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HALD1
MCID: HYP731
MIFTS: 59

Hyperaldosteronism, Familial, Type I (HALD1)

Categories: Blood diseases, Cardiovascular diseases, Endocrine diseases, Genetic diseases, Nephrological diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Hyperaldosteronism, Familial, Type I

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MalaCards integrated aliases for Hyperaldosteronism, Familial, Type I:

Name: Hyperaldosteronism, Familial, Type I 57 29 6 39
Glucocorticoid-Remediable Aldosteronism 57 12 20 58 72 36 54 44 15 70
Familial Hyperaldosteronism Type 1 20 58 70
Gra 57 58 72
Glucocorticoid-Suppressible Hyperaldosteronism 57 72
Acth-Dependent Hyperaldosteronism Syndrome 57 72
Aldosteronism, Glucocorticoid-Remediable 57 13
Glucocorticoid Sensitive Hypertension 20 72
Dexamethasone Sensitive Hypertension 20 72
Hyperaldosteronism, Familial Type 1 73 20
Familial Hyperaldosteronism Type I 58 72
Hald1 57 72
Fh I 57 72
Gsh 57 72
Fh1 58 72
Glucocorticoid-Suppressible Hyperaldosteronism; Gsh 57
Glucocorticoid-Remediable Aldosteronism; Gra 57
Aldosteronism, Sensitive to Dexamethasone 57
Aldosteronism Sensitive to Dexamethasone 72
Glucocorticoid-Sensitive Hypertension 58
Dexamethasone-Sensitive Hypertension 58
Hyperaldosteronism, Familial, 1 72
Familial Hyperaldosteronism 1 72
Familial Aldosteronism Type I 70
Fh Type 1 72
Fh-I 58

Characteristics:

Orphanet epidemiological data:

58
familial hyperaldosteronism type i
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult,Childhood; Age of death: normal life expectancy;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
variable phenotypic expression
variable age at onset (childhood to adult)
chimeric cyp11b1/cyp11b2 gene is an anti-lepore-like fusion product


HPO:

31
hyperaldosteronism, familial, type i:
Inheritance autosomal dominant inheritance
Onset and clinical course onset


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Cardiovascular diseases Nephrological diseases Endocrine diseases Blood diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare circulatory system diseases
Rare renal diseases
Rare endocrine diseases


External Ids:

Disease Ontology 12 DOID:14080
OMIM® 57 103900
OMIM Phenotypic Series 57 PS103900
KEGG 36 H00602
ICD9CM 34 255.11
NCIt 50 C123248
SNOMED-CT 67 237743003
ICD10 32 E26.02
ICD10 via Orphanet 33 E26.0
UMLS via Orphanet 71 C1260386
Orphanet 58 ORPHA403
MedGen 41 C1260386
UMLS 70 C1260385 C1260386 C3838731
Sources

Summaries for Hyperaldosteronism, Familial, Type I

About this section
KEGG : 36 Glucocorticoid-remediable aldosteronism (GRA), also known as familial hypoaldosteronism type I, is an autosomal dominant disease that causes hypertension, hypokalemia, decreased plasma renin activity and increased aldosterone levels. GRA is caused by a chimeric gene that links the 11 [beta]-hydroxylase promoter sequence to the aldosterone synthase gene's coding region. As a result, aldosterone is ectopically synthesized in the cortisol-secreting zona fasciculata of the adrenal gland under the control of adrenocorticotropin (ACTH). The high levels of mineralocorticoids activate the mineralocorticoid receptor (MR) and upregulate Na reabsorption and K secretion. Most individuals have severe hypertension since infancy but milder phenotypes have been described.

MalaCards based summary : Hyperaldosteronism, Familial, Type I, also known as glucocorticoid-remediable aldosteronism, is related to familial hyperaldosteronism and aldosterone-producing adenoma. An important gene associated with Hyperaldosteronism, Familial, Type I is CYP11B1 (Cytochrome P450 Family 11 Subfamily B Member 1), and among its related pathways/superpathways are Steroid hormone biosynthesis and Myometrial Relaxation and Contraction Pathways. The drug glucocorticoids has been mentioned in the context of this disorder. Affiliated tissues include adrenal gland, kidney and heart, and related phenotypes are hypertension and dexamethasone-suppressible primary hyperaldosteronism

GARD : 20 Glucocorticoid-remediable aldosteronism is one of three types of familial hyperaldosteronism. Aldosterone is a hormone manufactured by the adrenal glands which helps the body retain water and sodium and excrete potassium. It is caused by a fusion of the CYP11B1 and CYP11B2 genes and is inherited in an autosomal dominant manner. Individuals with this condition usually have hypertension (high blood pressure) before age 21. These individuals are also at an increased risk for a certain type of stroke known as a hemorrhagic stroke. First-line therapy consists of a steroid such as prednisone, dexamethasone, or hydrocortisone. This will often correct the overproduction of aldosterone, lower the blood pressure, and correct the potassium levels.

OMIM® : 57 Glucocorticoid-remediable aldosteronism is an autosomal dominant disorder characterized by hypertension, variable hyperaldosteronism, and abnormal adrenal steroid production, including 18-oxocortisol and 18-hydroxycortisol (Lifton et al., 1992). There is significant phenotypic heterogeneity, and some individuals never develop hypertension (Stowasser et al., 2000). (103900) (Updated 20-May-2021)

UniProtKB/Swiss-Prot : 72 Hyperaldosteronism, familial, 1: A disorder characterized by hypertension, variable hyperaldosteronism, and abnormal adrenal steroid production, including 18-oxocortisol and 18-hydroxycortisol. There is significant phenotypic heterogeneity, and some individuals never develop hypertension.

Wikipedia : 73 Hyperaldosteronism is a medical condition wherein too much aldosterone is produced by the adrenal... more...

Sources

Related Diseases for Hyperaldosteronism, Familial, Type I

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Diseases in the Familial Hyperaldosteronism family:

Hyperaldosteronism, Familial, Type I Hyperaldosteronism, Familial, Type Ii
Hyperaldosteronism, Familial, Type Iii Hyperaldosteronism, Familial, Type Iv
Rare Primary Hyperaldosteronism

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

(show top 50) (show all 316)
# Related Disease Score Top Affiliating Genes
1 familial hyperaldosteronism 32.1 LOC106799834 LOC106799833 KCNJ5 CYP11B2 CYP11B1 CACNA1H
2 aldosterone-producing adenoma 31.0 KCNJ5 CYP11B2 CACNA1D
3 hypokalemia 30.3 REN POMC NR3C2 NR3C1 KCNJ5 HSD11B2
4 adrenal cortical adenoma 30.0 REN POMC CYP11B1
5 apparent mineralocorticoid excess 29.9 WNK4 REN NR3C2 NR3C1 HSD11B2 CYP11B2
6 adenoma 29.9 REN POMC KCNJ5 HSD11B2 CYP11B2 CYP11B1
7 familial hypertension 29.6 WNK4 WNK1 REN NR3C2 HSD11B2 CYP11B2
8 body mass index quantitative trait locus 11 29.2 REN POMC NR3C2 NR3C1 HSD11B2 AGT
9 myocardial infarction 29.0 REN NR3C2 KCNJ5 CYP11B2 AGT ADD1
10 conn's syndrome 28.8 REN POMC NR3C2 NR3C1 KCNJ5 HSD11B2
11 disease of mental health 28.4 REN POMC NR3C2 NR3C1 HSD11B2 CACNA1H
12 hypertension, essential 27.7 WNK4 WNK1 REN POMC NR3C2 NR3C1
13 hyperaldosteronism, familial, type iii 11.5
14 hyperaldosteronism, familial, type ii 11.0
15 acetaminophen metabolism 10.9
16 glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to 10.9
17 glutamate-cysteine ligase deficiency 10.9
18 toxoplasmosis 10.4
19 corticosterone methyloxidase deficiency 10.4 LOC106799834 CYP11B2
20 acute adrenal insufficiency 10.4 REN POMC
21 premenstrual tension 10.3 REN POMC
22 alzheimer disease 16 10.3 POMC NR3C1
23 corticosterone methyloxidase type ii deficiency 10.3 LOC106799834 CYP11B2
24 ectopic cushing syndrome 10.3 POMC NR3C1
25 benign essential hypertension 10.3 REN POMC
26 ovarian serous adenofibroma 10.3 POMC NR3C1
27 adrenal rest tumor 10.3 POMC CYP11B2 CYP11B1
28 pre-eclampsia 10.3
29 intracranial aneurysm 10.3
30 aneurysm 10.3
31 hypertensive retinopathy 10.3 REN NR3C2
32 pituitary-dependent cushing's disease 10.3 POMC NR3C1
33 neuroblastoma 10.3
34 pseudohypoaldosteronism, type i, autosomal dominant 10.3 REN NR3C2
35 pseudohypoaldosteronism, type i, autosomal recessive 10.3 REN NR3C2 CYP11B1
36 atypical depressive disorder 10.3 POMC NR3C1
37 hypoadrenocorticism, familial 10.3 REN POMC CYP11B2
38 nelson syndrome 10.2 POMC NR3C1
39 eustachian tube disease 10.2 NR3C2 CACNA1D
40 mineral metabolism disease 10.2 REN POMC NR3C2
41 potter's syndrome 10.2 REN AGT
42 postpartum depression 10.2 POMC NR3C2 NR3C1
43 corticosteroid-binding globulin deficiency 10.2 POMC NR3C1 HSD11B2
44 patulous eustachian tube 10.2 NR3C2 CACNA1D
45 hypoaldosteronism 10.2 REN POMC LOC106799834 CYP11B2
46 charcot-marie-tooth disease, axonal, type 2dd 10.2 ATP1A4 ATP1A1
47 adrenal cortex disease 10.2 REN POMC CYP11B2 CYP11B1
48 familial glucocorticoid deficiency 10.2 REN POMC CYP11B2 CYP11B1
49 fibromuscular dysplasia 10.2 REN AGT
50 systolic heart failure 10.2 NR3C2 CYP11B2 AGT

Graphical network of the top 20 diseases related to Hyperaldosteronism, Familial, Type I:



Diseases related to Hyperaldosteronism, Familial, Type I
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Symptoms & Phenotypes for Hyperaldosteronism, Familial, Type I

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Human phenotypes related to Hyperaldosteronism, Familial, Type I:

58 31 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertension 58 31 obligate (100%) Obligate (100%) HP:0000822
2 dexamethasone-suppressible primary hyperaldosteronism 31 obligate (100%) HP:0011739
3 adrenal hyperplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0008221
4 abnormal circulating renin 58 31 hallmark (90%) Very frequent (99-80%) HP:0040084
5 muscle weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0001324
6 polydipsia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001959
7 hypokalemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002900
8 epistaxis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000421
9 intracranial hemorrhage 58 31 occasional (7.5%) Occasional (29-5%) HP:0002170
10 headache 58 31 occasional (7.5%) Occasional (29-5%) HP:0002315
11 tinnitus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000360
12 preeclampsia 58 31 occasional (7.5%) Occasional (29-5%) HP:0100602
13 nausea 58 31 occasional (7.5%) Occasional (29-5%) HP:0002018
14 secretory adrenocortical adenoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0011746
15 caesarian section 58 31 occasional (7.5%) Occasional (29-5%) HP:0011410
16 hyperaldosteronism 31 HP:0000859
17 abnormality of the urinary system 31 HP:0000079
18 decreased circulating renin level 31 HP:0003351
19 adrenogenital syndrome 31 HP:0000840
20 dexamethasone-suppresible primary hyperaldosteronism 58 Obligate (100%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Genitourinary Kidneys:
adrenal hyperplasia

Endocrine Features:
increased aldosterone

Cardiovascular Vascular:
hypertension (suppressible by glucocorticoid treatment)

Laboratory Abnormalities:
increased aldosterone
normal or decreased serum potassium
low plasma renin activity
increased 18-oxocortisol
increased 18-hydroxycortisol

Clinical features from OMIM®:

103900 (Updated 20-May-2021)

GenomeRNAi Phenotypes related to Hyperaldosteronism, Familial, Type I according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Reduced mammosphere formation GR00396-S 9.23 ATP1A1 ATP1A4 CYP11B1 HSD11B2 KCNJ5 NR3C1

MGI Mouse Phenotypes related to Hyperaldosteronism, Familial, Type I:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.13 AGT ATP1A1 ATP2B3 CACNA1D CACNA1H CYP11B1
2 homeostasis/metabolism MP:0005376 9.97 ADD1 AGT ATP1A1 CACNA1D CYP11B1 CYP11B2
3 muscle MP:0005369 9.61 AGT ATP1A1 CACNA1H CYP11B1 HSD11B2 NR3C1
4 renal/urinary system MP:0005367 9.32 AGT CYP11B1 CYP11B2 HSD11B2 NR3C1 NR3C2
Sources

Drugs & Therapeutics for Hyperaldosteronism, Familial, Type I

About this section

Drugs for Hyperaldosteronism, Familial, Type I (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 glucocorticoids

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Diagnosis/Pathophysiology of Glucocorticoid Remediable Aldosteronism Hypertension Completed NCT00005394
2 Study of Prevalence and Clinical Phenotype in Patients With Glucocorticoid-Remediable Aldosteronism Completed NCT00004354

Search NIH Clinical Center for Hyperaldosteronism, Familial, Type I

Cochrane evidence based reviews: glucocorticoid-remediable aldosteronism

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Genetic Tests for Hyperaldosteronism, Familial, Type I

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Genetic tests related to Hyperaldosteronism, Familial, Type I:

# Genetic test Affiliating Genes
1 Hyperaldosteronism, Familial, Type I 29 CYP11B1
Sources

Anatomical Context for Hyperaldosteronism, Familial, Type I

About this section

MalaCards organs/tissues related to Hyperaldosteronism, Familial, Type I:

40
Adrenal Gland, Kidney, Heart, Bone, Liver, Myeloid, Breast
Sources

Publications for Hyperaldosteronism, Familial, Type I

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Articles related to Hyperaldosteronism, Familial, Type I:

(show top 50) (show all 181)
# Title Authors PMID Year
1
A chimaeric 11 beta-hydroxylase/aldosterone synthase gene causes glucocorticoid-remediable aldosteronism and human hypertension. 57 6 61
1731223 1992
2
Neonatal salt-wasting and 11 beta-hydroxylase deficiency in a child carrying a homozygous deletion hybrid CYP11B2 (aldosterone synthase)-CYP11B1 (11 beta-hydroxylase). 6 61 54
15324322 2004
3
Genetic study of patients with dexamethasone-suppressible aldosteronism without the chimeric CYP11B1/CYP11B2 gene. 61 57 54
11600544 2001
4
Glucocorticoid remediable aldosteronism: low morbidity and mortality in a four-generation italian pedigree. 57 61
12107222 2002
5
Treatment of familial hyperaldosteronism type I: only partial suppression of adrenocorticotropin required to correct hypertension. 54 57
10999827 2000
6
Severity of hypertension in familial hyperaldosteronism type I: relationship to gender and degree of biochemical disturbance. 57 54
10852446 2000
7
Rapid diagnosis and identification of cross-over sites in patients with glucocorticoid remediable aldosteronism. 57 61
9851772 1998
8
Variation of phenotype in patients with glucocorticoid remediable aldosteronism. 61 57
8825044 1996
9
Glucocorticoid-suppressible hyperaldosteronism and adrenal tumors occurring in a single French pedigree. 54 57
7593610 1995
10
The chimeric gene linked to glucocorticoid-suppressible hyperaldosteronism encodes a fused P-450 protein possessing aldosterone synthase activity. 57 54
1472060 1992
11
Non-tumorous "primary" aldosteronism. I. Type relieved by glucocorticoid (glucocorticoid-remediable aldosteronism). 57 61
5793351 1969
12
Effects of 18-hydroxylated steroids on corticosteroid production by human aldosterone synthase and 11beta-hydroxylase. 57
11549669 2001
13
Biochemical evidence of aldosterone overproduction and abnormal regulation in normotensive individuals with familial hyperaldosteronism type I. 57
10566645 1999
14
Altered 11 beta-hydroxylase activity in glucocorticoid-suppressible hyperaldosteronism. 57
8964867 1996
15
Heterogeneous hypertension. 57
7550315 1995
16
Genetic and pathophysiologic studies of a new kindred with glucocorticoid-suppressible hyperaldosteronism manifest in three generations. 57
7026592 1981
17
Glucocorticoid-suppressible hyperaldosteronism: a clue to the missing hormone? 57
6268977 1981
18
Anomalous postural aldosterone response in glucocorticoid-suppressible hyperaldosteronism. 57
6268979 1981
19
Familial, dexamethasone-suppressible, normokalemic hyperaldosteronism. 57
6987607 1980
20
A kindred with familial glucocorticoid suppressible aldosteronism. 57
4346813 1973
21
A new form of congenital adrenal hyperplasia. 57
6018580 1967
22
Hypertension, increased aldosterone secretion and low plasma renin activity relieved by dexamethasone. 57
4288576 1966
23
A novel form of human mendelian hypertension featuring nonglucocorticoid-remediable aldosteronism. 54 61
18505761 2008
24
Adrenocortical hypertension. 61 54
16480676 2006
25
Genetic screening for glucocorticoid-remediable aldosteronism (GRA): experience of three clinical centres in Poland. 61 54
16110193 2005
26
Adrenocortical hypertension. 54 61
15128476 2004
27
Mendelian hypertension with brachydactyly as a molecular genetic lesson in regulatory physiology. 61 54
12959913 2003
28
[Monogenic hypertension]. 61 54
12715144 2003
29
New genetic insights in familial hyperaldosteronism. 61 54
12381543 2002
30
Juvenile hypertension, the role of genetically altered steroid metabolism. 54 61
11740142 2001
31
Familial hyperaldosteronism. 54 61
11004715 2000
32
Primary hyperaldosteronism in essential hypertensives: prevalence, biochemical profile, and molecular biology. 61 54
10843166 2000
33
Aldosterone-producing adenomas do not contain glucocorticoid-remediable aldosteronism chimeric gene duplications. 61 54
8954032 1996
34
Glucocorticoid-remediable aldosteronism (GRA): diagnosis, variability of phenotype and regulation of potassium homeostasis. 54 61
7792815 1995
35
Hereditary hypertension caused by chimaeric gene duplications and ectopic expression of aldosterone synthase. 54 61
1303253 1992
36
Preclinical diagnosis and identification of the chimeric CYP11B1/CYP11B2 gene in two pediatric cases of a Japanese family with glucocorticoid-remediable aldosteronism. 61
33642567 2021
37
Clinical and Molecular Perspectives of Monogenic Hypertension. 61
30963979 2020
38
Adrenalectomy Completely Cured Hypertension in Patients With Familial Hyperaldosteronism Type I Who Had Somatic KCNJ5 Mutation. 61
31287546 2019
39
Maintenance of long-term blood pressure control and vascular health by low-dose amiloride-based therapy in hyperaldosteronism. 61
31347775 2019
40
Long-term BP control and vascular health in patients with hyperaldosteronism treated with low-dose, amiloride-based therapy. 61
31169971 2019
41
Timeline of Advances in Genetics of Primary Aldosteronism. 61
31588534 2019
42
Glucocorticoid-remediable aldosteronism in a young adult with a family history of Conn's syndrome. 61
29445488 2018
43
DIAGNOSIS OF ENDOCRINE DISEASE: 18-Oxocortisol and 18-hydroxycortisol: is there clinical utility of these steroids? 61
28904009 2018
44
AN INDIVIDUALIZED APPROACH TO THE EVALUATION AND MANAGEMENT OF PRIMARY ALDOSTERONISM. 61
28332881 2017
45
SFE/SFHTA/AFCE consensus on primary aldosteronism, part 5: Genetic diagnosis of primary aldosteronism. 61
27315758 2016
46
Improving the diagnosis of 11β-hydroxylase deficiency using home-made MLPA probes: identification of a novel chimeric CYP11B2/CYP11B1 gene in a Sicilian patient. 61
26280318 2016
47
Role of ACTH and Other Hormones in the Regulation of Aldosterone Production in Primary Aldosteronism. 61
27445975 2016
48
A Case of Glucocorticoid Remediable Aldosteronism and Thoracoabdominal Aneurysms. 61
27366333 2016
49
An Update on Familial Hyperaldosteronism. 61
26445452 2015
50
Chimeric CYP11B2/CYP11B1 causing 11β-hydroxylase deficiency in Chinese patients with congenital adrenal hyperplasia. 61
26066897 2015
Sources

Variations for Hyperaldosteronism, Familial, Type I

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ClinVar genetic disease variations for Hyperaldosteronism, Familial, Type I:

6 (show top 50) (show all 217)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LOC106799833 , CYP11B1 NM_000497.3(CYP11B1):c.1066C>T (p.Gln356Ter) SNV Pathogenic 56830 rs146124466 GRCh37: 8:143957183-143957183
GRCh38: 8:142875767-142875767
2 CYP11B1 CYP11B1, CYP11B1/CYP11B2 ANTI-LEPORE-LIKE CHIMERA Variation Pathogenic 1172 GRCh37:
GRCh38:
3 LOC106799833 , CYP11B1 NM_000497.3(CYP11B1):c.1151G>A (p.Arg384Gln) SNV Likely pathogenic 552238 rs764598023 GRCh37: 8:143956699-143956699
GRCh38: 8:142875283-142875283
4 LOC106799833 , CYP11B1 NM_000497.3(CYP11B1):c.1343G>A (p.Arg448His) SNV Likely pathogenic 1171 rs28934586 GRCh37: 8:143956428-143956428
GRCh38: 8:142875012-142875012
5 LOC106799833 , CYP11B1 NM_000497.4(CYP11B1):c.766C>T (p.His256Tyr) SNV Uncertain significance 932068 GRCh37: 8:143958131-143958131
GRCh38: 8:142876715-142876715
6 LOC106799834 , CYP11B2 NM_000498.3(CYP11B2):c.595+15G>T SNV Uncertain significance 362216 rs886062743 GRCh37: 8:143996447-143996447
GRCh38: 8:142915031-142915031
7 CYP11B1 NM_000497.3(CYP11B1):c.*1358T>C SNV Uncertain significance 362114 rs886062734 GRCh37: 8:143954431-143954431
GRCh38: 8:142873015-142873015
8 LOC106799833 , CYP11B1 NM_000497.3(CYP11B1):c.1205T>C (p.Leu402Ser) SNV Uncertain significance 362148 rs886062738 GRCh37: 8:143956566-143956566
GRCh38: 8:142875150-142875150
9 CYP11B1 NM_000497.3(CYP11B1):c.*670A>C SNV Uncertain significance 362131 rs879537131 GRCh37: 8:143955119-143955119
GRCh38: 8:142873703-142873703
10 CYP11B1 NM_000497.3(CYP11B1):c.*1770A>T SNV Uncertain significance 362105 rs369448045 GRCh37: 8:143954019-143954019
GRCh38: 8:142872603-142872603
11 CYP11B1 NM_000497.3(CYP11B1):c.*245C>G SNV Uncertain significance 362141 rs538608688 GRCh37: 8:143955544-143955544
GRCh38: 8:142874128-142874128
12 LOC106799834 , CYP11B2 NM_000498.3(CYP11B2):c.*504C>T SNV Uncertain significance 362185 rs201487778 GRCh37: 8:143992892-143992892
GRCh38: 8:142911476-142911476
13 CYP11B1 NM_000497.3(CYP11B1):c.*1590G>C SNV Uncertain significance 362107 rs886062733 GRCh37: 8:143954199-143954199
GRCh38: 8:142872783-142872783
14 LOC106799834 , CYP11B2 NM_000498.3(CYP11B2):c.800-14T>C SNV Uncertain significance 362211 rs563246146 GRCh37: 8:143995848-143995848
GRCh38: 8:142914432-142914432
15 LOC106799834 , CYP11B2 NM_000498.3(CYP11B2):c.*204C>G SNV Uncertain significance 362190 rs773811282 GRCh37: 8:143993192-143993192
GRCh38: 8:142911776-142911776
16 CYP11B1 NM_000497.3(CYP11B1):c.*1209C>T SNV Uncertain significance 362117 rs757505651 GRCh37: 8:143954580-143954580
GRCh38: 8:142873164-142873164
17 CYP11B1 NM_000497.3(CYP11B1):c.*1435T>C SNV Uncertain significance 362112 rs551125657 GRCh37: 8:143954354-143954354
GRCh38: 8:142872938-142872938
18 LOC106799834 , CYP11B2 NM_000498.3(CYP11B2):c.*299G>A SNV Uncertain significance 362187 rs528171695 GRCh37: 8:143993097-143993097
GRCh38: 8:142911681-142911681
19 LOC106799833 , CYP11B1 NM_000497.3(CYP11B1):c.413G>A (p.Arg138His) SNV Uncertain significance 35989 rs193922540 GRCh37: 8:143958621-143958621
GRCh38: 8:142877205-142877205
20 LOC106799833 , CYP11B1 NM_000497.4(CYP11B1):c.450G>A (p.Ser150=) SNV Uncertain significance 912290 GRCh37: 8:143958584-143958584
GRCh38: 8:142877168-142877168
21 LOC106799833 , CYP11B1 NM_000497.4(CYP11B1):c.541C>T (p.Arg181Trp) SNV Uncertain significance 912289 GRCh37: 8:143958493-143958493
GRCh38: 8:142877077-142877077
22 LOC106799833 , CYP11B1 NM_000497.4(CYP11B1):c.912C>G (p.Ile304Met) SNV Uncertain significance 912228 GRCh37: 8:143957699-143957699
GRCh38: 8:142876283-142876283
23 CYP11B1 NM_000497.3(CYP11B1):c.*485C>G SNV Uncertain significance 362136 rs886062737 GRCh37: 8:143955304-143955304
GRCh38: 8:142873888-142873888
24 LOC106799834 , CYP11B2 NM_000498.3(CYP11B2):c.*431A>C SNV Uncertain significance 362186 rs886062742 GRCh37: 8:143992965-143992965
GRCh38: 8:142911549-142911549
25 CYP11B1 NM_000497.3(CYP11B1):c.*1622C>T SNV Uncertain significance 362106 rs543935807 GRCh37: 8:143954167-143954167
GRCh38: 8:142872751-142872751
26 CYP11B1 NM_000497.3(CYP11B1):c.*613A>G SNV Uncertain significance 362133 rs1137480 GRCh37: 8:143955176-143955176
GRCh38: 8:142873760-142873760
27 LOC106799834 , CYP11B2 NM_000498.3(CYP11B2):c.*972C>G SNV Uncertain significance 362175 rs886062740 GRCh37: 8:143992424-143992424
GRCh38: 8:142911008-142911008
28 LOC106799834 , CYP11B2 NM_000498.3(CYP11B2):c.*743C>T SNV Uncertain significance 362179 rs886062741 GRCh37: 8:143992653-143992653
GRCh38: 8:142911237-142911237
29 CYP11B1 NM_000497.3(CYP11B1):c.*901G>A SNV Uncertain significance 362124 rs748103274 GRCh37: 8:143954888-143954888
GRCh38: 8:142873472-142873472
30 LOC106799834 , CYP11B2 NM_000498.3(CYP11B2):c.342G>A (p.Glu114=) SNV Uncertain significance 766470 rs779683417 GRCh37: 8:143998528-143998528
GRCh38: 8:142917112-142917112
31 LOC106799833 , CYP11B1 NM_000497.4(CYP11B1):c.1399-14G>A SNV Uncertain significance 931327 GRCh37: 8:143955916-143955916
GRCh38: 8:142874500-142874500
32 LOC106799834 , CYP11B2 NM_000498.3(CYP11B2):c.*746G>A SNV Uncertain significance 362177 rs570202161 GRCh37: 8:143992650-143992650
GRCh38: 8:142911234-142911234
33 LOC106799834 , CYP11B2 NM_000498.3(CYP11B2):c.591A>G (p.Ile197Met) SNV Uncertain significance 362218 rs886062744 GRCh37: 8:143996466-143996466
GRCh38: 8:142915050-142915050
34 CYP11B1 NM_000497.3(CYP11B1):c.*737C>T SNV Uncertain significance 362128 rs748684062 GRCh37: 8:143955052-143955052
GRCh38: 8:142873636-142873636
35 LOC106799833 , CYP11B1 NM_000497.3(CYP11B1):c.748C>T (p.Pro250Ser) SNV Uncertain significance 362161 rs753471858 GRCh37: 8:143958149-143958149
GRCh38: 8:142876733-142876733
36 CYP11B1 NM_000497.3(CYP11B1):c.*857T>C SNV Uncertain significance 362125 rs370725779 GRCh37: 8:143954932-143954932
GRCh38: 8:142873516-142873516
37 LOC106799834 , CYP11B2 NM_000498.3(CYP11B2):c.*789G>A SNV Uncertain significance 362176 rs61763990 GRCh37: 8:143992607-143992607
GRCh38: 8:142911191-142911191
38 LOC106799834 , CYP11B2 NM_000498.3(CYP11B2):c.*1047C>T SNV Uncertain significance 362174 rs886062739 GRCh37: 8:143992349-143992349
GRCh38: 8:142910933-142910933
39 CYP11B1 NM_000497.3(CYP11B1):c.*1164G>A SNV Uncertain significance 362118 rs886062735 GRCh37: 8:143954625-143954625
GRCh38: 8:142873209-142873209
40 CYP11B1 NM_000497.3(CYP11B1):c.*400C>T SNV Uncertain significance 362139 rs61752801 GRCh37: 8:143955389-143955389
GRCh38: 8:142873973-142873973
41 CYP11B1 NM_000497.3(CYP11B1):c.*495C>T SNV Uncertain significance 362135 rs886062736 GRCh37: 8:143955294-143955294
GRCh38: 8:142873878-142873878
42 LOC106799834 , CYP11B2 NM_000498.3(CYP11B2):c.845G>A (p.Arg282His) SNV Uncertain significance 911712 GRCh37: 8:143995789-143995789
GRCh38: 8:142914373-142914373
43 LOC106799834 , CYP11B2 NM_000498.3(CYP11B2):c.*25A>C SNV Uncertain significance 911520 GRCh37: 8:143993371-143993371
GRCh38: 8:142911955-142911955
44 LOC106799834 , CYP11B2 NM_000498.3(CYP11B2):c.*876C>A SNV Uncertain significance 911397 GRCh37: 8:143992520-143992520
GRCh38: 8:142911104-142911104
45 LOC106799834 , CYP11B2 NM_000498.3(CYP11B2):c.*879G>A SNV Uncertain significance 911396 GRCh37: 8:143992517-143992517
GRCh38: 8:142911101-142911101
46 CYP11B1 NM_000497.4(CYP11B1):c.206A>G (p.His69Arg) SNV Uncertain significance 911340 GRCh37: 8:143961024-143961024
GRCh38: 8:142879608-142879608
47 CYP11B1 NM_000497.4(CYP11B1):c.218A>G (p.Gln73Arg) SNV Uncertain significance 911339 GRCh37: 8:143961012-143961012
GRCh38: 8:142879596-142879596
48 LOC106799834 , CYP11B2 NM_000498.3(CYP11B2):c.*591T>G SNV Uncertain significance 911266 GRCh37: 8:143992805-143992805
GRCh38: 8:142911389-142911389
49 LOC106799834 , CYP11B2 NM_000498.3(CYP11B2):c.*613C>T SNV Uncertain significance 911265 GRCh37: 8:143992783-143992783
GRCh38: 8:142911367-142911367
50 LOC106799834 , CYP11B2 NM_000498.3(CYP11B2):c.*993A>G SNV Uncertain significance 911201 GRCh37: 8:143992403-143992403
GRCh38: 8:142910987-142910987
Sources

Expression for Hyperaldosteronism, Familial, Type I

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Search GEO for disease gene expression data for Hyperaldosteronism, Familial, Type I.
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Pathways for Hyperaldosteronism, Familial, Type I

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Pathways related to Hyperaldosteronism, Familial, Type I according to KEGG:

36
# Name Kegg Source Accession
1 Steroid hormone biosynthesis hsa00140

Pathways related to Hyperaldosteronism, Familial, Type I according to GeneCards Suite gene sharing:

(show all 19)
# Super pathways Score Top Affiliating Genes
1
Myometrial Relaxation and Contraction Pathways 1
Show member pathways
 12.37 KCNJ5 CACNA1D ATP2B3 ATP1A4
2
cGMP-PKG signaling pathway 36
Show member pathways
 12.36 CACNA1D ATP2B3 ATP1A4 ATP1A1 AGT
3
Ion channel transport 65
Show member pathways
 12.33 WNK4 WNK1 ATP2B3 ATP1A4 ATP1A1
4
cAMP signaling pathway 36
12.14 POMC CACNA1D ATP2B3 ATP1A4 ATP1A1
5
Aldosterone synthesis and secretion 36
Show member pathways
 12.09 POMC KCNJ5 CYP11B2 CYP11B1 CACNA1H CACNA1D
6
Hepatic ABC Transporters 63
Show member pathways
 11.85 CACNA1D ATP1A4 ATP1A1
7
Corticotropin-releasing hormone signaling pathway 1
11.71 POMC CYP11B1 CACNA1H
8
Cardiac muscle contraction 36
11.67 CACNA1D ATP1A4 ATP1A1
9
Metabolism of steroid hormones 65
Show member pathways
 11.57 POMC HSD11B2 CYP11B2 CYP11B1
10
Renin secretion 36
11.56 REN CACNA1D AGT
11
Steroid hormone biosynthesis 36
Show member pathways
 11.54 HSD11B2 CYP11B2 CYP11B1
12
Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics 60
Show member pathways
 11.53 REN NR3C2 CYP11B2 AGT
13
GnRH secretion 36
11.51 KCNJ5 CACNA1H CACNA1D
14
Mineral absorption 36
11.46 ATP2B3 ATP1A4 ATP1A1
15
Endocrine and other factor-regulated calcium reabsorption 36
11.4 ATP2B3 ATP1A4 ATP1A1
16
Carbohydrate digestion and absorption 36
11.33 CACNA1D ATP1A4 ATP1A1
17
Antiarrhythmic Pathway, Pharmacodynamics 60
11.31 KCNJ5 CACNA1H CACNA1D ATP1A1
18
Aldosterone-regulated sodium reabsorption 36
11.02 NR3C2 HSD11B2 ATP1A4 ATP1A1
19
Diuretics Pathway, Pharmacodynamics 60
10.72 WNK4 WNK1 ATP1A1 ADD1
Sources

GO Terms for Hyperaldosteronism, Familial, Type I

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Cellular components related to Hyperaldosteronism, Familial, Type I according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sodium:potassium-exchanging ATPase complex GO:0005890 8.62 ATP1A4 ATP1A1

Biological processes related to Hyperaldosteronism, Familial, Type I according to GeneCards Suite gene sharing:

(show all 29)
# Name GO ID Score Top Affiliating Genes
1 ion transmembrane transport GO:0034220 9.88 KCNJ5 CACNA1H CACNA1D ATP2B3 ATP1A4 ATP1A1
2 ion transport GO:0006811 9.86 WNK4 WNK1 KCNJ5 CACNA1H CACNA1D ATP2B3
3 potassium ion import across plasma membrane GO:1990573 9.74 KCNJ5 ATP1A4 ATP1A1
4 regulation of cardiac conduction GO:1903779 9.73 ATP2B3 ATP1A4 ATP1A1 AGT
5 cellular response to hormone stimulus GO:0032870 9.7 CYP11B2 CYP11B1 CACNA1H
6 ion homeostasis GO:0050801 9.64 WNK4 WNK1
7 regulation of sodium ion transport GO:0002028 9.64 WNK1 ATP1A1
8 cardiac muscle cell action potential involved in contraction GO:0086002 9.63 CACNA1D ATP1A1
9 sodium ion export across plasma membrane GO:0036376 9.63 ATP1A4 ATP1A1
10 cellular sodium ion homeostasis GO:0006883 9.63 ATP1A4 ATP1A1 AGT
11 cellular potassium ion homeostasis GO:0030007 9.62 ATP1A4 ATP1A1
12 cellular response to steroid hormone stimulus GO:0071383 9.62 NR3C1 ATP1A1
13 establishment or maintenance of transmembrane electrochemical gradient GO:0010248 9.61 ATP1A4 ATP1A1
14 C21-steroid hormone biosynthetic process GO:0006700 9.61 CYP11B2 CYP11B1
15 intracellular steroid hormone receptor signaling pathway GO:0030518 9.6 NR3C2 NR3C1
16 positive regulation of sodium ion transmembrane transporter activity GO:2000651 9.59 WNK4 WNK1
17 positive regulation of potassium ion import GO:1903288 9.58 WNK4 WNK1
18 negative regulation of sodium ion transport GO:0010766 9.58 WNK4 WNK1
19 negative regulation of pancreatic juice secretion GO:0090188 9.56 WNK4 WNK1
20 renin-angiotensin regulation of aldosterone production GO:0002018 9.55 REN AGT
21 regulation of blood pressure GO:0008217 9.55 REN POMC CYP11B1 ATP1A1 AGT
22 cortisol metabolic process GO:0034650 9.54 CYP11B2 CYP11B1
23 cellular response to potassium ion GO:0035865 9.54 CYP11B2 CYP11B1 CACNA1H
24 regulation of cellular process GO:0050794 9.51 WNK4 WNK1
25 glucocorticoid biosynthetic process GO:0006704 9.5 HSD11B2 CYP11B2 CYP11B1
26 regulation of blood volume by renal aldosterone GO:0002017 9.49 HSD11B2 CYP11B2
27 regulation of blood volume by renin-angiotensin GO:0002016 9.48 REN AGT
28 cortisol biosynthetic process GO:0034651 9.13 CYP11B2 CYP11B1 CACNA1H
29 aldosterone biosynthetic process GO:0032342 8.8 CYP11B2 CYP11B1 CACNA1H

Molecular functions related to Hyperaldosteronism, Familial, Type I according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ankyrin binding GO:0030506 9.48 CACNA1D ATP1A1
2 cation-transporting ATPase activity GO:0019829 9.46 ATP2B3 ATP1A4
3 chloride channel inhibitor activity GO:0019869 9.43 WNK4 WNK1
4 sodium:potassium-exchanging ATPase activity GO:0005391 9.4 ATP1A4 ATP1A1
5 potassium channel inhibitor activity GO:0019870 9.37 WNK4 WNK1
6 steroid binding GO:0005496 9.33 NR3C2 NR3C1 HSD11B2
7 potassium-transporting ATPase activity GO:0008556 9.32 ATP1A4 ATP1A1
8 steroid hormone binding GO:1990239 9.26 NR3C1 ATP1A1
9 corticosterone 18-monooxygenase activity GO:0047783 8.96 CYP11B2 CYP11B1
10 steroid 11-beta-monooxygenase activity GO:0004507 8.62 CYP11B2 CYP11B1
Sources

Sources for Hyperaldosteronism, Familial, Type I

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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