MCID: HYP780
MIFTS: 63

Hypoadrenocorticism, Familial

Categories: Blood diseases, Cancer diseases, Endocrine diseases, Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Hypoadrenocorticism, Familial

MalaCards integrated aliases for Hypoadrenocorticism, Familial:

Name: Hypoadrenocorticism, Familial 57 12
Addison Disease 57 12 53 59 37 43 44 73
Addison's Disease 12 76 53 6 15
Adrenal Hypoplasia 57 76 53 29
Adrenal Gland Hypofunction 53 73
Adrenal Aplasia 57 53
Addison Disease, Chronic Adrenal Insufficiency 12
Autoimmune Primary Adrenal Insufficiency 73
Addison's Disease Due to Autoimmunity 73
Primary Adrenocortical Insufficiency 12
Addison Disease, Susceptibility to 6
Hypoadrenocorticism Familial 53
Autoimmune Addison Disease 59
Classic Addison's Disease 59
Primary Addison's Disease 59
Primary Hypoadrenalism 12
Autoimmune Adrenalitis 59
Addisons Disease 55

Characteristics:

Orphanet epidemiological data:

59
addison disease
Prevalence: 1-5/10000,1-5/10000 (Europe); Age of onset: All ages; Age of death: any age;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
hypoadrenocorticism, familial:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare endocrine diseases


Summaries for Hypoadrenocorticism, Familial

NIH Rare Diseases : 53 Addison's disease is a chronic disease that occurs when the adrenal glands do not produce enough (or any) of the hormones cortisol and aldosterone. Symptoms can vary from person to person but usually develop slowly over time, and are often non-specific at first. However, sometimes symptoms occur suddenly and cause a life-threatening condition called acute adrenal failure, also known as an acute adrenal crisis or Addisonian crisis. Common symptoms of Addison's disease include fatigue, loss of appetite, and abdominal pain and nausea. Some people also experience mood or behavior changes. Other signs and symptoms of Addison's disease that may develop include dark patches of skin (hyperpigmentation), vitiligo, muscle weakness or pain, dehydration, and low blood pressure. An acute adrenal crisis is a medical emergency which can lead to shock or kidney failure if not treated promptly. A crisis may cause sudden weakness, severe pain (in the back, abdomen, or legs), vomiting and diarrhea, and low blood pressure which can lead to fainting. A crisis may  be triggered when a person with Addison's disease is under stress, such as during an accident, surgery, or severe illness. In most cases, Addison's disease is caused by damage to the adrenal cortex (the outer part of the adrenal gland) due to an autoimmune reaction. In these cases, a person may not develop symptoms for months or years. This may be referred to as autoimmune Addison's disease, or primary adrenal insufficiency. If the adrenal glands do not produce hormones despite being undamaged (such as due to ACTH deficiency), it is referred to as secondary adrenal insufficiency. Less common causes of Addison's disease include repeated infections, cancer that spreads to the adrenal glands, CMV associated with HIV/AIDS, and amyloidosis. Tuberculosis remains a major cause in developing countries, but is no longer a major cause in the United States. Rarely, Addison�??s disease runs in families and may be due to a genetic predisposition. Addison's disease may be diagnosed based on symptoms, blood and urine tests that evaluate adrenal function, chest X-rays, and/or a CT scan to look at the size and characteristics of the adrenal glands. Treatment ideally should  be managed by an endocrinologist who specializes in adrenal diseases. Daily treatment typically includes medicines (tablets) that replace the hormones cortisol and aldosterone. Treatment for an adrenal crisis may include intravenous hydrocortisone, fluids, and electrolytes, as well as drugs that normalize blood pressure. People with Addison's disease should carry a medical ID that states the disease and emergency instructions. An example is provided by the National Adrenal Diseases Foundation. With proper treatment and avoidance of dehydration, people with Addison's disease can avoid having crises and have a normal life expectancy.

MalaCards based summary : Hypoadrenocorticism, Familial, also known as addison disease, is related to adrenal hypoplasia, congenital and autoimmune addison disease. An important gene associated with Hypoadrenocorticism, Familial is ABCD1 (ATP Binding Cassette Subfamily D Member 1), and among its related pathways/superpathways are Aldosterone synthesis and secretion and Cushing syndrome. Affiliated tissues include adrenal gland, skin and testes, and related phenotypes are seizures and muscle weakness

Disease Ontology : 12 An adrenal cortical hypofunction that is characterized by insufficient steroid hormone production by the adrenal glands.

MedlinePlus : 43 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

Wikipedia : 76 Addison''s disease, also known as primary adrenal insufficiency and hypocortisolism, is a long-term... more...

Description from OMIM: 240200

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 154)
# Related Disease Score Top Affiliating Genes
1 adrenal hypoplasia, congenital 34.3 NR0B1 STAR
2 autoimmune addison disease 33.9 AIRE CTLA4 CYP21A2
3 autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia 32.5 AIRE CYP11A1 CYP21A2 DDC
4 achalasia-addisonianism-alacrima syndrome 32.0 MC2R POMC
5 autoimmune polyendocrine syndrome type 1 31.3 AIRE CYP21A2 DDC
6 hypoadrenalism 30.5 CRH POMC
7 familial glucocorticoid deficiency 30.3 MC2R NR0B1 POMC STAR
8 pyle disease 29.9 AIRE NR0B1
9 hypothyroidism 29.7 AIRE CTLA4 POMC TPO
10 thyroiditis 29.6 CTLA4 PTPN22 TPO
11 hashimoto thyroiditis 29.4 AIRE CTLA4 PTPN22 TPO
12 conn's syndrome 29.3 CRH CYP11A1 CYP21A2 MC2R POMC
13 adrenal adenoma 29.1 CRH CYP11A1 CYP21A2 MC2R POMC
14 lipoid congenital adrenal hyperplasia 29.0 CYP11A1 CYP21A2 MC2R NR0B1 POMC STAR
15 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies 12.6
16 intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies 12.5
17 cytomegalic congenital adrenal hypoplasia 12.3
18 adrenal hypoplasia, congenital, with absent pituitary luteinizing hormone 12.2
19 adrenal hypoplasia, cytomegalic type 12.1
20 nr0b1-related adrenal hypoplasia congenita 12.1
21 adrenoleukodystrophy 12.1
22 mirage syndrome 12.0
23 autoimmune polyendocrine syndrome, type ii 11.7
24 glycerol kinase deficiency 11.4
25 chromosome xp21 deletion syndrome 11.3
26 premature ovarian failure 1 11.3
27 adrenocortical hypofunction, chronic primary congenital 11.1
28 ritscher-schinzel syndrome 1 11.1
29 restrictive dermopathy, lethal 11.0
30 childhood-onset cerebral x-linked adrenoleukodystrophy 11.0
31 hypogonadism 10.5
32 hypogonadotropic hypogonadism 10.5
33 inherited isolated adrenal insufficiency due to partial cyp11a1 deficiency 10.4
34 46,xy sex reversal 2 10.2
35 vitiligo-associated multiple autoimmune disease susceptibility 6 10.2 AIRE PTPN22
36 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 10.2 CYP21A2 POMC
37 cytochrome p450 oxidoreductase deficiency 10.2 CYP21A2 POMC
38 type 1 diabetes mellitus 17 10.2 AIRE CTLA4
39 muscular dystrophy 10.2
40 pernicious anemia 10.1 AIRE TPO
41 glucocorticoid deficiency 1 10.1 MC2R POMC
42 luteoma 10.1 CYP21A2 STAR
43 sex differentiation disease 10.1 CYP21A2 POMC
44 muscular dystrophy, duchenne type 10.1
45 precocious puberty 10.1
46 vitiligo-associated multiple autoimmune disease susceptibility 1 10.1 AIRE CTLA4 PTPN22
47 hypothalamic disease 10.1 CRH POMC
48 myxedema 10.1 CTLA4 TPO
49 acute adrenal insufficiency 10.1 CYP11A1 CYP21A2 POMC
50 gangliocytoma 10.1 CRH POMC

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



Diseases related to Hypoadrenocorticism, Familial

Symptoms & Phenotypes for Hypoadrenocorticism, Familial

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures

Laboratory Abnormalities:
hypoglycemia
hyponatremia
hyperkalemia

Skin Nails Hair Skin:
pigmentation
neonatal cyanosis

Respiratory:
neonatal episodic apnea

Abdomen Gastrointestinal:
vomiting
feeding difficulties

Endocrine Features:
adrenal hypoplasia
adrenal insufficiency
adrenal aplasia

Cardiovascular Vascular:
vascular collapse


Clinical features from OMIM:

240200

Human phenotypes related to Hypoadrenocorticism, Familial:

59 32 (show top 50) (show all 58)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
2 muscle weakness 59 32 hallmark (90%) Very frequent (99-80%) HP:0001324
3 failure to thrive 59 32 hallmark (90%) Very frequent (99-80%) HP:0001508
4 nausea and vomiting 59 32 hallmark (90%) Very frequent (99-80%) HP:0002017
5 constipation 59 32 hallmark (90%) Very frequent (99-80%) HP:0002019
6 delayed puberty 59 32 occasional (7.5%) Occasional (29-5%) HP:0000823
7 fatigue 59 32 hallmark (90%) Very frequent (99-80%) HP:0012378
8 type i diabetes mellitus 59 32 occasional (7.5%) Occasional (29-5%) HP:0100651
9 arthralgia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002829
10 hypoglycemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001943
11 hyperuricemia 59 32 frequent (33%) Frequent (79-30%) HP:0002149
12 abdominal pain 59 32 hallmark (90%) Very frequent (99-80%) HP:0002027
13 weight loss 59 32 hallmark (90%) Very frequent (99-80%) HP:0001824
14 dry skin 59 32 occasional (7.5%) Occasional (29-5%) HP:0000958
15 premature ovarian insufficiency 59 32 occasional (7.5%) Occasional (29-5%) HP:0008209
16 hashimoto thyroiditis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000872
17 vitiligo 59 32 occasional (7.5%) Occasional (29-5%) HP:0001045
18 celiac disease 59 32 occasional (7.5%) Occasional (29-5%) HP:0002608
19 hypoparathyroidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000829
20 anorexia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002039
21 vertigo 59 32 occasional (7.5%) Occasional (29-5%) HP:0002321
22 hyponatremia 59 32 frequent (33%) Frequent (79-30%) HP:0002902
23 hypercalcemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0003072
24 diarrhea 59 32 hallmark (90%) Very frequent (99-80%) HP:0002014
25 thymoma 59 32 very rare (1%) Very rare (<4-1%) HP:0100522
26 renal salt wasting 59 32 frequent (33%) Frequent (79-30%) HP:0000127
27 adrenal hypoplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000835
28 increased circulating renin level 59 32 frequent (33%) Frequent (79-30%) HP:0000848
29 hyperkalemia 59 32 frequent (33%) Frequent (79-30%) HP:0002153
30 increased circulating acth level 59 32 hallmark (90%) Very frequent (99-80%) HP:0003154
31 orthostatic hypotension 59 32 occasional (7.5%) Occasional (29-5%) HP:0001278
32 hyperpigmentation of the skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0000953
33 normocytic anemia 59 32 frequent (33%) Frequent (79-30%) HP:0001897
34 generalized bone demineralization 59 32 occasional (7.5%) Occasional (29-5%) HP:0006462
35 decreased urinary potassium 59 32 frequent (33%) Frequent (79-30%) HP:0012364
36 sparse axillary hair 59 32 occasional (7.5%) Occasional (29-5%) HP:0002215
37 decreased female libido 59 32 occasional (7.5%) Occasional (29-5%) HP:0030018
38 adrenal calcification 59 32 occasional (7.5%) Occasional (29-5%) HP:0010512
39 androgen insufficiency 59 32 frequent (33%) Frequent (79-30%) HP:0008226
40 hyperkalemic metabolic acidosis 59 32 frequent (33%) Frequent (79-30%) HP:0005976
41 salt craving 59 32 occasional (7.5%) Occasional (29-5%) HP:0030083
42 thiamine-responsive megaloblastic anemia 59 32 very rare (1%) Very rare (<4-1%) HP:0004860
43 primary testicular failure 59 32 very rare (1%) Very rare (<4-1%) HP:0008720
44 hypotension 59 Very frequent (99-80%)
45 feeding difficulties in infancy 32 HP:0008872
46 vomiting 32 HP:0002013
47 abnormality of the cardiovascular system 32 HP:0001626
48 autoimmunity 59 Very frequent (99-80%)
49 apnea 32 HP:0002104
50 primary adrenal insufficiency 59 Obligate (100%)

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased transferrin (TF) endocytosis GR00363-A 9.61 CRH CTLA4 CYP11A1 CYP21A2 MC2R POMC
2 Reduced mammosphere formation GR00396-S 9.1 ABCD1 CYP21A2 MC2R NR0B1 POMC STAR

MGI Mouse Phenotypes related to Hypoadrenocorticism, Familial:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 10.14 ABCD1 AIRE CRH CTLA4 CYP11A1 MC2R
2 homeostasis/metabolism MP:0005376 10.03 ABCD1 AIRE CRH CTLA4 CYP11A1 DDC
3 growth/size/body region MP:0005378 10.02 AIRE CRH CYP11A1 DDC MC2R POMC
4 hematopoietic system MP:0005397 9.97 ABCD1 AIRE CRH CTLA4 CYP11A1 MC2R
5 immune system MP:0005387 9.85 ABCD1 AIRE CRH CTLA4 CYP11A1 DDC
6 liver/biliary system MP:0005370 9.43 AIRE CRH CTLA4 CYP11A1 POMC PTPN22
7 mortality/aging MP:0010768 9.32 ABCD1 AIRE CTLA4 CYP11A1 DDC MC2R

Genetic Tests for Hypoadrenocorticism, Familial

Genetic tests related to Hypoadrenocorticism, Familial:

# Genetic test Affiliating Genes
1 Adrenal Hypoplasia 29

Anatomical Context for Hypoadrenocorticism, Familial

MalaCards organs/tissues related to Hypoadrenocorticism, Familial:

41
Adrenal Gland, Skin, Testes, Kidney, Cortex, Adrenal Cortex, Bone

Publications for Hypoadrenocorticism, Familial

Articles related to Hypoadrenocorticism, Familial:

(show top 50) (show all 65)
# Title Authors Year
1
Elevated serum RANTES chemokine levels in autoimmune Addison disease. ( 29498364 )
2018
2
Glucocorticoid replacement in Addison disease. ( 29930339 )
2018
3
A case report: Addison disease caused by adrenal tuberculosis. ( 29988545 )
2018
4
Addison disease and normocalcemic primary hyperparathyroidism in a dog with multiple endocrine neoplasia. ( 29296592 )
2017
5
An Addison disease revealed with a serious hyponatremia. ( 28132947 )
2017
6
Histopathologic Findings of Cutaneous Hyperpigmentation in Addison Disease and Immunostain of the Melanocytic Population. ( 28609345 )
2017
7
BONE MINERAL DENSITY IN PATIENTS WITH ADDISON DISEASE ON REPLACEMENT THERAPY WITH PREDNISOLONE. ( 26684152 )
2016
8
Addison Disease and Discoid Lupus Erythematosus: A Rare Association of Polyglandular Autoimmune Syndrome Type II. ( 27660939 )
2016
9
Secondary amenorrhea associated with high serum 17-hydroxyprogesterone levels revealing a heterozygous CYP21A2 mutation in a woman with Addison disease. ( 25353971 )
2014
10
Therapy. Cortisol rhythms in Addison disease. ( 24590184 )
2014
11
Addison disease: early detection and treatment principles. ( 24695602 )
2014
12
Refractory major depression successfully treated with electroconvulsive therapy in a patient with Addison disease. ( 23377750 )
2013
13
Coexistence of Cushing syndrome from functional adrenal adenoma and Addison disease from immune-mediated adrenalitis. ( 22707647 )
2012
14
Diffuse hair loss in Addison disease: a reason for X-linked adrenoleukodystrophy screening. ( 22507581 )
2012
15
Treatment of addison disease and subsequent hypophosphatemic respiratory failure. ( 22115755 )
2012
16
Autoimmune Addison disease: pathophysiology and genetic complexity. ( 22290360 )
2012
17
Total hip replacement infected with Mycobacterium tuberculosis complicated by Addison disease and psoas muscle abscess: a case report. ( 22233936 )
2012
18
Large mitochondrial DNA deletion in an infant with addison disease. ( 23430867 )
2012
19
Autoimmunity: autoimmune Addison disease and premature ovarian failure. ( 21750509 )
2011
20
A Dog with Pseudo-Addison Disease Associated with Trichuris vulpis Infection. ( 21716662 )
2011
21
Addison disease in adults: diagnosis and management. ( 20399314 )
2010
22
M. Pura et al. (Lubochna and Prague) with the title : &amp;quot;the low dose (1 microg) cosyntropin test (LDT) for primary adrenocortical insufficiency: defining the normal cortisol response and report on first patients with Addison disease confirmed with LDT&amp;quot; (ECED 2010; 118: 151-157). ( 20533153 )
2010
23
Takotsubo cardiomyopathy in a patient with Addison disease: is apical ballooning always reversible? ( 18662833 )
2010
24
Takotsubo cardiomyopathy in a patient with Addison disease. ( 19217174 )
2010
25
The low-dose (1 microg) cosyntropin test (LDT) for primary adrenocortical insufficiency: Defining the normal cortisol response and report on first patients with Addison disease confirmed with LDT. ( 19358090 )
2010
26
Addison disease presenting with acute neurologic deterioration: a rare presentation yields new lessons from old observations in primary adrenal failure. ( 20061283 )
2010
27
The great imitator. Addison disease. ( 20609673 )
2010
28
Addison disease - diagnosis and initial management. ( 21301655 )
2010
29
Exaggerated postsurgical inflammation in a patient with insufficiently treated Addison disease. ( 19273936 )
2009
30
Myasthenia gravis and autoimmune Addison disease in a patient with thymoma. ( 19808197 )
2009
31
Effects of glucose infusion on neuroendocrine and cognitive parameters in Addison disease. ( 19709691 )
2009
32
Addison disease. ( 19952131 )
2009
33
Death after failure to diagnose Addison disease. ( 18309541 )
2008
34
Generalized pigmentation due to Addison disease. ( 18700116 )
2008
35
High grade primary adrenal intravascular large B-cell lymphoma manifesting as Addison disease. ( 18020866 )
2007
36
Failure to diagnose: Addison disease. ( 17925910 )
2007
37
X-linked adrenoleukodystrophy presenting as Addison disease. ( 15923703 )
2005
38
Paraneoplastic neurologic syndrome and autoimmune Addison disease in a patient with thymoma. ( 15654180 )
2005
39
[Addison disease during pregnancy--a diagnostic dilemma. Symptoms are similar to normal pregnancy problems]. ( 16044755 )
2005
40
Chronic fatigue syndrome, pregnancy, and Addison disease. ( 15477445 )
2004
41
Addison disease (adrenal insufficiency). ( 14620271 )
2003
42
The coexistance of familial Mediterranean fever and Addison disease. ( 10636223 )
2000
43
Addison disease after appendicitis. ( 10746833 )
2000
44
Addison-disease - an unusual clinical manifestation of CMV-end organ disease in pediatric AIDS. ( 10882640 )
2000
45
Lumbar puncture headache in a patient with Addison disease. ( 10971673 )
2000
46
Fibromyalgia, chronic fatigue syndrome, and Addison disease. ( 10665898 )
1999
47
Encephalopathy in a patient with Addison disease. ( 10999103 )
1999
48
Mitochondrial DNA deletion with Kearns Sayre syndrome in a child with Addison disease. ( 9727847 )
1998
49
A novel presentation of Addison disease: hypoglycemia unawareness in an adolescent with insulin-dependent diabetes mellitus. ( 9602207 )
1998
50
Addison disease in patients treated with glucocorticoid therapy. ( 9046898 )
1997

Variations for Hypoadrenocorticism, Familial

ClinVar genetic disease variations for Hypoadrenocorticism, Familial:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PTPN22 NM_015967.6(PTPN22): c.1858C> T (p.Arg620Trp) single nucleotide variant risk factor rs2476601 GRCh37 Chromosome 1, 114377568: 114377568
2 PTPN22 NM_015967.6(PTPN22): c.1858C> T (p.Arg620Trp) single nucleotide variant risk factor rs2476601 GRCh38 Chromosome 1, 113834946: 113834946
3 ABCD1 NM_000033.3(ABCD1): c.1817C> T (p.Ser606Leu) single nucleotide variant Pathogenic rs128624225 GRCh37 Chromosome X, 153008477: 153008477
4 ABCD1 NM_000033.3(ABCD1): c.1817C> T (p.Ser606Leu) single nucleotide variant Pathogenic rs128624225 GRCh38 Chromosome X, 153743023: 153743023
5 ABCD1 ABCD1, 1-BP DEL, 2204G deletion Pathogenic

Cosmic variations for Hypoadrenocorticism, Familial:

9 (show all 18)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM45444 TP53 adrenal gland,adrenal gland,adrenal cortical adenoma,cortisol producing c.587G>T p.R196L 17:7674944-7674944 10
2 COSM43555 TP53 adrenal gland,adrenal gland,adrenal cortical adenoma,cortisol producing c.736A>G p.M246V 17:7674227-7674227 10
3 COSM225014 RB1 adrenal gland,adrenal gland,adrenal cortical adenoma,cortisol producing c.1960G>A p.V654M 13:48456349-48456349 10
4 COSM4167506 PRKACA adrenal gland,adrenal gland,adrenal cortical adenoma,cortisol producing c.617T>G p.L206R 19:14097604-14097604 10
5 COSM27887 GNAS adrenal gland,adrenal gland,adrenal cortical neoplasm,cortisol producing c.601C>T p.R201C 20:58909365-58909365 10
6 COSM27899 GNAS adrenal gland,adrenal gland,adrenal cortical adenoma,cortisol producing c.601C>A p.R201S 20:58909365-58909365 10
7 COSM27895 GNAS adrenal gland,adrenal gland,adrenal cortical adenoma,cortisol producing c.602G>A p.R201H 20:58909366-58909366 10
8 COSM4962873 GNAS adrenal gland,adrenal gland,adrenal cortical adenoma,cortisol producing c.679C>G p.Q227E 20:58909540-58909540 10
9 COSM5663 CTNNB1 adrenal gland,adrenal gland,adrenal cortical adenoma,cortisol producing c.133T>C p.S45P 3:41224645-41224645 10
10 COSM5689 CTNNB1 adrenal gland,adrenal gland,adrenal cortical adenoma,cortisol producing c.134C>G p.S45C 3:41224646-41224646 10
11 COSM5678 CTNNB1 adrenal gland,adrenal gland,adrenal cortical adenoma,cortisol producing c.107A>C p.H36P 3:41224619-41224619 10
12 COSM5667 CTNNB1 adrenal gland,adrenal gland,adrenal cortical adenoma,cortisol producing c.134C>T p.S45F 3:41224646-41224646 10
13 COSM5686 CTNNB1 adrenal gland,adrenal gland,adrenal cortical adenoma,cortisol producing c.100G>A p.G34R 3:41224612-41224612 10
14 COSM5679 CTNNB1 adrenal gland,adrenal gland,adrenal cortical adenoma,cortisol producing c.110C>G p.S37C 3:41224622-41224622 10
15 COSM17661 CTNNB1 adrenal gland,adrenal gland,adrenal cortical adenoma,cortisol producing c.130C>G p.P44A 3:41224642-41224642 10
16 COSM5988492 CTNNB1 adrenal gland,adrenal gland,adrenal cortical adenoma,cortisol producing c.101G>C p.G34A 3:41224613-41224613 10
17 COSM5681 CTNNB1 adrenal gland,adrenal gland,adrenal cortical adenoma,cortisol producing c.95A>G p.D32G 3:41224607-41224607 10
18 COSM476 BRAF adrenal gland,adrenal gland,adrenal cortical adenoma,cortisol producing c.1799T>A p.V600E 7:140753336-140753336 10

Copy number variations for Hypoadrenocorticism, Familial from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 17293 1 142400000 148000000 Deletion FCGR1C Addison''s disease

Expression for Hypoadrenocorticism, Familial

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

Pathways for Hypoadrenocorticism, Familial

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.17 CYP11A1 CYP21A2 MC2R NR0B1 POMC STAR
2
Show member pathways
12.04 CRH CYP11A1 CYP21A2 MC2R POMC STAR
4 11.74 CRH MC2R POMC
5
Show member pathways
11.51 CYP11A1 MC2R POMC
6
Show member pathways
11.5 CYP11A1 CYP21A2 POMC STAR
7
Show member pathways
11.06 DDC TPO
8 10.99 CRH CYP11A1 CYP21A2 POMC STAR
9 10.17 CRH POMC

GO Terms for Hypoadrenocorticism, Familial

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 steroid metabolic process GO:0008202 9.58 CRH CYP11A1 CYP21A2
2 cellular response to dexamethasone stimulus GO:0071549 9.51 CRH STAR
3 sterol metabolic process GO:0016125 9.49 CYP11A1 CYP21A2
4 response to immobilization stress GO:0035902 9.48 CRH NR0B1
5 adrenal gland development GO:0030325 9.46 CRH NR0B1
6 response to corticosterone GO:0051412 9.43 CRH STAR
7 hypothalamus development GO:0021854 9.37 CRH NR0B1
8 C21-steroid hormone biosynthetic process GO:0006700 9.32 CYP11A1 STAR
9 cellular response to alkaloid GO:0071312 9.26 DDC STAR
10 steroid biosynthetic process GO:0006694 9.26 CYP11A1 CYP21A2 NR0B1 STAR
11 diterpenoid metabolic process GO:0016101 9.16 CRH STAR
12 glucocorticoid biosynthetic process GO:0006704 8.8 CRH CYP11A1 CYP21A2

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

# Name GO ID Score Top Affiliating Genes
1 heme binding GO:0020037 8.8 CYP11A1 CYP21A2 TPO

Sources for Hypoadrenocorticism, Familial

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
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74 UMLS via Orphanet
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