Glucocorticoid Deficiency 1 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases
Anatomical: Endocrine diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹¹ DOID:0080621

OMIM® ⁵⁷ 202200

OMIM Phenotypic Series ⁵⁷ PS202200

MeSH ⁴³ D000309

MedGen ⁴⁰ C1859974 C4049650

SNOMED-CT via HPO ⁶⁹ 123982003 128613002 246545002 more

UMLS ⁷¹ C1859974

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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...

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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:

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Symptoms & Phenotypes for Glucocorticoid Deficiency 1

Human phenotypes related to Glucocorticoid Deficiency 1:

³⁰ (show all 12)

#	Description	HPO 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

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Drugs & Therapeutics for Glucocorticoid Deficiency 1

Search Clinical Trials, NIH Clinical Center for Glucocorticoid Deficiency 1

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Genetic Tests for Glucocorticoid Deficiency 1

Genetic tests related to Glucocorticoid Deficiency 1:

#	Genetic test	Affiliating Genes
1	Glucocorticoid Deficiency 1 ²⁸	MC2R

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Anatomical Context for Glucocorticoid Deficiency 1

Organs/tissues related to Glucocorticoid Deficiency 1:

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

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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	Tsigos C...Chrousos GP	8227361	1993
2	Familial glucocorticoid deficiency associated with point mutation in the adrenocorticotropin receptor. ⁵⁷ ⁵	Clark AJ...Grossman A	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	Naville D...Begeot M	9768670	1998
4	Molecular insights into inherited ACTH resistance syndromes. ⁵³ ⁶² ⁵	Clark AJ...Weber A	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	Chan LF...Clark AJ	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	Lin L...Achermann JC	17223989	2007
7	Adrenocorticotropin receptor gene mutations in familial glucocorticoid deficiency: relationships with clinical features in four families. ⁶² ⁵	Weber A...Clark AJ	7829641	1995
8	Primary Adrenocortical Insufficiency Case Series: Genetic Etiologies More Common than Expected. ⁵	Tsai SL...Curtis J	26650942	2016
9	Short stature in a patient with familial glucocorticoid deficiency. ⁵	Mathew RP...Kovacs WJ	21932602	2011
10	Phenotypic characteristics of familial glucocorticoid deficiency (FGD) type 1 and 2. ⁵	Chung TT...Clark AJ	19558534	2010
11	The genetics of familial glucocorticoid deficiency. ⁵⁷	Clark AJ...Metherell LA	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	Chung TT...Clark AJ	18840636	2008
13	A novel adrenocorticotropin receptor mutation alters its structure and function, causing familial glucocorticoid deficiency. ⁵	Artigas RA...Fardella CE	18492762	2008
14	A novel variant of familial glucocorticoid deficiency prevalent among the Irish Traveler population. ⁵⁷	O'Riordan SM...Costigan C	18430777	2008
15	Novel compound heterozygous mutation of the MC2R gene in a patient with familial glucocorticoid deficiency. ⁵	Matsuura H...Koike K	17128565	2006
16	Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2. ⁵⁷	Metherell LA...Clark AJ	15654338	2005
17	Linkage of one gene for familial glucocorticoid deficiency type 2 (FGD2) to chromosome 8q and further evidence of heterogeneity. ⁵⁷	Genin E...Naville D	12384787	2002
18	Clinical, genetic, and functional characterization of adrenocorticotropin receptor mutations using a novel receptor assay. ⁵	Fluck CE...Miller WL	12213892	2002
19	Functional characterization of naturally occurring mutations of the human adrenocorticotropin receptor: poor correlation of phenotype and genotype. ⁵	Elias LL...Clark AJ	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	Naville D...Begeot M	8636348	1996
21	Siblings with ACTH insensitivity due to lack of ACTH binding to the receptor. ⁵⁷	Yamamoto Y...Morimoto I	7627261	1995
22	Mutations of the ACTH receptor gene are only one cause of familial glucocorticoid deficiency. ⁵⁷	Weber A...Clark AJ	8069303	1994
23	Hereditary adrenocortical unresponsiveness to adrenocorticotropin with a postreceptor defect. ⁵⁷	Yamaoka T...Yamashita K	1320052	1992
24	The simultaneous presentation of a Reye-like syndrome in two male sibs. ⁵⁷	Allen DB...Gibert EF	2539720	1989
25	An ACTH receptor on human mononuclear leukocytes. Relation to adrenal ACTH-receptor activity. ⁵⁷	Smith EM...Blalock JE	2823138	1987
26	Absent aldosterone response to ACTH in familial glucocorticoid deficiency. ⁵⁷	Spark RF...Etzkorn JR	198655	1977
27	Isolated glucocorticoid insufficiency. ⁵⁷	Werder EA...Siebenmann R	1150481	1975
28	Familial glucocorticoid deficiency. Studies of diagnosis and pathogenesis. ⁵⁷	Thistlethwaite D...Harkness RA	238474	1975
29	Familial glucocorticoid insufficiency. ⁵⁷	Moshang T...Amrhein JA	4349230	1973
30	Hereditary adrenocortical unresponsiveness to adrenocorticotropic hormone. ⁵⁷	Kelch RP...Grumbach MM	4342294	1972
31	Hereditary adrenocortical unresponsiveness to ACTH. ⁵⁷	Franks RC...Nance WE	4312011	1970
32	The syndrome of congenital adrenocortical unresponsiveness to ACTH. Report of six cases. ⁵⁷	Migeon CJ...Blizzard RM	4302512	1968
33	Heterogeneity in the molecular basis of ACTH resistance syndrome. ⁵³ ⁶²	Collares CV...Elias LL	18426811	2008
34	Adrenocorticotropin resistance syndromes. ⁵³ ⁶²	Cooray SN...Clark AJL	18493136	2008
35	Disorders of adrenal development. ⁵³ ⁶²	Ferraz-de-Souza B...Achermann JC	18493131	2008
36	The genetics of ACTH resistance syndromes. ⁵³ ⁶²	Metherell LA...Clark AJ	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	Tsiotra PC...Tsigos C	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	Sandrini F...Stratakis CA	11701718	2001
39	ACTH resistance syndromes. ⁵³ ⁶²	Huebner A...Clark AJ	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	Wu SM...Chan WY	9758716	1998
41	Diminished adrenal androgen secretion in familial glucocorticoid deficiency implicates a significant role for ACTH in the induction of adrenarche. ⁵³ ⁶²	Weber A...Savage MO	9196605	1997
42	Adrenocorticotropin receptor and adrenal disorders. ⁵³ ⁶²	Allolio B...Reincke M	9167964	1997
43	Defects in G protein-coupled signal transduction in human disease. ⁵³ ⁶²	Spiegel AM	8815789	1996
44	Molecular genetics of the ACTH and melanocyte-stimulating hormone receptors. ⁵³ ⁶²	Cone RD...Mountjoy KG	18407163	1993
45	Addison's disease without hyperpigmentation in pediatrics: pointing towards specific causes. ⁶²	Giannakopoulos A...Chrysis D	36348260	2022
46	Spontaneous Mutational Patterns and Novel Mutations for Delamanid Resistance in Mycobacterium tuberculosis. ⁶²	Liu Y...Lu J	36448833	2022
47	Proteogenomic, Epigenetic, and Clinical Implications of Recurrent Aberrant Splice Variants in Clear Cell Renal Cell Carcinoma. ⁶²	Chang A...Manley BJ	35718636	2022
48	Primary adrenal insufficiency in a patient with biallelic QRSL1 mutations. ⁶²	Dursun F...Guran T	35894854	2022
49	A retrospective analysis of endocrine disease in sphingosine-1-phosphate lyase insufficiency: case series and literature review. ⁶²	Maharaj A...Prasad R	35904228	2022
50	Novel truncating variants in FGD1 detected in two Danish families with Aarskog-Scott syndrome and myopathic features. ⁶²	Bayat A...Vissing J	35388608	2022

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Genes for Glucocorticoid Deficiency 1

Genes related to Glucocorticoid Deficiency 1 (2 elite genes):

(show all 15)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	MC2R	Melanocortin 2 Receptor	Protein Coding	1344.31	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative variation ⁷³ Genetic Tests ²⁸ Likely pathogenic ⁵ Novoseek inferred ⁵³ GeneCards inferred via : Disorders (show sections)	8094489 8227361 8636348 (more) 10443676 12213892 17223989 18407210 18492762 19170705 19558534 21932602 26650942 7829641 17128565 18840636 18426811 17161331 17128564 9167964 8815789 9768670 18407163 11701718 9196605
2	MRAP	Melanocortin 2 Receptor Accessory Protein	Protein Coding	400	Pathogenic ⁵
3	POMC	Proopiomelanocortin	Protein Coding	9.62	Novoseek inferred ⁵³	17161331 9758716 18493136 (more) 9768670 18493131 10698592 11701718 18407163
4	TACR3	Tachykinin Receptor 3	Protein Coding	6.05	DISEASES inferred ¹⁴
5	GNRHR	Gonadotropin Releasing Hormone Receptor	Protein Coding	5.71	DISEASES inferred ¹⁴
6	AVPR2	Arginine Vasopressin Receptor 2	Protein Coding	5.46	DISEASES inferred ¹⁴
7	TAS1R1	Taste 1 Receptor Member 1	Protein Coding	5.16	DISEASES inferred ¹⁴
8	RHO	Rhodopsin	Protein Coding	4.91	DISEASES inferred ¹⁴
9	TAS1R2	Taste 1 Receptor Member 2	Protein Coding	4.89	DISEASES inferred ¹⁴
10	TAS1R3	Taste 1 Receptor Member 3	Protein Coding	4.81	DISEASES inferred ¹⁴
11	KISS1R	KISS1 Receptor	Protein Coding	4.37	DISEASES inferred ¹⁴
12	KISS1	KiSS-1 Metastasis Suppressor	Protein Coding	4	DISEASES inferred ¹⁴
13	SCT	Secretin	Protein Coding	3.93	DISEASES inferred ¹⁴
14	NPY	Neuropeptide Y	Protein Coding	3.24	DISEASES inferred ¹⁴
15	NTRK1	Neurotrophic Receptor Tyrosine Kinase 1	Protein Coding	2.99	DISEASES inferred ¹⁴

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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

Sources

Expression for Glucocorticoid Deficiency 1

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

Sources

Pathways for Glucocorticoid Deficiency 1

Pathways related to Glucocorticoid Deficiency 1 according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	GPCR downstream signalling ⁶⁶ Show member pathways G alpha (i) signalling events ⁶⁶ G alpha (q) signalling events ⁶⁶ Signaling by GPCR ⁶⁶	13.24	AVPR2 GNRHR KISS1 KISS1R MC2R NPY
2	Signal Transduction ⁶⁶	13.21	TAS1R3 TAS1R2 TAS1R1 TACR3 SCT RHO
3	Class A/1 (Rhodopsin-like receptors) ⁶⁶ Show member pathways GPCR ligand binding ⁶⁶ GPCRs, class A rhodopsin-like ⁷⁴ Peptide GPCRs ⁷⁴ Peptide ligand-binding receptors ⁶⁶	12.56	TAS1R3 TAS1R2 TAS1R1 TACR3 SCT RHO
4	Neuroscience ³	12.19	RHO POMC NTRK1 NPY KISS1R
5	G alpha (s) signalling events ⁶⁶ Show member pathways Defective ACTH causes obesity and POMCD ⁶⁶	11.83	SCT POMC MC2R AVPR2
6	Sensory perception of taste ⁶⁶ Show member pathways Class C/3 (Metabotropic glutamate/pheromone receptors) ⁶⁶ Sensory perception of salty taste ⁶⁶ Sensory perception of sour taste ⁶⁶ Sensory perception of sweet, bitter, and umami (glutamate) taste ⁶⁶	11.71	TAS1R3 TAS1R2 TAS1R1
7	Prader-Willi and Angelman syndrome ⁷⁴	11.32	TACR3 POMC KISS1
8	Kisspeptin/kisspeptin receptor system in the ovary ⁷⁴	11.04	KISS1R KISS1
9	Antipsychotics Pathway (Metabolic Side Effects), Pharmacodynamics ⁶⁰	10.73	POMC NPY

Sources

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

Sources for Glucocorticoid Deficiency 1

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

GCCD1 MCID: GLC042 MIFTS: 51	Glucocorticoid Deficiency 1 (GCCD1) Categories: Endocrine diseases, Genetic diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

Glucocorticoid Deficiency 1 (GCCD1)

Aliases & Classifications for Glucocorticoid Deficiency 1

MalaCards integrated aliases for Glucocorticoid Deficiency 1:

Characteristics:

Inheritance:

Classifications:

External Ids:

Summaries for Glucocorticoid Deficiency 1

Related Diseases for Glucocorticoid Deficiency 1

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

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

Symptoms & Phenotypes for Glucocorticoid Deficiency 1

Human phenotypes related to Glucocorticoid Deficiency 1:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

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

MGI Mouse Phenotypes related to Glucocorticoid Deficiency 1:

Drugs & Therapeutics for Glucocorticoid Deficiency 1

Genetic Tests for Glucocorticoid Deficiency 1

Genetic tests related to Glucocorticoid Deficiency 1:

Anatomical Context for Glucocorticoid Deficiency 1

Organs/tissues related to Glucocorticoid Deficiency 1:

Publications for Glucocorticoid Deficiency 1

Articles related to Glucocorticoid Deficiency 1:

Genes for Glucocorticoid Deficiency 1

Genes related to Glucocorticoid Deficiency 1 (2 elite genes):

Variations for Glucocorticoid Deficiency 1

ClinVar genetic disease variations for Glucocorticoid Deficiency 1:

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

Expression for Glucocorticoid Deficiency 1

Pathways for Glucocorticoid Deficiency 1

Pathways related to Glucocorticoid Deficiency 1 according to GeneCards Suite gene sharing:

GO Terms for Glucocorticoid Deficiency 1

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

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

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

Sources for Glucocorticoid Deficiency 1