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HALD1
MCID: HYP731
MIFTS: 56

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 58 30 6
Glucocorticoid-Remediable Aldosteronism 58 12 54 60 76 38 56 45 15 74
Familial Hyperaldosteronism Type 1 54 60 74
Gra 58 60 76
Glucocorticoid-Suppressible Hyperaldosteronism 58 76
Acth-Dependent Hyperaldosteronism Syndrome 58 76
Aldosteronism, Glucocorticoid-Remediable 58 13
Glucocorticoid Sensitive Hypertension 54 76
Dexamethasone Sensitive Hypertension 54 76
Hyperaldosteronism, Familial Type 1 77 54
Familial Hyperaldosteronism Type I 60 76
Hald1 58 76
Fh I 58 76
Gsh 58 76
Fh1 60 76
Glucocorticoid-Suppressible Hyperaldosteronism; Gsh 58
Glucocorticoid-Remediable Aldosteronism; Gra 58
Aldosteronism, Sensitive to Dexamethasone 58
Aldosteronism Sensitive to Dexamethasone 76
Hyperaldosteronism, Familial, Type I ) 41
Glucocorticoid-Sensitive Hypertension 60
Dexamethasone-Sensitive Hypertension 60
Hyperaldosteronism, Familial, 1 76
Familial Hyperaldosteronism 1 76
Familial Aldosteronism Type I 74
Fh Type 1 76
Fh-I 60

Characteristics:

Orphanet epidemiological data:

60
familial hyperaldosteronism type i
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult,Childhood; Age of death: normal life expectancy;

OMIM:

58
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:

33
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: 35
Orphanet: 60  
Rare circulatory system diseases
Rare renal diseases
Rare endocrine diseases


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Summaries for Hyperaldosteronism, Familial, Type I

About this section
NIH Rare Diseases : 54 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.

MalaCards based summary : Hyperaldosteronism, Familial, Type I, also known as glucocorticoid-remediable aldosteronism, is related to aldosterone-producing adenoma and familial hyperaldosteronism. 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 Aldosterone synthesis and secretion. The drugs Atorvastatin and Simvastatin have been mentioned in the context of this disorder. Affiliated tissues include adrenal gland, prostate and lung, and related phenotypes are hypertension and dexamethasone-suppressible primary hyperaldosteronism

OMIM : 58 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)

UniProtKB/Swiss-Prot : 76 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 : 77 Hyperaldosteronism is a medical condition wherein too much aldosterone is produced by the adrenal... more...

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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

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

(show top 50) (show all 142)
# Related Disease Score Top Affiliating Genes
1 aldosterone-producing adenoma 30.4 CYP11B2 KCNJ5
2 familial hyperaldosteronism 30.4 CYP11B1 CYP11B2 KCNJ5
3 apparent mineralocorticoid excess 29.7 HSD11B2 NR3C2 REN
4 adenoma 29.3 CYP11B2 HSD11B2 KCNJ5 POMC
5 hypertension, essential 28.6 AGT CYP11B1 CYP11B2 HSD11B2 NR3C2 REN
6 conn's syndrome 28.2 CYP11B1 CYP11B2 HSD11B2 KCNJ5 NR3C2 POMC
7 hyperaldosteronism, familial, type iii 11.7
8 hyperaldosteronism, familial, type ii 11.2
9 intracranial aneurysm 10.2
10 burns 10.2
11 arthrogryposis, distal, type 3 10.2 NR3C2 REN
12 pseudohypoaldosteronism, type i, autosomal dominant 10.2 NR3C2 REN
13 pseudohypoaldosteronism 10.2 NR3C2 REN
14 pseudohypoaldosteronism, type i, autosomal recessive 10.2 NR3C2 REN
15 acute adrenal insufficiency 10.2 POMC REN
16 inappropriate adh syndrome 10.1 POMC REN
17 adrenal cortical adenoma 10.1 CYP11B1 POMC
18 lung cancer 10.1
19 cystic fibrosis 10.1
20 horns in sheep 10.1
21 adrenal cortical hypofunction 10.1 POMC REN
22 cystic kidney disease 10.1
23 familial glucocorticoid deficiency 10.1 POMC REN
24 heart valve disease 10.1 NR3C2 REN
25 premenstrual tension 10.1 POMC REN
26 aortic coarctation 10.1 AGT CYP11B2
27 mineral metabolism disease 10.1 POMC REN
28 potter's syndrome 10.1 AGT REN
29 breast cancer 10.1
30 leukemia 10.1
31 hypoxia 10.1
32 renal artery disease 10.1 AGT REN
33 transposition of the great arteries 10.1
34 malignant hypertension 10.1 AGT REN
35 toxoplasmosis 10.1
36 nonalcoholic steatohepatitis 10.1
37 splenomegaly 10.1
38 fibromuscular dysplasia 10.1 AGT REN
39 renal tubular acidosis 10.1 NR3C2 REN
40 diabetes insipidus 10.1 POMC REN
41 renal tubular dysgenesis 10.0 AGT REN
42 vesicoureteral reflux 1 10.0 AGT REN
43 gitelman syndrome 10.0 AGT REN
44 neuroblastoma 1 10.0
45 cataract 10.0
46 glioblastoma 10.0
47 interstitial nephritis 10.0 AGT REN
48 renal fibrosis 10.0 NR3C2 REN
49 obstructive nephropathy 10.0 AGT REN
50 oligohydramnios 10.0 AGT REN

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:

60 33 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertension 60 33 obligate (100%) Obligate (100%) HP:0000822
2 dexamethasone-suppressible primary hyperaldosteronism 33 obligate (100%) HP:0011739
3 adrenal hyperplasia 60 33 hallmark (90%) Very frequent (99-80%) HP:0008221
4 abnormal circulating renin 60 33 hallmark (90%) Very frequent (99-80%) HP:0040084
5 muscle weakness 60 33 occasional (7.5%) Occasional (29-5%) HP:0001324
6 polydipsia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001959
7 hypokalemia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002900
8 headache 60 33 occasional (7.5%) Occasional (29-5%) HP:0002315
9 epistaxis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000421
10 intracranial hemorrhage 60 33 occasional (7.5%) Occasional (29-5%) HP:0002170
11 preeclampsia 60 33 occasional (7.5%) Occasional (29-5%) HP:0100602
12 tinnitus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000360
13 nausea 60 33 occasional (7.5%) Occasional (29-5%) HP:0002018
14 caesarian section 60 33 occasional (7.5%) Occasional (29-5%) HP:0011410
15 secretory adrenocortical adenoma 60 33 occasional (7.5%) Occasional (29-5%) HP:0011746
16 hyperaldosteronism 33 HP:0000859
17 abnormality of the urinary system 33 HP:0000079
18 dexamethasone-suppresible primary hyperaldosteronism 60 Obligate (100%)
19 decreased circulating renin level 33 HP:0003351
20 adrenogenital syndrome 33 HP:0000840

Symptoms via clinical synopsis from OMIM:

58
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

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

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Reduced mammosphere formation GR00396-S 9.02 CYP11B1 HSD11B2 KCNJ5 NR3C2 POMC

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

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.86 AGT CYP11B1 CYP11B2 HSD11B2 KCNJ5 NR3C2
2 behavior/neurological MP:0005386 9.8 AGT CYP11B1 HSD11B2 NR3C2 POMC REN
3 homeostasis/metabolism MP:0005376 9.7 AGT CYP11B1 CYP11B2 HSD11B2 NR3C2 POMC
4 muscle MP:0005369 9.35 AGT CYP11B1 HSD11B2 NR3C2 REN
5 renal/urinary system MP:0005367 9.17 AGT CYP11B1 CYP11B2 HSD11B2 NR3C2 POMC
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):

(show all 11)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Atorvastatin Approved Phase 3 134523-00-5 60823
2
Simvastatin Approved Phase 3 79902-63-9 54454
3 Immunologic Factors Phase 3
4 Pharmaceutical Solutions Phase 3
5 Rosuvastatin Calcium Phase 3 147098-20-2
6 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 3
7 Antibodies Phase 3
8 Immunoglobulins Phase 3
9 Antibodies, Monoclonal Phase 3
10
Captopril Approved 62571-86-2 44093
11 glucocorticoids

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Efficacy and Safety of Alirocumab (SAR236553/REGN727) Versus Placebo on Top of Lipid-Modifying Therapy in Patients With Heterozygous Familial Hypercholesterolemia Not Adequately Controlled With Their Lipid-Modifying Therapy Completed NCT01623115 Phase 3 Alirocumab;Placebo (for alirocumab);Lipid Modifying Therapy (LMT)
2 Diagnosis/Pathophysiology of Glucocorticoid Remediable Aldosteronism Hypertension Completed NCT00005394
3 Study of Prevalence and Clinical Phenotype in Patients With Glucocorticoid-Remediable Aldosteronism Completed NCT00004354
4 Primary Aldosteronism In Hypertensive Patients in China Completed NCT03155139

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 30 CYP11B1
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Anatomical Context for Hyperaldosteronism, Familial, Type I

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

42
Adrenal Gland, Prostate, Lung, Kidney, Liver, Heart, Breast
Sources

Publications for Hyperaldosteronism, Familial, Type I

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Articles related to Hyperaldosteronism, Familial, Type I:

(show all 46)
# Title Authors Year
1
Glucocorticoid-remediable aldosteronism in a young adult with a family history of Conn's syndrome. ( 29445488 )
2018
2
A Case of Glucocorticoid Remediable Aldosteronism and Thoracoabdominal Aneurysms. ( 27366333 )
2016
3
Intracranial aneurysm in a patient with glucocorticoid-remediable aldosteronism. ( 26021674 )
2015
4
Delayed arterial switch operation for d-transposition of the great arteries and glucocorticoid remediable aldosteronism. ( 23804991 )
2011
5
Glucocorticoid-remediable aldosteronism. ( 21565670 )
2011
6
Diagnosis of glucocorticoid-remediable aldosteronism in hypertensive children. ( 21625068 )
2011
7
Genetic analyses of the chimeric CYP11B1/CYP11B2 gene in a Korean family with glucocorticoid-remediable aldosteronism. ( 20808686 )
2010
8
A German family with glucocorticoid-remediable aldosteronism. ( 17277347 )
2007
9
Glucocorticoid remediable aldosteronism (GRA) screening in hypertensive patients from a primary care setting. ( 15660117 )
2005
10
Genetic screening for glucocorticoid-remediable aldosteronism (GRA): experience of three clinical centres in Poland. ( 16110193 )
2005
11
Non-glucocorticoid-remediable aldosteronism in an infant with low-renin hypertension. ( 14648333 )
2004
12
Glucocorticoid-remediable aldosteronism. ( 14667264 )
2004
13
Coexistence of different phenotypes in a family with glucocorticoid-remediable aldosteronism. ( 14688810 )
2004
14
Glucocorticoid-remediable aldosteronism. ( 15761539 )
2004
15
Neonatal salt-wasting and 11 beta-hydroxylase deficiency in a child carrying a homozygous deletion hybrid CYP11B2 (aldosterone synthase)-CYP11B1 (11 beta-hydroxylase). ( 15324322 )
2004
16
Glucocorticoid remediable aldosteronism: low morbidity and mortality in a four-generation italian pedigree. ( 12107222 )
2002
17
Clinical and gene mutation studies on a Chinese pedigree with glucocorticoid-remediable aldosteronism. ( 12150724 )
2002
18
Is random screening of value in detecting glucocorticoid-remediable aldosteronism within a hypertensive population? ( 11317201 )
2001
19
Glucocorticoid-remediable aldosteronism is associated with severe hypertension in early childhood. ( 11343049 )
2001
20
Japanese family with glucocorticoid-remediable aldosteronism diagnosed by long-polymerase chain reaction. ( 11675955 )
2001
21
Glucocorticoid-remediable aldosteronism and pregnancy. ( 10679515 )
2000
22
Glucocorticoid-remediable aldosteronism. ( 10599685 )
1999
23
Abolished nocturnal blood pressure fall in a boy with glucocorticoid-remediable aldosteronism. ( 10618671 )
1999
24
Diagnosis of glucocorticoid-remediable aldosteronism in primary aldosteronism: aldosterone response to dexamethasone and long polymerase chain reaction for chimeric gene. ( 9661646 )
1998
25
Rapid diagnosis and identification of cross-over sites in patients with glucocorticoid remediable aldosteronism. ( 9851772 )
1998
26
Intracranial aneurysm and hemorrhagic stroke in glucocorticoid-remediable aldosteronism. ( 9453343 )
1998
27
Impaired potassium-stimulated aldosterone production: a possible explanation for normokalemic glucocorticoid-remediable aldosteronism. ( 9141541 )
1997
28
Glucocorticoid remediable aldosteronism: a case report. ( 9178594 )
1997
29
Evaluation of the dexamethasone suppression test for the diagnosis of glucocorticoid-remediable aldosteronism. ( 9360508 )
1997
30
Potassium and aldosterone secretion in glucocorticoid-remediable aldosteronism. ( 9398755 )
1997
31
Glucocorticoid-remediable aldosteronism. ( 8759241 )
1996
32
Variation of phenotype in patients with glucocorticoid remediable aldosteronism. ( 8825044 )
1996
33
Aldosterone-producing adenomas do not contain glucocorticoid-remediable aldosteronism chimeric gene duplications. ( 8954032 )
1996
34
Glucocorticoid remediable aldosteronism: a rare hereditary form of adrenocorticotropic hormone regulated mineralocorticoid hypertension. ( 7609119 )
1995
35
Glucocorticoid-remediable aldosteronism (GRA): diagnosis, variability of phenotype and regulation of potassium homeostasis. ( 7792815 )
1995
36
Glucocorticoid-remediable aldosteronism. ( 8565422 )
1995
37
Glucocorticoid-remediable aldosteronism. ( 9221269 )
1995
38
Glucocorticoid-remediable aldosteronism. ( 8070423 )
1994
39
Abnormality of aldosterone and cortisol late pathways in glucocorticoid-remediable aldosteronism. ( 8077359 )
1994
40
The molecular basis of a hereditary form of hypertension, glucocorticoid-remediable aldosteronism. ( 18407135 )
1993
41
The molecular basis of glucocorticoid-remediable aldosteronism, a Mendelian cause of human hypertension. ( 1309006 )
1992
42
Glucocorticoid-remediable aldosteronism in a large kindred: clinical spectrum and diagnosis using a characteristic biochemical phenotype. ( 1567095 )
1992
43
A chimaeric 11 beta-hydroxylase/aldosterone synthase gene causes glucocorticoid-remediable aldosteronism and human hypertension. ( 1731223 )
1992
44
Two uncommon causes of mineralocorticoid excess. Syndrome of apparent mineralocorticoid excess and glucocorticoid-remediable aldosteronism. ( 1879399 )
1991
45
Defective fasciculata zone function as the mechanism of glucocorticoid-remediable aldosteronism. ( 2172271 )
1990
46
Non-tumorous "primary" aldosteronism. I. Type relieved by glucocorticoid (glucocorticoid-remediable aldosteronism). ( 5793351 )
1969
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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 269)
# Gene Variation Type Significance SNP ID Assembly Location
1 CYP11B1 NM_000497.3(CYP11B1): c.*1852T> G single nucleotide variant Benign rs4736312 GRCh38 Chromosome 8, 142872521: 142872521
2 CYP11B1 NM_000497.3(CYP11B1): c.*1852T> G single nucleotide variant Benign rs4736312 GRCh37 Chromosome 8, 143953937: 143953937
3 CYP11B1 NM_000497.3(CYP11B1): c.*1770A> T single nucleotide variant Likely benign rs369448045 GRCh38 Chromosome 8, 142872603: 142872603
4 CYP11B1 NM_000497.3(CYP11B1): c.*1770A> T single nucleotide variant Likely benign rs369448045 GRCh37 Chromosome 8, 143954019: 143954019
5 CYP11B1 NM_000497.3(CYP11B1): c.*1499C> T single nucleotide variant Benign rs1134095 GRCh38 Chromosome 8, 142872874: 142872874
6 CYP11B1 NM_000497.3(CYP11B1): c.*1499C> T single nucleotide variant Benign rs1134095 GRCh37 Chromosome 8, 143954290: 143954290
7 CYP11B1 NM_000497.3(CYP11B1): c.*1258G> A single nucleotide variant Likely benign rs61752808 GRCh37 Chromosome 8, 143954531: 143954531
8 CYP11B1 NM_000497.3(CYP11B1): c.*1258G> A single nucleotide variant Likely benign rs61752808 GRCh38 Chromosome 8, 142873115: 142873115
9 CYP11B1 NM_000497.3(CYP11B1): c.*1076C> T single nucleotide variant Likely benign rs61752806 GRCh37 Chromosome 8, 143954713: 143954713
10 CYP11B1 NM_000497.3(CYP11B1): c.*1076C> T single nucleotide variant Likely benign rs61752806 GRCh38 Chromosome 8, 142873297: 142873297
11 CYP11B1 NM_000497.3(CYP11B1): c.*737C> T single nucleotide variant Uncertain significance rs748684062 GRCh37 Chromosome 8, 143955052: 143955052
12 CYP11B1 NM_000497.3(CYP11B1): c.*737C> T single nucleotide variant Uncertain significance rs748684062 GRCh38 Chromosome 8, 142873636: 142873636
13 CYP11B1 NM_000497.3(CYP11B1): c.*694T> C single nucleotide variant Benign rs5303 GRCh37 Chromosome 8, 143955095: 143955095
14 CYP11B1 NM_000497.3(CYP11B1): c.*694T> C single nucleotide variant Benign rs5303 GRCh38 Chromosome 8, 142873679: 142873679
15 CYP11B1 NM_000497.3(CYP11B1): c.*670A> C single nucleotide variant Uncertain significance rs879537131 GRCh37 Chromosome 8, 143955119: 143955119
16 CYP11B1 NM_000497.3(CYP11B1): c.*670A> C single nucleotide variant Uncertain significance rs879537131 GRCh38 Chromosome 8, 142873703: 142873703
17 CYP11B1 NM_000497.3(CYP11B1): c.*634G> A single nucleotide variant Likely benign rs1137481 GRCh37 Chromosome 8, 143955155: 143955155
18 CYP11B1 NM_000497.3(CYP11B1): c.*634G> A single nucleotide variant Likely benign rs1137481 GRCh38 Chromosome 8, 142873739: 142873739
19 CYP11B1 NM_000497.3(CYP11B1): c.*495C> T single nucleotide variant Uncertain significance rs886062736 GRCh37 Chromosome 8, 143955294: 143955294
20 CYP11B1 NM_000497.3(CYP11B1): c.*495C> T single nucleotide variant Uncertain significance rs886062736 GRCh38 Chromosome 8, 142873878: 142873878
21 CYP11B1 NM_000497.3(CYP11B1): c.*471A> C single nucleotide variant Benign rs12543598 GRCh38 Chromosome 8, 142873902: 142873902
22 CYP11B1 NM_000497.3(CYP11B1): c.*471A> C single nucleotide variant Benign rs12543598 GRCh37 Chromosome 8, 143955318: 143955318
23 CYP11B1 NM_000497.3(CYP11B1): c.1399-14G> C single nucleotide variant Benign rs5295 GRCh38 Chromosome 8, 142874500: 142874500
24 CYP11B1 NM_000497.3(CYP11B1): c.1399-14G> C single nucleotide variant Benign rs5295 GRCh37 Chromosome 8, 143955916: 143955916
25 CYP11B1 NM_000497.3(CYP11B1): c.1157C> T (p.Ala386Val) single nucleotide variant Benign rs4541 GRCh38 Chromosome 8, 142875277: 142875277
26 CYP11B1 NM_000497.3(CYP11B1): c.1157C> T (p.Ala386Val) single nucleotide variant Benign rs4541 GRCh37 Chromosome 8, 143956693: 143956693
27 CYP11B1 NM_000497.3(CYP11B1): c.1098T> G (p.Arg366=) single nucleotide variant Benign/Likely benign rs61752769 GRCh38 Chromosome 8, 142875735: 142875735
28 CYP11B1 NM_000497.3(CYP11B1): c.1098T> G (p.Arg366=) single nucleotide variant Benign/Likely benign rs61752769 GRCh37 Chromosome 8, 143957151: 143957151
29 CYP11B1 NM_000497.3(CYP11B1): c.1090T> C (p.Leu364=) single nucleotide variant Uncertain significance rs754660381 GRCh38 Chromosome 8, 142875743: 142875743
30 CYP11B1 NM_000497.3(CYP11B1): c.1090T> C (p.Leu364=) single nucleotide variant Uncertain significance rs754660381 GRCh37 Chromosome 8, 143957159: 143957159
31 CYP11B1 NM_000497.3(CYP11B1): c.1014G> A (p.Gln338=) single nucleotide variant Likely benign rs151335623 GRCh38 Chromosome 8, 142875819: 142875819
32 CYP11B1 NM_000497.3(CYP11B1): c.1014G> A (p.Gln338=) single nucleotide variant Likely benign rs151335623 GRCh37 Chromosome 8, 143957235: 143957235
33 CYP11B1 NM_000497.3(CYP11B1): c.1066C> T (p.Gln356Ter) single nucleotide variant Pathogenic rs146124466 GRCh38 Chromosome 8, 142875767: 142875767
34 CYP11B1 NM_000497.3(CYP11B1): c.1066C> T (p.Gln356Ter) single nucleotide variant Pathogenic rs146124466 GRCh37 Chromosome 8, 143957183: 143957183
35 CYP11B1 NM_000497.3(CYP11B1): c.243C> T (p.Tyr81=) single nucleotide variant Benign/Likely benign rs9657022 GRCh38 Chromosome 8, 142879184: 142879184
36 CYP11B1 NM_000497.3(CYP11B1): c.243C> T (p.Tyr81=) single nucleotide variant Benign/Likely benign rs9657022 GRCh37 Chromosome 8, 143960600: 143960600
37 CYP11B1 NM_000497.3(CYP11B1): c.1144C> T (p.Leu382=) single nucleotide variant Benign/Likely benign rs5293 GRCh38 Chromosome 8, 142875290: 142875290
38 CYP11B1 NM_000497.3(CYP11B1): c.1144C> T (p.Leu382=) single nucleotide variant Benign/Likely benign rs5293 GRCh37 Chromosome 8, 143956706: 143956706
39 CYP11B1 NM_000497.3(CYP11B1): c.1120C> A (p.Arg374=) single nucleotide variant Conflicting interpretations of pathogenicity rs61752786 GRCh38 Chromosome 8, 142875713: 142875713
40 CYP11B1 NM_000497.3(CYP11B1): c.1120C> A (p.Arg374=) single nucleotide variant Conflicting interpretations of pathogenicity rs61752786 GRCh37 Chromosome 8, 143957129: 143957129
41 CYP11B1 NM_000497.3(CYP11B1): c.1003A> G (p.Asn335Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs61752766 GRCh38 Chromosome 8, 142875830: 142875830
42 CYP11B1 NM_000497.3(CYP11B1): c.1003A> G (p.Asn335Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs61752766 GRCh37 Chromosome 8, 143957246: 143957246
43 CYP11B2 NM_000498.3(CYP11B2): c.1157T> C (p.Val386Ala) single nucleotide variant Benign rs61757294 GRCh38 Chromosome 8, 142912850: 142912850
44 CYP11B2 NM_000498.3(CYP11B2): c.1157T> C (p.Val386Ala) single nucleotide variant Benign rs61757294 GRCh37 Chromosome 8, 143994266: 143994266
45 CYP11B1 CYP11B1, CYP11B1/CYP11B2 ANTI-LEPORE-LIKE CHIMERA undetermined variant Pathogenic
46 CYP11B1 NM_000497.3(CYP11B1): c.954+9G> C single nucleotide variant Uncertain significance rs6411 GRCh38 Chromosome 8, 142876232: 142876232
47 CYP11B1 NM_000497.3(CYP11B1): c.954+9G> C single nucleotide variant Uncertain significance rs6411 GRCh37 Chromosome 8, 143957648: 143957648
48 CYP11B1 NM_000497.3(CYP11B1): c.823T> C (p.Tyr275His) single nucleotide variant Likely benign rs141368413 GRCh37 Chromosome 8, 143957788: 143957788
49 CYP11B1 NM_000497.3(CYP11B1): c.823T> C (p.Tyr275His) single nucleotide variant Likely benign rs141368413 GRCh38 Chromosome 8, 142876372: 142876372
50 CYP11B1 NM_000497.3(CYP11B1): c.748C> T (p.Pro250Ser) single nucleotide variant Uncertain significance rs753471858 GRCh37 Chromosome 8, 143958149: 143958149
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:

38
# Name Kegg Source Accession
1 Steroid hormone biosynthesis hsa00140

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

# Super pathways Score Top Affiliating Genes
1
Aldosterone synthesis and secretion 38
Show member pathways
 12.32 CYP11B1 CYP11B2 KCNJ5 POMC
2
Peptide hormone metabolism 67
Show member pathways
 11.69 AGT POMC REN
3
Renin secretion 38
11.24 AGT REN
4
Steroid hormone biosynthesis 38
Show member pathways
 10.95 CYP11B1 CYP11B2 HSD11B2
5
Aldosterone-regulated sodium reabsorption 38
10.94 HSD11B2 NR3C2
6
Metabolism of steroid hormones 67
Show member pathways
 10.87 CYP11B1 CYP11B2 HSD11B2 POMC
7
superpathway of steroid hormone biosynthesis 1
Show member pathways
 10.66 CYP11B1 CYP11B2
Sources

GO Terms for Hyperaldosteronism, Familial, Type I

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 steroid biosynthetic process GO:0006694 9.52 CYP11B1 CYP11B2
2 cellular response to hormone stimulus GO:0032870 9.51 CYP11B1 CYP11B2
3 sterol metabolic process GO:0016125 9.49 CYP11B1 CYP11B2
4 cellular response to peptide hormone stimulus GO:0071375 9.48 CYP11B1 CYP11B2
5 C21-steroid hormone biosynthetic process GO:0006700 9.46 CYP11B1 CYP11B2
6 cellular response to potassium ion GO:0035865 9.43 CYP11B1 CYP11B2
7 renin-angiotensin regulation of aldosterone production GO:0002018 9.4 AGT REN
8 aldosterone biosynthetic process GO:0032342 9.37 CYP11B1 CYP11B2
9 cortisol biosynthetic process GO:0034651 9.32 CYP11B1 CYP11B2
10 regulation of blood volume by renin-angiotensin GO:0002016 9.26 AGT REN
11 regulation of blood volume by renal aldosterone GO:0002017 9.16 CYP11B2 HSD11B2
12 glucocorticoid biosynthetic process GO:0006704 9.13 CYP11B1 CYP11B2 HSD11B2
13 regulation of blood pressure GO:0008217 8.92 AGT CYP11B1 POMC REN

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

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen GO:0016705 9.26 CYP11B1 CYP11B2
2 steroid binding GO:0005496 9.16 HSD11B2 NR3C2
3 corticosterone 18-monooxygenase activity GO:0047783 8.96 CYP11B1 CYP11B2
4 steroid 11-beta-monooxygenase activity GO:0004507 8.62 CYP11B1 CYP11B2
Sources

Sources for Hyperaldosteronism, Familial, Type I

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 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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