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

GCCD1 MCID: GLC042 MIFTS: 49	Glucocorticoid Deficiency 1 (GCCD1) Categories: Endocrine diseases, Genetic diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

Sources

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:

MalaCards categories:
Global: Genetic diseases
Anatomical: Endocrine diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0080621

OMIM® ⁵⁷ 202200

OMIM Phenotypic Series ⁵⁷ PS202200

MeSH ⁴⁴ D000309

MedGen ⁴¹ C1859974 C4049650

SNOMED-CT via HPO ⁶⁸ 123982003 128613002 246545002 more

UMLS ⁷⁰ C1859974

Sources

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...

Sources

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:

Sources

Symptoms & Phenotypes for Glucocorticoid Deficiency 1

Human phenotypes related to Glucocorticoid Deficiency 1:

³¹ (show all 10)

#	Description	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

Sources

Drugs & Therapeutics for Glucocorticoid Deficiency 1

Search Clinical Trials , NIH Clinical Center for Glucocorticoid Deficiency 1

Sources

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

Sources

Anatomical Context for Glucocorticoid Deficiency 1

MalaCards organs/tissues related to Glucocorticoid Deficiency 1:

⁴⁰

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

Sources

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	Tsigos C...Chrousos GP	8227361	1993
2	Familial glucocorticoid deficiency associated with point mutation in the adrenocorticotropin receptor. ⁶ ⁵⁷	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). ⁶¹ ⁵⁴ ⁵⁷	Naville D...Begeot M	9768670	1998
4	Molecular insights into inherited ACTH resistance syndromes. ⁶ ⁵⁴ ⁶¹	Clark AJ...Weber A	18407210	1994
5	Adrenocorticotropin receptor gene mutations in familial glucocorticoid deficiency: relationships with clinical features in four families. ⁶¹ ⁶	Weber A...Clark AJ	7829641	1995
6	Primary Adrenocortical Insufficiency Case Series: Genetic Etiologies More Common than Expected. ⁶	Tsai SL...Curtis J	26650942	2016
7	Short stature in a patient with familial glucocorticoid deficiency. ⁶	Mathew RP...Kovacs WJ	21932602	2011
8	Phenotypic characteristics of familial glucocorticoid deficiency (FGD) type 1 and 2. ⁶	Chung TT...Clark AJ	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	Chan LF...Clark AJ	19170705	2009
10	The genetics of familial glucocorticoid deficiency. ⁵⁷	Clark AJ...Metherell LA	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	Chung TT...Clark AJ	18840636	2008
12	A novel adrenocorticotropin receptor mutation alters its structure and function, causing familial glucocorticoid deficiency. ⁶	Artigas RA...Fardella CE	18492762	2008
13	A novel variant of familial glucocorticoid deficiency prevalent among the Irish Traveler population. ⁵⁷	O'Riordan SM...Costigan C	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	Lin L...Achermann JC	17223989	2007
15	Novel compound heterozygous mutation of the MC2R gene in a patient with familial glucocorticoid deficiency. ⁶	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. ⁶	Fluck CE...Miller WL	12213892	2002
19	Functional characterization of naturally occurring mutations of the human adrenocorticotropin receptor: poor correlation of phenotype and genotype. ⁶	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. ⁶	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. ⁶¹ ⁵⁴	Collares CV...Elias LL	18426811	2008
34	Adrenocorticotropin resistance syndromes. ⁶¹ ⁵⁴	Cooray SN...Clark AJL	18493136	2008
35	Disorders of adrenal development. ⁶¹ ⁵⁴	Ferraz-de-Souza B...Achermann JC	18493131	2008
36	The genetics of ACTH resistance syndromes. ⁵⁴ ⁶¹	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. ⁵⁴ ⁶¹	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. ⁶¹ ⁵⁴	Sandrini F...Stratakis CA	11701718	2001
39	ACTH resistance syndromes. ⁶¹ ⁵⁴	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. ⁵⁴ ⁶¹	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. ⁶¹ ⁵⁴	Weber A...Savage MO	9196605	1997
42	Adrenocorticotropin receptor and adrenal disorders. ⁵⁴ ⁶¹	Allolio B...Reincke M	9167964	1997
43	Defects in G protein-coupled signal transduction in human disease. ⁶¹ ⁵⁴	Spiegel AM	8815789	1996
44	Molecular genetics of the ACTH and melanocyte-stimulating hormone receptors. ⁶¹ ⁵⁴	Cone RD...Mountjoy KG	18407163	1993
45	Triple A (Allgrove) syndrome due to AAAS gene mutation with a rare association of amyotrophy. ⁶¹	Jayant SS...Bhansali A	32700293	2021
46	Isolated glucocorticoid deficiency: Genetic causes and animal models. ⁶¹	Maharaj A...Guasti L	30817990	2019
47	ACTH Resistance Syndrome: An Experience of Three Cases. ⁶¹	Goyal A...Khadgawat R	30766828	2018
48	Allgrove syndrome and motor neuron disease. ⁶¹	de Freitas MRG...da Sant'Anna M	30069287	2018
49	Allgrove Syndrome: Adrenal Insufficiency with Hypertensive Encephalopathy. ⁶¹	Aftab S...Khalid NA	27671188	2016
50	Allgrove (Triple A) Syndrome: A Case Report from the Kashmir Valley. ⁶¹	Misgar RA...Laway BA	26354489	2015

Sources

Genes for Glucocorticoid Deficiency 1

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

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	MC2R	Melanocortin 2 Receptor	Protein Coding	1353.76	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷² Genetic Tests ²⁹ Likely pathogenic ⁶ Novoseek inferred ⁵⁴ GeneCards inferred via : Disorders Variants (show sections)	8094489 10443676 18407210 (more) 21932602 26650942 17223989 19558534 19170705 12213892 7829641 17128565 18840636 18426811 17161331 17128564 9167964 8815789 9768670 18407163 11701718 9196605
2	MRAP	Melanocortin 2 Receptor Accessory Protein	Protein Coding	400	Pathogenic ⁶
3	POMC	Proopiomelanocortin	Protein Coding	13.16	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴	17161331 9758716 18493136 (more) 9768670 18493131 10698592 11701718 18407163
4	KISS1R	KISS1 Receptor	Protein Coding	5.33	DISEASES inferred ¹⁵
5	KISS1	KiSS-1 Metastasis Suppressor	Protein Coding	5.01	DISEASES inferred ¹⁵
6	NPY	Neuropeptide Y	Protein Coding	4.2	DISEASES inferred ¹⁵
7	NTRK1	Neurotrophic Receptor Tyrosine Kinase 1	Protein Coding	4.02	DISEASES inferred ¹⁵
8	LEP	Leptin	Protein Coding	3.38	DISEASES inferred ¹⁵

Sources

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

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	Signaling by GPCR ⁶⁵ Show member pathways GPCR downstream signaling ⁶⁵ Signal Transduction ⁶⁵	13.64	POMC NTRK1 NPY MC2R LEP KISS1R
2	Peptide ligand-binding receptors ⁶⁵ Show member pathways Class A/1 (Rhodopsin-like receptors) ⁶⁵ Defective AVP causes neurohypophyseal diabetes insipidus (NDI) ⁶⁵ Formyl peptide receptors bind formyl peptides and many other ligands ⁶⁵ G alpha (i) signalling events ⁶⁵ GPCR ligand binding ⁶⁵ GPCRs, Class A Rhodopsin-like ¹ Neuroactive ligand-receptor interaction ³⁶ Orexin and neuropeptides FF and QRFP bind to their respective receptors ⁶⁵ Peptide GPCRs ¹ Tachykinin receptors bind tachykinins ⁶⁵ Vasopressin-like receptors ⁶⁵	13.02	POMC NPY MC2R LEP KISS1R KISS1
3	Neuroscience ⁴	11.99	POMC NTRK1 NPY KISS1R
4	cAMP signaling pathway ³⁶	11.83	POMC NPY MC2R
5	GnRH secretion ³⁶	11.24	KISS1R KISS1
6	Adipocytokine signaling pathway ³⁶	10.97	POMC NPY LEP
7	Development_Leptin signaling via JAK/STAT and MAPK cascades ²³ Show member pathways phospho-PLA2 pathway ⁶⁵	10.85	POMC LEP
8	Antipsychotics Pathway (Metabolic Side Effects), Pharmacodynamics ⁶⁰	10.1	POMC NPY LEP

Sources

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

Sources for Glucocorticoid Deficiency 1

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Apr-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia

Glucocorticoid Deficiency 1 (GCCD1)

Aliases & Classifications for Glucocorticoid Deficiency 1

MalaCards integrated aliases for Glucocorticoid Deficiency 1:

Characteristics:

OMIM®:

HPO:

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®:

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

MalaCards 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

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