HALD1
MCID: HYP731
MIFTS: 58

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 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 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 Hydroxymethylglutaryl-CoA Reductase Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include adrenal gland, lung and kidney, and related phenotypes are hypertension and muscle weakness

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 124)
# Related Disease Score Top Affiliating Genes
1 familial hyperaldosteronism 30.7 CYP11B2 CYP11B1
2 adenoma 30.0 POMC HSD11B2 CYP11B2
3 apparent mineralocorticoid excess 29.5 REN NR3C2 NR3C1 HSD11B2
4 conn's syndrome 28.8 REN POMC NR3C2 NR3C1 HSD11B2 CYP11B2
5 hypertension, essential 28.5 REN POMC NR3C2 NR3C1 HSD11B2 CYP11B2
6 hyperaldosteronism, familial, type iii 11.6
7 hyperaldosteronism, familial, type ii 11.1
8 segmental odontomaxillary dysplasia 10.4
9 intracranial aneurysm 10.2
10 spondylosis 10.2
11 lung cancer 10.1
12 cystic fibrosis 10.1
13 neuroblastoma 10.1
14 arthrogryposis, distal, type 3 10.1 REN NR3C2
15 pseudohypoaldosteronism, type i, autosomal dominant 10.1 REN NR3C2
16 pseudohypoaldosteronism 10.1 REN NR3C2
17 pseudohypoaldosteronism, type i, autosomal recessive 10.1 REN NR3C2
18 aortic coarctation 10.1 CYP11B2 AGT
19 acute adrenal insufficiency 10.1 REN POMC
20 potter's syndrome 10.1 REN AGT
21 inappropriate adh syndrome 10.1 REN POMC
22 renal artery disease 10.1 REN AGT
23 adrenal cortical adenoma 10.1 POMC CYP11B1
24 adrenal cortical hypofunction 10.1 REN POMC
25 cystic kidney disease 10.1
26 malignant hypertension 10.1 REN AGT
27 familial glucocorticoid deficiency 10.1 REN POMC
28 hemorrhage, intracerebral 10.1
29 transposition of the great arteries 10.1
30 fibromuscular dysplasia 10.1 REN AGT
31 premenstrual tension 10.1 REN POMC
32 heart valve disease 10.1 REN NR3C2
33 aldosterone-producing adenoma 10.1
34 renal tubular dysgenesis 10.1 REN AGT
35 mineral metabolism disease 10.1 REN POMC
36 gitelman syndrome 10.1 REN AGT
37 interstitial nephritis 10.1 REN AGT
38 obstructive nephropathy 10.0 REN AGT
39 oligohydramnios 10.0 REN AGT
40 leukemia 10.0
41 hypoxia 10.0
42 renal tubular acidosis 10.0 REN NR3C2
43 vesicoureteral reflux 1 10.0 REN AGT
44 elephantiasis 10.0
45 toxoplasmosis 10.0
46 nonalcoholic steatohepatitis 10.0
47 renal dysplasia 10.0 REN AGT
48 diabetes insipidus 10.0 REN POMC
49 persistent fetal circulation syndrome 10.0 POMC HSD11B2
50 aortic valve disease 2 10.0 REN AGT

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

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 AGT CYP11B1 HSD11B2 NR3C1 NR3C2 POMC
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 AGT CYP11B2 NR3C1 NR3C2 POMC REN
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 11)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Simvastatin Approved Phase 3 79902-63-9 54454
2 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 3
3 Immunoglobulins Phase 3
4 Pharmaceutical Solutions Phase 3
5 Atorvastatin Calcium Phase 3 134523-03-8
6 Rosuvastatin Calcium Phase 3 147098-20-2
7 Immunologic Factors Phase 3
8 Antibodies, Monoclonal Phase 3
9 Antibodies 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 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, Lung, Kidney, Heart, Spinal Cord, Myeloid, Cortex

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
Is random screening of value in detecting glucocorticoid-remediable aldosteronism within a hypertensive population? ( 11317201 )
2001
18
Glucocorticoid-remediable aldosteronism is associated with severe hypertension in early childhood. ( 11343049 )
2001
19
Japanese family with glucocorticoid-remediable aldosteronism diagnosed by long-polymerase chain reaction. ( 11675955 )
2001
20
Glucocorticoid-remediable aldosteronism and pregnancy. ( 10679515 )
2000
21
Glucocorticoid-remediable aldosteronism. ( 10599685 )
1999
22
Abolished nocturnal blood pressure fall in a boy with glucocorticoid-remediable aldosteronism. ( 10618671 )
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
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
Potassium and aldosterone secretion in glucocorticoid-remediable aldosteronism. ( 9398755 )
1997
29
Evaluation of the dexamethasone suppression test for the diagnosis of glucocorticoid-remediable aldosteronism. ( 9360508 )
1997
30
Aldosterone-producing adenomas do not contain glucocorticoid-remediable aldosteronism chimeric gene duplications. ( 8954032 )
1996
31
Glucocorticoid-remediable aldosteronism. ( 8759241 )
1996
32
Variation of phenotype in patients with glucocorticoid remediable aldosteronism. ( 8825044 )
1996
33
Glucocorticoid remediable aldosteronism: a rare hereditary form of adrenocorticotropic hormone regulated mineralocorticoid hypertension. ( 7609119 )
1995
34
Glucocorticoid-remediable aldosteronism (GRA): diagnosis, variability of phenotype and regulation of potassium homeostasis. ( 7792815 )
1995
35
Glucocorticoid-remediable aldosteronism. ( 8565422 )
1995
36
Glucocorticoid-remediable aldosteronism. ( 9221269 )
1995
37
Glucocorticoid-remediable aldosteronism. ( 8070423 )
1994
38
Abnormality of aldosterone and cortisol late pathways in glucocorticoid-remediable aldosteronism. ( 8077359 )
1994
39
The molecular basis of a hereditary form of hypertension, glucocorticoid-remediable aldosteronism. ( 18407135 )
1993
40
The molecular basis of glucocorticoid-remediable aldosteronism, a Mendelian cause of human hypertension. ( 1309006 )
1992
41
Glucocorticoid-remediable aldosteronism in a large kindred: clinical spectrum and diagnosis using a characteristic biochemical phenotype. ( 1567095 )
1992
42
A chimaeric 11 beta-hydroxylase/aldosterone synthase gene causes glucocorticoid-remediable aldosteronism and human hypertension. ( 1731223 )
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 CYP11B1 NM_000497.3(CYP11B1): c.243C> T (p.Tyr81=) single nucleotide variant Benign/Likely benign rs9657022 GRCh38 Chromosome 8, 142879184: 142879184
4 CYP11B1 NM_000497.3(CYP11B1): c.243C> T (p.Tyr81=) single nucleotide variant Benign/Likely benign rs9657022 GRCh37 Chromosome 8, 143960600: 143960600
5 CYP11B1 NM_000497.3(CYP11B1): c.1144C> T (p.Leu382=) single nucleotide variant Benign/Likely benign rs5293 GRCh38 Chromosome 8, 142875290: 142875290
6 CYP11B1 NM_000497.3(CYP11B1): c.1144C> T (p.Leu382=) single nucleotide variant Benign/Likely benign rs5293 GRCh37 Chromosome 8, 143956706: 143956706
7 CYP11B1 NM_000497.3(CYP11B1): c.1120C> A (p.Arg374=) single nucleotide variant Conflicting interpretations of pathogenicity rs61752786 GRCh38 Chromosome 8, 142875713: 142875713
8 CYP11B1 NM_000497.3(CYP11B1): c.1120C> A (p.Arg374=) single nucleotide variant Conflicting interpretations of pathogenicity rs61752786 GRCh37 Chromosome 8, 143957129: 143957129
9 CYP11B1 NM_000497.3(CYP11B1): c.1003A> G (p.Asn335Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs61752766 GRCh38 Chromosome 8, 142875830: 142875830
10 CYP11B1 NM_000497.3(CYP11B1): c.1003A> G (p.Asn335Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs61752766 GRCh37 Chromosome 8, 143957246: 143957246
11 CYP11B2 NM_000498.3(CYP11B2): c.1157T> C (p.Val386Ala) single nucleotide variant Benign rs61757294 GRCh38 Chromosome 8, 142912850: 142912850
12 CYP11B2 NM_000498.3(CYP11B2): c.1157T> C (p.Val386Ala) single nucleotide variant Benign rs61757294 GRCh37 Chromosome 8, 143994266: 143994266
13 CYP11B1 CYP11B1, CYP11B1/CYP11B2 ANTI-LEPORE-LIKE CHIMERA undetermined variant Pathogenic
14 CYP11B1 NM_000497.3(CYP11B1): c.1353T> C (p.Leu451=) single nucleotide variant Likely benign rs5316 GRCh38 Chromosome 8, 142875002: 142875002
15 CYP11B2 NM_000498.3(CYP11B2): c.352G> A (p.Ala118Thr) single nucleotide variant Likely benign rs372556807 GRCh38 Chromosome 8, 142917102: 142917102
16 CYP11B2 NM_000498.3(CYP11B2): c.352G> A (p.Ala118Thr) single nucleotide variant Likely benign rs372556807 GRCh37 Chromosome 8, 143998518: 143998518
17 CYP11B2 NM_000498.3(CYP11B2): c.518A> G (p.Lys173Arg) single nucleotide variant Benign rs4539 GRCh38 Chromosome 8, 142915123: 142915123
18 CYP11B2 NM_000498.3(CYP11B2): c.518A> G (p.Lys173Arg) single nucleotide variant Benign rs4539 GRCh37 Chromosome 8, 143996539: 143996539
19 CYP11B1 NM_000497.3(CYP11B1): c.1488C> T (p.Leu496=) single nucleotide variant Uncertain significance rs776766470 GRCh37 Chromosome 8, 143955813: 143955813
20 CYP11B1 NM_000497.3(CYP11B1): c.1488C> T (p.Leu496=) single nucleotide variant Uncertain significance rs776766470 GRCh38 Chromosome 8, 142874397: 142874397
21 CYP11B2 NM_000498.3(CYP11B2): c.529C> T (p.Leu177=) single nucleotide variant Likely benign rs577489337 GRCh38 Chromosome 8, 142915112: 142915112
22 CYP11B2 NM_000498.3(CYP11B2): c.529C> T (p.Leu177=) single nucleotide variant Likely benign rs577489337 GRCh37 Chromosome 8, 143996528: 143996528
23 CYP11B1 NM_000497.3(CYP11B1): c.*468C> T single nucleotide variant Likely benign rs114832894 GRCh37 Chromosome 8, 143955321: 143955321
24 CYP11B1 NM_000497.3(CYP11B1): c.*468C> T single nucleotide variant Likely benign rs114832894 GRCh38 Chromosome 8, 142873905: 142873905
25 CYP11B2 NM_000498.3(CYP11B2): c.595+14G> A single nucleotide variant Likely benign rs5307 GRCh38 Chromosome 8, 142915032: 142915032
26 CYP11B2 NM_000498.3(CYP11B2): c.595+14G> A single nucleotide variant Likely benign rs5307 GRCh37 Chromosome 8, 143996448: 143996448
27 CYP11B2 NM_000498.3(CYP11B2): c.1016T> C (p.Ile339Thr) single nucleotide variant Benign rs4544 GRCh38 Chromosome 8, 142913390: 142913390
28 CYP11B2 NM_000498.3(CYP11B2): c.1016T> C (p.Ile339Thr) single nucleotide variant Benign rs4544 GRCh37 Chromosome 8, 143994806: 143994806
29 CYP11B2 NM_000498.3(CYP11B2): c.1039G> A (p.Ala347Thr) single nucleotide variant Uncertain significance rs746708275 GRCh38 Chromosome 8, 142913367: 142913367
30 CYP11B2 NM_000498.3(CYP11B2): c.1039G> A (p.Ala347Thr) single nucleotide variant Uncertain significance rs746708275 GRCh37 Chromosome 8, 143994783: 143994783
31 CYP11B2 NM_000498.3(CYP11B2): c.*431A> C single nucleotide variant Uncertain significance rs886062742 GRCh37 Chromosome 8, 143992965: 143992965
32 CYP11B2 NM_000498.3(CYP11B2): c.*431A> C single nucleotide variant Uncertain significance rs886062742 GRCh38 Chromosome 8, 142911549: 142911549
33 CYP11B2 NM_000498.3(CYP11B2): c.*532G> T single nucleotide variant Benign rs3802230 GRCh37 Chromosome 8, 143992864: 143992864
34 CYP11B2 NM_000498.3(CYP11B2): c.*532G> T single nucleotide variant Benign rs3802230 GRCh38 Chromosome 8, 142911448: 142911448
35 CYP11B2 NM_000498.3(CYP11B2): c.*537C> T single nucleotide variant Benign rs72499120 GRCh37 Chromosome 8, 143992859: 143992859
36 CYP11B2 NM_000498.3(CYP11B2): c.*537C> T single nucleotide variant Benign rs72499120 GRCh38 Chromosome 8, 142911443: 142911443
37 CYP11B2 NM_000498.3(CYP11B2): c.*579T> C single nucleotide variant Likely benign rs559136479 GRCh37 Chromosome 8, 143992817: 143992817
38 CYP11B2 NM_000498.3(CYP11B2): c.*579T> C single nucleotide variant Likely benign rs559136479 GRCh38 Chromosome 8, 142911401: 142911401
39 CYP11B1 NM_000497.3(CYP11B1): c.128G> A (p.Arg43Gln) single nucleotide variant Benign rs4534 GRCh38 Chromosome 8, 142879686: 142879686
40 CYP11B1 NM_000497.3(CYP11B1): c.128G> A (p.Arg43Gln) single nucleotide variant Benign rs4534 GRCh37 Chromosome 8, 143961102: 143961102
41 CYP11B1 NM_000497.3(CYP11B1): c.*848C> T single nucleotide variant Likely benign rs149520110 GRCh38 Chromosome 8, 142873525: 142873525
42 CYP11B1 NM_000497.3(CYP11B1): c.*848C> T single nucleotide variant Likely benign rs149520110 GRCh37 Chromosome 8, 143954941: 143954941
43 CYP11B1 NM_000497.3(CYP11B1): c.873G> A (p.Ala291=) single nucleotide variant Benign rs34570566 GRCh37 Chromosome 8, 143957738: 143957738
44 CYP11B1 NM_000497.3(CYP11B1): c.873G> A (p.Ala291=) single nucleotide variant Benign rs34570566 GRCh38 Chromosome 8, 142876322: 142876322
45 CYP11B1 NM_000497.3(CYP11B1): c.*857T> C single nucleotide variant Likely benign rs370725779 GRCh38 Chromosome 8, 142873516: 142873516
46 CYP11B1 NM_000497.3(CYP11B1): c.*857T> C single nucleotide variant Likely benign rs370725779 GRCh37 Chromosome 8, 143954932: 143954932
47 CYP11B1 NM_000497.3(CYP11B1): c.*1020C> T single nucleotide variant Benign rs5017238 GRCh38 Chromosome 8, 142873353: 142873353
48 CYP11B1 NM_000497.3(CYP11B1): c.*1020C> T single nucleotide variant Benign rs5017238 GRCh37 Chromosome 8, 143954769: 143954769
49 CYP11B1 NM_000497.3(CYP11B1): c.*1042A> G single nucleotide variant Benign rs7003319 GRCh38 Chromosome 8, 142873331: 142873331
50 CYP11B1 NM_000497.3(CYP11B1): c.*1042A> G single nucleotide variant Benign rs7003319 GRCh37 Chromosome 8, 143954747: 143954747

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 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 steroid hormone receptor activity GO:0003707 9.26 NR3C1 NR3C2
2 corticosterone 18-monooxygenase activity GO:0047783 9.16 CYP11B1 CYP11B2
3 steroid 11-beta-monooxygenase activity GO:0004507 8.96 CYP11B1 CYP11B2
4 steroid binding GO:0005496 8.8 HSD11B2 NR3C1 NR3C2

Sources for Hyperaldosteronism, Familial, Type I

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10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
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62 PubMed
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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
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74 UMLS via Orphanet
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