HALD1
MCID: HYP731
MIFTS: 56

Hyperaldosteronism, Familial, Type I (HALD1)

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

Aliases & Classifications for Hyperaldosteronism, Familial, Type I

MalaCards integrated aliases for Hyperaldosteronism, Familial, Type I:

Name: Hyperaldosteronism, Familial, Type I 57 29 6
Glucocorticoid-Remediable Aldosteronism 57 12 53 59 75 37 55 44 15 73
Familial Hyperaldosteronism Type 1 53 59 73
Gra 57 59 75
Glucocorticoid-Suppressible Hyperaldosteronism 57 75
Acth-Dependent Hyperaldosteronism Syndrome 57 75
Aldosteronism, Glucocorticoid-Remediable 57 13
Glucocorticoid Sensitive Hypertension 53 75
Dexamethasone Sensitive Hypertension 53 75
Hyperaldosteronism, Familial Type 1 76 53
Familial Hyperaldosteronism Type I 59 75
Hald1 57 75
Fh I 57 75
Gsh 57 75
Fh1 59 75
Glucocorticoid-Suppressible Hyperaldosteronism; Gsh 57
Glucocorticoid-Remediable Aldosteronism; Gra 57
Aldosteronism, Sensitive to Dexamethasone 57
Aldosteronism Sensitive to Dexamethasone 75
Hyperaldosteronism, Familial, Type I ) 40
Glucocorticoid-Sensitive Hypertension 59
Dexamethasone-Sensitive Hypertension 59
Hyperaldosteronism, Familial, 1 75
Familial Hyperaldosteronism 1 75
Familial Aldosteronism Type I 73
Fh Type 1 75
Fh-I 59

Characteristics:

Orphanet epidemiological data:

59
familial hyperaldosteronism type i
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult,Childhood; Age of death: normal life expectancy;

OMIM:

57
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:

32
hyperaldosteronism, familial, type i:
Inheritance autosomal dominant inheritance
Onset and clinical course onset


Classifications:



Summaries for Hyperaldosteronism, Familial, Type I

NIH Rare Diseases : 53 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 Peptide hormone metabolism. The drugs Simvastatin and Atorvastatin Calcium 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 : 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)

UniProtKB/Swiss-Prot : 75 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 : 76 Hyperaldosteronism, also aldosteronism, is a medical condition wherein too much aldosterone is produced... 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 108)
# Related Disease Score Top Affiliating Genes
1 familial hyperaldosteronism 31.0 CYP11B1 CYP11B2
2 aldosterone-producing adenoma 30.7 CYP11B2 REN
3 adenoma 29.0 CYP11B2 HSD11B2 POMC
4 hypertension, essential 24.9 AGT CYP11B1 CYP11B2 HSD11B2 NR3C1 NR3C2
5 hyperaldosteronism, familial, type iii 11.5
6 hyperaldosteronism, familial, type ii 11.1
7 arthrogryposis, distal, type 3 10.4 NR3C2 REN
8 pseudohypoaldosteronism, type i, autosomal dominant 10.4 NR3C2 REN
9 pseudohypoaldosteronism, type i, autosomal recessive 10.4 NR3C2 REN
10 acute adrenal insufficiency 10.3 POMC REN
11 aortic coarctation 10.3 AGT CYP11B2
12 inappropriate adh syndrome 10.3 POMC REN
13 adrenal cortical adenoma 10.3 CYP11B1 POMC
14 adrenal cortical hypofunction 10.3 POMC REN
15 malignant hypertension 10.3 AGT REN
16 familial glucocorticoid deficiency 10.3 POMC REN
17 fibromuscular dysplasia 10.3 AGT REN
18 premenstrual tension 10.3 POMC REN
19 renal tubular dysgenesis 10.2 AGT REN
20 mineral metabolism disease 10.2 POMC REN
21 gitelman syndrome 10.2 AGT REN
22 interstitial nephritis 10.2 AGT REN
23 microvascular complications of diabetes 3 10.2 AGT REN
24 oligohydramnios 10.2 AGT REN
25 endotheliitis 10.1
26 aortic valve disease 1 10.1 POMC REN
27 renal tubular acidosis 10.1 NR3C2 REN
28 vesicoureteral reflux 1 10.1 AGT REN
29 nelson syndrome 10.1 NR3C1 POMC
30 acth-secreting pituitary adenoma 10.1 NR3C1 POMC
31 diabetes insipidus 10.0 POMC REN
32 lung cancer 10.0
33 neuroblastoma 10.0
34 adrenal rest tumor 10.0 CYP11B1 CYP11B2 POMC
35 pseudohypoaldosteronism 10.0 NR3C2 REN
36 pseudohyperkalemia, familial, 2, due to red cell leak 10.0 CYP11B2 NR3C2 REN
37 adrenocortical carcinoma, hereditary 10.0 CYP11B1 CYP11B2 POMC
38 renal dysplasia 10.0 AGT REN
39 breast cancer 10.0
40 cystic fibrosis 10.0
41 aging 10.0
42 hypoaldosteronism 9.9 CYP11B2 POMC REN
43 mental depression 9.9 NR3C1 POMC
44 cell type benign neoplasm 9.9 CYP11B2 POMC REN
45 hepatitis 9.9
46 neuronitis 9.9
47 hypoxia 9.9
48 primary pigmented nodular adrenocortical disease 9.9 NR3C1 POMC
49 hypertensive heart disease 9.9 AGT CYP11B2 NR3C2
50 small cell cancer of the lung 9.8

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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Hyperaldosteronism, Familial, Type I:

59 32 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertension 59 32 obligate (100%) Obligate (100%) HP:0000822
2 dexamethasone-suppresible primary hyperaldosteronism 59 32 obligate (100%) Obligate (100%) HP:0011739
3 adrenal hyperplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0008221
4 abnormal circulating renin 59 32 hallmark (90%) Very frequent (99-80%) HP:0040084
5 tinnitus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000360
6 epistaxis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000421
7 muscle weakness 59 32 occasional (7.5%) Occasional (29-5%) HP:0001324
8 polydipsia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001959
9 nausea 59 32 occasional (7.5%) Occasional (29-5%) HP:0002018
10 intracranial hemorrhage 59 32 occasional (7.5%) Occasional (29-5%) HP:0002170
11 headache 59 32 occasional (7.5%) Occasional (29-5%) HP:0002315
12 hypokalemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002900
13 caesarian section 59 32 occasional (7.5%) Occasional (29-5%) HP:0011410
14 secretory adrenocortical adenoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0011746
15 preeclampsia 59 32 occasional (7.5%) Occasional (29-5%) HP:0100602
16 abnormality of the urinary system 32 HP:0000079
17 adrenogenital syndrome 32 HP:0000840
18 hyperaldosteronism 32 HP:0000859
19 decreased circulating renin level 32 HP:0003351

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased transferrin (TF) endocytosis GR00363-A 9.5 AGT CYP11B1 CYP11B2 NR3C1 NR3C2 POMC
2 Reduced mammosphere formation GR00396-S 9.02 CYP11B1 HSD11B2 NR3C1 NR3C2 POMC

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.01 AGT CYP11B1 CYP11B2 HSD11B2 NR3C1 NR3C2
2 behavior/neurological MP:0005386 9.98 AGT CYP11B1 HSD11B2 NR3C1 NR3C2 POMC
3 homeostasis/metabolism MP:0005376 9.92 AGT CYP11B1 CYP11B2 HSD11B2 NR3C1 NR3C2
4 growth/size/body region MP:0005378 9.91 AGT CYP11B1 CYP11B2 NR3C1 NR3C2 POMC
5 mortality/aging MP:0010768 9.8 CYP11B1 HSD11B2 NR3C1 NR3C2 POMC REN
6 adipose tissue MP:0005375 9.76 AGT CYP11B2 NR3C1 POMC
7 muscle MP:0005369 9.63 AGT CYP11B1 HSD11B2 NR3C1 NR3C2 REN
8 nervous system MP:0003631 9.43 NR3C1 NR3C2 POMC REN CYP11B2 AGT
9 renal/urinary system MP:0005367 9.23 AGT CYP11B1 CYP11B2 HSD11B2 NR3C1 NR3C2

Drugs & Therapeutics for Hyperaldosteronism, Familial, Type I

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

(show all 10)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Simvastatin Approved Phase 3 79902-63-9 54454
2 Atorvastatin Calcium Phase 3 134523-03-8
3 Rosuvastatin Calcium Phase 3 147098-20-2
4 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 3
5 Pharmaceutical Solutions Phase 3
6 Antibodies Phase 3
7 Immunoglobulins Phase 3
8 Antibodies, Monoclonal Phase 3
9
Captopril Approved 62571-86-2 44093
10 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 Recruiting 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 29 CYP11B1

Anatomical Context for Hyperaldosteronism, Familial, Type I

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

41
Adrenal Gland, Testes

Publications for Hyperaldosteronism, Familial, Type I

Articles related to Hyperaldosteronism, Familial, Type I:

(show all 43)
# Title Authors Year
1
Glucocorticoid-remediable aldosteronism in a young adult with a family history of Conn's syndrome. ( 29445488 )
2018
2
Glucocorticoid-remediable aldosteronism. ( 21565670 )
2011
3
Delayed arterial switch operation for d-transposition of the great arteries and glucocorticoid remediable aldosteronism. ( 23804991 )
2011
4
Diagnosis of glucocorticoid-remediable aldosteronism in hypertensive children. ( 21625068 )
2011
5
Genetic analyses of the chimeric CYP11B1/CYP11B2 gene in a Korean family with glucocorticoid-remediable aldosteronism. ( 20808686 )
2010
6
A German family with glucocorticoid-remediable aldosteronism. ( 17277347 )
2007
7
Genetic screening for glucocorticoid-remediable aldosteronism (GRA): experience of three clinical centres in Poland. ( 16110193 )
2005
8
Glucocorticoid remediable aldosteronism (GRA) screening in hypertensive patients from a primary care setting. ( 15660117 )
2005
9
Glucocorticoid-remediable aldosteronism. ( 14667264 )
2004
10
Non-glucocorticoid-remediable aldosteronism in an infant with low-renin hypertension. ( 14648333 )
2004
11
Coexistence of different phenotypes in a family with glucocorticoid-remediable aldosteronism. ( 14688810 )
2004
12
Glucocorticoid-remediable aldosteronism. ( 15761539 )
2004
13
Clinical and gene mutation studies on a Chinese pedigree with glucocorticoid-remediable aldosteronism. ( 12150724 )
2002
14
Glucocorticoid remediable aldosteronism: low morbidity and mortality in a four-generation italian pedigree. ( 12107222 )
2002
15
Japanese family with glucocorticoid-remediable aldosteronism diagnosed by long-polymerase chain reaction. ( 11675955 )
2001
16
Is random screening of value in detecting glucocorticoid-remediable aldosteronism within a hypertensive population? ( 11317201 )
2001
17
Glucocorticoid-remediable aldosteronism is associated with severe hypertension in early childhood. ( 11343049 )
2001
18
Glucocorticoid-remediable aldosteronism and pregnancy. ( 10679515 )
2000
19
Abolished nocturnal blood pressure fall in a boy with glucocorticoid-remediable aldosteronism. ( 10618671 )
1999
20
Glucocorticoid-remediable aldosteronism. ( 10599685 )
1999
21
Intracranial aneurysm and hemorrhagic stroke in glucocorticoid-remediable aldosteronism. ( 9453343 )
1998
22
Diagnosis of glucocorticoid-remediable aldosteronism in primary aldosteronism: aldosterone response to dexamethasone and long polymerase chain reaction for chimeric gene. ( 9661646 )
1998
23
Rapid diagnosis and identification of cross-over sites in patients with glucocorticoid remediable aldosteronism. ( 9851772 )
1998
24
Evaluation of the dexamethasone suppression test for the diagnosis of glucocorticoid-remediable aldosteronism. ( 9360508 )
1997
25
Potassium and aldosterone secretion in glucocorticoid-remediable aldosteronism. ( 9398755 )
1997
26
Glucocorticoid remediable aldosteronism: a case report. ( 9178594 )
1997
27
Impaired potassium-stimulated aldosterone production: a possible explanation for normokalemic glucocorticoid-remediable aldosteronism. ( 9141541 )
1997
28
Aldosterone-producing adenomas do not contain glucocorticoid-remediable aldosteronism chimeric gene duplications. ( 8954032 )
1996
29
Glucocorticoid-remediable aldosteronism. ( 8759241 )
1996
30
Variation of phenotype in patients with glucocorticoid remediable aldosteronism. ( 8825044 )
1996
31
Glucocorticoid remediable aldosteronism: a rare hereditary form of adrenocorticotropic hormone regulated mineralocorticoid hypertension. ( 7609119 )
1995
32
Glucocorticoid-remediable aldosteronism (GRA): diagnosis, variability of phenotype and regulation of potassium homeostasis. ( 7792815 )
1995
33
Glucocorticoid-remediable aldosteronism. ( 8565422 )
1995
34
Glucocorticoid-remediable aldosteronism. ( 9221269 )
1995
35
Glucocorticoid-remediable aldosteronism. ( 8070423 )
1994
36
Abnormality of aldosterone and cortisol late pathways in glucocorticoid-remediable aldosteronism. ( 8077359 )
1994
37
The molecular basis of a hereditary form of hypertension, glucocorticoid-remediable aldosteronism. ( 18407135 )
1993
38
The molecular basis of glucocorticoid-remediable aldosteronism, a Mendelian cause of human hypertension. ( 1309006 )
1992
39
Glucocorticoid-remediable aldosteronism in a large kindred: clinical spectrum and diagnosis using a characteristic biochemical phenotype. ( 1567095 )
1992
40
A chimaeric 11 beta-hydroxylase/aldosterone synthase gene causes glucocorticoid-remediable aldosteronism and human hypertension. ( 1731223 )
1992
41
Two uncommon causes of mineralocorticoid excess. Syndrome of apparent mineralocorticoid excess and glucocorticoid-remediable aldosteronism. ( 1879399 )
1991
42
Defective fasciculata zone function as the mechanism of glucocorticoid-remediable aldosteronism. ( 2172271 )
1990
43
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 255)
# Gene Variation Type Significance SNP ID Assembly Location
1 CYP11B1 CYP11B1, CYP11B1/CYP11B2 ANTI-LEPORE-LIKE CHIMERA undetermined variant Pathogenic
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.*1852T> G single nucleotide variant Benign rs4736312 GRCh38 Chromosome 8, 142872521: 142872521
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.*1770A> T single nucleotide variant Likely benign rs369448045 GRCh38 Chromosome 8, 142872603: 142872603
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.*1499C> T single nucleotide variant Benign rs1134095 GRCh38 Chromosome 8, 142872874: 142872874
8 CYP11B1 NM_000497.3(CYP11B1): c.*1258G> A single nucleotide variant Likely benign rs61752808 GRCh37 Chromosome 8, 143954531: 143954531
9 CYP11B1 NM_000497.3(CYP11B1): c.*1258G> A single nucleotide variant Likely benign rs61752808 GRCh38 Chromosome 8, 142873115: 142873115
10 CYP11B1 NM_000497.3(CYP11B1): c.*1076C> T single nucleotide variant Likely benign rs61752806 GRCh37 Chromosome 8, 143954713: 143954713
11 CYP11B1 NM_000497.3(CYP11B1): c.*1076C> T single nucleotide variant Likely benign rs61752806 GRCh38 Chromosome 8, 142873297: 142873297
12 CYP11B1 NM_000497.3(CYP11B1): c.*737C> T single nucleotide variant Uncertain significance rs748684062 GRCh37 Chromosome 8, 143955052: 143955052
13 CYP11B1 NM_000497.3(CYP11B1): c.*737C> T single nucleotide variant Uncertain significance rs748684062 GRCh38 Chromosome 8, 142873636: 142873636
14 CYP11B1 NM_000497.3(CYP11B1): c.*694T> C single nucleotide variant Benign rs5303 GRCh37 Chromosome 8, 143955095: 143955095
15 CYP11B1 NM_000497.3(CYP11B1): c.*694T> C single nucleotide variant Benign rs5303 GRCh38 Chromosome 8, 142873679: 142873679
16 CYP11B1 NM_000497.3(CYP11B1): c.*670A> C single nucleotide variant Uncertain significance rs879537131 GRCh37 Chromosome 8, 143955119: 143955119
17 CYP11B1 NM_000497.3(CYP11B1): c.*670A> C single nucleotide variant Uncertain significance rs879537131 GRCh38 Chromosome 8, 142873703: 142873703
18 CYP11B1 NM_000497.3(CYP11B1): c.*634G> A single nucleotide variant Likely benign rs1137481 GRCh37 Chromosome 8, 143955155: 143955155
19 CYP11B1 NM_000497.3(CYP11B1): c.*634G> A single nucleotide variant Likely benign rs1137481 GRCh38 Chromosome 8, 142873739: 142873739
20 CYP11B1 NM_000497.3(CYP11B1): c.*495C> T single nucleotide variant Uncertain significance rs886062736 GRCh37 Chromosome 8, 143955294: 143955294
21 CYP11B1 NM_000497.3(CYP11B1): c.*495C> T single nucleotide variant Uncertain significance rs886062736 GRCh38 Chromosome 8, 142873878: 142873878
22 CYP11B1 NM_000497.3(CYP11B1): c.*471A> C single nucleotide variant Benign rs12543598 GRCh38 Chromosome 8, 142873902: 142873902
23 CYP11B1 NM_000497.3(CYP11B1): c.*471A> C single nucleotide variant Benign rs12543598 GRCh37 Chromosome 8, 143955318: 143955318
24 CYP11B1 NM_000497.3(CYP11B1): c.1399-14G> C single nucleotide variant Benign rs5295 GRCh38 Chromosome 8, 142874500: 142874500
25 CYP11B1 NM_000497.3(CYP11B1): c.1399-14G> C single nucleotide variant Benign rs5295 GRCh37 Chromosome 8, 143955916: 143955916
26 CYP11B1 NM_000497.3(CYP11B1): c.1157C> T (p.Ala386Val) single nucleotide variant Benign rs4541 GRCh38 Chromosome 8, 142875277: 142875277
27 CYP11B1 NM_000497.3(CYP11B1): c.1157C> T (p.Ala386Val) single nucleotide variant Benign rs4541 GRCh37 Chromosome 8, 143956693: 143956693
28 CYP11B1 NM_000497.3(CYP11B1): c.1098T> G (p.Arg366=) single nucleotide variant Likely benign rs61752769 GRCh38 Chromosome 8, 142875735: 142875735
29 CYP11B1 NM_000497.3(CYP11B1): c.1098T> G (p.Arg366=) single nucleotide variant Likely benign rs61752769 GRCh37 Chromosome 8, 143957151: 143957151
30 CYP11B1 NM_000497.3(CYP11B1): c.1090T> C (p.Leu364=) single nucleotide variant Uncertain significance rs754660381 GRCh38 Chromosome 8, 142875743: 142875743
31 CYP11B1 NM_000497.3(CYP11B1): c.1090T> C (p.Leu364=) single nucleotide variant Uncertain significance rs754660381 GRCh37 Chromosome 8, 143957159: 143957159
32 CYP11B1 NM_000497.3(CYP11B1): c.1014G> A (p.Gln338=) single nucleotide variant Likely benign rs151335623 GRCh38 Chromosome 8, 142875819: 142875819
33 CYP11B1 NM_000497.3(CYP11B1): c.1014G> A (p.Gln338=) single nucleotide variant Likely benign rs151335623 GRCh37 Chromosome 8, 143957235: 143957235
34 CYP11B1 NM_000497.3(CYP11B1): c.954+9G> C single nucleotide variant Uncertain significance rs6411 GRCh38 Chromosome 8, 142876232: 142876232
35 CYP11B1 NM_000497.3(CYP11B1): c.954+9G> C single nucleotide variant Uncertain significance rs6411 GRCh37 Chromosome 8, 143957648: 143957648
36 CYP11B1 NM_000497.3(CYP11B1): c.823T> C (p.Tyr275His) single nucleotide variant Likely benign rs141368413 GRCh37 Chromosome 8, 143957788: 143957788
37 CYP11B1 NM_000497.3(CYP11B1): c.823T> C (p.Tyr275His) single nucleotide variant Likely benign rs141368413 GRCh38 Chromosome 8, 142876372: 142876372
38 CYP11B1 NM_000497.3(CYP11B1): c.748C> T (p.Pro250Ser) single nucleotide variant Uncertain significance rs753471858 GRCh37 Chromosome 8, 143958149: 143958149
39 CYP11B1 NM_000497.3(CYP11B1): c.748C> T (p.Pro250Ser) single nucleotide variant Uncertain significance rs753471858 GRCh38 Chromosome 8, 142876733: 142876733
40 CYP11B1 NM_000497.3(CYP11B1): c.743C> T (p.Thr248Ile) single nucleotide variant Likely benign rs34620645 GRCh37 Chromosome 8, 143958154: 143958154
41 CYP11B1 NM_000497.3(CYP11B1): c.743C> T (p.Thr248Ile) single nucleotide variant Likely benign rs34620645 GRCh38 Chromosome 8, 142876738: 142876738
42 CYP11B1 NM_000497.3(CYP11B1): c.606G> A (p.Leu202=) single nucleotide variant Likely benign rs61751154 GRCh37 Chromosome 8, 143958291: 143958291
43 CYP11B1 NM_000497.3(CYP11B1): c.606G> A (p.Leu202=) single nucleotide variant Likely benign rs61751154 GRCh38 Chromosome 8, 142876875: 142876875
44 CYP11B1 NM_000497.3(CYP11B1): c.239+13C> A single nucleotide variant Benign rs6402 GRCh37 Chromosome 8, 143960978: 143960978
45 CYP11B1 NM_000497.3(CYP11B1): c.239+13C> A single nucleotide variant Benign rs6402 GRCh38 Chromosome 8, 142879562: 142879562
46 CYP11B1 NM_000497.3(CYP11B1): c.225A> G (p.Leu75=) single nucleotide variant Benign rs6410 GRCh37 Chromosome 8, 143961005: 143961005
47 CYP11B1 NM_000497.3(CYP11B1): c.225A> G (p.Leu75=) single nucleotide variant Benign rs6410 GRCh38 Chromosome 8, 142879589: 142879589
48 CYP11B2 NM_000498.3(CYP11B2): c.*1047C> T single nucleotide variant Uncertain significance rs886062739 GRCh37 Chromosome 8, 143992349: 143992349
49 CYP11B2 NM_000498.3(CYP11B2): c.*1047C> T single nucleotide variant Uncertain significance rs886062739 GRCh38 Chromosome 8, 142910933: 142910933
50 CYP11B2 NM_000498.3(CYP11B2): c.*746G> A single nucleotide variant Likely benign rs570202161 GRCh37 Chromosome 8, 143992650: 143992650

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:

37
# Name Kegg Source Accession
1 Steroid hormone biosynthesis hsa00140

GO Terms for Hyperaldosteronism, Familial, Type I

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 steroid biosynthetic process GO:0006694 9.59 CYP11B1 CYP11B2
2 steroid hormone mediated signaling pathway GO:0043401 9.58 NR3C1 NR3C2
3 cellular response to hormone stimulus GO:0032870 9.58 CYP11B1 CYP11B2
4 sterol metabolic process GO:0016125 9.57 CYP11B1 CYP11B2
5 cellular response to peptide hormone stimulus GO:0071375 9.56 CYP11B1 CYP11B2
6 C21-steroid hormone biosynthetic process GO:0006700 9.55 CYP11B1 CYP11B2
7 angiotensin maturation GO:0002003 9.54 AGT REN
8 small molecule metabolic process GO:0044281 9.52 CYP11B1 CYP11B2
9 cellular response to potassium ion GO:0035865 9.51 CYP11B1 CYP11B2
10 secondary metabolite biosynthetic process GO:0044550 9.49 CYP11B1 CYP11B2
11 renin-angiotensin regulation of aldosterone production GO:0002018 9.48 AGT REN
12 dehydroaustinol biosynthetic process GO:1900563 9.46 CYP11B1 CYP11B2
13 cortisol metabolic process GO:0034650 9.43 CYP11B1 CYP11B2
14 aldosterone biosynthetic process GO:0032342 9.4 CYP11B1 CYP11B2
15 austinol biosynthetic process GO:1900560 9.37 CYP11B1 CYP11B2
16 cortisol biosynthetic process GO:0034651 9.32 CYP11B1 CYP11B2
17 regulation of blood volume by renin-angiotensin GO:0002016 9.26 AGT REN
18 regulation of blood pressure GO:0008217 9.26 AGT CYP11B1 POMC REN
19 regulation of blood volume by renal aldosterone GO:0002017 9.16 CYP11B2 HSD11B2
20 glucocorticoid biosynthetic process GO:0006704 8.8 CYP11B1 CYP11B2 HSD11B2

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

# Name GO ID Score Top Affiliating Genes
1 steroid hormone receptor activity GO:0003707 9.32 NR3C1 NR3C2
2 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen GO:0016709 9.26 CYP11B1 CYP11B2
3 corticosterone 18-monooxygenase activity GO:0047783 9.16 CYP11B1 CYP11B2
4 steroid 11-beta-monooxygenase activity GO:0004507 8.96 CYP11B1 CYP11B2
5 steroid binding GO:0005496 8.8 HSD11B2 NR3C1 NR3C2

Sources for Hyperaldosteronism, Familial, Type I

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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