Hypoadrenocorticism, Familial disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: HYP780 MIFTS: 63	Hypoadrenocorticism, Familial Categories: Endocrine diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Drugs Expand all tables

Sources

Aliases & Classifications for Hypoadrenocorticism, Familial

MalaCards integrated aliases for Hypoadrenocorticism, Familial:

Name: Hypoadrenocorticism, Familial ⁵⁷ ¹¹

Addison Disease ⁵⁷ ¹¹ ¹⁹ ⁵⁸ ⁴¹ ⁴³ ⁷¹

Primary Adrenocortical Insufficiency ¹¹ ²⁸ ⁵ ³¹

Adrenal Gland Hypofunction ¹⁹ ⁷⁵ ⁵ ⁷¹

Addison's Disease ¹¹ ¹⁹ ⁷⁵ ¹⁴

Adrenal Hypoplasia ⁵⁷ ¹⁹ ⁷⁵

Adrenal Aplasia ⁵⁷ ¹⁹

Addison Disease, Chronic Adrenal Insufficiency ¹¹

Autoimmune Primary Adrenal Insufficiency ⁷¹

Addison's Disease Due to Autoimmunity ⁷¹

Addison Disease, Susceptibility to ⁵

Hypoadrenocorticism Familial ¹⁹

Autoimmune Addison Disease ⁵⁸

Classic Addison Disease ⁵⁸

Primary Addison Disease ⁵⁸

Primary Hypoadrenalism ¹¹

Autoimmune Adrenalitis ⁵⁸

Addisons Disease ⁵³

Characteristics:

Inheritance:

Autosomal recessive ⁵⁷

Prevelance:

Addison Disease: 1-5/10000 (Specific population, Europe, Norway) 1-9/100000 (United Kingdom) ⁵⁸

Age Of Onset:

Addison Disease: All ages ⁵⁸

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Endocrine diseases

See all MalaCards categories (disease lists)

ICD10: ³¹ ³²

Endocrine, nutritional and metabolic diseases

Disorders of other endocrine glands

Other disorders of adrenal gland

Primary adrenocortical insufficiency

Orphanet: ⁵⁸

Rare endocrine diseases

External Ids:

Disease Ontology ¹¹ DOID:13774

OMIM® ⁵⁷ 240200

MeSH ⁴³ D000224

NCIt ⁴⁹ C26689

SNOMED-CT ⁶⁸ 363732003

ICD10 ³¹ E27.1

MESH via Orphanet ⁴⁴ D000224

ICD10 via Orphanet ³² E27.1

UMLS via Orphanet ⁷² C0001403 C0271737

Orphanet ⁵⁸ ORPHA85138

MedGen ⁴⁰ C1868690

UMLS ⁷¹ C0001403 C0001623 C0271737 more

Sources

Summaries for Hypoadrenocorticism, Familial

MedlinePlus: ⁴¹ Your adrenal glands are just above your kidneys. The outside layer of these glands makes hormones that help your body respond to stress and regulate your blood pressure and water and salt balance. Addison disease happens if the adrenal glands don't make enough of these hormones. A problem with your immune system usually causes Addison disease. The immune system mistakenly attacks your own tissues, damaging your adrenal glands. Other causes include infections and cancer. Symptoms include: Weight loss Muscle weakness Fatigue that gets worse over time Low blood pressure Patchy or dark skin Lab tests can confirm that you have Addison disease. If you don't treat it, it can be fatal. You will need to take hormone pills for the rest of your life. If you have Addison disease, you should carry an emergency ID. It should say that you have the disease, list your medicines and say how much you need in an emergency. NIH: National Institute of Diabetes and Digestive and Kidney Diseases

MalaCards based summary: Hypoadrenocorticism, Familial, also known as addison disease, is related to intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies and autoimmune polyendocrine syndrome, type ii. An important gene associated with Hypoadrenocorticism, Familial is ABCD1 (ATP Binding Cassette Subfamily D Member 1), and among its related pathways/superpathways are Metabolism and Diseases of glycosylation. The drugs Racepinephrine and Tetracosactide have been mentioned in the context of this disorder. Affiliated tissues include adrenal gland, adrenal cortex and cortex, and related phenotypes are decreased circulating cortisol level and failure to thrive

GARD: ¹⁹ Addison's disease occurs when the adrenal glands do not produce enough (or any) of the hormones, cortisol and aldosterone. These adrenal gland hormones are necessary for balancing water and energy in the body. Symptoms usually develop slowly over time, and may include fatigue, loss of appetite, abdominal pain, and dark patches of skin. Sometimes symptoms occur suddenly causing a condition called acute adrenal failure, also known as an acute adrenal crisis. Symptoms of an acute adrenal crisis include sudden weakness, pain, and fainting. The most common cause of Addison's disease is an abnormal response of the body's immune system. Injury to the adrenal gland can also cause Addison's disease. Diagnosis is based on the the symptoms, blood and urine tests that evaluate adrenal function, and imaging studies.

Orphanet: ⁵⁸ A chronic and rare endocrine disorder due to autoimmune destruction of the adrenal cortex and resulting in a glucocorticoid and mineralocorticoid deficiency. Properly speaking, it designates autoimmune adrenalitis, but it is a term commonly used to describe any form of chronic primary adrenal insufficiency (CPAI).

Disease Ontology: ¹¹ An adrenal cortical hypofunction that is characterized by insufficient steroid hormone production by the adrenal glands.

Wikipedia ⁷⁵ Addison's disease: Addison's disease, also known as primary adrenal insufficiency, is a rare long-term endocrine disorder... more...

Adrenal gland hypofunction: Adrenal insufficiency is a condition in which the adrenal glands do not produce adequate amounts of... more...

Adrenal hypoplasia: X-linked adrenal hypoplasia congenita is a genetic disorder that mainly affects males. It involves many... more...

More information from OMIM: 240200

Sources

Related Diseases for Hypoadrenocorticism, Familial

Diseases related to Hypoadrenocorticism, Familial via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 715)

#	Related Disease	Score	Top Affiliating Genes
1	intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies	32.8	NR5A1 NR0B1 MC2R GK CYP11A1
2	autoimmune polyendocrine syndrome, type ii	32.8	PTPN22 POMC AIRE
3	autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia	32.6	DDC CYP21A2 CYP17A1 CYP11A1 AIRE
4	adrenal hypoplasia, congenital	32.5	STAR POMC NR5A1 NR0B1 MC2R HSD3B2
5	chromosome xp21 deletion syndrome	32.3	NR0B1 GK
6	glycerol kinase deficiency	32.1	POMC NR5A1 NR0B1 GK
7	pernicious anemia	32.0	TPO TG PTPN22 AIRE
8	premature ovarian failure 7	31.6	POMC NR5A1 CRH
9	vitiligo-associated multiple autoimmune disease susceptibility 1	31.4	TPO TG PTPN22 POMC DDC CTLA4
10	acute adrenal insufficiency	31.1	POMC CYP21A2 CYP11A1
11	hypogonadotropic hypogonadism	30.9	STAR POMC NR5A1 NR0B1 HSD3B2 CYP21A2
12	pituitary-dependent cushing's disease	30.9	POMC MC2R CRH
13	premature menopause	30.8	TPO TG STAR REN POMC NR5A1
14	hyperthyroidism	30.8	TPO TG REN POMC CTLA4
15	nelson syndrome	30.6	POMC CRH
16	turner syndrome	30.6	TPO TG PTPN22 NR0B1 CYP21A2
17	graves disease 1	30.5	TPO TG POMC
18	hypoaldosteronism	30.5	REN POMC
19	type 1 diabetes mellitus	30.5	TPO TG PTPN22 CTLA4 AP4B1-AS1 AIRE
20	temporal arteritis	30.5	PTPN22 POMC CTLA4
21	adrenal gland disease	30.5	STAR REN POMC NR5A1 NR0B1 MC2R
22	inappropriate adh syndrome	30.5	REN POMC CRH
23	46,xy sex reversal 2	30.4	STAR NR5A1 NR0B1 MC2R HSD3B2 CYP21A2
24	hypoparathyroidism	30.4	TPO CTLA4 AIRE
25	graves ophthalmopathy	30.4	TG CTLA4
26	sheehan syndrome	30.4	POMC CRH
27	thyroid crisis	30.3	TPO TG POMC
28	autoimmune disease	30.3	TPO TG PTPN22 DDC CTLA4 AIRE
29	hypokalemia	30.3	REN POMC CYP17A1 CRH
30	autoimmune hepatitis	30.3	TPO PTPN22 DDC CTLA4 AIRE
31	graves' disease	30.3	TPO TG PTPN22 CTLA4 AIRE
32	pure autonomic failure	30.3	REN DDC
33	alopecia areata	30.2	TPO PTPN22 CTLA4 AIRE
34	thyroiditis	30.2	TPO TG PTPN22 CTLA4 AIRE
35	myxedema	30.2	TPO TG POMC CTLA4
36	hypothyroidism	30.1	TPO TG REN PTPN22 POMC CTLA4
37	myasthenia gravis	30.1	PTPN22 CTLA4 AIRE
38	central pontine myelinolysis	30.1	REN POMC
39	hypothalamic disease	30.1	POMC CRH
40	hashimoto thyroiditis	30.1	TPO TG PTPN22 CTLA4 AP4B1-AS1 AIRE
41	melancholia	30.1	POMC CRH
42	celiac disease 1	30.1	TPO TG PTPN22 CYP21A2 CTLA4 AIRE
43	hypospadias	30.0	NR5A1 HSD3B2 CYP17A1 CYP11A1
44	autoimmune polyendocrine syndrome	30.0	TG PTPN22 CYP11A1 AIRE
45	achalasia-addisonianism-alacrima syndrome	30.0	POMC NR0B1 MC2R CYP11A1
46	adult syndrome	30.0	REN POMC CRH
47	cryptorchidism, unilateral or bilateral	29.9	STAR POMC NR5A1 NR0B1 HSD3B2 CYP21A2
48	amenorrhea	29.9	POMC NR5A1 CYP17A1 CRH
49	acne	29.9	POMC CYP21A2 CYP17A1 CRH
50	acth deficiency, isolated	29.9	POMC CRH

Graphical network of the top 20 diseases related to Hypoadrenocorticism, Familial:

Sources

Symptoms & Phenotypes for Hypoadrenocorticism, Familial

Human phenotypes related to Hypoadrenocorticism, Familial:

³⁰ ⁵⁸ (show top 50) (show all 57)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	decreased circulating cortisol level ³⁰	Obligate (100%)		HP:0008163
2	failure to thrive ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0001508
3	nausea and vomiting ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0002017
4	constipation ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0002019
5	muscle weakness ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0001324
6	fatigue ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0012378
7	abdominal pain ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0002027
8	anorexia ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0002039
9	weight loss ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0001824
10	diarrhea ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0002014
11	hyperpigmentation of the skin ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0000953
12	increased circulating acth level ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0003154
13	hyperuricemia ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0002149
14	hyponatremia ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0002902
15	hyperkalemia ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0002153
16	decreased circulating aldosterone level ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0004319
17	normocytic anemia ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0001897
18	renal salt wasting ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0000127
19	increased circulating renin level ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0000848
20	decreased urinary potassium ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0012364
21	hyperkalemic metabolic acidosis ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0005976
22	androgen insufficiency ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0008226
23	seizure ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0001250
24	delayed puberty ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0000823
25	type i diabetes mellitus ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0100651
26	hypoglycemia ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0001943
27	dry skin ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0000958
28	premature ovarian insufficiency ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0008209
29	hashimoto thyroiditis ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0000872
30	vitiligo ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0001045
31	celiac disease ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0002608
32	vertigo ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0002321
33	arthralgia ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0002829
34	hypoparathyroidism ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0000829
35	hypercalcemia ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0003072
36	orthostatic hypotension ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0001278
37	sparse axillary hair ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0002215
38	adrenal hypoplasia ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0000835
39	adrenal calcification ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0010512
40	decreased female libido ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0030018
41	salt craving ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0030083
42	generalized bone demineralization ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0006462
43	thymoma ⁵⁸ ³⁰	Very rare (1%)	Very rare (<4-1%)	HP:0100522
44	thiamine-responsive megaloblastic anemia ⁵⁸ ³⁰	Very rare (1%)	Very rare (<4-1%)	HP:0004860
45	primary testicular failure ⁵⁸ ³⁰	Very rare (1%)	Very rare (<4-1%)	HP:0008720
46	hypotension ⁵⁸		Very frequent (99-80%)
47	feeding difficulties in infancy ³⁰			HP:0008872
48	vomiting ³⁰			HP:0002013
49	abnormality of the cardiovascular system ³⁰			HP:0001626
50	autoimmunity ⁵⁸		Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Abdomen Gastrointestinal:
vomiting
feeding difficulties

Endocrine Features:
adrenal hypoplasia
adrenal insufficiency
adrenal aplasia

Skin Nails Hair Skin:
neonatal cyanosis
pigmentation

Respiratory:
neonatal episodic apnea

Laboratory Abnormalities:
hypoglycemia
hyponatremia
hyperkalemia

Neurologic Central Nervous System:
seizures

Cardiovascular Vascular:
vascular collapse

Clinical features from OMIM®:

240200 (Updated 08-Dec-2022)

GenomeRNAi Phenotypes related to Hypoadrenocorticism, Familial according to GeneCards Suite gene sharing:

²⁵

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Reduced mammosphere formation	GR00396-S	9.17	ABCD1 CYP21A2 HSD3B2 MC2R NR0B1 POMC

MGI Mouse Phenotypes related to Hypoadrenocorticism, Familial:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	homeostasis/metabolism	MP:0005376	10.36	ABCD1 AIRE CRH CTLA4 CYP11A1 CYP17A1
2	growth/size/body region	MP:0005378	10.28	AIRE CRH CYP11A1 CYP17A1 CYP21A2 DDC
3	endocrine/exocrine gland	MP:0005379	10.21	ABCD1 AIRE CRH CTLA4 CYP11A1 GK
4	nervous system	MP:0003631	10.2	ABCD1 AIRE CRH CYP11A1 DDC GK
5	behavior/neurological	MP:0005386	10.17	ABCD1 AIRE CRH CYP11A1 CYP17A1 CYP21A2
6	immune system	MP:0005387	10.07	ABCD1 AIRE CRH CTLA4 CYP11A1 CYP21A2
7	reproductive system	MP:0005389	9.9	ABCD1 AIRE CYP11A1 CYP17A1 DDC GK
8	hematopoietic system	MP:0005397	9.77	ABCD1 AIRE CRH CTLA4 CYP11A1 CYP21A2
9	mortality/aging	MP:0010768	9.5	ABCD1 AIRE CTLA4 CYP11A1 CYP17A1 CYP21A2

Sources

Drugs & Therapeutics for Hypoadrenocorticism, Familial

Drugs for Hypoadrenocorticism, Familial (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 34)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Racepinephrine

Approved, Vet_approved

Phase 4

51-43-4, 329-65-7

838 5816

Tetracosactide

Approved

Phase 4

16960-16-0

16133802 16129617

Dexamethasone acetate

Approved, Investigational, Vet_approved

Phase 4

1177-87-3

3680

Dexamethasone

Approved, Investigational, Vet_approved

Phase 4

50-02-2

3003 5743

Prednisone

Approved, Vet_approved

Phase 4

53-03-2

5865

Hydrocortisone succinate

Approved

Phase 4

2203-97-6

3643

Hydrocortisone acetate

Approved, Vet_approved

Phase 4

50-03-3

Hydrocortisone

Approved, Vet_approved

Phase 4

50-23-7

3640 5754

Betamethasone

Approved, Vet_approved

Phase 4

378-44-9

9782

Cortisone

Experimental

Phase 4

53-06-5

222786

Epinephryl borate

Phase 4

Hormones

Phase 4

Hormone Antagonists

Phase 4

Antineoplastic Agents, Hormonal

Phase 4

Anti-Inflammatory Agents

Phase 4

Hydrocortisone-17-butyrate

Phase 4

Hydrocortisone 17-butyrate 21-propionate

Phase 4

glucocorticoids

Phase 4

Anti-Asthmatic Agents

Phase 4

Respiratory System Agents

Phase 4

Prasterone

Approved, Investigational, Nutraceutical

Phase 3

53-43-0

5881

Insulin, Globin Zinc

Phase 2, Phase 3

Insulin

Phase 2, Phase 3

DHEA (Dehydroepiandrosterone)

Phase 3

Adjuvants, Immunologic

Phase 3

Immunologic Factors

Phase 3

Licorice

Approved

Glycyrrhizic acid

Approved, Experimental

1405-86-3

3495 14982

Pharmaceutical Solutions

Grapefruit Seed Extract

Corticotropin-Releasing Hormone

Melanocyte-Stimulating Hormones

Adrenocorticotropic Hormone

beta-Endorphin

Interventional clinical trials:

(show all 28)

#	Name	Status	NCT ID	Phase	Drugs
1	A Randomized, Controlled, Multi-Centre Trial on the Effects of Dual-release Hydrocortisone Preparations Versus Conventional Glucocorticoid Replacement Therapy in Patients Affected by Primary and Secondary Adrenal Insufficiency. DREAM Trial.	Completed	NCT02277587	Phase 4	Plenadren;Conventional glucocorticoid therapy
2	Dexamethasone-suppression-test Predicts Later Development of Adrenal Insufficiency After a 14 Days' Course of Prednisone in Healthy Volunteers	Completed	NCT00975078	Phase 4	prednisone
3	Revival of Autochthonous Adrenocortical Stem Cells in Autoimmune Addison's Disease	Completed	NCT01371526	Phase 4	depot tetracosactide
4	A Dose-response Study of Markers of Glucocorticoid Effects (DOSCORT): A Double-blinded, Randomized, 2-dose, Cross-over Study	Recruiting	NCT03210545	Phase 4	Betamethasone
5	An Open Label Pilot Study to Investigate the Effects of Two Preparations of Hydrocortisone (Hydrocortisone 100mg/ml and Solu-Cortef) Injected Intramuscularly Into the Deltoid and Upper Thigh Muscle During the State of Hypocortisolaemia	Recruiting	NCT05350020	Phase 4	Solu-Cortef 100 MG Injection;Hydrocortisone 100mg/ml
6	Phase III Randomized, Double-Blind, Placebo-Controlled Study of Dehydroepiandrosterone Replacement for Primary Adrenal Insufficiency	Completed	NCT00004313	Phase 3	dehydroepiandrosterone
7	Glucocorticoid Treatment in Addison's Disease	Completed	NCT01063569	Phase 2, Phase 3	Solu-Cortef (hydrocortisone);Cortef (hydrocortisone)
8	Ultradian Subcutaneous Hydrocortisone Infusion in Addison Disease and Congenital Adrenal Hyperplasia	Unknown status	NCT02096510	Phase 1, Phase 2	Solu-Cortef;Cortef
9	Effect of Cortisol on Physical Exertion in Patients With Primary Adrenal	Unknown status	NCT01847690	Phase 2	Hydrocortisone
10	Continuous Subcutaneous Hydrocortisone Infusion In Addison's Disease and Type 1 Diabetes	Completed	NCT01840189	Phase 2
11	Pharmacokinetics of Hydrocortisone After Subcutaneous Administration Compared With Intramuscular Injection in Chronic Adrenal Insufficiency	Completed	NCT01450930	Phase 2	Hydrocortisone intramuscular first;Hydrocortisone subcutaneously first
12	A Double-Blind, Double-Dummy, Two-Way Cross-Over, Randomised, Phase II Study of Efficacy, Safety and Tolerability of Modified-Release Hydrocortisones: Chronocort® Versus Plenadren®, in Adrenal Insufficiency	Recruiting	NCT05222152	Phase 2	Chronocort;Plenadren
13	Effect of Hydrocortisone Stress Dose on Exercise Capacity and Post-exercise Recovery in Patients With Addison's Disease	Unknown status	NCT01657123
14	Prospective Evaluation of Adrenal Function After Living Donor Nephrectomy With or Without Ligation of the Adrenal Vein	Completed	NCT00251836
15	Determining the Association Between Spontaneous Coronary Artery Dissection (SCAD) and Autoimmunity	Completed	NCT03941184
16	Protein/Metabolite Biomarker(s) for Glucocorticoid Action; an Experimental Trial in Patients With Adrenal Insufficiency	Completed	NCT02152553		Hydrocortisone;Placebo
17	Use of Liquorice and Grapefruit in Patients With Addison's Disease	Completed	NCT01271296
18	Survey in Patients With Chronic Adrenal Insufficiency in Germany	Completed	NCT00444119
19	Cortisol, Central Obesity, and Insulin Resistance: Long Term Studies in Addison's Patients	Completed	NCT00688987		Hydrocortisone
20	Dose Response Relationship for Single Doses of Corticotropin Releasing Hormone (CRH) in Normal Volunteers and in Patients With Adrenal Insufficiency	Completed	NCT00001180		Ovine Corticotropin-Releasing Hormone (oCRH)
21	Counterregulatory Hormone Production and Cognitive Function in Patients With Adrenal Insufficiency and Diabetes Mellitus Type I	Completed	NCT01452893
22	Does Relative Hypoglycaemia &/or Sleep Disturbance Contribute to the Lethargy Observed in Addison's Disease	Recruiting	NCT05515055
23	Clinical Study on Circadian Genes Dysregulation in Patients With Glucocorticoid Disorders	Recruiting	NCT04374721
24	Coordination of Rare Diseases at Sanford	Recruiting	NCT01793168
25	Residual Secretion of Adrenal Steroid Hormones in Addison's Disease	Active, not recruiting	NCT03793114
26	Additional Autoimmune Diseases With Type 1 Diabetes in Children and Adolescents at Diabetes Diagnostic and During Follow-up : a Monocentric Study in France	Enrolling by invitation	NCT04789993
27	Growing up With the Young Endocrine Support System (YESS!): Innovative E-technology to Improve Transition From Paediatric to Adult Care	Not yet recruiting	NCT04252001
28	Investigation of Gene Polymorphisms Influencing Steroid Synthesis and Action in Patients With Deficient Steroid Biosynthesis and Disorders of Sex Development	Withdrawn	NCT00485186

Search NIH Clinical Center for Hypoadrenocorticism, Familial

Inferred drug relations via UMLS ⁷¹ / NDF-RT ⁵⁰ :

Cortisone

cortisone acetate

Dexamethasone

dexamethasone acetate

DEXAMETHASONE ACETATE PWDR

Dexamethasone phosphate

Dexamethasone sodium phosphate

DEXAMETHASONE SODIUM PHOSPHATE PWDR

Fludrocortisone

fluorocortisol acetate

Hydrocortisone

hydrocortisone acetate

HYDROCORTISONE ACETATE PWDR

HYDROCORTISONE ACETONIDE

Hydrocortisone butyrate

hydrocortisone cypionate

hydrocortisone probutate

HYDROCORTISONE PWDR

Hydrocortisone sodium phosphate

Hydrocortisone sodium succinate

hydrocortisone valerate

HYDROCORTISONE,NONSTERILE PWDR

prasterone

prednisolone

prednisolone acetate

PREDNISOLONE ACETATE PWDR

PREDNISOLONE PWDR

Prednisolone sodium phosphate

prednisolone tebutate

Prednisone

PREDNISONE PWDR

Triamcinolone

Triamcinolone Acetonide

TRIAMCINOLONE ACETONIDE PWDR

triamcinolone diacetate

triamcinolone hexacetonide

Cochrane evidence based reviews: addison disease

Sources

Genetic Tests for Hypoadrenocorticism, Familial

Genetic tests related to Hypoadrenocorticism, Familial:

#	Genetic test	Affiliating Genes
1	Primary Adrenocortical Insufficiency ²⁸

Sources

Anatomical Context for Hypoadrenocorticism, Familial

Organs/tissues related to Hypoadrenocorticism, Familial:

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

Sources

Publications for Hypoadrenocorticism, Familial

Articles related to Hypoadrenocorticism, Familial:

(show top 50) (show all 4563)

#	Title	Authors	PMID	Year
1	Mutation screening of PTPN22: association of the 1858T-allele with Addison's disease. ⁵³ ⁶² ⁵⁷ ⁵	Skinningsrud B...Undlien DE	18301444	2008
2	Autoimmune-associated lymphoid tyrosine phosphatase is a gain-of-function variant. ⁵³ ⁶² ⁵	Vang T...Bottini N	16273109	2005
3	Microsatellite polymorphism of the MHC class I chain-related (MIC-A and MIC-B) genes marks the risk for autoimmune Addison's disease. ⁵³ ⁶² ⁵⁷	Gambelunghe G...Sanjeevi CB	10523017	1999
4	Familial congenital adrenal hypoplasia. ⁶² ⁵⁷	O'Donohoe NV...Holland PD	5702233	1968
5	Addison's disease in two brothers. ⁶² ⁵⁷	MEAKIN JW...THORN GW	13654502	1959
6	Congenital adrenal hypoplasia in siblings. ⁶² ⁵⁷	MITCHELL RG...RHANEY K	13632060	1959
7	Familial occurrence of Addison's disease. ⁶² ⁵⁷	BROCHNER-MORTENSEN K	13381433	1956
8	Addison's disease: familial incidence and occurence in association with pernicious anemia. ⁶² ⁵⁷	BERLIN R	13007404	1952
9	Insilico prediction and functional analysis of nonsynonymous SNPs in human CTLA4 gene. ⁶² ⁴¹	Irfan M...Bhatti A	36443461	2022
10	Repeatability assessment of sodium (23Na) MRI at 7.0 T in healthy human calf muscle and preliminary results on tissue sodium concentrations in subjects with Addison's disease. ⁶² ⁴¹	Zaric O...Juras V	36266679	2022
11	The autoimmune disease-associated PTPN22 variant promotes calpain-mediated Lyp/Pep degradation associated with lymphocyte and dendritic cell hyperresponsiveness. ⁵	Zhang J...Siminovitch KA	21841778	2011
12	Specific interaction between genotype, smoking and autoimmunity to citrullinated alpha-enolase in the etiology of rheumatoid arthritis. ⁵	Mahdi H...Lundberg K	19898480	2009
13	Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes. ⁵	Barrett JC...Type 1 Diabetes Genetics Consortium	19430480	2009
14	Cutting edge: the PTPN22 allelic variant associated with autoimmunity impairs B cell signaling. ⁵	Arechiga AF...Buckner JH	19265110	2009
15	Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci. ⁵	Cooper JD...Todd JA	18978792	2008
16	Genetic variation in PTPN22 corresponds to altered function of T and B lymphocytes. ⁵	Rieck M...Buckner JH	17878369	2007
17	Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. ⁵	Wellcome Trust Case Control Consortium	17554300	2007
18	Gene-gene and gene-environment interactions involving HLA-DRB1, PTPN22, and smoking in two subsets of rheumatoid arthritis. ⁵	Kallberg H...Epidemiological Investigation of Rheumatoid Arthritis study group	17436241	2007
19	Investigation of genetic variation across the protein tyrosine phosphatase gene in patients with rheumatoid arthritis in the UK. ⁵	Hinks A...Worthington J	17170052	2007
20	Evidence for susceptibility determinant(s) to psoriasis vulgaris in or near PTPN22 in German patients. ⁵	Huffmeier U...Reis A	16339849	2006
21	Systematic search for single nucleotide polymorphisms in a lymphoid tyrosine phosphatase gene (PTPN22): association between a promoter polymorphism and type 1 diabetes in Asian populations. ⁵	Kawasaki E...Eguchi K	16470599	2006
22	Analysis of families in the multiple autoimmune disease genetics consortium (MADGC) collection: the PTPN22 620W allele associates with multiple autoimmune phenotypes. ⁵	Criswell LA...Gregersen PK	15719322	2005
23	Confirmation of the association of the R620W polymorphism in the protein tyrosine phosphatase PTPN22 with type 1 diabetes in a family based study. ⁵	Qu H...Polychronakos C	15744042	2005
24	The R620W polymorphism of the protein tyrosine phosphatase PTPN22 is not associated with multiple sclerosis. ⁵	Begovich AB...Oksenberg JR	15580548	2005
25	Genetic association of the R620W polymorphism of protein tyrosine phosphatase PTPN22 with human SLE. ⁵	Kyogoku C...Behrens TW	15273934	2004
26	A missense single-nucleotide polymorphism in a gene encoding a protein tyrosine phosphatase (PTPN22) is associated with rheumatoid arthritis. ⁵	Begovich AB...Gregersen PK	15208781	2004
27	A functional variant of lymphoid tyrosine phosphatase is associated with type I diabetes. ⁵	Bottini N...Mustelin T	15004560	2004
28	Identification of mutations in the putative ATP-binding domain of the adrenoleukodystrophy gene. ⁵	Fanen P...Aubourg P	8040304	1994
29	Adrenal Cortical Hypoplasia in Siblings. ⁵⁷	Boyd JF...Macdonald AM	21032374	1960
30	Clinical manifestations and associated factors in acquired hypoaldosteronism in endocrinological practice. ⁴¹	Ruiz-Sanchez JG...Runkle I	36303866	2022
31	Clinical and genetic heterogeneity of congenital adrenal hypoplasia due to NR0B1 gene mutations. ⁵³ ⁶²	Landau Z...Anikster Y	19508677	2010
32	Cytotoxic T lymphocyte antigen-4 Ala17 polymorphism is a genetic marker of autoimmune adrenal insufficiency: Italian association study and meta-analysis of European studies. ⁵³ ⁶²	Brozzetti A...Italian Addison Network	19884265	2010
33	Isolated Addison's disease is unlikely to be caused by mutations in MC2R, MRAP or STAR, three genes responsible for familial glucocorticoid deficiency. ⁵³ ⁶²	Dias RP...Clark AJ	19903795	2010
34	Homozygosity of the polymorphism MICA5.1 identifies extreme risk of progression to overt adrenal insufficiency among 21-hydroxylase antibody-positive patients with type 1 diabetes. ⁵³ ⁶²	Triolo TM...Barker JM	19820007	2009
35	X-linked congenital adrenal hypoplasia with hypogonadotropic hypogonadism caused by an inversion disrupting a conserved noncoding element upstream of the NR0B1 (DAX1) gene. ⁵³ ⁶²	Skinningsrud B...Undlien DE	19773398	2009
36	A novel mutation in DAX1 (NR0B1) causing X-linked adrenal hypoplasia congenita: clinical, hormonal and genetic analysis. ⁵³ ⁶²	Garcia-Malpartida K...Hernandez-Mijares A	19672728	2009
37	Immunology of Addison's disease and premature ovarian failure. ⁵³ ⁶²	Husebye ES...Lovas K	19328418	2009
38	Pathogenesis of primary adrenal insufficiency. ⁵³ ⁶²	Husebye E...Lovas K	19500759	2009
39	Dax-1 and steroid receptor RNA activator (SRA) function as transcriptional coactivators for steroidogenic factor 1 in steroidogenesis. ⁵³ ⁶²	Xu B...Koenig RJ	19188450	2009
40	The tryptophan 620 allele of the lymphoid tyrosine phosphatase (PTPN22) gene predisposes to autoimmune Addison's disease. ⁵³ ⁶²	Roycroft M...Pearce S	18710467	2009
41	Late-onset adrenal hypoplasia congenita caused by a novel mutation of the DAX-1 gene. ⁵³ ⁶²	Yang F...Kanzaki S	18607630	2009
42	[A novel mutation of 428delG in DAX-1 gene causing X-linked adrenal congenital hypoplasia]. ⁵³ ⁶²	Xu M...Zhou XH	19199243	2009
43	X-linked adrenal hypoplasia congenita caused by a novel intronic mutation of the DAX-1 gene. ⁵³ ⁶²	Goto M...Katsumata N	19129717	2009
44	A case of X-linked adrenal hypoplasia congenita, central precocious puberty and absence of the DAX-1 gene: implications for pubertal regulation. ⁵³ ⁶²	Loke KY...Lai PS	19339795	2009
45	Plasma alpha-melanocyte-stimulating hormone: sex differences and correlations with obesity. ⁵³ ⁶²	Donahoo WT...Eckel RH	19059526	2009
46	Novel homozygous AIRE mutation in a German patient with severe APECED. ⁵³ ⁶²	von Schnurbein J...Wabitsch M	19209622	2008
47	Skewed X inactivation is associated with phenotype in a female with adrenal hypoplasia congenita. ⁵³ ⁶²	Shaikh MG...Clayton PE	18762570	2008
48	Autoimmune polyendocrine syndrome type I in Slovakia: relevance of screening patients with autoimmune Addison's disease. ⁵³ ⁶²	F Magitta N...Husebye ES	18426830	2008
49	Clinical and genetic analysis of a Korean patient with late-onset X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism: identification of a novel mutation in the NR0B1 gene. ⁵³ ⁶²	Lee YW...Kim CH	18380948	2008
50	Four Japanese patients with adrenal hypoplasia congenita and hypogonadotropic hypogonadism caused by DAX-1 gene mutations: mutant DAX-1 failed to repress steroidogenic acute regulatory protein (StAR) and luteinizing hormone beta-subunit gene promoter activity. ⁵³ ⁶²	Okuhara K...Tajima T	18202527	2008

Sources

Genes for Hypoadrenocorticism, Familial

Genes related to Hypoadrenocorticism, Familial (1 elite genes):

(show all 28)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	ABCD1	ATP Binding Cassette Subfamily D Member 1	Protein Coding	414.91	Pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³	8040304 17532287 7717396
2	PTPN22	Protein Tyrosine Phosphatase Non-Receptor Type 22	Protein Coding	41.86	Risk factor ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³	15004560 15208781 15273934 (more) 15580548 15719322 15744042 16273109 16470599 17436241 16339849 17554300 17170052 17878369 18301444 19430480 18978792 19898480 19265110 21841778 18710467 19209622 19500759
3	AP4B1-AS1	AP4B1 Antisense RNA 1	RNA Gene	25	Risk factor ⁵	15004560 15208781 15273934 (more) 15580548 15719322 15744042 16273109 16470599 17436241 16339849 17554300 17170052 17878369 18301444 19430480 18978792 19898480 19265110 21841778
4	AIRE	Autoimmune Regulator	Protein Coding	19.35	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	11298085 10920386 11916620 (more) 10634424 18200029 10690877 18426830 19209622
5	NR0B1	Nuclear Receptor Subfamily 0 Group B Member 1	Protein Coding	17.66	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	18339285 16355812 18038713 (more) 10341858 18607630 16709599 9032275 8630494 9360549 12775766 11748841 8855822 8593542 8570694 19339795 19129717 17054473 11748852 9415399 9195207 7609262 17202731 18380948 15860922 10022408 16684822 7761436 9529340 9709728 10361383 8770879 10689635 9508067 9232190 8756567 18762570 15841486 16061826 15800903 14580722 11136554 17686645 16901926 16645015 11738790 11549627 11301600 10727999 10599708 11788621 16388085 16232195 15464421 14567960 12813911 11592565 11459805 11443184 10931089 10527669 10446902 7677767 19199243 9384387 18406261 18202527 17191030 16840536 11857932 10599709 9566914 19508677 19773398 17803711 15985477 15940915 15084237 12213901 8791510 7990958 19672728 19188450 17223989 16553032 15884018 15589120 12940459 12727988 12700175 12519885 11113848 10656994 10412368 10403575 8921887 8844218 8701082 10675358 10713076
6	CYP21A2	Cytochrome P450 Family 21 Subfamily A Member 2	Protein Coding	17.48	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	9920103 8106620 14616882 (more) 7673419 10572219 9062510 10022426 8959085 7962352 9486414 9030873 1351548 10523017 1511745 15793184 15483092 7513715 14764761 9768655 9000040 7882511 8405426 11337910 10664529 9062509 19500759 18088406 15859562 11158030 19328418 10376448 9973524 18493131 15747502 10931087 10851284 9794898 7523005 7916911 16322402 19820007 8003612 1353582 16485216 9141530 14713279
7	POMC	Proopiomelanocortin	Protein Coding	16.71	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	19059526 8013139 18493131 (more) 17712724 15564334 1320051 12632819 8954027 17986825 9040976 11549627 2170722 1330381 1973178 1323248 8380605
8	NR5A1	Nuclear Receptor Subfamily 5 Group A Member 1	Protein Coding	15.23	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	11748841 14580722 16684822 (more) 12530669 12727988 15604207 17223989 19188450 15985477 16962294 11427738 12813911
9	TPO	Thyroid Peroxidase	Protein Coding	14.8	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	10520899 16411065 15793184
10	CYP11A1	Cytochrome P450 Family 11 Subfamily A Member 1	Protein Coding	14.15	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	8106620 8626850 10852471 (more) 7523005 15747502
11	CTLA4	Cytotoxic T-Lymphocyte Associated Protein 4	Protein Coding	14.11	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	9398726 10197076 15240634 (more) 15621571 10215771 19884265 10690877 19209622 19500759
12	STAR	Steroidogenic Acute Regulatory Protein	Protein Coding	13.78	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	12727988 18202527 16901926 (more) 17400803
13	MC2R	Melanocortin 2 Receptor	Protein Coding	13.74	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	8396577 17223989 19903795
14	DDC	Dopa Decarboxylase	Protein Coding	13.16	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	10634424 17200166 18088406
15	TG	Thyroglobulin	Protein Coding	12.51	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	15793184 7734032
16	CRH	Corticotropin Releasing Hormone	Protein Coding	12.5	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	9274696 7600682 8380605 (more) 8013139
17	CYP17A1	Cytochrome P450 Family 17 Subfamily A Member 1	Protein Coding	12.48	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	8106620 10852471 7916911 (more) 7523005 15747502
18	REN	Renin	Protein Coding	11.76	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	1320051 8388783
19	HSD3B2	Hydroxy-Delta-5-Steroid Dehydrogenase, 3 Beta- And Steroid Delta-Isomerase 2	Protein Coding	10.97	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	15632317
20	GK	Glycerol Kinase	Protein Coding	10.97	Novoseek inferred ⁵³	1601004 8314578 1999345 (more) 8033374 1612605 7752004 7573140 1301166 17937854 2081587 9302256 1505987 2227145 16025401 15684452 9266403 11032329 19078586 2240031
21	TPH1	Tryptophan Hydroxylase 1	Protein Coding	10.84	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	18088406
22	CYP11B2	Cytochrome P450 Family 11 Subfamily B Member 2	Protein Coding	10.04	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	9300202
23	CYP27B1	Cytochrome P450 Family 27 Subfamily B Member 1	Protein Coding	10	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	15956353 15296474
24	GK2	Glycerol Kinase 2	Protein Coding	9.93	Novoseek inferred ⁵³	8314578 2081587
25	IL1RAPL1	Interleukin 1 Receptor Accessory Protein Like 1	Protein Coding	9.85	Novoseek inferred ⁵³	12940459
26	CRHBP	Corticotropin Releasing Hormone Binding Protein	Protein Coding	9.72	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	7889116 2169481
27	ESRRB	Estrogen Related Receptor Beta	Protein Coding	8.93	Novoseek inferred ⁵³	9032275 17054473 11427738 (more) 15464421 16232195 16388085
28	CCR6	C-C Motif Chemokine Receptor 6	Protein Coding	8.59	DISEASES inferred ¹⁴ ¹⁴

Sources

Variations for Hypoadrenocorticism, Familial

ClinVar genetic disease variations for Hypoadrenocorticism, Familial:

⁵

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	ABCD1	NM_000033.4(ABCD1):c.1820del (p.Gly607fs)	DEL	Pathogenic	11311		GRCh37: X:153008478-153008478 GRCh38: X:153743024-153743024
2	ABCD1	NM_000033.4(ABCD1):c.1817C>T (p.Ser606Leu)	SNV	Pathogenic	11310	rs128624225	GRCh37: X:153008477-153008477 GRCh38: X:153743023-153743023
3	AP4B1-AS1, PTPN22	NM_015967.8(PTPN22):c.1858= (p.Trp620=)	SNV	Risk Factor	8909	rs2476601	GRCh37: 1:114377568-114377568 GRCh38: 1:113834946-113834946
4	TBX19	NM_005149.3(TBX19):c.477G>C (p.Leu159Phe)	SNV	Uncertain Significance	633476	rs1558190989	GRCh37: 1:168262390-168262390 GRCh38: 1:168293152-168293152
5	TBX19	NM_005149.3(TBX19):c.210G>T (p.Met70Ile)	SNV	Uncertain Significance	633477	rs1558190316	GRCh37: 1:168260404-168260404 GRCh38: 1:168291166-168291166

Copy number variations for Hypoadrenocorticism, Familial from CNVD:

⁶

#	CNVD ID	Chromosome	Start	End	Type	Gene Symbol	CNVD Disease
1	17293	1	142400000	148000000	Deletion	FCGR1CP	Addison''s disease

Sources

Expression for Hypoadrenocorticism, Familial

Search GEO for disease gene expression data for Hypoadrenocorticism, Familial.

Sources

Pathways for Hypoadrenocorticism, Familial

Pathways related to Hypoadrenocorticism, Familial according to GeneCards Suite gene sharing:

(show all 11)

#	Super pathways	Score	Top Affiliating Genes
1	Metabolism ⁶⁶ Show member pathways Metabolism of lipids ⁶⁶	13.52	TPO STAR POMC HSD3B2 GK DDC
2	Diseases of glycosylation ⁶⁶ Show member pathways Defective ALG1 causes CDG-1k ⁶⁶ Defective ALG11 causes CDG-1p ⁶⁶ Defective ALG12 causes CDG-1g ⁶⁶ Defective ALG14 causes ALG14-CMS ⁶⁶ Defective ALG2 causes CDG-1i ⁶⁶ Defective ALG3 causes CDG-1d ⁶⁶ Defective ALG6 causes CDG-1c ⁶⁶ Defective ALG8 causes CDG-1h ⁶⁶ Defective ALG9 causes CDG-1l ⁶⁶ Defective DPAGT1 causes CDG-1j, CMSTA2 ⁶⁶ Defective GNE causes sialuria, NK and IBM2 ⁶⁶ Defective MPDU1 causes CDG-1f ⁶⁶ Defective NEU1 causes sialidosis ⁶⁶ Defective RFT1 causes CDG-1n ⁶⁶ Diseases associated with glycosylation precursor biosynthesis ⁶⁶ Diseases associated with N-glycosylation of proteins ⁶⁶ Diseases of metabolism ⁶⁶ MPS IV - Morquio syndrome B ⁶⁶	12.45	POMC MC2R CYP21A2 CYP17A1 CYP11A1
3	Metabolism of steroids ⁶⁶ Show member pathways Activation of gene expression by SREBF (SREBP) ⁶⁶ allopregnanolone biosynthesis ⁶¹ androgen biosynthesis ⁶¹ Cholesterol synthesis disorders ⁷⁴ Defective CYP17A1 causes AH5 ⁶⁶ Regulation of cholesterol biosynthesis by SREBP (SREBF) ⁶⁶ Sterol regulatory element-binding proteins (SREBP) signaling ⁷⁴ Vitamin D (calciferol) metabolism ⁶⁶	12.29	STAR POMC HSD3B2 CYP21A2 CYP17A1 CYP11A1
4	Metabolism of steroid hormones ⁶⁶ Show member pathways Androgen biosynthesis ⁶⁶ Defective CYP11A1 causes AICSR ⁶⁶ Defective CYP11B1 causes AH4 ⁶⁶ Defective CYP21A2 causes AH3 ⁶⁶ Electron transport from NADPH to Ferredoxin ⁶⁶ Estrogen biosynthesis ⁶⁶ Glucocorticoid and Mineralcorticoid Metabolism ⁷⁴ Glucocorticoid biosynthesis ⁶⁶ Mineralocorticoid biosynthesis ⁶⁶ Pregnenolone biosynthesis ⁶⁶	11.42	STAR POMC HSD3B2 CYP21A2 CYP17A1 CYP11A1
5	Corticotropin-releasing hormone signaling pathway ⁷⁴	11.06	STAR POMC HSD3B2 CYP21A2 CYP11A1 CRH
6	Metabolic disorders of biological oxidation enzymes ⁶⁶	11.03	CYP11A1 CYP17A1 CYP21A2
7	Thyroxine (thyroid hormone) production ⁷⁴	10.8	TPO TG
8	Genes associated with the development of rheumatoid arthritis ⁷⁴	10.73	PTPN22 CTLA4
9	Alternative pathway of fetal androgen synthesis ⁷⁴	10.5	STAR HSD3B2 CYP17A1 CYP11A1
10	Classical pathway of steroidogenesis with glucocorticoid and mineralocorticoid metabolism ⁷⁴ Show member pathways Defective CYP11B2 causes CMO-1 deficiency ⁶⁶ progesterone biosynthesis ⁶¹	10.36	HSD3B2 CYP11A1
11	Glucocorticoid Pathway (HPA Axis), Pharmacodynamics ⁶⁰	10.28	POMC CRH

Sources

GO Terms for Hypoadrenocorticism, Familial

Biological processes related to Hypoadrenocorticism, Familial according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	regulation of steroid biosynthetic process	GO:0050810	9.76	STAR NR5A1
2	androgen biosynthetic process	GO:0006702	9.73	HSD3B2 CYP17A1
3	adrenal gland development	GO:0030325	9.73	CRH NR0B1 NR5A1
4	Sertoli cell differentiation	GO:0060008	9.71	NR5A1 NR0B1
5	hormone biosynthetic process	GO:0042446	9.63	TPO TG CYP17A1
6	steroid biosynthetic process	GO:0006694	9.61	STAR HSD3B2 CYP21A2 CYP17A1 CYP11A1
7	sex determination	GO:0007530	9.54	NR5A1 NR0B1
8	C21-steroid hormone metabolic process	GO:0008207	9.5	HSD3B2 CYP11A1
9	glucocorticoid biosynthetic process	GO:0006704	9.23	CYP21A2 CYP17A1 CYP11A1 CRH

Molecular functions related to Hypoadrenocorticism, Familial according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	heme binding	GO:0020037	9.56	TPO CYP21A2 CYP17A1 CYP11A1
2	oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	GO:0016705	8.8	CYP21A2 CYP17A1 CYP11A1