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 ⁷⁵ ⁷³

Acth Resistance ⁵⁷ ⁷⁶ ⁷⁵ ²⁹ ⁵⁵ ⁶ ⁴⁰

Glucocorticoid Deficiency, Due to Acth Unresponsiveness ⁵⁷ ¹³

Familial Glucocorticoid Deficiency 1 ⁵⁷ ⁷⁵

Adrenal Unresponsiveness to Acth ⁵⁷ ⁷⁵

Gccd1 ⁵⁷ ⁷⁵

Fgd1 ⁵⁷ ⁷⁵

Hereditary Unresponsiveness to Adrenocorticotropic Hormone ⁷⁵

Familial Glucocorticoid Deficiency 1; Fgd1 ⁵⁷

Isolated Glucocorticoid Deficiency ⁷⁵

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal recessive

HPO:

³²

glucocorticoid deficiency 1:
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases
Anatomical: Endocrine diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 202200

MedGen ⁴² C4049650 C1859974

MeSH ⁴⁴ D000309

SNOMED-CT via HPO ⁶⁹ 258211005 248328003 4830009 more

UMLS ⁷³ C1859974

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Summaries for Glucocorticoid Deficiency 1

UniProtKB/Swiss-Prot : ⁷⁵ 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 achalasia-addisonianism-alacrima syndrome and familial glucocorticoid deficiency. An important gene associated with Glucocorticoid Deficiency 1 is MC2R (Melanocortin 2 Receptor), and among its related pathways/superpathways are Aldosterone synthesis and secretion and G alpha (s) signalling events. Affiliated tissues include pituitary, adrenal gland and cortex, and related phenotypes are seizures and failure to thrive

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)

Wikipedia : ⁷⁶ Glucocorticoid deficiency 1 (FGD or GCCD) is an adrenocortical failure characterized by low levels of... 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 all 35)

#	Related Disease	Score	Top Affiliating Genes
1	achalasia-addisonianism-alacrima syndrome	32.3	MC2R POMC
2	familial glucocorticoid deficiency	29.9	MC2R MRAP POMC
3	aarskog-scott syndrome	12.1
4	scott syndrome	11.6
5	attention deficit-hyperactivity disorder	11.3
6	global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies	11.3
7	unilateral focal polymicrogyria	11.3
8	crane-heise syndrome	11.0
9	swine influenza	11.0
10	brachydactyly	11.0
11	hepatic infarction	11.0
12	glucocorticoid deficiency 2	10.9
13	glucocorticoid deficiency 3	10.9
14	glucocorticoid deficiency 4 with or without mineralocorticoid deficiency	10.9
15	glucocorticoid deficiency 5	10.9
16	trehalase deficiency	10.8
17	breast cancer	9.8
18	widow's peak	9.8
19	ptosis	9.8
20	prostatitis	9.8
21	thyroid cancer	9.8
22	arthropathy	9.8
23	myopathy	9.8
24	thyroiditis	9.8
25	polymicrogyria	9.8
26	endotheliitis	9.8
27	adrenal rest tumor	9.8	MC2R POMC
28	adrenal cortical adenoma	9.8	MC2R POMC
29	hypoadrenocorticism, familial	9.7	MC2R POMC
30	adrenal adenoma	9.7	MC2R POMC
31	sella turcica neoplasm	9.6	MRAP POMC
32	tuberculum sellae meningioma	9.6	MRAP POMC
33	lipoid congenital adrenal hyperplasia	9.6	MC2R POMC
34	adrenocortical carcinoma, hereditary	9.5	MC2R POMC
35	conn's syndrome	9.2	MC2R POMC

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

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Symptoms & Phenotypes for Glucocorticoid Deficiency 1

Symptoms via clinical synopsis from OMIM:

⁵⁷

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

Human phenotypes related to Glucocorticoid Deficiency 1:

³² (show all 10)

#	Description	HPO Source Accession
1	seizures ³²	HP:0001250
2	failure to thrive ³²	HP:0001508
3	coma ³²	HP:0001259
4	recurrent infections ³²	HP:0002719
5	tall stature ³²	HP:0000098
6	accelerated skeletal maturation ³²	HP:0005616
7	increased circulating acth level ³²	HP:0003154
8	decreased circulating cortisol level ³²	HP:0008163
9	recurrent hypoglycemia ³²	HP:0001988
10	hyperpigmentation of the skin ³²	HP:0000953

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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	Acth Resistance ²⁹	MC2R

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Anatomical Context for Glucocorticoid Deficiency 1

MalaCards organs/tissues related to Glucocorticoid Deficiency 1:

⁴¹

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

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Publications for Glucocorticoid Deficiency 1

Articles related to Glucocorticoid Deficiency 1:

#	Title	Authors	Year
1	Ketogenic diet therapy can improve ACTH-resistant West syndrome in Japan. ( 24559837 )	Hirano Y....Osawa M.	2014
2	Heterogeneity in the molecular basis of ACTH resistance syndrome. ( 18426811 )	Collares C.V....Elias L.L.	2008
3	Novel polymorphisms and lack of mutations in the ACD gene in patients with ACTH resistance syndromes. ( 17466001 )	Keegan C.E....Hammer G.D.	2007
4	The genetics of ACTH resistance syndromes. ( 17161331 )	Metherell L.A....Clark A.J.	2006
5	The activation function of steroidogenic factor-1 is impaired in ACTH-resistant Y1 mutants. ( 11196409 )	Frigeri C....Schimmer B.P.	2000
6	[ACTH resistance syndromes]. ( 11084394 )	Naville D....BAcgeot M.	2000
7	ACTH resistance syndromes. ( 10698592 )	Huebner A....Clark A.J.	1999
8	Genetic heterogeneity of adrenocorticotropin (ACTH) resistance syndromes: identification of a novel mutation of the ACTH receptor gene in hereditary glucocorticoid deficiency. ( 9758716 )	Wu S.M....Chan W.Y.	1998
9	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). ( 9768670 )	Naville D....BAcgeot M.	1998
10	Molecular insights into inherited ACTH resistance syndromes. ( 18407210 )	Clark A.J....Weber A.	1994

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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	PubmedIds
1	MC2R	Melanocortin 2 Receptor	Protein Coding	1339.71	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ Novoseek inferred ⁵⁵ GeneCards inferred via : Disorders Variants (show sections)	8227361 18407210 8636348 (more) 18492762 12213892 8094489 18426811 17161331 18407210 17128564 9167964 8815789 9768670 18407163 11701718 9196605
2	MRAP	Melanocortin 2 Receptor Accessory Protein	Protein Coding	400	Pathogenic ⁶
3	POMC	Proopiomelanocortin	Protein Coding	19.62	Novoseek inferred ⁵⁵ GeneCards inferred via : Novoseek inferred (show sections)	17161331 9758716 18493136 (more) 9768670 18493131 10698592 11701718 18407163

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Variations for Glucocorticoid Deficiency 1

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

⁷⁵

#	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

ClinVar genetic disease variations for Glucocorticoid Deficiency 1:

⁶

(show all 32)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	MRAP	NM_206898.1(MRAP): c.3G> A (p.Met1Ile)	single nucleotide variant	Pathogenic	rs80358231	GRCh37	Chromosome 21, 33671285: 33671285
2	MRAP	NM_206898.1(MRAP): c.3G> A (p.Met1Ile)	single nucleotide variant	Pathogenic	rs80358231	GRCh38	Chromosome 21, 32298974: 32298974
3	MC2R	NM_000529.2(MC2R): c.221G> T (p.Ser74Ile)	single nucleotide variant	Pathogenic	rs104894658	GRCh37	Chromosome 18, 13885297: 13885297
4	MC2R	NM_000529.2(MC2R): c.221G> T (p.Ser74Ile)	single nucleotide variant	Pathogenic	rs104894658	GRCh38	Chromosome 18, 13885298: 13885298
5	MC2R	NM_000529.2(MC2R): c.601C> T (p.Arg201Ter)	single nucleotide variant	Pathogenic	rs104894659	GRCh37	Chromosome 18, 13884917: 13884917
6	MC2R	NM_000529.2(MC2R): c.601C> T (p.Arg201Ter)	single nucleotide variant	Pathogenic	rs104894659	GRCh38	Chromosome 18, 13884918: 13884918
7	MC2R	NM_000529.2(MC2R): c.360C> G (p.Ser120Arg)	single nucleotide variant	Pathogenic	rs104894656	GRCh37	Chromosome 18, 13885158: 13885158
8	MC2R	NM_000529.2(MC2R): c.360C> G (p.Ser120Arg)	single nucleotide variant	Pathogenic	rs104894656	GRCh38	Chromosome 18, 13885159: 13885159
9	MC2R	NM_000529.2(MC2R): c.382C> T (p.Arg128Cys)	single nucleotide variant	Pathogenic	rs104894657	GRCh37	Chromosome 18, 13885136: 13885136
10	MC2R	NM_000529.2(MC2R): c.382C> T (p.Arg128Cys)	single nucleotide variant	Pathogenic	rs104894657	GRCh38	Chromosome 18, 13885137: 13885137
11	MC2R	NM_000529.2(MC2R): c.319G> A (p.Asp107Asn)	single nucleotide variant	Pathogenic	rs104894661	GRCh37	Chromosome 18, 13885199: 13885199
12	MC2R	NM_000529.2(MC2R): c.319G> A (p.Asp107Asn)	single nucleotide variant	Pathogenic	rs104894661	GRCh38	Chromosome 18, 13885200: 13885200
13	MC2R	MC2R, 1-BP INS, 1347A	insertion	Pathogenic
14	MC2R	NM_000529.2(MC2R): c.752G> T (p.Cys251Phe)	single nucleotide variant	Pathogenic	rs104894662	GRCh37	Chromosome 18, 13884766: 13884766
15	MC2R	NM_000529.2(MC2R): c.752G> T (p.Cys251Phe)	single nucleotide variant	Pathogenic	rs104894662	GRCh38	Chromosome 18, 13884767: 13884767
16	MC2R	NM_000529.2(MC2R): c.409C> T (p.Arg137Trp)	single nucleotide variant	Pathogenic	rs104894660	GRCh37	Chromosome 18, 13885109: 13885109
17	MC2R	NM_000529.2(MC2R): c.409C> T (p.Arg137Trp)	single nucleotide variant	Pathogenic	rs104894660	GRCh38	Chromosome 18, 13885110: 13885110
18	MC2R	NM_000529.2(MC2R): c.761A> G (p.Tyr254Cys)	single nucleotide variant	Pathogenic	rs28940892	GRCh37	Chromosome 18, 13884757: 13884757
19	MC2R	NM_000529.2(MC2R): c.761A> G (p.Tyr254Cys)	single nucleotide variant	Pathogenic	rs28940892	GRCh38	Chromosome 18, 13884758: 13884758
20	MC2R	NM_000529.2(MC2R): c.376G> T (p.Ala126Ser)	single nucleotide variant	Pathogenic	rs267607231	GRCh37	Chromosome 18, 13885142: 13885142
21	MC2R	NM_000529.2(MC2R): c.376G> T (p.Ala126Ser)	single nucleotide variant	Pathogenic	rs267607231	GRCh38	Chromosome 18, 13885143: 13885143
22	MC2R	NM_000529.2(MC2R): c.674T> G (p.Leu225Arg)	single nucleotide variant	Pathogenic		GRCh37	Chromosome 18, 13884844: 13884844
23	MC2R	NM_000529.2(MC2R): c.674T> G (p.Leu225Arg)	single nucleotide variant	Pathogenic		GRCh38	Chromosome 18, 13884845: 13884845
24	MC2R	NM_000529.2(MC2R): c.459dup (p.Ile154Hisfs)	duplication	Pathogenic		GRCh38	Chromosome 18, 13885060: 13885060
25	MC2R	NM_000529.2(MC2R): c.459dup (p.Ile154Hisfs)	duplication	Pathogenic		GRCh37	Chromosome 18, 13885059: 13885059
26	MC2R	NM_000529.2(MC2R): c.424G> T (p.Val142Leu)	single nucleotide variant	Pathogenic	rs199950178	GRCh37	Chromosome 18, 13885094: 13885094
27	MC2R	NM_000529.2(MC2R): c.424G> T (p.Val142Leu)	single nucleotide variant	Pathogenic	rs199950178	GRCh38	Chromosome 18, 13885095: 13885095
28	MRAP	NM_206898.1(MRAP): c.1A> G (p.Met1Val)	single nucleotide variant	Pathogenic		GRCh38	Chromosome 21, 32298972: 32298972
29	MRAP	NM_206898.1(MRAP): c.1A> G (p.Met1Val)	single nucleotide variant	Pathogenic		GRCh37	Chromosome 21, 33671283: 33671283
30	MRAP	NM_206898.1(MRAP): c.106+1delG	deletion	Pathogenic		GRCh38	Chromosome 21, 32299078: 32299078
31	MC2R	NM_000529.2(MC2R): c.702delC (p.Phe235Leufs)	deletion	Pathogenic		GRCh37	Chromosome 18, 13884816: 13884816
32	MC2R	NM_000529.2(MC2R): c.702delC (p.Phe235Leufs)	deletion	Pathogenic		GRCh38	Chromosome 18, 13884817: 13884817

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Expression for Glucocorticoid Deficiency 1

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

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Pathways for Glucocorticoid Deficiency 1

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

#	Super pathways	Score	Top Affiliating Genes
1	Aldosterone synthesis and secretion ³⁷ Show member pathways Adrenergic signaling in cardiomyocytes ³⁷ Ca2+ activated K+ channels ⁶⁶ Cortisol synthesis and secretion ³⁷ Cushing's syndrome ³⁷ Insulin secretion ³⁷ Melanogenesis ³⁷ Thyroid hormone synthesis ³⁷	11.66	MC2R MRAP POMC
2	G alpha (s) signalling events ⁶⁶	11.32	MC2R POMC
3	Diseases of metabolism ⁶⁶ Show member pathways Defective ACTH causes Obesity and Pro-opiomelanocortinin deficiency (POMCD) ⁶⁶ Defective CD320 causes methylmalonic aciduria ⁶⁶ Defective CYP11A1 causes Adrenal insufficiency, congenital, with 46,XY sex reversal (AICSR) ⁶⁶ Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC ⁶⁶ Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD ⁶⁶ Defective TCN2 causes hereditary megaloblastic anemia ⁶⁶ Defects in cobalamin (B12) metabolism ⁶⁶ Defects in vitamin and cofactor metabolism ⁶⁶ Electron transport from NADPH to Ferredoxin ⁶⁶ Metabolic disorders of biological oxidation enzymes ⁶⁶	10.92	MC2R POMC

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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	neuropeptide signaling pathway	GO:0007218	8.62	MC2R POMC

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

#	Name	GO ID	Score	Top Affiliating Genes
1	type 4 melanocortin receptor binding	GO:0031782	9.16	MRAP POMC
2	type 3 melanocortin receptor binding	GO:0031781	8.96	MRAP POMC
3	type 1 melanocortin receptor binding	GO:0070996	8.62	MRAP POMC

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