1092G>A SNV Uncertain significance 326146 rs886053625 GRCh37: 18:13883532-13883532
GRCh38: 18:13883533-13883533
42 MC2R NM_000529.2(MC2R):c.*1274T>A SNV Uncertain significance 326143 rs886053623 GRCh37: 18:13883350-13883350
GRCh38: 18:13883351-13883351
43 MC2R NM_000529.2(MC2R):c.524T>A (p.Val175Glu) SNV Uncertain significance 326195 rs886053651 GRCh37: 18:13884994-13884994
GRCh38: 18:13884995-13884995
44 MC2R NM_000529.2(MC2R):c.*848A>T SNV Uncertain significance 326172 rs766857800 GRCh37: 18:13883776-13883776
GRCh38: 18:13883777-13883777
45 MC2R NM_000529.2(MC2R):c.*911A>C SNV Uncertain significance 326169 rs886053643 GRCh37: 18:13883713-13883713
GRCh38: 18:13883714-13883714
46 MC2R NM_000529.2(MC2R):c.537G>A (p.Thr179=) SNV Uncertain significance 326194 rs137893541 GRCh37: 18:13884981-13884981
GRCh38: 18:13884982-13884982
47 MC2R NM_000529.2(MC2R):c.*578C>A SNV Uncertain significance 326177 rs34482956 GRCh37: 18:13884046-13884046
GRCh38: 18:13884047-13884047
48 MC2R NM_000529.2(MC2R):c.765G>A (p.Met255Ile) SNV Uncertain significance 326193 rs181640454 GRCh37: 18:13884753-13884753
GRCh38: 18:13884754-13884754
49 MC2R NM_000529.2(MC2R):c.*673C>T SNV Uncertain significance 889290 GRCh37: 18:13883951-13883951
GRCh38: 18:13883952-13883952
50 MC2R NM_000529.2(MC2R):c.*582C>A SNV Uncertain significance 889291 GRCh37: 18:13884042-13884042
GRCh38: 18:13884043-13884043

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

72
# 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

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

# Name GO ID Score Top Affiliating Genes
1 G protein-coupled receptor signaling pathway GO:0007186 9.65 POMC NPY MC2R KISS1R KISS1
2 G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger GO:0007187 9.43 NPY MC2R
3 placenta development GO:0001890 9.4 MC2R LEP
4 regulation of metabolic process GO:0019222 9.37 MC2R LEP
5 central nervous system neuron development GO:0021954 9.32 NPY LEP
6 adult feeding behavior GO:0008343 9.16 NPY LEP
7 regulation of blood pressure GO:0008217 9.13 POMC NPY LEP
8 neuropeptide signaling pathway GO:0007218 8.92 POMC NPY MC2R KISS1R

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

# Name GO ID Score Top Affiliating Genes
1 signaling receptor binding GO:0005102 9.5 POMC NPY LEP
2 hormone activity GO:0005179 9.43 POMC NPY LEP
3 G protein-coupled receptor binding GO:0001664 9.37 POMC NPY
4 type 1 melanocortin receptor binding GO:0070996 9.16 POMC MRAP
5 type 4 melanocortin receptor binding GO:0031782 8.96 POMC MRAP
6 type 3 melanocortin receptor binding GO:0031781 8.62 POMC MRAP

Sources for Glucocorticoid Deficiency 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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