MCID: HYP708
MIFTS: 18

Hyperaldosteronism, Familial, Type Iv

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

Aliases & Classifications for Hyperaldosteronism, Familial, Type Iv

MalaCards integrated aliases for Hyperaldosteronism, Familial, Type Iv:

Name: Hyperaldosteronism, Familial, Type Iv 57 75 29 6 40
Hald4 57 75
Fh Iv 57 75
Aldosteronism, Primary, and Hypertension 57
Primary Aldosteronism and Hypertension 75
Hyperaldosteronism, Familial, 4 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
hyperaldosteronism, familial, type iv:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 617027
MeSH 44 D006929
SNOMED-CT via HPO 69 263681008 24184005 38341003

Summaries for Hyperaldosteronism, Familial, Type Iv

UniProtKB/Swiss-Prot : 75 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, is also known as hald4. An important gene associated with Hyperaldosteronism, Familial, Type Iv is CACNA1H (Calcium Voltage-Gated Channel Subunit Alpha1 H). Affiliated tissues include adrenal gland, and related phenotype is hypertension.

Description from OMIM: 617027

Related Diseases for Hyperaldosteronism, Familial, Type Iv

Symptoms & Phenotypes for Hyperaldosteronism, Familial, Type Iv

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Vascular:
hypertension

Laboratory Abnormalities:
elevated aldosterone levels
low renin levels

Endocrine Features:
microscopic hyperplasia of adrenal gland glomerulosa


Clinical features from OMIM:

617027

Human phenotypes related to Hyperaldosteronism, Familial, Type Iv:

32
# Description HPO Frequency HPO Source Accession
1 hypertension 32 HP:0000822

Drugs & Therapeutics for Hyperaldosteronism, Familial, Type Iv

Search Clinical Trials , 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:

41
Adrenal Gland

Publications for Hyperaldosteronism, Familial, Type Iv

Variations for Hyperaldosteronism, Familial, Type Iv

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

75
# 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

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

6
(show top 50) (show all 643)
# Gene Variation Type Significance SNP ID Assembly Location
1 CACNA1H NM_021098.2(CACNA1H): c.1853C> T (p.Pro618Leu) single nucleotide variant risk factor rs60734921 GRCh37 Chromosome 16, 1252303: 1252303
2 CACNA1H NM_021098.2(CACNA1H): c.1853C> T (p.Pro618Leu) single nucleotide variant risk factor rs60734921 GRCh38 Chromosome 16, 1202303: 1202303
3 CACNA1H NM_021098.2(CACNA1H): c.5897C> T (p.Ala1966Val) single nucleotide variant Benign rs72552054 GRCh37 Chromosome 16, 1268979: 1268979
4 CACNA1H NM_021098.2(CACNA1H): c.5897C> T (p.Ala1966Val) single nucleotide variant Benign rs72552054 GRCh38 Chromosome 16, 1218979: 1218979
5 CACNA1H NM_021098.2(CACNA1H): c.3206G> A (p.Arg1069Gln) single nucleotide variant Benign/Likely benign rs57633676 GRCh37 Chromosome 16, 1258064: 1258064
6 CACNA1H NM_021098.2(CACNA1H): c.3206G> A (p.Arg1069Gln) single nucleotide variant Benign/Likely benign rs57633676 GRCh38 Chromosome 16, 1208064: 1208064
7 CACNA1H CACNA1H, MET1549VAL single nucleotide variant Pathogenic
8 CACNA1H NM_021098.2(CACNA1H): c.3744+1G> A single nucleotide variant Uncertain significance rs770718464 GRCh37 Chromosome 16, 1259413: 1259413
9 CACNA1H NM_021098.2(CACNA1H): c.3744+1G> A single nucleotide variant Uncertain significance rs770718464 GRCh38 Chromosome 16, 1209413: 1209413
10 CACNA1H NM_021098.2(CACNA1H): c.2759C> T (p.Thr920Met) single nucleotide variant Benign/Likely benign rs59052554 GRCh37 Chromosome 16, 1256259: 1256259
11 CACNA1H NM_021098.2(CACNA1H): c.2759C> T (p.Thr920Met) single nucleotide variant Benign/Likely benign rs59052554 GRCh38 Chromosome 16, 1206259: 1206259
12 CACNA1H NM_021098.2(CACNA1H): c.5113G> A (p.Ala1705Thr) single nucleotide variant Benign/Likely benign rs148651456 GRCh37 Chromosome 16, 1265315: 1265315
13 CACNA1H NM_021098.2(CACNA1H): c.5113G> A (p.Ala1705Thr) single nucleotide variant Benign/Likely benign rs148651456 GRCh38 Chromosome 16, 1215315: 1215315
14 CACNA1H NM_021098.2(CACNA1H): c.3646G> A (p.Asp1216Asn) single nucleotide variant Uncertain significance rs754581272 GRCh37 Chromosome 16, 1259314: 1259314
15 CACNA1H NM_021098.2(CACNA1H): c.3646G> A (p.Asp1216Asn) single nucleotide variant Uncertain significance rs754581272 GRCh38 Chromosome 16, 1209314: 1209314
16 CACNA1H NM_021098.2(CACNA1H): c.5173+10C> T single nucleotide variant Benign/Likely benign rs72554026 GRCh37 Chromosome 16, 1265385: 1265385
17 CACNA1H NM_021098.2(CACNA1H): c.5173+10C> T single nucleotide variant Benign/Likely benign rs72554026 GRCh38 Chromosome 16, 1215385: 1215385
18 CACNA1H NM_021098.2(CACNA1H): c.546-10C> T single nucleotide variant Benign rs35509671 GRCh37 Chromosome 16, 1245916: 1245916
19 CACNA1H NM_021098.2(CACNA1H): c.546-10C> T single nucleotide variant Benign rs35509671 GRCh38 Chromosome 16, 1195916: 1195916
20 CACNA1H NM_021098.2(CACNA1H): c.3439A> G (p.Ser1147Gly) single nucleotide variant Benign rs780122141 GRCh37 Chromosome 16, 1259107: 1259107
21 CACNA1H NM_021098.2(CACNA1H): c.3439A> G (p.Ser1147Gly) single nucleotide variant Benign rs780122141 GRCh38 Chromosome 16, 1209107: 1209107
22 CACNA1H NM_021098.2(CACNA1H): c.4120G> A (p.Val1374Met) single nucleotide variant Uncertain significance rs201855332 GRCh38 Chromosome 16, 1210868: 1210868
23 CACNA1H NM_021098.2(CACNA1H): c.4120G> A (p.Val1374Met) single nucleotide variant Uncertain significance rs201855332 GRCh37 Chromosome 16, 1260868: 1260868
24 CACNA1H NM_021098.2(CACNA1H): c.5921A> G (p.Glu1974Gly) single nucleotide variant Benign rs3751886 GRCh38 Chromosome 16, 1219003: 1219003
25 CACNA1H NM_021098.2(CACNA1H): c.5921A> G (p.Glu1974Gly) single nucleotide variant Benign rs3751886 GRCh37 Chromosome 16, 1269003: 1269003
26 CACNA1H NM_021098.2(CACNA1H): c.108G> C (p.Pro36=) single nucleotide variant Likely benign rs28365126 GRCh37 Chromosome 16, 1203845: 1203845
27 CACNA1H NM_021098.2(CACNA1H): c.108G> C (p.Pro36=) single nucleotide variant Likely benign rs28365126 GRCh38 Chromosome 16, 1153845: 1153845
28 CACNA1H NM_021098.2(CACNA1H): c.366C> G (p.Pro122=) single nucleotide variant Likely benign rs372041705 GRCh37 Chromosome 16, 1245038: 1245038
29 CACNA1H NM_021098.2(CACNA1H): c.366C> G (p.Pro122=) single nucleotide variant Likely benign rs372041705 GRCh38 Chromosome 16, 1195038: 1195038
30 CACNA1H NM_021098.2(CACNA1H): c.390C> T (p.Ser130=) single nucleotide variant Benign rs59794024 GRCh37 Chromosome 16, 1245062: 1245062
31 CACNA1H NM_021098.2(CACNA1H): c.390C> T (p.Ser130=) single nucleotide variant Benign rs59794024 GRCh38 Chromosome 16, 1195062: 1195062
32 CACNA1H NM_021098.2(CACNA1H): c.801C> T (p.Val267=) single nucleotide variant Likely benign rs372726042 GRCh37 Chromosome 16, 1248772: 1248772
33 CACNA1H NM_021098.2(CACNA1H): c.801C> T (p.Val267=) single nucleotide variant Likely benign rs372726042 GRCh38 Chromosome 16, 1198772: 1198772
34 CACNA1H NM_021098.2(CACNA1H): c.809A> C (p.Asn270Thr) single nucleotide variant Likely benign rs200520956 GRCh37 Chromosome 16, 1250261: 1250261
35 CACNA1H NM_021098.2(CACNA1H): c.809A> C (p.Asn270Thr) single nucleotide variant Likely benign rs200520956 GRCh38 Chromosome 16, 1200261: 1200261
36 CACNA1H NM_021098.2(CACNA1H): c.1029C> T (p.Tyr343=) single nucleotide variant Likely benign rs375894182 GRCh38 Chromosome 16, 1200481: 1200481
37 CACNA1H NM_021098.2(CACNA1H): c.1029C> T (p.Tyr343=) single nucleotide variant Likely benign rs375894182 GRCh37 Chromosome 16, 1250481: 1250481
38 CACNA1H NM_021098.2(CACNA1H): c.1120-8C> T single nucleotide variant Benign rs59091981 GRCh38 Chromosome 16, 1200708: 1200708
39 CACNA1H NM_021098.2(CACNA1H): c.1120-8C> T single nucleotide variant Benign rs59091981 GRCh37 Chromosome 16, 1250708: 1250708
40 CACNA1H NM_021098.2(CACNA1H): c.1453C> T (p.Arg485Cys) single nucleotide variant Uncertain significance rs765665281 GRCh38 Chromosome 16, 1201903: 1201903
41 CACNA1H NM_021098.2(CACNA1H): c.1453C> T (p.Arg485Cys) single nucleotide variant Uncertain significance rs765665281 GRCh37 Chromosome 16, 1251903: 1251903
42 CACNA1H NM_021098.2(CACNA1H): c.1479T> C (p.Ser493=) single nucleotide variant Benign rs60415676 GRCh37 Chromosome 16, 1251929: 1251929
43 CACNA1H NM_021098.2(CACNA1H): c.1479T> C (p.Ser493=) single nucleotide variant Benign rs60415676 GRCh38 Chromosome 16, 1201929: 1201929
44 CACNA1H NM_021098.2(CACNA1H): c.1502G> A (p.Gly501Glu) single nucleotide variant Likely benign rs768197900 GRCh37 Chromosome 16, 1251952: 1251952
45 CACNA1H NM_021098.2(CACNA1H): c.1502G> A (p.Gly501Glu) single nucleotide variant Likely benign rs768197900 GRCh38 Chromosome 16, 1201952: 1201952
46 CACNA1H NM_021098.2(CACNA1H): c.1824G> A (p.Leu608=) single nucleotide variant Benign rs57260464 GRCh37 Chromosome 16, 1252274: 1252274
47 CACNA1H NM_021098.2(CACNA1H): c.1824G> A (p.Leu608=) single nucleotide variant Benign rs57260464 GRCh38 Chromosome 16, 1202274: 1202274
48 CACNA1H NM_021098.2(CACNA1H): c.2030C> T (p.Ser677Leu) single nucleotide variant Benign rs181892888 GRCh37 Chromosome 16, 1254037: 1254037
49 CACNA1H NM_021098.2(CACNA1H): c.2030C> T (p.Ser677Leu) single nucleotide variant Benign rs181892888 GRCh38 Chromosome 16, 1204037: 1204037
50 CACNA1H NM_021098.2(CACNA1H): c.2239C> T (p.Arg747Cys) single nucleotide variant Uncertain significance rs369566757 GRCh38 Chromosome 16, 1204246: 1204246

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

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