HALD1
MCID: HYP731
MIFTS: 56

Hyperaldosteronism, Familial, Type I (HALD1)

Categories: Blood diseases, Cardiovascular diseases, Endocrine diseases, Genetic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Hyperaldosteronism, Familial, Type I

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:



Summaries for Hyperaldosteronism, Familial, Type I

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 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 Aldosterone synthesis and secretion. The drugs Atorvastatin and Simvastatin have been mentioned in the context of this disorder. Affiliated tissues include adrenal gland and testes, and related phenotypes are hypertension and dexamethasone-suppresible 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...

Related Diseases for Hyperaldosteronism, Familial, Type I

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 145)
# Related Disease Score Top Affiliating Genes
1 familial hyperaldosteronism 30.4 CYP11B1 CYP11B2 KCNJ5
2 aldosterone-producing adenoma 30.4 CYP11B2 KCNJ5
3 apparent mineralocorticoid excess 29.7 HSD11B2 NR3C2 REN
4 adenoma 29.2 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 11.6
8 hyperaldosteronism, familial, type ii 11.2
9 intracranial aneurysm 10.2
10 arthrogryposis, distal, type 3 10.2 NR3C2 REN
11 spondylosis 10.2
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 adrenal cortical hypofunction 10.1 POMC REN
19 familial glucocorticoid deficiency 10.1 POMC REN
20 lung cancer 10.1
21 cystic fibrosis 10.1
22 neuroblastoma 10.1
23 cystic kidney disease 10.1
24 heart valve disease 10.1 NR3C2 REN
25 premenstrual tension 10.1 POMC REN
26 mineral metabolism disease 10.1 POMC REN
27 aortic coarctation 10.1 AGT CYP11B2
28 potter's syndrome 10.1 AGT REN
29 renal artery disease 10.1 AGT REN
30 transposition of the great arteries 10.1
31 breast cancer 10.1
32 leukemia 10.1
33 hypoxia 10.1
34 fibromuscular dysplasia 10.1 AGT REN
35 renal tubular acidosis 10.1 NR3C2 REN
36 diabetes insipidus 10.0 POMC REN
37 renal tubular dysgenesis 10.0 AGT REN
38 vesicoureteral reflux 1 10.0 AGT REN
39 burns 10.0
40 elephantiasis 10.0
41 toxoplasmosis 10.0
42 nonalcoholic steatohepatitis 10.0
43 splenomegaly 10.0
44 gitelman syndrome 10.0 AGT REN
45 interstitial nephritis 10.0 AGT REN
46 renal fibrosis 10.0 NR3C2 REN
47 glioblastoma 10.0
48 obstructive nephropathy 10.0 AGT REN
49 oligohydramnios 10.0 AGT REN
50 renal dysplasia 10.0 AGT REN

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



Diseases related to Hyperaldosteronism, Familial, Type I

Symptoms & Phenotypes for Hyperaldosteronism, Familial, Type I

Human phenotypes related to Hyperaldosteronism, Familial, Type I:

60 33 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertension 60 33 obligate (100%) Obligate (100%) HP:0000822
2 dexamethasone-suppresible primary hyperaldosteronism 60 33 obligate (100%) 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 epistaxis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000421
9 intracranial hemorrhage 60 33 occasional (7.5%) Occasional (29-5%) HP:0002170
10 preeclampsia 60 33 occasional (7.5%) Occasional (29-5%) HP:0100602
11 headache 60 33 occasional (7.5%) Occasional (29-5%) HP:0002315
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 decreased circulating renin level 33 HP:0003351
19 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

Drugs & Therapeutics for Hyperaldosteronism, Familial, Type I

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 Immunoglobulins Phase 3
4 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 3
5 Antibodies, Monoclonal Phase 3
6 Rosuvastatin Calcium Phase 3 147098-20-2
7 Antibodies Phase 3
8 Immunologic Factors Phase 3
9 Pharmaceutical Solutions 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

Genetic Tests for Hyperaldosteronism, Familial, Type I

Genetic tests related to Hyperaldosteronism, Familial, Type I:

# Genetic test Affiliating Genes
1 Hyperaldosteronism, Familial, Type I 30 CYP11B1

Anatomical Context for Hyperaldosteronism, Familial, Type I

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

42
Adrenal Gland, Testes

Publications for Hyperaldosteronism, Familial, Type I

Articles related to Hyperaldosteronism, Familial, Type I:

(show all 45)
# 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
Glucocorticoid-remediable aldosteronism. ( 21565670 )
2011
5
Delayed arterial switch operation for d-transposition of the great arteries and glucocorticoid remediable aldosteronism. ( 23804991 )
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
Genetic screening for glucocorticoid-remediable aldosteronism (GRA): experience of three clinical centres in Poland. ( 16110193 )
2005
10
Glucocorticoid remediable aldosteronism (GRA) screening in hypertensive patients from a primary care setting. ( 15660117 )
2005
11
Glucocorticoid-remediable aldosteronism. ( 14667264 )
2004
12
Non-glucocorticoid-remediable aldosteronism in an infant with low-renin hypertension. ( 14648333 )
2004
13
Coexistence of different phenotypes in a family with glucocorticoid-remediable aldosteronism. ( 14688810 )
2004
14
Glucocorticoid-remediable aldosteronism. ( 15761539 )
2004
15
Clinical and gene mutation studies on a Chinese pedigree with glucocorticoid-remediable aldosteronism. ( 12150724 )
2002
16
Glucocorticoid remediable aldosteronism: low morbidity and mortality in a four-generation italian pedigree. ( 12107222 )
2002
17
Japanese family with glucocorticoid-remediable aldosteronism diagnosed by long-polymerase chain reaction. ( 11675955 )
2001
18
Glucocorticoid-remediable aldosteronism is associated with severe hypertension in early childhood. ( 11343049 )
2001
19
Is random screening of value in detecting glucocorticoid-remediable aldosteronism within a hypertensive population? ( 11317201 )
2001
20
Glucocorticoid-remediable aldosteronism and pregnancy. ( 10679515 )
2000
21
Abolished nocturnal blood pressure fall in a boy with glucocorticoid-remediable aldosteronism. ( 10618671 )
1999
22
Glucocorticoid-remediable aldosteronism. ( 10599685 )
1999
23
Intracranial aneurysm and hemorrhagic stroke in glucocorticoid-remediable aldosteronism. ( 9453343 )
1998
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
Evaluation of the dexamethasone suppression test for the diagnosis of glucocorticoid-remediable aldosteronism. ( 9360508 )
1997
27
Potassium and aldosterone secretion in glucocorticoid-remediable aldosteronism. ( 9398755 )
1997
28
Impaired potassium-stimulated aldosterone production: a possible explanation for normokalemic glucocorticoid-remediable aldosteronism. ( 9141541 )
1997
29
Glucocorticoid remediable aldosteronism: a case report. ( 9178594 )
1997
30
Glucocorticoid-remediable aldosteronism. ( 8759241 )
1996
31
Variation of phenotype in patients with glucocorticoid remediable aldosteronism. ( 8825044 )
1996
32
Aldosterone-producing adenomas do not contain glucocorticoid-remediable aldosteronism chimeric gene duplications. ( 8954032 )
1996
33
Glucocorticoid remediable aldosteronism: a rare hereditary form of adrenocorticotropic hormone regulated mineralocorticoid hypertension. ( 7609119 )
1995
34
Glucocorticoid-remediable aldosteronism. ( 8565422 )
1995
35
Glucocorticoid-remediable aldosteronism. ( 9221269 )
1995
36
Glucocorticoid-remediable aldosteronism (GRA): diagnosis, variability of phenotype and regulation of potassium homeostasis. ( 7792815 )
1995
37
Abnormality of aldosterone and cortisol late pathways in glucocorticoid-remediable aldosteronism. ( 8077359 )
1994
38
Glucocorticoid-remediable aldosteronism. ( 8070423 )
1994
39
The molecular basis of a hereditary form of hypertension, glucocorticoid-remediable aldosteronism. ( 18407135 )
1993
40
Glucocorticoid-remediable aldosteronism in a large kindred: clinical spectrum and diagnosis using a characteristic biochemical phenotype. ( 1567095 )
1992
41
A chimaeric 11 beta-hydroxylase/aldosterone synthase gene causes glucocorticoid-remediable aldosteronism and human hypertension. ( 1731223 )
1992
42
The molecular basis of glucocorticoid-remediable aldosteronism, a Mendelian cause of human hypertension. ( 1309006 )
1992
43
Two uncommon causes of mineralocorticoid excess. Syndrome of apparent mineralocorticoid excess and glucocorticoid-remediable aldosteronism. ( 1879399 )
1991
44
Defective fasciculata zone function as the mechanism of glucocorticoid-remediable aldosteronism. ( 2172271 )
1990
45
Non-tumorous "primary" aldosteronism. I. Type relieved by glucocorticoid (glucocorticoid-remediable aldosteronism). ( 5793351 )
1969

Variations for Hyperaldosteronism, Familial, Type I

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

6 (show top 50) (show all 265)
# Gene Variation Type Significance SNP ID Assembly Location
1 CYP11B2 NM_000498.3(CYP11B2): c.-14G> C single nucleotide variant Likely benign rs6440 GRCh38 Chromosome 8, 142917854: 142917854
2 CYP11B2 NM_000498.3(CYP11B2): c.-14G> C single nucleotide variant Likely benign rs6440 GRCh37 Chromosome 8, 143999270: 143999270
3 CYP11B2 NM_000498.3(CYP11B2): c.89G> A (p.Arg30Gln) single nucleotide variant Likely benign rs6441 GRCh38 Chromosome 8, 142917752: 142917752
4 CYP11B2 NM_000498.3(CYP11B2): c.89G> A (p.Arg30Gln) single nucleotide variant Likely benign rs6441 GRCh37 Chromosome 8, 143999168: 143999168
5 CYP11B2 NM_000498.3(CYP11B2): c.111G> A (p.Pro37=) single nucleotide variant Likely benign rs5281 GRCh38 Chromosome 8, 142917730: 142917730
6 CYP11B2 NM_000498.3(CYP11B2): c.111G> A (p.Pro37=) single nucleotide variant Likely benign rs5281 GRCh37 Chromosome 8, 143999146: 143999146
7 CYP11B2 NM_000498.3(CYP11B2): c.844C> T (p.Arg282Cys) single nucleotide variant Uncertain significance rs774989997 GRCh38 Chromosome 8, 142914374: 142914374
8 CYP11B2 NM_000498.3(CYP11B2): c.844C> T (p.Arg282Cys) single nucleotide variant Uncertain significance rs774989997 GRCh37 Chromosome 8, 143995790: 143995790
9 CYP11B2 NM_000498.3(CYP11B2): c.945C> T (p.Ser315=) single nucleotide variant Likely benign rs759178574 GRCh38 Chromosome 8, 142914273: 142914273
10 CYP11B2 NM_000498.3(CYP11B2): c.945C> T (p.Ser315=) single nucleotide variant Likely benign rs759178574 GRCh37 Chromosome 8, 143995689: 143995689
11 CYP11B2 NM_000498.3(CYP11B2): c.1016T> A (p.Ile339Asn) single nucleotide variant Likely benign rs4544 GRCh37 Chromosome 8, 143994806: 143994806
12 CYP11B2 NM_000498.3(CYP11B2): c.1016T> A (p.Ile339Asn) single nucleotide variant Likely benign rs4544 GRCh38 Chromosome 8, 142913390: 142913390
13 CYP11B2 NM_000498.3(CYP11B2): c.1021C> T (p.Arg341Cys) single nucleotide variant Likely benign rs562670189 GRCh37 Chromosome 8, 143994801: 143994801
14 CYP11B2 NM_000498.3(CYP11B2): c.1021C> T (p.Arg341Cys) single nucleotide variant Likely benign rs562670189 GRCh38 Chromosome 8, 142913385: 142913385
15 CYP11B2 NM_000498.3(CYP11B2): c.1080C> T (p.Thr360=) single nucleotide variant Likely benign rs142179598 GRCh37 Chromosome 8, 143994742: 143994742
16 CYP11B2 NM_000498.3(CYP11B2): c.1080C> T (p.Thr360=) single nucleotide variant Likely benign rs142179598 GRCh38 Chromosome 8, 142913326: 142913326
17 CYP11B2 NM_000498.3(CYP11B2): c.1098G> T (p.Arg366=) single nucleotide variant Likely benign rs61757297 GRCh37 Chromosome 8, 143994724: 143994724
18 CYP11B2 NM_000498.3(CYP11B2): c.1098G> T (p.Arg366=) single nucleotide variant Likely benign rs61757297 GRCh38 Chromosome 8, 142913308: 142913308
19 CYP11B2 NM_000498.3(CYP11B2): c.1101G> A (p.Ala367=) single nucleotide variant Likely benign rs371450047 GRCh37 Chromosome 8, 143994721: 143994721
20 CYP11B2 NM_000498.3(CYP11B2): c.1101G> A (p.Ala367=) single nucleotide variant Likely benign rs371450047 GRCh38 Chromosome 8, 142913305: 142913305
21 CYP11B2 NM_000498.3(CYP11B2): c.1120C> A (p.Arg374=) single nucleotide variant Benign rs4538 GRCh37 Chromosome 8, 143994702: 143994702
22 CYP11B2 NM_000498.3(CYP11B2): c.1120C> A (p.Arg374=) single nucleotide variant Benign rs4538 GRCh38 Chromosome 8, 142913286: 142913286
23 CYP11B2 NM_000498.3(CYP11B2): c.*204C> G single nucleotide variant Uncertain significance rs773811282 GRCh37 Chromosome 8, 143993192: 143993192
24 CYP11B2 NM_000498.3(CYP11B2): c.*204C> G single nucleotide variant Uncertain significance rs773811282 GRCh38 Chromosome 8, 142911776: 142911776
25 CYP11B2 NM_000498.3(CYP11B2): c.*292_*294dupTCC duplication Benign rs3839864 GRCh37 Chromosome 8, 143993102: 143993104
26 CYP11B2 NM_000498.3(CYP11B2): c.*292_*294dupTCC duplication Benign rs3839864 GRCh38 Chromosome 8, 142911686: 142911688
27 CYP11B2 NM_000498.3(CYP11B2): c.*299G> A single nucleotide variant Likely benign rs528171695 GRCh37 Chromosome 8, 143993097: 143993097
28 CYP11B2 NM_000498.3(CYP11B2): c.*299G> A single nucleotide variant Likely benign rs528171695 GRCh38 Chromosome 8, 142911681: 142911681
29 CYP11B2 NM_000498.3(CYP11B2): c.*504C> T single nucleotide variant Uncertain significance rs201487778 GRCh37 Chromosome 8, 143992892: 143992892
30 CYP11B2 NM_000498.3(CYP11B2): c.*504C> T single nucleotide variant Uncertain significance rs201487778 GRCh38 Chromosome 8, 142911476: 142911476
31 CYP11B2 NM_000498.3(CYP11B2): c.*743C> T single nucleotide variant Uncertain significance rs886062741 GRCh38 Chromosome 8, 142911237: 142911237
32 CYP11B2 NM_000498.3(CYP11B2): c.*743C> T single nucleotide variant Uncertain significance rs886062741 GRCh37 Chromosome 8, 143992653: 143992653
33 CYP11B2 NM_000498.3(CYP11B2): c.*789G> A single nucleotide variant Uncertain significance rs61763990 GRCh38 Chromosome 8, 142911191: 142911191
34 CYP11B2 NM_000498.3(CYP11B2): c.*789G> A single nucleotide variant Uncertain significance rs61763990 GRCh37 Chromosome 8, 143992607: 143992607
35 CYP11B2 NM_000498.3(CYP11B2): c.*1178T> C single nucleotide variant Benign rs3802228 GRCh38 Chromosome 8, 142910802: 142910802
36 CYP11B2 NM_000498.3(CYP11B2): c.*1178T> C single nucleotide variant Benign rs3802228 GRCh37 Chromosome 8, 143992218: 143992218
37 CYP11B1 NM_000497.3(CYP11B1): c.104T> C (p.Val35Ala) single nucleotide variant Likely benign rs201951316 GRCh38 Chromosome 8, 142879710: 142879710
38 CYP11B1 NM_000497.3(CYP11B1): c.104T> C (p.Val35Ala) single nucleotide variant Likely benign rs201951316 GRCh37 Chromosome 8, 143961126: 143961126
39 CYP11B1 NM_000497.3(CYP11B1): c.375C> G (p.His125Gln) single nucleotide variant Likely benign rs201137503 GRCh38 Chromosome 8, 142879052: 142879052
40 CYP11B1 NM_000497.3(CYP11B1): c.375C> G (p.His125Gln) single nucleotide variant Likely benign rs201137503 GRCh37 Chromosome 8, 143960468: 143960468
41 CYP11B1 NM_000497.3(CYP11B1): c.800-14C> T single nucleotide variant Benign rs4535 GRCh38 Chromosome 8, 142876409: 142876409
42 CYP11B1 NM_000497.3(CYP11B1): c.800-14C> T single nucleotide variant Benign rs4535 GRCh37 Chromosome 8, 143957825: 143957825
43 CYP11B1 NM_000497.3(CYP11B1): c.825T> C (p.Tyr275=) single nucleotide variant Likely benign rs5290 GRCh37 Chromosome 8, 143957786: 143957786
44 CYP11B1 NM_000497.3(CYP11B1): c.825T> C (p.Tyr275=) single nucleotide variant Likely benign rs5290 GRCh38 Chromosome 8, 142876370: 142876370
45 CYP11B1 NM_000497.3(CYP11B1): c.1205T> C (p.Leu402Ser) single nucleotide variant Uncertain significance rs886062738 GRCh37 Chromosome 8, 143956566: 143956566
46 CYP11B1 NM_000497.3(CYP11B1): c.1205T> C (p.Leu402Ser) single nucleotide variant Uncertain significance rs886062738 GRCh38 Chromosome 8, 142875150: 142875150
47 CYP11B1 NM_000497.3(CYP11B1): c.1353T> C (p.Leu451=) single nucleotide variant Likely benign rs5316 GRCh37 Chromosome 8, 143956418: 143956418
48 CYP11B1 NM_000497.3(CYP11B1): c.1353T> C (p.Leu451=) single nucleotide variant Likely benign rs5316 GRCh38 Chromosome 8, 142875002: 142875002
49 CYP11B2 NM_000498.3(CYP11B2): c.352G> A (p.Ala118Thr) single nucleotide variant Likely benign rs372556807 GRCh38 Chromosome 8, 142917102: 142917102
50 CYP11B2 NM_000498.3(CYP11B2): c.352G> A (p.Ala118Thr) single nucleotide variant Likely benign rs372556807 GRCh37 Chromosome 8, 143998518: 143998518

Expression for Hyperaldosteronism, Familial, Type I

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

Pathways for Hyperaldosteronism, Familial, Type I

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
Show member pathways
12.42 CYP11B1 CYP11B2 KCNJ5 POMC
2
Show member pathways
11.76 AGT POMC REN
3 11.27 AGT REN
4
Show member pathways
11.2 CYP11B1 CYP11B2 HSD11B2 POMC
5
Show member pathways
11.15 CYP11B1 CYP11B2 HSD11B2
6 10.97 HSD11B2 NR3C2
7
Show member pathways
10.83 AGT CYP11B2 NR3C2 REN
8
Show member pathways
10.71 CYP11B1 CYP11B2

GO Terms for Hyperaldosteronism, Familial, Type I

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 for Hyperaldosteronism, Familial, Type I

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
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