FH
MCID: FML156
MIFTS: 41

Familial Hyperaldosteronism (FH)

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

Aliases & Classifications for Familial Hyperaldosteronism

MalaCards integrated aliases for Familial Hyperaldosteronism:

Name: Familial Hyperaldosteronism 25 58 29 6 71
Fh 25 58
Familial Primary Aldosteronism 25
Hyperaldosteronism, Familial 25
Hereditary Aldosteronism 25

Characteristics:

Orphanet epidemiological data:

58
familial hyperaldosteronism
Inheritance: Autosomal dominant; Age of onset: All ages;

Classifications:

Orphanet: 58  
Rare circulatory system diseases
Rare renal diseases
Rare endocrine diseases


External Ids:

ICD10 via Orphanet 33 E26.0
UMLS via Orphanet 72 C3713420
Orphanet 58 ORPHA235936
UMLS 71 C3713420

Summaries for Familial Hyperaldosteronism

Genetics Home Reference : 25 Familial hyperaldosteronism is a group of inherited conditions in which the adrenal glands, which are small glands located on top of each kidney, produce too much of the hormone aldosterone. Aldosterone helps control the amount of salt retained by the kidneys. Excess aldosterone causes the kidneys to retain more salt than normal, which in turn increases the body's fluid levels and blood pressure. People with familial hyperaldosteronism may develop severe high blood pressure (hypertension), often early in life. Without treatment, hypertension increases the risk of strokes, heart attacks, and kidney failure. Familial hyperaldosteronism is categorized into three types, distinguished by their clinical features and genetic causes. In familial hyperaldosteronism type I, hypertension generally appears in childhood to early adulthood and can range from mild to severe. This type can be treated with steroid medications called glucocorticoids, so it is also known as glucocorticoid-remediable aldosteronism (GRA). In familial hyperaldosteronism type II, hypertension usually appears in early to middle adulthood and does not improve with glucocorticoid treatment. In most individuals with familial hyperaldosteronism type III, the adrenal glands are enlarged up to six times their normal size. These affected individuals have severe hypertension that starts in childhood. The hypertension is difficult to treat and often results in damage to organs such as the heart and kidneys. Rarely, individuals with type III have milder symptoms with treatable hypertension and no adrenal gland enlargement. There are other forms of hyperaldosteronism that are not familial. These conditions are caused by various problems in the adrenal glands or kidneys. In some cases, a cause for the increase in aldosterone levels cannot be found.

MalaCards based summary : Familial Hyperaldosteronism, also known as fh, is related to hyperaldosteronism, familial, type ii and hyperaldosteronism, familial, type i. An important gene associated with Familial Hyperaldosteronism is KCNJ5 (Potassium Inwardly Rectifying Channel Subfamily J Member 5), and among its related pathways/superpathways are Aldosterone synthesis and secretion and superpathway of steroid hormone biosynthesis. Affiliated tissues include heart, kidney and adrenal gland, and related phenotypes are cardiovascular system and endocrine/exocrine gland

Wikipedia : 74 Familial hyperaldosteronism is a group of inherited conditions in which the adrenal glands, which are... more...

Related Diseases for Familial Hyperaldosteronism

Diseases in the Familial Hyperaldosteronism family:

Hyperaldosteronism, Familial, Type I Hyperaldosteronism, Familial, Type Ii
Hyperaldosteronism, Familial, Type Iii Hyperaldosteronism, Familial, Type Iv
Rare Primary Hyperaldosteronism

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

(show top 50) (show all 194)
# Related Disease Score Top Affiliating Genes
1 hyperaldosteronism, familial, type ii 33.7 FHII CLCN2
2 hyperaldosteronism, familial, type i 32.7 LOC106799834 LOC106799833 KCNJ5 CYP11B2 CYP11B1 CACNA1H
3 cell type benign neoplasm 31.0 MEN1 KCNJ5 CYP11B2
4 endocrine organ benign neoplasm 30.7 MEN1 KCNJ5 CYP11B2 CYP11B1
5 aldosterone-producing adenoma 30.7 KCNJ5 CYP11B2
6 conn's syndrome 30.3 MEN1 KCNJ5 CYP11B2 CYP11B1 CACNA1H ARMC5
7 hypertension, essential 29.9 MEN1 KCNJ5 CYP11B2 CYP11B1 AGTR1
8 adenoma 29.6 MEN1 KCNJ5 CYP11B2 CYP11B1
9 adrenal adenoma 29.2 MEN1 KCNJ5 CYP11B2 CYP11B1
10 carney complex variant 29.1 MEN1 CYP11B1 ARMC5
11 hyperaldosteronism, familial, type iii 12.4
12 fumarase deficiency 12.3
13 hereditary leiomyomatosis and renal cell cancer 12.2
14 familial hypercholesterolemia 12.2
15 renal cell carcinoma, nonpapillary 12.1
16 floating-harbor syndrome 12.0
17 leiomyoma, uterine 12.0
18 renal cell carcinoma, papillary, 1 11.9
19 hypercholesterolemia, familial, 1 11.9
20 inherited cancer-predisposing syndrome 11.8
21 leiomyomatosis 11.7
22 leiomyoma 11.7
23 breast cancer 11.6
24 kidney cancer 11.6
25 leiomyosarcoma 11.6
26 paraganglioma 11.6
27 pheochromocytoma 11.6
28 myoma 11.6
29 hemolytic anemia 11.6
30 hyperaldosteronism, familial, type iv 11.6
31 leiomyoma cutis 11.5
32 metabolic acidosis 11.5
33 fumarate hydratase deficiency 11.4
34 hereditary paraganglioma-pheochromocytoma syndromes 11.3
35 smooth muscle tumor 11.3
36 hypercholesterolemia, familial, 4 11.3
37 encephalopathy 11.3
38 3-methylglutaconic aciduria, type iii 11.2
39 oncocytoma 11.2
40 brain cancer 11.2
41 cystic kidney disease 11.2
42 cutaneous leiomyosarcoma 11.2
43 birt-hogg-dube syndrome 11.0
44 mitochondrial complex ii deficiency 11.0
45 cardiomyopathy, dilated, 1gg 11.0
46 multiple enchondromatosis, maffucci type 11.0
47 reproductive organ benign neoplasm 11.0
48 uterine benign neoplasm 11.0
49 peritoneal benign neoplasm 11.0
50 persistent generalized lymphadenopathy 11.0

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



Diseases related to Familial Hyperaldosteronism

Symptoms & Phenotypes for Familial Hyperaldosteronism

MGI Mouse Phenotypes related to Familial Hyperaldosteronism:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.56 AGTR1 CACNA1H CLCN2 CYP11B1 CYP11B2 GNA12
2 endocrine/exocrine gland MP:0005379 9.17 ARMC5 CLCN2 CYP11B1 CYP11B2 GNA12 MEN1

Drugs & Therapeutics for Familial Hyperaldosteronism

Search Clinical Trials , NIH Clinical Center for Familial Hyperaldosteronism

Genetic Tests for Familial Hyperaldosteronism

Genetic tests related to Familial Hyperaldosteronism:

# Genetic test Affiliating Genes
1 Familial Hyperaldosteronism 29

Anatomical Context for Familial Hyperaldosteronism

MalaCards organs/tissues related to Familial Hyperaldosteronism:

40
Heart, Kidney, Adrenal Gland, Breast, Skin, Testes, Endothelial

Publications for Familial Hyperaldosteronism

Articles related to Familial Hyperaldosteronism:

(show top 50) (show all 137)
# Title Authors PMID Year
1
Somatic CACNA1H Mutation As a Cause of Aldosterone-Producing Adenoma. 61
31983310 2020
2
A somatic mutation in CLCN2 identified in a sporadic aldosterone-producing adenoma. 61
31491746 2019
3
CLCN2 clicks with aldosterone-producing adenomas, too! 61
31585437 2019
4
Elevated aldosterone and blood pressure in a mouse model of familial hyperaldosteronism with ClC-2 mutation. 61
31727896 2019
5
Adrenalectomy Completely Cured Hypertension in Patients With Familial Hyperaldosteronism Type I Who Had Somatic KCNJ5 Mutation. 61
31287546 2019
6
Genetic causes of primary aldosteronism. 61
31695023 2019
7
Letter to the Editor: "Adrenalectomy completely cured hypertension in familial hyperaldosteronism type I patients with somatic KCNJ5 mutation". 61
31633788 2019
8
Response to Letter to the Editor: Adrenalectomy completely cured hypertension in familial hyperaldosteronism type I patients with somatic KCNJ5 mutation. 61
31634403 2019
9
Mosaicism for KCNJ5 causing early-onset primary aldosteronism due to bilateral adrenocortical hyperplasia. 61
31637427 2019
10
Molecular mechanisms in primary aldosteronism 61
31397984 2019
11
Primary aldosteronism associated with a germline variant in CACNA1H. 61
31126930 2019
12
Pathogenesis of Familial Hyperaldosteronism Type II: New Concepts Involving Anion Channels. 61
30949771 2019
13
Familial hyperaldosteronism type III a novel case and review of literature. 61
30569443 2019
14
Inherited Forms of Primary Hyperaldosteronism: New Genes, New Phenotypes and Proposition of A New Classification. 61
30199917 2019
15
Timeline of Advances in Genetics of Primary Aldosteronism. 61
31588534 2019
16
Genetic aspects of primary hyperaldosteronism. 61
29938936 2018
17
Saga of Familial Hyperaldosteronism: Yet a New Channel. 61
29735637 2018
18
Overview of aldosterone-related genetic syndromes and recent advances. 61
29432258 2018
19
Comparative Genomics and Transcriptome Profiling in Primary Aldosteronism. 61
29642543 2018
20
CLCN2 chloride channel mutations in familial hyperaldosteronism type II. 61
29403011 2018
21
GENETICS IN ENDOCRINOLOGY: The expanding genetic horizon of primary aldosteronism. 61
29348113 2018
22
DIAGNOSIS OF ENDOCRINE DISEASE: 18-Oxocortisol and 18-hydroxycortisol: is there clinical utility of these steroids? 61
28904009 2018
23
Familial hyperaldosteronism type III. 61
28447626 2017
24
Unanswered Questions in the Genetic Basis of Primary Aldosteronism. 61
29065434 2017
25
ARMC5 is not implicated in familial hyperaldosteronism type II (FH-II). 61
29022889 2017
26
Genetic disorders in primary aldosteronism-familial and somatic. 61
27013018 2017
27
Disordered zonal and cellular CYP11B2 enzyme expression in familial hyperaldosteronism type 3. 61
27793677 2017
28
Functional characterization of two novel germline mutations of the KCNJ5 gene in hypertensive patients without primary aldosteronism but with ACTH-dependent aldosterone hypersecretion. 61
27293068 2016
29
Evaluation of a Recently Established Test for Familial Hyperaldosteronism Type 1. 61
27923252 2016
30
CACNA1H Mutations Are Associated With Different Forms of Primary Aldosteronism. 61
27729216 2016
31
A Novel Phenotype of Familial Hyperaldosteronism Type III: Concurrence of Aldosteronism and Cushing's Syndrome. 61
27403928 2016
32
Genetics of primary hyperaldosteronism. 61
27485459 2016
33
Prospective validation of an automated chemiluminescence-based assay of renin and aldosterone for the work-up of arterial hypertension. 61
26824982 2016
34
SFE/SFHTA/AFCE consensus on primary aldosteronism, part 4: Subtype diagnosis. 61
27036860 2016
35
SFE/SFHTA/AFCE consensus on primary aldosteronism, part 5: Genetic diagnosis of primary aldosteronism. 61
27315758 2016
36
Mutated KCNJ5 activates the acute and chronic regulatory steps in aldosterone production. 61
27099398 2016
37
Recent Developments in Primary Aldosteronism. 61
27219889 2016
38
Hyperplasia in glands with hormone excess. 61
26407873 2016
39
An Update on Familial Hyperaldosteronism. 61
26445452 2015
40
Bilateral Idiopathic Adrenal Hyperplasia: Genetics and Beyond. 61
26610199 2015
41
The molecular basis of primary aldosteronism: from chimeric gene to channelopathy. 61
25555247 2015
42
Genetics of primary aldosteronism. 61
25667376 2015
43
An update on novel mechanisms of primary aldosteronism. 61
25424518 2015
44
Pregnancy normalized familial hyperaldosteronism type I: a novel role for progesterone? 61
24943290 2015
45
A case of severe hyperaldosteronism caused by a de novo mutation affecting a critical salt bridge Kir3.4 residue. 61
25322277 2015
46
Understanding primary aldosteronism: impact of next generation sequencing and expression profiling. 61
25240470 2015
47
Channelopathies. 61
24578711 2014
48
Discordant genotype-phenotype correlation in familial hyperaldosteronism type III with KCNJ5 gene mutation: a patient report and review of the literature. 61
24819081 2014
49
Minireview: potassium channels and aldosterone dysregulation: is primary aldosteronism a potassium channelopathy? 61
24248457 2014
50
Overview of the genetic determinants of primary aldosteronism. 61
24817817 2014

Variations for Familial Hyperaldosteronism

ClinVar genetic disease variations for Familial Hyperaldosteronism:

6 (show top 50) (show all 98) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KCNJ5 NM_000890.5(KCNJ5):c.1159G>C (p.Gly387Arg)SNV Conflicting interpretations of pathogenicity 8856 rs199830292 11:128786525-128786525 11:128916630-128916630
2 KCNJ5 NM_000890.5(KCNJ5):c.591G>A (p.Ala197=)SNV Conflicting interpretations of pathogenicity 303629 rs750048771 11:128781759-128781759 11:128911864-128911864
3 KCNJ5 NM_000890.5(KCNJ5):c.968T>C (p.Met323Thr)SNV Uncertain significance 303632 rs886048011 11:128786334-128786334 11:128916439-128916439
4 KCNJ5 NM_000890.5(KCNJ5):c.*1024A>GSNV Uncertain significance 303659 rs886048018 11:128787650-128787650 11:128917755-128917755
5 KCNJ5 NM_000890.5(KCNJ5):c.*1151C>TSNV Uncertain significance 303662 rs886048019 11:128787777-128787777 11:128917882-128917882
6 KCNJ5 NM_000890.5(KCNJ5):c.*936C>GSNV Uncertain significance 303653 rs77525858 11:128787562-128787562 11:128917667-128917667
7 KCNJ5 NM_000890.5(KCNJ5):c.*978T>GSNV Uncertain significance 303658 rs886048017 11:128787604-128787604 11:128917709-128917709
8 KCNJ5 NM_000890.5(KCNJ5):c.*1323deldeletion Uncertain significance 303667 rs886048020 11:128787949-128787949 11:128918054-128918054
9 KCNJ5 NM_000890.5(KCNJ5):c.-303_-291delinsGAGindel Uncertain significance 303582 rs886047988 11:128761324-128761336 11:128891429-128891441
10 KCNJ5 NM_000890.5(KCNJ5):c.-295C>GSNV Uncertain significance 303601 rs372328307 11:128761332-128761332 11:128891437-128891437
11 KCNJ5 NM_000890.5(KCNJ5):c.-295_-291delinsGAGAGAGAGAGindel Uncertain significance 303595 rs886047995 11:128761332-128761336 11:128891437-128891441
12 KCNJ5 NM_000890.5(KCNJ5):c.-294_-293insGAGAinsertion Uncertain significance 303598 rs886047996 11:128761332-128761333 11:128891437-128891438
13 KCNJ5 NM_000890.5(KCNJ5):c.-293_-291delinsGAGAGAGAGAGAGAGAGAGindel Uncertain significance 303606 rs886047998 11:128761334-128761336 11:128891439-128891441
14 KCNJ5 NM_000890.5(KCNJ5):c.-303_-291delinsGAGAGindel Uncertain significance 303583 rs886047988 11:128761324-128761336 11:128891429-128891441
15 KCNJ5 NM_000890.5(KCNJ5):c.-303_-291delinsGAGAGAGAGAGAGAGAGAGAGAGindel Uncertain significance 303585 rs886047988 11:128761324-128761336 11:128891429-128891441
16 KCNJ5 NM_000890.5(KCNJ5):c.-301_-291delinsGindel Uncertain significance 303586 rs886047990 11:128761326-128761336 11:128891431-128891441
17 KCNJ5 NM_000890.5(KCNJ5):c.-301_-291delinsGAGAGAGAGAGAGAGindel Uncertain significance 303590 rs886047990 11:128761326-128761336 11:128891431-128891441
18 KCNJ5 NM_000890.5(KCNJ5):c.-295_-294GA[3]short repeat Uncertain significance 303594 rs886047994 11:128761330-128761331 11:128891435-128891436
19 KCNJ5 NM_000890.5(KCNJ5):c.-295_-291delinsGAGAGAGAGAGAGindel Uncertain significance 303596 rs886047995 11:128761332-128761336 11:128891437-128891441
20 KCNJ5 NM_000890.5(KCNJ5):c.-295_-291delinsGAGAGAGAGAGAGAGAGAGindel Uncertain significance 303597 rs886047995 11:128761332-128761336 11:128891437-128891441
21 KCNJ5 NM_000890.5(KCNJ5):c.-293C>GSNV Uncertain significance 303610 rs376640553 11:128761334-128761334 11:128891439-128891439
22 KCNJ5 NM_000890.5(KCNJ5):c.-293_-291delinsGAGAGAGAGAGAGAGAGindel Uncertain significance 303605 rs886047998 11:128761334-128761336 11:128891439-128891441
23 KCNJ5 NM_000890.5(KCNJ5):c.-291_-288deldeletion Uncertain significance 303611 rs886048001 11:128761335-128761338 11:128891440-128891443
24 KCNJ5 NM_000890.5(KCNJ5):c.-291_-286deldeletion Uncertain significance 303612 rs886048002 11:128761335-128761340 11:128891440-128891445
25 KCNJ5 NM_000890.5(KCNJ5):c.-291delinsGAGAGAGAGindel Uncertain significance 303613 rs886048003 11:128761336-128761336 11:128891441-128891441
26 KCNJ5 NM_000890.5(KCNJ5):c.-285G>CSNV Uncertain significance 303621 rs886048006 11:128761342-128761342 11:128891447-128891447
27 KCNJ5 NM_000890.5(KCNJ5):c.-253G>TSNV Uncertain significance 303625 rs886048009 11:128761374-128761374 11:128891479-128891479
28 KCNJ5 NM_000890.5(KCNJ5):c.800G>A (p.Arg267His)SNV Uncertain significance 303631 rs886048010 11:128781968-128781968 11:128912073-128912073
29 KCNJ5 NM_000890.5(KCNJ5):c.*103G>CSNV Uncertain significance 303636 rs886048012 11:128786729-128786729 11:128916834-128916834
30 KCNJ5 NM_000890.5(KCNJ5):c.*200C>ASNV Uncertain significance 303638 rs756204980 11:128786826-128786826 11:128916931-128916931
31 KCNJ5 NM_000890.5(KCNJ5):c.*228G>TSNV Uncertain significance 303639 rs886048013 11:128786854-128786854 11:128916959-128916959
32 KCNJ5 NM_000890.5(KCNJ5):c.*667C>TSNV Uncertain significance 303645 rs886048014 11:128787293-128787293 11:128917398-128917398
33 KCNJ5 NM_000890.5(KCNJ5):c.*747A>GSNV Uncertain significance 303646 rs886048015 11:128787373-128787373 11:128917478-128917478
34 KCNJ5 NM_000890.5(KCNJ5):c.*861_*865GTTTT[8]short repeat Uncertain significance 303650 rs36205004 11:128787486-128787490 11:128917591-128917595
35 KCNJ5 NM_000890.5(KCNJ5):c.-305_-291delinsGAGAGindel Uncertain significance 303581 rs886047987 11:128761322-128761336 11:128891427-128891441
36 KCNJ5 NM_000890.5(KCNJ5):c.-299_-291delinsGAGAGindel Uncertain significance 303591 rs886047992 11:128761328-128761336 11:128891433-128891441
37 KCNJ5 NM_000890.5(KCNJ5):c.-297_-291delinsGAGAGAGAGAGAGAGindel Uncertain significance 303592 rs886047993 11:128761330-128761336 11:128891435-128891441
38 KCNJ5 NM_000890.5(KCNJ5):c.-297_-291delinsGAGAGAGAGAGAGAGAGindel Uncertain significance 303593 rs886047993 11:128761330-128761336 11:128891435-128891441
39 KCNJ5 NM_000890.5(KCNJ5):c.-293_-291delinsGAGAGAGAGAGAGindel Uncertain significance 303604 rs886047998 11:128761334-128761336 11:128891439-128891441
40 KCNJ5 NM_000890.5(KCNJ5):c.-333_-332CA[24]short repeat Uncertain significance 303615 rs113761140 11:128761292-128761293 11:128891397-128891398
41 KCNJ5 NM_000890.5(KCNJ5):c.-293_-288deldeletion Uncertain significance 303602 rs886047997 11:128761333-128761338 11:128891438-128891443
42 KCNJ5 NM_000890.5(KCNJ5):c.-291_-290GA[3]short repeat Uncertain significance 303609 rs886048000 11:128761334-128761335 11:128891439-128891440
43 KCNJ5 NM_000890.5(KCNJ5):c.-287G>CSNV Uncertain significance 303619 rs868130049 11:128761340-128761340 11:128891445-128891445
44 KCNJ5 NM_000890.5(KCNJ5):c.-284_-283insAAGAGAinsertion Uncertain significance 303620 rs886048005 11:128761338-128761339 11:128891443-128891444
45 KCNJ5 NM_000890.5(KCNJ5):c.-289_-288GA[20]short repeat Uncertain significance 303622 rs71057905 11:128761336-128761337 11:128891441-128891442
46 KCNJ5 NM_000890.5(KCNJ5):c.-289_-288GA[18]short repeat Uncertain significance 303616 rs71057905 11:128761336-128761337 11:128891441-128891442
47 KCNJ5 NM_000890.5(KCNJ5):c.-303_-291delinsGAGAGAGindel Uncertain significance 303584 rs886047988 11:128761324-128761336 11:128891429-128891441
48 KCNJ5 NM_000890.5(KCNJ5):c.-301_-291delinsGAGindel Uncertain significance 303587 rs886047990 11:128761326-128761336 11:128891431-128891441
49 KCNJ5 NM_000890.5(KCNJ5):c.-301_-291delinsGAGAGindel Uncertain significance 303588 rs886047990 11:128761326-128761336 11:128891431-128891441
50 KCNJ5 NM_000890.5(KCNJ5):c.-301_-291delinsGAGAGAGindel Uncertain significance 303589 rs886047990 11:128761326-128761336 11:128891431-128891441

Expression for Familial Hyperaldosteronism

Search GEO for disease gene expression data for Familial Hyperaldosteronism.

Pathways for Familial Hyperaldosteronism

Pathways related to Familial Hyperaldosteronism according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.94 MEN1 KCNJ5 CYP11B2 CYP11B1 CACNA1H ARMC5
2
Show member pathways
10.3 CYP11B2 CYP11B1

GO Terms for Familial Hyperaldosteronism

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

# Name GO ID Score Top Affiliating Genes
1 regulation of ion transmembrane transport GO:0034765 9.63 KCNJ5 CLCN2 CACNA1H
2 cellular response to hormone stimulus GO:0032870 9.54 CYP11B2 CYP11B1 CACNA1H
3 sterol metabolic process GO:0016125 9.48 CYP11B2 CYP11B1
4 C21-steroid hormone biosynthetic process GO:0006700 9.43 CYP11B2 CYP11B1
5 cellular response to peptide hormone stimulus GO:0071375 9.43 MEN1 CYP11B2 CYP11B1
6 glucocorticoid biosynthetic process GO:0006704 9.4 CYP11B2 CYP11B1
7 cellular response to potassium ion GO:0035865 9.33 CYP11B2 CYP11B1 CACNA1H
8 cortisol metabolic process GO:0034650 9.32 CYP11B2 CYP11B1
9 cortisol biosynthetic process GO:0034651 9.13 CYP11B2 CYP11B1 CACNA1H
10 aldosterone biosynthetic process GO:0032342 8.8 CYP11B2 CYP11B1 CACNA1H

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

# Name GO ID Score Top Affiliating Genes
1 corticosterone 18-monooxygenase activity GO:0047783 8.96 CYP11B2 CYP11B1
2 steroid 11-beta-monooxygenase activity GO:0004507 8.62 CYP11B2 CYP11B1

Sources for Familial Hyperaldosteronism

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