Adrenal Cortical Hypofunction disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: ADR010 MIFTS: 31	Adrenal Cortical Hypofunction Categories: Endocrine diseases
Genes Tissues Related diseases Publications Pathways Expand all tables

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Aliases & Classifications for Adrenal Cortical Hypofunction

MalaCards integrated aliases for Adrenal Cortical Hypofunction:

Name: Adrenal Cortical Hypofunction ¹² ¹⁵ ⁷⁰

Adrenal Cortical Insufficiency ¹²

Corticoadrenal Insufficiency ¹²

Classifications:

MalaCards categories:
Anatomical: Endocrine diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:10493

ICD9CM ³⁴ 255.4

NCIt ⁵⁰ C26691

SNOMED-CT ⁶⁷ 68588005

UMLS ⁷⁰ C0405580

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Summaries for Adrenal Cortical Hypofunction

MalaCards based summary : Adrenal Cortical Hypofunction, also known as adrenal cortical insufficiency, is related to premature ovarian failure 7 and achalasia-addisonianism-alacrima syndrome. An important gene associated with Adrenal Cortical Hypofunction is CCR6 (C-C Motif Chemokine Receptor 6), and among its related pathways/superpathways are Aldosterone synthesis and secretion and Diseases of metabolism. Affiliated tissues include cortex and adrenal cortex, and related phenotypes are Decreased viability and Decreased viability

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Related Diseases for Adrenal Cortical Hypofunction

Diseases related to Adrenal Cortical Hypofunction via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 181)

#	Related Disease	Score	Top Affiliating Genes
1	premature ovarian failure 7	32.5	NR5A1 ABCD1
2	achalasia-addisonianism-alacrima syndrome	32.4	POMC NR0B1 MC2R
3	adrenal hypoplasia, congenital	32.1	POMC NR5A1 NR0B1 MC2R
4	hypoadrenocorticism, familial	30.6	TPO TG REN PTPN22 POMC NR5A1
5	hypopituitarism	30.2	POMC INS CRH
6	adie pupil	10.4	TOR1A TNFRSF25
7	cytochrome p450 oxidoreductase deficiency	10.4	POMC CYP21A2
8	type 1 diabetes mellitus 18	10.4	TNFRSF25 PTPN22
9	ectopic cushing syndrome	10.4	POMC CRH
10	hypoaldosteronism	10.4	REN POMC
11	type 1 diabetes mellitus 8	10.4	PTPN22 CCR6
12	mechanical strabismus	10.4	TPO TG
13	nonsyndromic disorders of testicular development	10.4	NR5A1 NR0B1
14	premenstrual tension	10.4	REN POMC
15	somatization disorder	10.4	POMC CRH
16	epithelial malignant thymoma	10.4	TG AIRE
17	iodine hypothyroidism	10.4	TPO TG
18	autoimmune hepatitis type 2	10.4	CYP21A2 CYP11A1
19	dendritic cell thymoma	10.4	TG AIRE
20	fasting hypoglycemia	10.4	POMC CRH
21	selective igg deficiency disease	10.4	TOR1A TNFRSF25
22	immunodeficiency 31c	10.4	TNFRSF25 PTPN22 AIRE
23	nonencapsulated sclerosing carcinoma	10.4	TPO TG
24	latent autoimmune diabetes in adults	10.4	PTPN22 INS
25	precocious puberty, male-limited	10.4	POMC NR0B1 CYP21A2
26	acute thyroiditis	10.4	TPO TG
27	toxic diffuse goiter	10.4	TPO TG
28	aspirin allergy	10.4	TPO TG
29	conversion disorder	10.4	TOR1A CRH
30	postsurgical hypothyroidism	10.4	TPO TG
31	acidophil adenoma	10.4	POMC INS
32	immunoglobulin alpha deficiency	10.4	TOR1A TNFRSF25 CCR6
33	bullous skin disease	10.3	TOR1A TNFRSF25 CCR6
34	nail disorder, nonsyndromic congenital, 1	10.3	TG CCR6 AIRE
35	polyendocrinopathy	10.3	CYP11A1 AIRE
36	esophageal candidiasis	10.3	CCR6 AIRE
37	classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	10.3	POMC CYP21A2
38	goiter, multinodular 1, with or without sertoli-leydig cell tumors	10.3	TPO TG
39	inappropriate adh syndrome	10.3	REN POMC CRH
40	ovarian serous adenofibroma	10.3	TG POMC
41	pituitary-dependent cushing's disease	10.3	POMC CRH
42	cutaneous candidiasis	10.3	CCR6 AIRE
43	scleredema adultorum	10.3	POMC INS
44	subacute lymphocytic thyroiditis	10.3	TPO TG
45	postpartum depression	10.3	TPO POMC CRH
46	thyroid crisis	10.3	TPO TG POMC
47	isthmus cancer	10.3	TG PTPRN
48	wissler-fanconi syndrome	10.3	PTPRN POMC AIRE
49	myxedema	10.3	TPO TG POMC
50	persistent mullerian duct syndrome	10.3	NR5A1 NR0B1 CYP21A2

Graphical network of the top 20 diseases related to Adrenal Cortical Hypofunction:

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Symptoms & Phenotypes for Adrenal Cortical Hypofunction

GenomeRNAi Phenotypes related to Adrenal Cortical Hypofunction according to GeneCards Suite gene sharing:

²⁶

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased viability	GR00173-A	9.77	PTPRN
2	Decreased viability	GR00240-S-1	9.77	NUDT10 TG
3	Decreased viability	GR00249-S	9.77	MC2R NR0B1 NUDT10 PTPRN
4	Decreased viability	GR00386-A-1	9.77	NR5A1 POMC
5	Decreased viability	GR00402-S-2	9.77	ABCD1 MC2R NR5A1 TNFRSF25
6	Reduced mammosphere formation	GR00396-S	9.17	ABCD1 CCR6 CYP21A2 MC2R NR0B1 POMC

MGI Mouse Phenotypes related to Adrenal Cortical Hypofunction:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	hematopoietic system	MP:0005397	10.3	ABCD1 AIRE CCR6 CRH CYP11A1 CYP21A2
2	endocrine/exocrine gland	MP:0005379	10.28	ABCD1 AIRE CRH CYP11A1 INS MC2R
3	behavior/neurological	MP:0005386	10.27	ABCD1 AIRE CRH CYP11A1 CYP21A2 INS
4	homeostasis/metabolism	MP:0005376	10.25	ABCD1 AIRE CCR6 CRH CYP11A1 INS
5	growth/size/body region	MP:0005378	10.22	AIRE CRH CYP11A1 CYP21A2 INS MC2R
6	immune system	MP:0005387	10.19	ABCD1 AIRE CCR6 CRH CYP11A1 CYP21A2
7	mortality/aging	MP:0010768	9.97	ABCD1 AIRE CYP11A1 CYP21A2 INS MC2R
8	nervous system	MP:0003631	9.73	ABCD1 AIRE CCR6 CRH CYP11A1 INS
9	normal	MP:0002873	9.28	ABCD1 AIRE CCR6 CRH CYP11A1 INS

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Drugs & Therapeutics for Adrenal Cortical Hypofunction

Search Clinical Trials , NIH Clinical Center for Adrenal Cortical Hypofunction

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Genetic Tests for Adrenal Cortical Hypofunction

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Anatomical Context for Adrenal Cortical Hypofunction

MalaCards organs/tissues related to Adrenal Cortical Hypofunction:

⁴⁰

Cortex, Adrenal Cortex

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Publications for Adrenal Cortical Hypofunction

Articles related to Adrenal Cortical Hypofunction:

(show all 24)

#	Title	Authors	PMID	Year
1	A human mode of intestinal type gastric carcinoma. ⁶¹	Lai S	30696587	2019
2	Presentation of primary adrenal insufficiency in childhood. ⁶¹	Hsieh S...White PC	21470994	2011
3	[Congenital adrenal hyperplasia complicated by testicular adrenal rest tumors: one-case clinical analysis]. ⁶¹	Sha YW...Han B	21171267	2010
4	[Clinical features of 9 patients with X-linked adrenal hypoplasia congenita caused by DAX1/NR0B1 gene mutations]. ⁶¹	Fu Y...Zhao WG	21029627	2010
5	Familial risks for hospitalization with endocrine diseases. ⁶¹	Hemminki K...Sundquist K	18827002	2008
6	Blood eosinophilia, corticoadrenal insufficiency and eosinophilic cystitis. ⁶¹	Lin HH...Kuo HL	18362497	2008
7	[Laparoscopic surgery for benign adrenal tumor: a report of 10 cases]. ⁶¹	Wang H...Liu ZW	15642205	2005
8	[Werner's syndrome and endocrine disorders]. ⁶¹	Zantour B...Sfar MH	12910063	2003
9	Adrenopause: an imbalance between dehydroepiandrosterone (DHEA) and cortisol secretion. ⁶¹	Valenti G	12508910	2002
10	[Diagnosis of adrenal cortex insufficiency in steroid-dependent bronchial asthma--the CRH test in comparison with diurnal cortisol profile in serum and cortisol in 24-hour urine]. ⁶¹	Kruger U...Spiecker H	7824500	1994
11	Repeatedly relapsing disseminated histoplasmosis: clinical observations during long-term follow-up. ⁶¹	Paya CV...Homburger HA	3598232	1987
12	[Corticoadrenal insufficiency (Addison's disease)]. ⁶¹	Hamet P...Chretien M	6495444	1984
13	[Decrease of urinary adrenalin excretion in primary corticoadrenal insufficiency]. ⁶¹	Crabbe J...Blizzard RM	4660453	1972
14	[Temporal distribution of treatment of corticoadrenal insufficiency. Chonotherapeutic trial]. ⁶¹	Reinberg A...Dupont J	5139435	1971
15	[Clinical study on effect of simultaneous use of xylitol in the prevention of adrenal cortical hypofunction in corticoid therapy]. ⁶¹	Onuki M...Inazuki F	4304514	1968
16	Occurrence of allergic disease in patients with adrenal cortical hypofunction. ⁶¹	CARRYER HM...GASTINEAU CF	13807987	1960
17	[Adrenergic vascular response and adrenal cortical hypofunction]. ⁶¹	PESCE A...RUGIERO G	14432109	1959
18	Adrenal cortical hypofunction in some cases of chronic amoebiasis. ⁶¹	KASLIWAL RM...MATHUR MS	13620929	1958
19	Eight patients with adrenal cortical hypofunction surviving more than fifteen years. ⁶¹	ROWNTREE LG	13271108	1955
20	Oral therapy of adrenal cortical hypofunction; use of combined fluorocortisone acetate and hydrocortisone. ⁶¹	KUPPERMAN HS...EPSTEIN JA	13271094	1955
21	Adrenogenital virilism with adrenal cortical hypofunction; a clinical entity. ⁶¹	KEELER JE...NICOLAY KS	14361534	1955
22	Arthritis following use of desoxycorticosterone acetate and cortisone; occurrence in patient with adrenal cortical hypofunction. ⁶¹	HURSH LM	14353638	1955
23	Temporary adrenal cortical hypofunction in newborns. ⁶¹	CONNELL JR	12984012	1952
24	POTASSIUM: A BASAL FACTOR IN THE SYNDROME OF CORTICOADRENAL INSUFFICIENCY. ⁶¹	Zwemer RL...Truszkowski R	17788915	1936

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Genes for Adrenal Cortical Hypofunction

Genes related to Adrenal Cortical Hypofunction (0 elite genes):

(show all 27)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	CCR6	C-C Motif Chemokine Receptor 6	Protein Coding	9.25	DISEASES inferred ¹⁵ ¹⁵
2	NR0B1	Nuclear Receptor Subfamily 0 Group B Member 1	Protein Coding	8.91	DISEASES inferred ¹⁵
3	POMC	Proopiomelanocortin	Protein Coding	8.77	DISEASES inferred ¹⁵
4	AIRE	Autoimmune Regulator	Protein Coding	8.43	DISEASES inferred ¹⁵
5	NUDT10	Nudix Hydrolase 10	Protein Coding	8.22	DISEASES inferred ¹⁵
6	PTPN22	Protein Tyrosine Phosphatase Non-Receptor Type 22	Protein Coding	7.34	DISEASES inferred ¹⁵
7	TNFRSF25	TNF Receptor Superfamily Member 25	Protein Coding	7.2	DISEASES inferred ¹⁵
8	CRH	Corticotropin Releasing Hormone	Protein Coding	7.1	DISEASES inferred ¹⁵
9	CYP21A2	Cytochrome P450 Family 21 Subfamily A Member 2	Protein Coding	7	DISEASES inferred ¹⁵
10	ABCD1	ATP Binding Cassette Subfamily D Member 1	Protein Coding	6.92	DISEASES inferred ¹⁵
11	TOR1A	Torsin Family 1 Member A	Protein Coding	6.89	DISEASES inferred ¹⁵
12	TPO	Thyroid Peroxidase	Protein Coding	6.87	DISEASES inferred ¹⁵
13	REN	Renin	Protein Coding	6.87	DISEASES inferred ¹⁵
14	TG	Thyroglobulin	Protein Coding	6.83	DISEASES inferred ¹⁵
15	NLRP1	NLR Family Pyrin Domain Containing 1	Protein Coding	6.82	DISEASES inferred ¹⁵
16	NR5A1	Nuclear Receptor Subfamily 5 Group A Member 1	Protein Coding	6.81	DISEASES inferred ¹⁵
17	CYP11A1	Cytochrome P450 Family 11 Subfamily A Member 1	Protein Coding	6.8	DISEASES inferred ¹⁵
18	INS	Insulin	Protein Coding	6.74	DISEASES inferred ¹⁵
19	PTPRN	Protein Tyrosine Phosphatase Receptor Type N	Protein Coding	6.71	DISEASES inferred ¹⁵
20	MC2R	Melanocortin 2 Receptor	Protein Coding	6.71	DISEASES inferred ¹⁵
21	NLRP5	NLR Family Pyrin Domain Containing 5	Protein Coding	6.54	DISEASES inferred ¹⁵
22	CTLA4	Cytotoxic T-Lymphocyte Associated Protein 4	Protein Coding	6.39	DISEASES inferred ¹⁵
23	TNFRSF10A	TNF Receptor Superfamily Member 10a	Protein Coding	6.38	DISEASES inferred ¹⁵
24	HLA-DQA1	Major Histocompatibility Complex, Class II, DQ Alpha 1	Protein Coding	6.31	DISEASES inferred ¹⁵
25	GAD2	Glutamate Decarboxylase 2	Protein Coding	6.29	DISEASES inferred ¹⁵
26	STAR	Steroidogenic Acute Regulatory Protein	Protein Coding	6.15	DISEASES inferred ¹⁵
27	SLC30A10	Solute Carrier Family 30 Member 10	Protein Coding	6.14	DISEASES inferred ¹⁵

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Variations for Adrenal Cortical Hypofunction

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Expression for Adrenal Cortical Hypofunction

Search GEO for disease gene expression data for Adrenal Cortical Hypofunction.

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Pathways for Adrenal Cortical Hypofunction

Pathways related to Adrenal Cortical Hypofunction according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Aldosterone synthesis and secretion ³⁶ Show member pathways Ca2+ activated K+ channels ⁶⁵ Cortisol synthesis and secretion ³⁶ Cushing syndrome ³⁶ Insulin secretion ³⁶ Melanogenesis ³⁶ Thyroid hormone synthesis ³⁶	12.09	TPO TG POMC NR5A1 NR0B1 MC2R
2	Diseases of metabolism ⁶⁵ Show member pathways Defective ACTH causes Obesity and Pro-opiomelanocortinin deficiency (POMCD) ⁶⁵ Defective CD320 causes methylmalonic aciduria ⁶⁵ Defective CYP11A1 causes Adrenal insufficiency, congenital, with 46,XY sex reversal (AICSR) ⁶⁵ Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC ⁶⁵ Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD ⁶⁵ Defective TCN2 causes hereditary megaloblastic anemia ⁶⁵ Defects in cobalamin (B12) metabolism ⁶⁵ Defects in vitamin and cofactor metabolism ⁶⁵ Electron transport from NADPH to Ferredoxin ⁶⁵ Metabolic disorders of biological oxidation enzymes ⁶⁵	11.51	POMC MC2R CYP11A1
3	Metabolism of steroid hormones ⁶⁵ Show member pathways Androgen biosynthesis ⁶⁵ Estrogen biosynthesis ⁶⁵ glucocorticoid biosynthesis ¹ Glucocorticoid biosynthesis ⁶⁵ mineralocorticoid biosynthesis ¹ Mineralocorticoid biosynthesis ⁶⁵ Pregnenolone biosynthesis ⁶⁵	11.4	POMC CYP21A2 CYP11A1
4	Corticotropin-releasing hormone signaling pathway ¹	11.23	POMC CYP21A2 CYP11A1 CRH
5	Glucocorticoid Pathway (HPA Axis), Pharmacodynamics ⁶⁰	10.1	POMC CRH
6	Thyroxine (Thyroid Hormone) Production ¹	9.93	TPO TG

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GO Terms for Adrenal Cortical Hypofunction

Cellular components related to Adrenal Cortical Hypofunction according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	secretory granule	GO:0030141	8.8	TOR1A PTPRN POMC

Biological processes related to Adrenal Cortical Hypofunction according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	fatty acid homeostasis	GO:0055089	9.48	INS ABCD1
2	thyroid hormone generation	GO:0006590	9.46	TPO TG
3	hypothalamus development	GO:0021854	9.43	NR0B1 CRH
4	hormone biosynthetic process	GO:0042446	9.4	TPO TG
5	neuron projection maintenance	GO:1990535	9.37	INS ABCD1
6	male sex determination	GO:0030238	9.32	NR5A1 NR0B1
7	glucocorticoid biosynthetic process	GO:0006704	9.26	CYP21A2 CYP11A1
8	sex determination	GO:0007530	9.16	NR5A1 NR0B1
9	luteinization	GO:0001553	8.96	PTPRN NR5A1
10	response to immobilization stress	GO:0035902	8.8	REN NR0B1 CRH

Molecular functions related to Adrenal Cortical Hypofunction according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	insulin-like growth factor receptor binding	GO:0005159	8.96	REN INS
2	hormone activity	GO:0005179	8.92	TG POMC INS CRH

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