HALD4
MCID: HYP708
MIFTS: 30

Hyperaldosteronism, Familial, Type Iv (HALD4)

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

Aliases & Classifications for Hyperaldosteronism, Familial, Type Iv

MalaCards integrated aliases for Hyperaldosteronism, Familial, Type Iv:

Name: Hyperaldosteronism, Familial, Type Iv 57 72 29 6 39
Hald4 57 72
Fh Iv 57 72
Aldosteronism, Primary, and Hypertension 57
Primary Aldosteronism and Hypertension 72
Hyperaldosteronism, Familial, 4 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
incomplete penetrance in some families
onset of hypertension in the first decade of life


HPO:

31
hyperaldosteronism, familial, type iv:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 617027
OMIM Phenotypic Series 57 PS103900
MeSH 44 D006929
SNOMED-CT via HPO 68 24184005 263681008 38341003

Summaries for Hyperaldosteronism, Familial, Type Iv

UniProtKB/Swiss-Prot : 72 Hyperaldosteronism, familial, 4: A form of familial hyperaldosteronism, a disorder characterized by hypertension, elevated aldosterone levels despite low plasma renin activity, and abnormal adrenal steroid production. There is significant phenotypic heterogeneity, and some individuals never develop hypertension.

MalaCards based summary : Hyperaldosteronism, Familial, Type Iv, also known as hald4, is related to hypertension, essential and 47,xyy. An important gene associated with Hyperaldosteronism, Familial, Type Iv is CACNA1H (Calcium Voltage-Gated Channel Subunit Alpha1 H). The drug Captopril has been mentioned in the context of this disorder. Affiliated tissues include adrenal gland, and related phenotype is hypertension.

More information from OMIM: 617027 PS103900

Related Diseases for Hyperaldosteronism, Familial, Type Iv

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 Hyperaldosteronism, Familial, Type Iv via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hypertension, essential 10.0
2 47,xyy 10.0
3 back pain 10.0

Symptoms & Phenotypes for Hyperaldosteronism, Familial, Type Iv

Human phenotypes related to Hyperaldosteronism, Familial, Type Iv:

31
# Description HPO Frequency HPO Source Accession
1 hypertension 31 HP:0000822

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Cardiovascular Vascular:
hypertension

Laboratory Abnormalities:
elevated aldosterone levels
low renin levels

Endocrine Features:
microscopic hyperplasia of adrenal gland glomerulosa

Clinical features from OMIM®:

617027 (Updated 05-Apr-2021)

Drugs & Therapeutics for Hyperaldosteronism, Familial, Type Iv

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Captopril Approved 62571-86-2 44093

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Prospective Assessment of The Prevalence of Primary Aldosteronism in Hypertensive Patients Presenting With Atrial Flutter or Fibrillation Completed NCT01267747
2 Primary Aldosteronism In Hypertensive Patients in China Completed NCT03155139
3 Prevalence of Primary Aldosteronism Among Hypertensive Patients Younger Than 65 Years Old With Atrial Arythmia Recruiting NCT04115280

Search NIH Clinical Center for Hyperaldosteronism, Familial, Type Iv

Genetic Tests for Hyperaldosteronism, Familial, Type Iv

Genetic tests related to Hyperaldosteronism, Familial, Type Iv:

# Genetic test Affiliating Genes
1 Hyperaldosteronism, Familial, Type Iv 29 CACNA1H

Anatomical Context for Hyperaldosteronism, Familial, Type Iv

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

40
Adrenal Gland

Publications for Hyperaldosteronism, Familial, Type Iv

Articles related to Hyperaldosteronism, Familial, Type Iv:

# Title Authors PMID Year
1
Recurrent gain of function mutation in calcium channel CACNA1H causes early-onset hypertension with primary aldosteronism. 6 57
25907736 2015
2
Molecular Basis of Primary Aldosteronism and Adrenal Cushing Syndrome. 61
32783015 2020
3
Familial hyperaldosteronism type III a novel case and review of literature. 61
30569443 2019
4
Inherited Forms of Primary Hyperaldosteronism: New Genes, New Phenotypes and Proposition of A New Classification. 61
30199917 2019
5
GENETICS IN ENDOCRINOLOGY: The expanding genetic horizon of primary aldosteronism. 61
29348113 2018
6
Familial hyperaldosteronism type III. 61
28447626 2017
7
Somatic and inherited mutations in primary aldosteronism. 61
28400483 2017
8
SFE/SFHTA/AFCE consensus on primary aldosteronism, part 5: Genetic diagnosis of primary aldosteronism. 61
27315758 2016
9
Renal function as an indicator of prognosis in malignant essential hypertension. 61
7089493 1982

Variations for Hyperaldosteronism, Familial, Type Iv

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

6 (show top 50) (show all 983)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CACNA1H NM_021098.3(CACNA1H):c.4645A>G (p.Met1549Val) SNV Pathogenic 189779 rs786205050 GRCh37: 16:1262024-1262024
GRCh38: 16:1212024-1212024
2 CACNA1H NM_021098.3(CACNA1H):c.3559G>A (p.Gly1187Arg) SNV Uncertain significance 460088 rs772258959 GRCh37: 16:1259227-1259227
GRCh38: 16:1209227-1209227
3 CACNA1H NM_021098.3(CACNA1H):c.4929+5G>A SNV Uncertain significance 460133 rs1054400971 GRCh37: 16:1263936-1263936
GRCh38: 16:1213936-1213936
4 CACNA1H NM_021098.3(CACNA1H):c.3649C>T (p.Arg1217Cys) SNV Uncertain significance 460093 rs778684497 GRCh37: 16:1259317-1259317
GRCh38: 16:1209317-1209317
5 CACNA1H NM_021098.3(CACNA1H):c.4822C>T (p.Arg1608Cys) SNV Uncertain significance 460127 rs531597200 GRCh37: 16:1263824-1263824
GRCh38: 16:1213824-1213824
6 CACNA1H NM_021098.3(CACNA1H):c.6358C>A (p.Pro2120Thr) SNV Uncertain significance 460165 rs1225788473 GRCh37: 16:1270290-1270290
GRCh38: 16:1220290-1220290
7 CACNA1H NM_021098.3(CACNA1H):c.6748C>A (p.Arg2250Ser) SNV Uncertain significance 460177 rs375586314 GRCh37: 16:1270680-1270680
GRCh38: 16:1220680-1220680
8 CACNA1H NM_021098.3(CACNA1H):c.6565C>T (p.Pro2189Ser) SNV Uncertain significance 460171 rs538538654 GRCh37: 16:1270497-1270497
GRCh38: 16:1220497-1220497
9 CACNA1H NM_021098.3(CACNA1H):c.5020C>T (p.Arg1674Cys) SNV Uncertain significance 460136 rs771932368 GRCh37: 16:1265062-1265062
GRCh38: 16:1215062-1215062
10 CACNA1H NM_021098.3(CACNA1H):c.5446-6C>A SNV Uncertain significance 460144 rs923710949 GRCh37: 16:1268204-1268204
GRCh38: 16:1218204-1218204
11 CACNA1H NM_021098.3(CACNA1H):c.2705G>A (p.Arg902Gln) SNV Uncertain significance 460070 rs748252386 GRCh37: 16:1256205-1256205
GRCh38: 16:1206205-1206205
12 CACNA1H NM_021098.3(CACNA1H):c.3644G>A (p.Arg1215His) SNV Uncertain significance 460092 rs370838298 GRCh37: 16:1259312-1259312
GRCh38: 16:1209312-1209312
13 CACNA1H NM_021098.3(CACNA1H):c.6383G>A (p.Gly2128Asp) SNV Uncertain significance 460166 rs772416042 GRCh37: 16:1270315-1270315
GRCh38: 16:1220315-1220315
14 CACNA1H NM_021098.3(CACNA1H):c.6032G>A (p.Arg2011Gln) SNV Uncertain significance 460158 rs554063452 GRCh37: 16:1269114-1269114
GRCh38: 16:1219114-1219114
15 CACNA1H NM_021098.3(CACNA1H):c.733G>A (p.Gly245Ser) SNV Uncertain significance 460186 rs774687054 GRCh37: 16:1248704-1248704
GRCh38: 16:1198704-1198704
16 CACNA1H NM_021098.3(CACNA1H):c.300-8G>T SNV Uncertain significance 460075 rs3751662 GRCh37: 16:1244964-1244964
GRCh38: 16:1194964-1194964
17 CACNA1H NM_021098.3(CACNA1H):c.6749G>A (p.Arg2250His) SNV Uncertain significance 460178 rs554435610 GRCh37: 16:1270681-1270681
GRCh38: 16:1220681-1220681
18 CACNA1H NM_021098.3(CACNA1H):c.4762A>G (p.Thr1588Ala) SNV Uncertain significance 460124 rs1555517834 GRCh37: 16:1262513-1262513
GRCh38: 16:1212513-1212513
19 CACNA1H NM_021098.3(CACNA1H):c.790A>G (p.Ser264Gly) SNV Uncertain significance 460187 rs745571869 GRCh37: 16:1248761-1248761
GRCh38: 16:1198761-1198761
20 CACNA1H NM_021098.3(CACNA1H):c.1453C>T (p.Arg485Cys) SNV Uncertain significance 460045 rs765665281 GRCh37: 16:1251903-1251903
GRCh38: 16:1201903-1201903
21 CACNA1H NM_021098.3(CACNA1H):c.3082G>A (p.Asp1028Asn) SNV Uncertain significance 460076 rs745354512 GRCh37: 16:1257788-1257788
GRCh38: 16:1207788-1207788
22 CACNA1H NM_021098.3(CACNA1H):c.5765C>T (p.Ser1922Phe) SNV Uncertain significance 460153 rs919557968 GRCh37: 16:1268529-1268529
GRCh38: 16:1218529-1218529
23 CACNA1H NM_021098.3(CACNA1H):c.4906A>G (p.Met1636Val) SNV Uncertain significance 460132 rs371096587 GRCh37: 16:1263908-1263908
GRCh38: 16:1213908-1213908
24 CACNA1H NM_021098.3(CACNA1H):c.5207G>A (p.Arg1736His) SNV Uncertain significance 460140 rs3889063 GRCh37: 16:1265556-1265556
GRCh38: 16:1215556-1215556
25 CACNA1H NM_021098.3(CACNA1H):c.4558G>A (p.Asp1520Asn) SNV Uncertain significance 460119 rs555853603 GRCh37: 16:1261797-1261797
GRCh38: 16:1211797-1211797
26 CACNA1H NM_021098.3(CACNA1H):c.3422_3442del (p.Arg1141_Ser1147del) Deletion Uncertain significance 460087 rs746597383 GRCh37: 16:1259079-1259099
GRCh38: 16:1209079-1209099
27 CACNA1H NM_021098.3(CACNA1H):c.6031C>T (p.Arg2011Trp) SNV Uncertain significance 460157 rs753241781 GRCh37: 16:1269113-1269113
GRCh38: 16:1219113-1219113
28 CACNA1H NM_021098.3(CACNA1H):c.4931C>T (p.Ser1644Leu) SNV Uncertain significance 529551 rs745902196 GRCh37: 16:1264973-1264973
GRCh38: 16:1214973-1214973
29 CACNA1H NM_021098.3(CACNA1H):c.2389C>T (p.Arg797Cys) SNV Uncertain significance 529552 rs183042575 GRCh37: 16:1254396-1254396
GRCh38: 16:1204396-1204396
30 CACNA1H NM_021098.3(CACNA1H):c.6511T>C (p.Trp2171Arg) SNV Uncertain significance 529556 rs746446797 GRCh37: 16:1270443-1270443
GRCh38: 16:1220443-1220443
31 CACNA1H NM_021098.3(CACNA1H):c.3059C>A (p.Ala1020Glu) SNV Uncertain significance 529558 rs771994752 GRCh37: 16:1257426-1257426
GRCh38: 16:1207426-1207426
32 CACNA1H NM_021098.3(CACNA1H):c.2001T>A (p.His667Gln) SNV Uncertain significance 529559 rs1180154075 GRCh37: 16:1252451-1252451
GRCh38: 16:1202451-1202451
33 CACNA1H NM_021098.3(CACNA1H):c.6295G>A (p.Glu2099Lys) SNV Uncertain significance 529560 rs774769004 GRCh37: 16:1270227-1270227
GRCh38: 16:1220227-1220227
34 CACNA1H NM_021098.3(CACNA1H):c.6311_6325del (p.Ile2104_Cys2109delinsSer) Deletion Uncertain significance 529561 rs774660673 GRCh37: 16:1270243-1270257
GRCh38: 16:1220243-1220257
35 CACNA1H NM_021098.3(CACNA1H):c.6253G>C (p.Ala2085Pro) SNV Uncertain significance 529562 rs1555520840 GRCh37: 16:1270185-1270185
GRCh38: 16:1220185-1220185
36 CACNA1H NM_021098.3(CACNA1H):c.4448G>A (p.Arg1483His) SNV Uncertain significance 529564 rs774455553 GRCh37: 16:1261578-1261578
GRCh38: 16:1211578-1211578
37 CACNA1H NM_021098.3(CACNA1H):c.1769G>A (p.Arg590Gln) SNV Uncertain significance 529565 rs748210497 GRCh37: 16:1252219-1252219
GRCh38: 16:1202219-1202219
38 CACNA1H NM_021098.3(CACNA1H):c.6197G>C (p.Ser2066Thr) SNV Uncertain significance 529566 rs369917102 GRCh37: 16:1270129-1270129
GRCh38: 16:1220129-1220129
39 CACNA1H NM_021098.3(CACNA1H):c.6014G>A (p.Arg2005His) SNV Uncertain significance 529567 rs368553931 GRCh37: 16:1269096-1269096
GRCh38: 16:1219096-1219096
40 CACNA1H NM_021098.3(CACNA1H):c.912C>G (p.His304Gln) SNV Uncertain significance 529568 rs377665479 GRCh37: 16:1250364-1250364
GRCh38: 16:1200364-1200364
41 CACNA1H NM_021098.3(CACNA1H):c.1870G>A (p.Gly624Ser) SNV Uncertain significance 529569 rs750987846 GRCh37: 16:1252320-1252320
GRCh38: 16:1202320-1202320
42 CACNA1H NM_021098.3(CACNA1H):c.6593C>T (p.Ala2198Val) SNV Uncertain significance 529570 rs776473889 GRCh37: 16:1270525-1270525
GRCh38: 16:1220525-1220525
43 CACNA1H NM_021098.3(CACNA1H):c.1405C>T (p.Arg469Cys) SNV Uncertain significance 529572 rs746748953 GRCh37: 16:1251855-1251855
GRCh38: 16:1201855-1201855
44 CACNA1H NM_021098.3(CACNA1H):c.2264G>A (p.Gly755Asp) SNV Uncertain significance 529573 rs142306293 GRCh37: 16:1254271-1254271
GRCh38: 16:1204271-1204271
45 CACNA1H NM_021098.3(CACNA1H):c.4759+1G>A SNV Uncertain significance 529575 rs1406256818 GRCh37: 16:1262139-1262139
GRCh38: 16:1212139-1212139
46 CACNA1H NM_021098.3(CACNA1H):c.3256C>T (p.Pro1086Ser) SNV Uncertain significance 529576 rs1049677203 GRCh37: 16:1258114-1258114
GRCh38: 16:1208114-1208114
47 CACNA1H NM_021098.3(CACNA1H):c.4435C>A (p.Arg1479Ser) SNV Uncertain significance 529577 rs181140276 GRCh37: 16:1261565-1261565
GRCh38: 16:1211565-1211565
48 CACNA1H NM_021098.3(CACNA1H):c.4787G>A (p.Arg1596His) SNV Uncertain significance 529578 rs1458781875 GRCh37: 16:1263789-1263789
GRCh38: 16:1213789-1213789
49 CACNA1H NM_021098.3(CACNA1H):c.1850T>C (p.Leu617Pro) SNV Uncertain significance 529581 rs1433856447 GRCh37: 16:1252300-1252300
GRCh38: 16:1202300-1202300
50 CACNA1H NM_021098.3(CACNA1H):c.4739G>A (p.Arg1580His) SNV Uncertain significance 529584 rs200627008 GRCh37: 16:1262118-1262118
GRCh38: 16:1212118-1212118

UniProtKB/Swiss-Prot genetic disease variations for Hyperaldosteronism, Familial, Type Iv:

72
# Symbol AA change Variation ID SNP ID
1 CACNA1H p.Ser196Leu VAR_077064 rs780596901
2 CACNA1H p.Met1549Ile VAR_077065
3 CACNA1H p.Met1549Val VAR_077066 rs786205050
4 CACNA1H p.Pro2083Leu VAR_077068 rs759924732

Expression for Hyperaldosteronism, Familial, Type Iv

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

Pathways for Hyperaldosteronism, Familial, Type Iv

GO Terms for Hyperaldosteronism, Familial, Type Iv

Sources for Hyperaldosteronism, Familial, Type Iv

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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