MCID: CRD238
MIFTS: 20

Cardiomyopathy, Familial Hypertrophic, 17

Categories: Genetic diseases, Cardiovascular diseases, Rare diseases

Aliases & Classifications for Cardiomyopathy, Familial Hypertrophic, 17

MalaCards integrated aliases for Cardiomyopathy, Familial Hypertrophic, 17:

Name: Cardiomyopathy, Familial Hypertrophic, 17 57 73
Cmh17 57 12 75
Cardiomyopathy, Familial Hypertrophic 17 75 13
Familial Hypertrophic Cardiomyopathy 17 29 6
Cardiomyopathy, Hypertrophic, Familial, Type 17 40
Cardiomyopathy Familial Hypertrophic 17 12
Cardiomyopathy, Hypertrophic, 17 57
Hypertrophic Cardiomyopathy 17 12

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
cardiomyopathy, familial hypertrophic, 17:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 613873
Disease Ontology 12 DOID:0110323
MedGen 42 C3151264
MeSH 44 D024741
UMLS 73 C3151264

Summaries for Cardiomyopathy, Familial Hypertrophic, 17

UniProtKB/Swiss-Prot : 75 Cardiomyopathy, familial hypertrophic 17: A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death.

MalaCards based summary : Cardiomyopathy, Familial Hypertrophic, 17, is also known as cmh17, and has symptoms including dyspnea An important gene associated with Cardiomyopathy, Familial Hypertrophic, 17 is JPH2 (Junctophilin 2). Affiliated tissues include heart, and related phenotypes are cardiomyopathy and left ventricular hypertrophy

Disease Ontology : 12 A hypertrophic cardiomyopathy that has material basis in heterozygous mutation in the junctophilin gene (JPH2) on chromosome 20q12.

Description from OMIM: 613873

Symptoms & Phenotypes for Cardiomyopathy, Familial Hypertrophic, 17

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Heart:
left ventricular hypertrophy
palpitations
interventricular septal hypertrophy (in some patients)
left ventricular outflow obstruction (in some patients)
ventricular tachycardia (in some patients)
more
Respiratory Lung:
dyspnea


Clinical features from OMIM:

613873

Human phenotypes related to Cardiomyopathy, Familial Hypertrophic, 17:

32
# Description HPO Frequency HPO Source Accession
1 cardiomyopathy 32 HP:0001638
2 left ventricular hypertrophy 32 HP:0001712
3 palpitations 32 HP:0001962
4 dyspnea 32 HP:0002094
5 ventricular tachycardia 32 occasional (7.5%) HP:0004756

UMLS symptoms related to Cardiomyopathy, Familial Hypertrophic, 17:


dyspnea

Drugs & Therapeutics for Cardiomyopathy, Familial Hypertrophic, 17

Search Clinical Trials , NIH Clinical Center for Cardiomyopathy, Familial Hypertrophic, 17

Genetic Tests for Cardiomyopathy, Familial Hypertrophic, 17

Genetic tests related to Cardiomyopathy, Familial Hypertrophic, 17:

# Genetic test Affiliating Genes
1 Familial Hypertrophic Cardiomyopathy 17 29 JPH2

Anatomical Context for Cardiomyopathy, Familial Hypertrophic, 17

MalaCards organs/tissues related to Cardiomyopathy, Familial Hypertrophic, 17:

41
Heart

Publications for Cardiomyopathy, Familial Hypertrophic, 17

Variations for Cardiomyopathy, Familial Hypertrophic, 17

UniProtKB/Swiss-Prot genetic disease variations for Cardiomyopathy, Familial Hypertrophic, 17:

75
# Symbol AA change Variation ID SNP ID
1 JPH2 p.Ser101Arg VAR_065471
2 JPH2 p.Tyr141His VAR_065472 rs387906897
3 JPH2 p.Ser165Phe VAR_065473 rs387906898

ClinVar genetic disease variations for Cardiomyopathy, Familial Hypertrophic, 17:

6
(show all 25)
# Gene Variation Type Significance SNP ID Assembly Location
1 JPH2 JPH2, SER101ARG undetermined variant Pathogenic
2 JPH2 NM_020433.4(JPH2): c.421T> C (p.Tyr141His) single nucleotide variant Pathogenic rs387906897 GRCh37 Chromosome 20, 42789006: 42789006
3 JPH2 NM_020433.4(JPH2): c.421T> C (p.Tyr141His) single nucleotide variant Pathogenic rs387906897 GRCh38 Chromosome 20, 44160366: 44160366
4 JPH2 NM_020433.4(JPH2): c.494C> T (p.Ser165Phe) single nucleotide variant Pathogenic rs387906898 GRCh37 Chromosome 20, 42788933: 42788933
5 JPH2 NM_020433.4(JPH2): c.494C> T (p.Ser165Phe) single nucleotide variant Pathogenic rs387906898 GRCh38 Chromosome 20, 44160293: 44160293
6 JPH2 NM_020433.4(JPH2): c.1380G> A (p.Ala460=) single nucleotide variant Conflicting interpretations of pathogenicity rs531877510 GRCh37 Chromosome 20, 42744935: 42744935
7 JPH2 NM_020433.4(JPH2): c.1380G> A (p.Ala460=) single nucleotide variant Conflicting interpretations of pathogenicity rs531877510 GRCh38 Chromosome 20, 44116295: 44116295
8 JPH2 NM_020433.4(JPH2): c.661T> C (p.Phe221Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs558770240 GRCh38 Chromosome 20, 44160126: 44160126
9 JPH2 NM_020433.4(JPH2): c.661T> C (p.Phe221Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs558770240 GRCh37 Chromosome 20, 42788766: 42788766
10 JPH2 NM_020433.4(JPH2): c.128A> G (p.Asn43Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs138992849 GRCh37 Chromosome 20, 42815218: 42815218
11 JPH2 NM_020433.4(JPH2): c.128A> G (p.Asn43Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs138992849 GRCh38 Chromosome 20, 44186578: 44186578
12 JPH2 NM_020433.4(JPH2): c.562C> T (p.Pro188Ser) single nucleotide variant Benign/Likely benign rs574746149 GRCh37 Chromosome 20, 42788865: 42788865
13 JPH2 NM_020433.4(JPH2): c.562C> T (p.Pro188Ser) single nucleotide variant Benign/Likely benign rs574746149 GRCh38 Chromosome 20, 44160225: 44160225
14 JPH2 NM_020433.4(JPH2): c.1794C> A (p.Ser598=) single nucleotide variant Benign rs369883442 GRCh38 Chromosome 20, 44115881: 44115881
15 JPH2 NM_020433.4(JPH2): c.1794C> A (p.Ser598=) single nucleotide variant Benign rs369883442 GRCh37 Chromosome 20, 42744521: 42744521
16 JPH2 NM_020433.4(JPH2): c.648G> A (p.Lys216=) single nucleotide variant Conflicting interpretations of pathogenicity rs796219248 GRCh37 Chromosome 20, 42788779: 42788779
17 JPH2 NM_020433.4(JPH2): c.648G> A (p.Lys216=) single nucleotide variant Conflicting interpretations of pathogenicity rs796219248 GRCh38 Chromosome 20, 44160139: 44160139
18 JPH2 NM_020433.4(JPH2): c.1213G> A (p.Ala405Thr) single nucleotide variant Uncertain significance rs557878787 GRCh38 Chromosome 20, 44118580: 44118580
19 JPH2 NM_020433.4(JPH2): c.1213G> A (p.Ala405Thr) single nucleotide variant Uncertain significance rs557878787 GRCh37 Chromosome 20, 42747220: 42747220
20 JPH2 NM_020433.4(JPH2): c.1169+10C> T single nucleotide variant Likely benign rs372219237 GRCh38 Chromosome 20, 44159608: 44159608
21 JPH2 NM_020433.4(JPH2): c.1169+10C> T single nucleotide variant Likely benign rs372219237 GRCh37 Chromosome 20, 42788248: 42788248
22 JPH2 NM_020433.4(JPH2): c.810C> A (p.Ala270=) single nucleotide variant Likely benign rs779680763 GRCh37 Chromosome 20, 42788617: 42788617
23 JPH2 NM_020433.4(JPH2): c.810C> A (p.Ala270=) single nucleotide variant Likely benign rs779680763 GRCh38 Chromosome 20, 44159977: 44159977
24 JPH2 NM_020433.4(JPH2): c.1497C> A (p.Pro499=) single nucleotide variant Likely benign GRCh37 Chromosome 20, 42744818: 42744818
25 JPH2 NM_020433.4(JPH2): c.1497C> A (p.Pro499=) single nucleotide variant Likely benign GRCh38 Chromosome 20, 44116178: 44116178

Expression for Cardiomyopathy, Familial Hypertrophic, 17

Search GEO for disease gene expression data for Cardiomyopathy, Familial Hypertrophic, 17.

Pathways for Cardiomyopathy, Familial Hypertrophic, 17

GO Terms for Cardiomyopathy, Familial Hypertrophic, 17

Sources for Cardiomyopathy, Familial Hypertrophic, 17

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70 SNOMED-CT via Orphanet
71 TGDB
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74 UMLS via Orphanet
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