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HALD1
MCID: HYP731
MIFTS: 60

Hyperaldosteronism, Familial, Type I (HALD1)

Categories: Blood diseases, Cardiovascular diseases, Endocrine diseases, Genetic diseases, Nephrological diseases, Rare diseases
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Aliases & Classifications for Hyperaldosteronism, Familial, Type I

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MalaCards integrated aliases for Hyperaldosteronism, Familial, Type I:

IMPROVED
Name: Hyperaldosteronism, Familial, Type I 57
Glucocorticoid-Remediable Aldosteronism 57 11 19 58 73 28 53 5 43 14 71
Familial Hyperaldosteronism Type 1 19 58 71
Gra 57 58 73
Glucocorticoid-Suppressible Hyperaldosteronism 57 73
Acth-Dependent Hyperaldosteronism Syndrome 57 73
Aldosteronism, Glucocorticoid-Remediable 57 12
Glucocorticoid Sensitive Hypertension 19 73
Dexamethasone Sensitive Hypertension 19 73
Hyperaldosteronism, Familial Type 1 19 75
Familial Hyperaldosteronism Type I 58 73
Hald1 57 73
Fh I 57 73
Gsh 57 73
Fh1 58 73
Aldosteronism, Sensitive to Dexamethasone 57
Aldosteronism Sensitive to Dexamethasone 73
Glucocorticoid-Sensitive Hypertension 58
Dexamethasone-Sensitive Hypertension 58
Hyperaldosteronism, Familial, 1 73
Familial Hyperaldosteronism 1 73
Familial Aldosteronism Type I 71
Fh Type 1 73
Fh-I 58

Characteristics:


Inheritance:

Hyperaldosteronism, Familial, Type I: Autosomal dominant 57
Familial Hyperaldosteronism Type I: Autosomal dominant 58

Age Of Onset:

Familial Hyperaldosteronism Type I: Adolescent,Adult,Childhood 58

Age Of Death:

Familial Hyperaldosteronism Type I: normal life expectancy 58

OMIM®:

57 (Updated 24-Oct-2022)
Miscellaneous:
variable phenotypic expression
variable age at onset (childhood to adult)
chimeric cyp11b1/cyp11b2 gene is an anti-lepore-like fusion product


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Cardiovascular diseases Nephrological diseases Endocrine diseases Blood diseases
See all MalaCards categories (disease lists)
ICD10: 32
Orphanet: 58  
Rare circulatory system diseases
Rare renal diseases
Rare endocrine diseases


External Ids:

Disease Ontology 11 DOID:14080
OMIM® 57 103900
OMIM Phenotypic Series 57 PS103900
ICD9CM 34 255.11
NCIt 49 C123248
SNOMED-CT 68 237743003
ICD10 via Orphanet 32 E26.0
UMLS via Orphanet 72 C1260386
Orphanet 58 ORPHA403
MedGen 40 C1260386
UMLS 71 C1260385 C1260386 C3838731
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Summaries for Hyperaldosteronism, Familial, Type I

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GARD: 19 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. 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.

MalaCards based summary: Hyperaldosteronism, Familial, Type I, also known as glucocorticoid-remediable aldosteronism, is related to familial hyperaldosteronism and bartter disease. 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 Diseases of glycosylation and Metabolism of steroids. The drug glucocorticoids has been mentioned in the context of this disorder. Affiliated tissues include kidney, monocytes and myeloid, and related phenotypes are hypertension and dexamethasone-suppressible primary hyperaldosteronism

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 24-Oct-2022)

Orphanet: 58 A rare heritable, glucocorticoid remediable form of primary aldosteronism (PA) characterized by early-onset hypertension, hyperaldosteronism, variable hypokalemia, low plasma renin activity (PRA), and abnormal production of 18-oxocortisol and 18-hydroxycortisol.

UniProtKB/Swiss-Prot: 73 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: 75 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 457)
# Related Disease Score Top Affiliating Genes
1 familial hyperaldosteronism 32.6 LOC106799833 CACNA1H
2 bartter disease 30.6 WNK4 WNK1 REN
3 adenoma 30.3 REN POMC MC2R HSD11B2 CYP11B2 CYP11B1
4 post-traumatic stress disorder 30.1 POMC NR3C2 NR3C1
5 apparent mineralocorticoid excess 30.0 WNK4 REN POMC NR3C2 HSD11B2 CYP11B2
6 acute stress disorder 29.9 POMC NR3C1
7 hypokalemia 29.7 WNK4 REN POMC NR3C2 NR3C1 KCNJ5
8 lipid metabolism disorder 29.6 REN POMC CYP17A1 CYP11B1
9 metabolic acidosis 29.4 WNK4 WNK1 REN
10 adrenal cortical adenoma 29.3 REN POMC MC2R CYP17A1 CYP11B1
11 body mass index quantitative trait locus 11 29.0 REN POMC NR3C2 NR3C1 MC2R HSD11B2
12 type 2 diabetes mellitus 28.8 REN POMC NR3C2 NR3C1 KCNJ5 HSD11B2
13 conn's syndrome 28.6 WNK4 WNK1 REN POMC NR3C2 NR3C1
14 hypertension, essential 28.2 WNK4 WNK1 REN POMC NR3C2 NR3C1
15 adrenal adenoma 27.9 REN POMC NR3C2 MC2R KCNJ5 HSD11B2
16 hyperaldosteronism, familial, type iii 11.4
17 hyperaldosteronism, familial, type ii 11.0
18 acetaminophen metabolism 11.0
19 glutathione synthetase deficiency of erythrocytes 11.0
20 toxoplasmosis 10.5
21 aldosterone-producing adenoma 10.5
22 adrenal hyperplasia, congenital, due to steroid 11-beta-hydroxylase deficiency 10.3 LOC106799833 CYP11B1
23 premenstrual tension 10.3 REN POMC
24 alzheimer disease 16 10.3 POMC NR3C1
25 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.3
26 hemorrhage, intracerebral 10.3
27 pre-eclampsia 10.3
28 vascular disease 10.3
29 mediastinal lipomatosis 10.3 POMC NR3C1
30 ectopic cushing syndrome 10.3 POMC NR3C1
31 central pontine myelinolysis 10.3 REN POMC
32 neuroblastoma 10.3
33 hypoaldosteronism 10.3 REN POMC CYP11B2
34 hypertensive retinopathy 10.3 REN NR3C2
35 ovarian serous adenofibroma 10.3 POMC NR3C1
36 hyperchlorhidrosis, isolated 10.3 POMC NR3C2
37 hypertensive heart disease 10.3 REN NR3C2 CYP11B2
38 hypoascorbemia 10.3
39 atypical depressive disorder 10.2 POMC NR3C2 NR3C1
40 miliaria rubra 10.2 WNK4 NR3C2
41 toxic encephalopathy 10.2
42 multicystic dysplastic kidney 10.2 REN AGT
43 postpartum depression 10.2 POMC NR3C1 HSD11B2
44 renal artery disease 10.2 REN AGT
45 supine hypotensive syndrome 10.2 REN NR3C2
46 hypokalemic periodic paralysis, type 1 10.2 REN KCNJ5 CACNA1D
47 nelson syndrome 10.2 POMC NR3C1
48 parkinson disease, late-onset 10.2
49 melanoma 10.2
50 corticosterone methyloxidase type i deficiency 10.2 REN POMC CYP11B2 CYP11B1

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 30 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertension 58 30 Obligate (100%) Obligate (100%)
 HP:0000822
2 dexamethasone-suppressible primary hyperaldosteronism 30 Obligate (100%) HP:0011739
3 adrenal hyperplasia 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0008221
4 abnormal circulating renin 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0040084
5 muscle weakness 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0001324
6 polydipsia 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0001959
7 hypokalemia 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0002900
8 epistaxis 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0000421
9 intracranial hemorrhage 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0002170
10 headache 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0002315
11 tinnitus 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0000360
12 preeclampsia 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0100602
13 nausea 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0002018
14 secretory adrenocortical adenoma 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0011746
15 caesarian section 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0011410
16 hyperaldosteronism 30 HP:0000859
17 abnormality of the urinary system 30 HP:0000079
18 dexamethasone-suppresible primary hyperaldosteronism 58 Obligate (100%)
19 decreased circulating renin level 30 HP:0003351
20 adrenogenital syndrome 30 HP:0000840

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
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 24-Oct-2022)

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Reduced mammosphere formation GR00396-S 9.28 ATP1A1 ATP1A4 CYP11B1 HSD11B2 KCNJ5 MC2R

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.18 AGT CACNA1D CACNA1H CLCN2 CYP11B1 CYP11B2
2 renal/urinary system MP:0005367 10.11 AGT CLCN2 CYP11B1 CYP11B2 HSD11B2 NR3C1
3 homeostasis/metabolism MP:0005376 10.03 AGT ATP1A1 CACNA1D CLCN2 CYP11B1 CYP11B2
4 muscle MP:0005369 10.02 AGT ATP1A1 CACNA1H CYP11B1 CYP11B2 HSD11B2
5 cardiovascular system MP:0005385 9.89 AGT ATP1A1 CACNA1D CACNA1H CLCN2 CYP11B1
6 adipose tissue MP:0005375 9.8 AGT CYP11B1 CYP11B2 CYP17A1 MC2R NR3C1
7 behavior/neurological MP:0005386 9.5 AGT ATP1A1 ATP2B3 CACNA1D CACNA1H CLCN2
Sources

Drugs & Therapeutics for Hyperaldosteronism, Familial, Type I

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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 Study of Prevalence and Clinical Phenotype in Patients With Glucocorticoid-Remediable Aldosteronism Completed NCT00004354
2 Diagnosis/Pathophysiology of Glucocorticoid Remediable Aldosteronism Hypertension Completed NCT00005394

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 Glucocorticoid-Remediable Aldosteronism 28 CYP11B1
Sources

Anatomical Context for Hyperaldosteronism, Familial, Type I

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Organs/tissues related to Hyperaldosteronism, Familial, Type I:

MalaCards : Kidney, Monocytes, Myeloid, Endothelial, Heart, Liver
Sources

Publications for Hyperaldosteronism, Familial, Type I

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Articles related to Hyperaldosteronism, Familial, Type I:

(show top 50) (show all 375)
# Title Authors PMID Year
1
A chimaeric 11 beta-hydroxylase/aldosterone synthase gene causes glucocorticoid-remediable aldosteronism and human hypertension. 62 57 5
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). 53 62 5
15324322 2004
3
Genetic study of patients with dexamethasone-suppressible aldosteronism without the chimeric CYP11B1/CYP11B2 gene. 53 62 57
11600544 2001
4
Treatment of familial hyperaldosteronism type I: only partial suppression of adrenocorticotropin required to correct hypertension. 53 62 57
10999827 2000
5
Severity of hypertension in familial hyperaldosteronism type I: relationship to gender and degree of biochemical disturbance. 53 62 57
10852446 2000
6
Glucocorticoid-suppressible hyperaldosteronism and adrenal tumors occurring in a single French pedigree. 53 62 57
7593610 1995
7
The chimeric gene linked to glucocorticoid-suppressible hyperaldosteronism encodes a fused P-450 protein possessing aldosterone synthase activity. 53 62 57
1472060 1992
8
Glucocorticoid remediable aldosteronism: low morbidity and mortality in a four-generation italian pedigree. 62 57
12107222 2002
9
Effects of 18-hydroxylated steroids on corticosteroid production by human aldosterone synthase and 11beta-hydroxylase. 62 57
11549669 2001
10
Biochemical evidence of aldosterone overproduction and abnormal regulation in normotensive individuals with familial hyperaldosteronism type I. 62 57
10566645 1999
11
Rapid diagnosis and identification of cross-over sites in patients with glucocorticoid remediable aldosteronism. 62 57
9851772 1998
12
Altered 11 beta-hydroxylase activity in glucocorticoid-suppressible hyperaldosteronism. 62 57
8964867 1996
13
Variation of phenotype in patients with glucocorticoid remediable aldosteronism. 62 57
8825044 1996
14
Genetic and pathophysiologic studies of a new kindred with glucocorticoid-suppressible hyperaldosteronism manifest in three generations. 62 57
7026592 1981
15
Glucocorticoid-suppressible hyperaldosteronism: a clue to the missing hormone? 62 57
6268977 1981
16
Anomalous postural aldosterone response in glucocorticoid-suppressible hyperaldosteronism. 62 57
6268979 1981
17
Non-tumorous "primary" aldosteronism. I. Type relieved by glucocorticoid (glucocorticoid-remediable aldosteronism). 62 57
5793351 1969
18
Heterogeneous hypertension. 57
7550315 1995
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. 53 62
18505761 2008
24
Adrenocortical hypertension. 53 62
16480676 2006
25
[Diagnosis and treatment outcome in primary aldosteronism based on a retrospective analysis of 187 cases]. 53 62
16509213 2006
26
Evidence for abnormal left ventricular structure and function in normotensive individuals with familial hyperaldosteronism type I. 53 62
15941863 2005
27
Genetic screening for glucocorticoid-remediable aldosteronism (GRA): experience of three clinical centres in Poland. 53 62
16110193 2005
28
Adrenocortical hypertension. 53 62
15128476 2004
29
Mendelian hypertension with brachydactyly as a molecular genetic lesson in regulatory physiology. 53 62
12959913 2003
30
[Monogenic hypertension]. 53 62
12715144 2003
31
New genetic insights in familial hyperaldosteronism. 53 62
12381543 2002
32
Familial varieties of primary aldosteronism. 53 62
11903322 2001
33
Familial hyperaldosteronism. 53 62
11595502 2001
34
Juvenile hypertension, the role of genetically altered steroid metabolism. 53 62
11740142 2001
35
Familial hyperaldosteronism. 53 62
11004715 2000
36
Primary hyperaldosteronism in essential hypertensives: prevalence, biochemical profile, and molecular biology. 53 62
10843166 2000
37
Evidence for persistent dysfunction of wild-type aldosterone synthase gene in glucocorticoid-treated familial hyperaldosteronism type I. 53 62
9488230 1997
38
A PCR-based method of screening individuals of all ages, from neonates to the elderly, for familial hyperaldosteronism type I. 53 62
9483237 1997
39
Inherited forms of mineralocorticoid hypertension. 53 62
8952579 1996
40
Aldosterone-producing adenomas do not contain glucocorticoid-remediable aldosteronism chimeric gene duplications. 53 62
8954032 1996
41
Production of 18-oxo-cortisol in subtypes of primary aldosteronism. 53 62
8800594 1996
42
Primary aldosteronism. 53 62
9221268 1995
43
Hybrid gene or hybrid steroids in the detection and screening for familial hyperaldosteronism type I. 53 62
8582097 1995
44
A new genetic test for familial hyperaldosteronism type I aids in the detection of curable hypertension. 53 62
7864844 1995
45
Glucocorticoid-remediable aldosteronism (GRA): diagnosis, variability of phenotype and regulation of potassium homeostasis. 53 62
7792815 1995
46
Genetics of primary aldosteronism. 53 62
7882585 1994
47
Disorders of steroid 11 beta-hydroxylase isozymes. 53 62
7988480 1994
48
Renin-aldosterone response to dexamethasone in glucocorticoid-suppressible hyperaldosteronism is altered by coexistent renal artery stenosis. 53 62
8396580 1993
49
Glucocorticoid-suppressible hyperaldosteronism results from hybrid genes created by unequal crossovers between CYP11B1 and CYP11B2. 53 62
1518866 1992
50
Hereditary hypertension caused by chimaeric gene duplications and ectopic expression of aldosterone synthase. 53 62
1303253 1992
Sources

Variations for Hyperaldosteronism, Familial, Type I

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

IMPROVED
5 (show top 50) (show all 216)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CYP11B1 CYP11B1, CYP11B1/CYP11B2 ANTI-LEPORE-LIKE CHIMERA VAR Pathogenic
 1172 GRCh37:
GRCh38:
2 LOC106799833, CYP11B1 NM_000497.4(CYP11B1):c.799G>A (p.Gly267Ser) SNV Pathogenic
 1685685 GRCh37: 8:143958098-143958098
GRCh38: 8:142876682-142876682
3 LOC106799833, CYP11B1 NM_000497.4(CYP11B1):c.1066C>T (p.Gln356Ter) SNV Pathogenic
 56830 rs146124466 GRCh37: 8:143957183-143957183
GRCh38: 8:142875767-142875767
4 LOC106799833, CYP11B1 NM_000497.4(CYP11B1):c.956C>T (p.Thr319Met) SNV Pathogenic
 1178 rs104894068 GRCh37: 8:143957293-143957293
GRCh38: 8:142875877-142875877
5 LOC106799833, CYP11B1 NM_000497.4(CYP11B1):c.890C>T (p.Ala297Val) SNV Likely Pathogenic
 1179123 GRCh37: 8:143957721-143957721
GRCh38: 8:142876305-142876305
6 LOC106799833, CYP11B1 NM_000497.4(CYP11B1):c.1151G>A (p.Arg384Gln) SNV Likely Pathogenic
 552238 rs764598023 GRCh37: 8:143956699-143956699
GRCh38: 8:142875283-142875283
7 LOC106799833, CYP11B1 NM_000497.4(CYP11B1):c.1343G>A (p.Arg448His) SNV Likely Pathogenic
 1171 rs28934586 GRCh37: 8:143956428-143956428
GRCh38: 8:142875012-142875012
8 LOC106799833, CYP11B1 NM_000497.4(CYP11B1):c.1205T>C (p.Leu402Ser) SNV Uncertain Significance
 362148 rs886062738 GRCh37: 8:143956566-143956566
GRCh38: 8:142875150-142875150
9 CYP11B1 NM_000497.4(CYP11B1):c.*670A>C SNV Uncertain Significance
 362131 rs879537131 GRCh37: 8:143955119-143955119
GRCh38: 8:142873703-142873703
10 LOC106799833, CYP11B1 NM_000497.4(CYP11B1):c.912C>G (p.Ile304Met) SNV Uncertain Significance
 912228 rs751843934 GRCh37: 8:143957699-143957699
GRCh38: 8:142876283-142876283
11 LOC106799833, CYP11B1 NM_000497.4(CYP11B1):c.541C>T (p.Arg181Trp) SNV Uncertain Significance
 912289 rs373856010 GRCh37: 8:143958493-143958493
GRCh38: 8:142877077-142877077
12 LOC106799833, CYP11B1 NM_000497.4(CYP11B1):c.413G>A (p.Arg138His) SNV Uncertain Significance
 35989 rs193922540 GRCh37: 8:143958621-143958621
GRCh38: 8:142877205-142877205
13 LOC106799833, CYP11B1 NM_000497.4(CYP11B1):c.1399-14G>A SNV Uncertain Significance
Benign
 931327 rs5295 GRCh37: 8:143955916-143955916
GRCh38: 8:142874500-142874500
14 LOC106799833, CYP11B1 NM_000497.4(CYP11B1):c.766C>T (p.His256Tyr) SNV Uncertain Significance
 932068 rs1816963218 GRCh37: 8:143958131-143958131
GRCh38: 8:142876715-142876715
15 LOC106799834, CYP11B2 NM_000498.3(CYP11B2):c.*504C>T SNV Uncertain Significance
 362185 rs201487778 GRCh37: 8:143992892-143992892
GRCh38: 8:142911476-142911476
16 LOC106799833, CYP11B1 NM_000497.4(CYP11B1):c.748C>T (p.Pro250Ser) SNV Uncertain Significance
 362161 rs753471858 GRCh37: 8:143958149-143958149
GRCh38: 8:142876733-142876733
17 CYP11B1 NM_000497.4(CYP11B1):c.*737C>T SNV Uncertain Significance
 362128 rs748684062 GRCh37: 8:143955052-143955052
GRCh38: 8:142873636-142873636
18 LOC106799833, CYP11B1 NM_000497.4(CYP11B1):c.632T>C (p.Leu211Pro) SNV Uncertain Significance
 910172 rs368125568 GRCh37: 8:143958265-143958265
GRCh38: 8:142876849-142876849
19 CYP11B1 NM_000497.4(CYP11B1):c.334A>C (p.Ser112Arg) SNV Uncertain Significance
 910243 rs770400476 GRCh37: 8:143960509-143960509
GRCh38: 8:142879093-142879093
20 CYP11B1 NM_000497.4(CYP11B1):c.263T>C (p.Met88Thr) SNV Uncertain Significance
 910244 rs1817062027 GRCh37: 8:143960580-143960580
GRCh38: 8:142879164-142879164
21 LOC106799834, CYP11B2 NM_000498.3(CYP11B2):c.*298C>A SNV Uncertain Significance
 909344 rs1380755213 GRCh37: 8:143993098-143993098
GRCh38: 8:142911682-142911682
22 LOC106799834, CYP11B2 NM_000498.3(CYP11B2):c.*205G>A SNV Uncertain Significance
 910310 rs1296538192 GRCh37: 8:143993191-143993191
GRCh38: 8:142911775-142911775
23 LOC106799834, CYP11B2 NM_000498.3(CYP11B2):c.1216T>G (p.Phe406Val) SNV Uncertain Significance
 910372 rs1817560561 GRCh37: 8:143994128-143994128
GRCh38: 8:142912712-142912712
24 LOC106799834, CYP11B2 NM_000498.3(CYP11B2):c.1201-9C>G SNV Uncertain Significance
 910373 rs750931398 GRCh37: 8:143994152-143994152
GRCh38: 8:142912736-142912736
25 LOC106799834, CYP11B2 NM_000498.3(CYP11B2):c.449C>T (p.Ser150Leu) SNV Uncertain Significance
 910598 rs768685630 GRCh37: 8:143996608-143996608
GRCh38: 8:142915192-142915192
26 CYP11B1 NM_000497.4(CYP11B1):c.*1623G>C SNV Uncertain Significance
 910703 rs997960869 GRCh37: 8:143954166-143954166
GRCh38: 8:142872750-142872750
27 CYP11B1 NM_000497.4(CYP11B1):c.*1313C>T SNV Uncertain Significance
 910763 rs973876982 GRCh37: 8:143954476-143954476
GRCh38: 8:142873060-142873060
28 CYP11B1 NM_000497.4(CYP11B1):c.*1296A>G SNV Uncertain Significance
 910764 rs1816841780 GRCh37: 8:143954493-143954493
GRCh38: 8:142873077-142873077
29 CYP11B1 NM_000497.4(CYP11B1):c.*1264A>C SNV Uncertain Significance
 910765 rs547356106 GRCh37: 8:143954525-143954525
GRCh38: 8:142873109-142873109
30 LOC106799833, CYP11B1 NM_000497.4(CYP11B1):c.957G>A (p.Thr319=) SNV Uncertain Significance
 910996 rs762599130 GRCh37: 8:143957292-143957292
GRCh38: 8:142875876-142875876
31 LOC106799833, CYP11B1 NM_000497.4(CYP11B1):c.595+14G>A SNV Uncertain Significance
 911052 rs1208266252 GRCh37: 8:143958425-143958425
GRCh38: 8:142877009-142877009
32 LOC106799834, CYP11B2 NM_000498.3(CYP11B2):c.*993A>G SNV Uncertain Significance
 911201 rs61763989 GRCh37: 8:143992403-143992403
GRCh38: 8:142910987-142910987
33 LOC106799834, CYP11B2 NM_000498.3(CYP11B2):c.*613C>T SNV Uncertain Significance
 911265 rs61757284 GRCh37: 8:143992783-143992783
GRCh38: 8:142911367-142911367
34 LOC106799834, CYP11B2 NM_000498.3(CYP11B2):c.*591T>G SNV Uncertain Significance
 911266 rs1817531890 GRCh37: 8:143992805-143992805
GRCh38: 8:142911389-142911389
35 CYP11B1 NM_000497.4(CYP11B1):c.218A>G (p.Gln73Arg) SNV Uncertain Significance
 911339 rs371662064 GRCh37: 8:143961012-143961012
GRCh38: 8:142879596-142879596
36 CYP11B1 NM_000497.4(CYP11B1):c.206A>G (p.His69Arg) SNV Uncertain Significance
 911340 rs747287245 GRCh37: 8:143961024-143961024
GRCh38: 8:142879608-142879608
37 LOC106799834, CYP11B2 NM_000498.3(CYP11B2):c.*879G>A SNV Uncertain Significance
 911396 rs375657023 GRCh37: 8:143992517-143992517
GRCh38: 8:142911101-142911101
38 LOC106799834, CYP11B2 NM_000498.3(CYP11B2):c.*876C>A SNV Uncertain Significance
 911397 rs1817525452 GRCh37: 8:143992520-143992520
GRCh38: 8:142911104-142911104
39 LOC106799834, CYP11B2 NM_000498.3(CYP11B2):c.*25A>C SNV Uncertain Significance
 911520 rs1817542488 GRCh37: 8:143993371-143993371
GRCh38: 8:142911955-142911955
40 LOC106799834, CYP11B2 NM_000498.3(CYP11B2):c.845G>A (p.Arg282His) SNV Uncertain Significance
 911712 rs769533897 GRCh37: 8:143995789-143995789
GRCh38: 8:142914373-142914373
41 LOC106799834, CYP11B2 NM_000498.3(CYP11B2):c.591A>G (p.Ile197Met) SNV Uncertain Significance
 362218 rs886062744 GRCh37: 8:143996466-143996466
GRCh38: 8:142915050-142915050
42 LOC106799834, CYP11B2 NM_000498.3(CYP11B2):c.*746G>A SNV Uncertain Significance
 362177 rs570202161 GRCh37: 8:143992650-143992650
GRCh38: 8:142911234-142911234
43 CYP11B1 NM_000497.4(CYP11B1):c.*1550C>T SNV Uncertain Significance
 911927 rs1425377435 GRCh37: 8:143954239-143954239
GRCh38: 8:142872823-142872823
44 CYP11B1 NM_000497.4(CYP11B1):c.*1253G>T SNV Uncertain Significance
 911986 rs1816842907 GRCh37: 8:143954536-143954536
GRCh38: 8:142873120-142873120
45 CYP11B1 NM_000497.4(CYP11B1):c.*390A>G SNV Uncertain Significance
 912092 rs558749828 GRCh37: 8:143955399-143955399
GRCh38: 8:142873983-142873983
46 CYP11B1 NM_000497.4(CYP11B1):c.*901G>A SNV Uncertain Significance
 362124 rs748103274 GRCh37: 8:143954888-143954888
GRCh38: 8:142873472-142873472
47 LOC106799834, CYP11B2 NM_000498.3(CYP11B2):c.*743C>T SNV Uncertain Significance
 362179 rs886062741 GRCh37: 8:143992653-143992653
GRCh38: 8:142911237-142911237
48 CYP11B1 NM_000497.4(CYP11B1):c.*1590G>C SNV Uncertain Significance
 362107 rs886062733 GRCh37: 8:143954199-143954199
GRCh38: 8:142872783-142872783
49 LOC106799834, CYP11B2 NM_000498.3(CYP11B2):c.*299G>A SNV Uncertain Significance
 362187 rs528171695 GRCh37: 8:143993097-143993097
GRCh38: 8:142911681-142911681
50 CYP11B1 NM_000497.4(CYP11B1):c.*1622C>T SNV Uncertain Significance
 362106 rs543935807 GRCh37: 8:143954167-143954167
GRCh38: 8:142872751-142872751
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 GeneCards Suite gene sharing:

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Diseases of glycosylation 66
Show member pathways
 12.5 POMC MC2R CYP17A1 CYP11B2 CYP11B1
2
Metabolism of steroids 66
Show member pathways
 12.39 POMC HSD11B2 CYP17A1 CYP11B2 CYP11B1
3
Myometrial relaxation and contraction pathways 74
Show member pathways
 12.3 KCNJ5 CACNA1D ATP2B3 ATP1A4
4
Ion channel transport 66
Show member pathways
 11.9 WNK4 WNK1 CLCN2 ATP2B3 ATP1A4 ATP1A1
5
Hepatic ABC Transporters 64
Show member pathways
 11.76 ATP1A1 ATP1A4 CACNA1D CLCN2
6
Potential therapeutics for SARS 66
11.67 NR3C1 ATP1A4 ATP1A1
7
Corticotropin-releasing hormone signaling pathway 74
11.61 POMC CYP11B1 CACNA1H
8
"Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics" 60
Show member pathways
 11.61 REN NR3C2 CYP11B2 AGT
9
"Antiarrhythmic Pathway, Pharmacodynamics" 60
11.2 KCNJ5 CACNA1H CACNA1D ATP1A1
10
Metabolic disorders of biological oxidation enzymes 66
11.11 CYP17A1 CYP11B2 CYP11B1
11
Metabolism of steroid hormones 66
Show member pathways
 11.01 POMC HSD11B2 CYP17A1 CYP11B2 CYP11B1
12
"Diuretics Pathway, Pharmacodynamics" 60
10.96 WNK4 WNK1 ATP1A1
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 membrane GO:0016020 9.81 WNK4 WNK1 REN NR3C2 NR3C1 MC2R
2 membrane GO:0016021 9.81 MC2R KCNJ5 HSD11B2 CLCN2 CACNA1H CACNA1D

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

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 sodium ion transmembrane transport GO:0035725 10.16 WNK4 WNK1 CACNA1H ATP1A4
2 regulation of ion transmembrane transport GO:0034765 10.12 CACNA1D CACNA1H CLCN2 KCNJ5
3 potassium ion import across plasma membrane GO:1990573 10.06 KCNJ5 ATP1A4 ATP1A1
4 cellular response to hormone stimulus GO:0032870 10.01 CYP11B2 CYP11B1 CACNA1H
5 steroid metabolic process GO:0008202 9.99 HSD11B2 CYP17A1 CYP11B2 CYP11B1
6 cellular sodium ion homeostasis GO:0006883 9.97 ATP1A4 ATP1A1 AGT
7 intracellular steroid hormone receptor signaling pathway GO:0030518 9.92 NR3C2 NR3C1
8 positive regulation of sodium ion transmembrane transporter activity GO:2000651 9.92 WNK1 WNK4
9 positive regulation of potassium ion import across plasma membrane GO:1903288 9.91 WNK4 WNK1
10 glucocorticoid metabolic process GO:0008211 9.91 NR3C1 HSD11B2
11 cellular response to potassium ion GO:0035865 9.91 CACNA1H CYP11B2 CYP11B1
12 negative regulation of sodium ion transport GO:0010766 9.9 WNK4 WNK1
13 steroid biosynthetic process GO:0006694 9.89 CYP17A1 CYP11B2 CYP11B1
14 glucocorticoid biosynthetic process GO:0006704 9.88 CYP17A1 CYP11B2 CYP11B1
15 C21-steroid hormone biosynthetic process GO:0006700 9.87 CYP11B2 CYP11B1
16 negative regulation of pancreatic juice secretion GO:0090188 9.85 WNK4 WNK1
17 cortisol metabolic process GO:0034650 9.85 HSD11B2 CYP11B2 CYP11B1
18 renin-angiotensin regulation of aldosterone production GO:0002018 9.83 REN AGT
19 aldosterone biosynthetic process GO:0032342 9.8 CACNA1H CYP11B1 CYP11B2
20 regulation of blood volume by renal aldosterone GO:0002017 9.78 HSD11B2 CYP11B2
21 ion transmembrane transport GO:0034220 9.76 ATP1A1 ATP1A4 ATP2B3 CACNA1D CACNA1H CLCN2
22 cortisol biosynthetic process GO:0034651 9.73 CACNA1H CYP11B1 CYP11B2
23 ion transport GO:0006811 9.73 ATP1A1 ATP1A4 ATP2B3 WNK4 CACNA1D CACNA1H
24 regulation of blood volume by renin-angiotensin GO:0002016 9.63 REN AGT
25 regulation of blood pressure GO:0008217 9.36 WNK1 REN POMC CYP11B1 ATP1A1 AGT

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 chloride channel inhibitor activity GO:0019869 9.8 WNK4 WNK1
2 steroid binding GO:0005496 9.8 HSD11B2 NR3C1 NR3C2
3 potassium channel inhibitor activity GO:0019870 9.78 WNK4 WNK1
4 P-type sodium:potassium-exchanging transporter activity GO:0005391 9.76 ATP1A4 ATP1A1
5 steroid hormone binding GO:1990239 9.73 NR3C1 ATP1A1
6 monooxygenase activity GO:0004497 9.69 CYP17A1 CYP11B2 CYP11B1
7 voltage-gated ion channel activity GO:0005244 9.65 KCNJ5 CLCN2 CACNA1H CACNA1D
8 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen GO:0016705 9.58 CYP17A1 CYP11B2 CYP11B1
9 corticosterone 18-monooxygenase activity GO:0047783 9.46 CYP11B2 CYP11B1
10 P-type potassium transmembrane transporter activity GO:0008556 9.37 ATP1A4 ATP1A1
11 steroid 11-beta-monooxygenase activity GO:0004507 9.26 CYP11B2 CYP11B1
12 ATPase-coupled cation transmembrane transporter activity GO:0019829 9.1 ATP2B3 ATP1A4 ATP1A1
Sources

Sources for Hyperaldosteronism, Familial, Type I

About this section
2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 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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