CMH17
MCID: CRD238
MIFTS: 20

Cardiomyopathy, Familial Hypertrophic, 17 (CMH17)

Categories: Blood diseases, Cardiovascular diseases, Genetic diseases, Rare diseases, Respiratory 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 dyspnea and cardiomyopathy

Disease Ontology : 12 A familial 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
Respiratory Lung:
dyspnea

Cardiovascular Heart:
left ventricular hypertrophy
palpitations
myocyte hypertrophy
ventricular tachycardia (in some patients)
interventricular septal hypertrophy (in some patients)
more

Clinical features from OMIM:

613873

Human phenotypes related to Cardiomyopathy, Familial Hypertrophic, 17:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 dyspnea 32 HP:0002094
2 cardiomyopathy 32 HP:0001638
3 left ventricular hypertrophy 32 HP:0001712
4 ventricular tachycardia 32 occasional (7.5%) HP:0004756
5 palpitations 32 HP:0001962
6 myocardial fibrosis 32 HP:0001685

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 47)
# 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.1513G> A (p.Gly505Ser) single nucleotide variant Benign rs140740776 GRCh37 Chromosome 20, 42744802: 42744802
7 JPH2 NM_020433.4(JPH2): c.1513G> A (p.Gly505Ser) single nucleotide variant Benign rs140740776 GRCh38 Chromosome 20, 44116162: 44116162
8 JPH2 NM_020433.4(JPH2): c.624C> G (p.Ala208=) single nucleotide variant Conflicting interpretations of pathogenicity rs398124358 GRCh37 Chromosome 20, 42788803: 42788803
9 JPH2 NM_020433.4(JPH2): c.624C> G (p.Ala208=) single nucleotide variant Conflicting interpretations of pathogenicity rs398124358 GRCh38 Chromosome 20, 44160163: 44160163
10 JPH2 NM_020433.4(JPH2): c.156C> T (p.Tyr52=) single nucleotide variant Benign rs1883790 GRCh37 Chromosome 20, 42815190: 42815190
11 JPH2 NM_020433.4(JPH2): c.156C> T (p.Tyr52=) single nucleotide variant Benign rs1883790 GRCh38 Chromosome 20, 44186550: 44186550
12 JPH2 NM_020433.4(JPH2): c.380-9C> G single nucleotide variant Benign rs111987307 GRCh37 Chromosome 20, 42789056: 42789056
13 JPH2 NM_020433.4(JPH2): c.380-9C> G single nucleotide variant Benign rs111987307 GRCh38 Chromosome 20, 44160416: 44160416
14 JPH2 NM_020433.4(JPH2): c.380-6C> T single nucleotide variant Benign rs201197277 GRCh37 Chromosome 20, 42789053: 42789053
15 JPH2 NM_020433.4(JPH2): c.380-6C> T single nucleotide variant Benign rs201197277 GRCh38 Chromosome 20, 44160413: 44160413
16 JPH2 NM_020433.4(JPH2): c.1179C> T (p.His393=) single nucleotide variant Benign rs7268512 GRCh37 Chromosome 20, 42747254: 42747254
17 JPH2 NM_020433.4(JPH2): c.1179C> T (p.His393=) single nucleotide variant Benign rs7268512 GRCh38 Chromosome 20, 44118614: 44118614
18 JPH2 NM_020433.4(JPH2): c.1186G> A (p.Ala396Thr) single nucleotide variant Benign rs3810510 GRCh37 Chromosome 20, 42747247: 42747247
19 JPH2 NM_020433.4(JPH2): c.1186G> A (p.Ala396Thr) single nucleotide variant Benign rs3810510 GRCh38 Chromosome 20, 44118607: 44118607
20 JPH2 NM_020433.4(JPH2): c.1289-7C> T single nucleotide variant Benign rs116986535 GRCh37 Chromosome 20, 42745033: 42745033
21 JPH2 NM_020433.4(JPH2): c.1289-7C> T single nucleotide variant Benign rs116986535 GRCh38 Chromosome 20, 44116393: 44116393
22 JPH2 NM_020433.4(JPH2): c.1728C> G (p.Pro576=) single nucleotide variant Benign rs74352869 GRCh37 Chromosome 20, 42744587: 42744587
23 JPH2 NM_020433.4(JPH2): c.1728C> G (p.Pro576=) single nucleotide variant Benign rs74352869 GRCh38 Chromosome 20, 44115947: 44115947
24 JPH2 NM_020433.4(JPH2): c.1971G> A (p.Glu657=) single nucleotide variant Benign/Likely benign rs142333841 GRCh37 Chromosome 20, 42744344: 42744344
25 JPH2 NM_020433.4(JPH2): c.1971G> A (p.Glu657=) single nucleotide variant Benign/Likely benign rs142333841 GRCh38 Chromosome 20, 44115704: 44115704
26 JPH2 NM_020433.4(JPH2): c.2073T> C (p.Phe691=) single nucleotide variant Benign rs6093935 GRCh37 Chromosome 20, 42743454: 42743454
27 JPH2 NM_020433.4(JPH2): c.2073T> C (p.Phe691=) single nucleotide variant Benign rs6093935 GRCh38 Chromosome 20, 44114814: 44114814
28 JPH2 NM_020433.4(JPH2): c.1380G> A (p.Ala460=) single nucleotide variant Conflicting interpretations of pathogenicity rs531877510 GRCh37 Chromosome 20, 42744935: 42744935
29 JPH2 NM_020433.4(JPH2): c.1380G> A (p.Ala460=) single nucleotide variant Conflicting interpretations of pathogenicity rs531877510 GRCh38 Chromosome 20, 44116295: 44116295
30 JPH2 NM_020433.4(JPH2): c.661T> C (p.Phe221Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs558770240 GRCh38 Chromosome 20, 44160126: 44160126
31 JPH2 NM_020433.4(JPH2): c.661T> C (p.Phe221Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs558770240 GRCh37 Chromosome 20, 42788766: 42788766
32 JPH2 NM_020433.4(JPH2): c.128A> G (p.Asn43Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs138992849 GRCh37 Chromosome 20, 42815218: 42815218
33 JPH2 NM_020433.4(JPH2): c.128A> G (p.Asn43Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs138992849 GRCh38 Chromosome 20, 44186578: 44186578
34 JPH2 NM_020433.4(JPH2): c.562C> T (p.Pro188Ser) single nucleotide variant Benign/Likely benign rs574746149 GRCh37 Chromosome 20, 42788865: 42788865
35 JPH2 NM_020433.4(JPH2): c.562C> T (p.Pro188Ser) single nucleotide variant Benign/Likely benign rs574746149 GRCh38 Chromosome 20, 44160225: 44160225
36 JPH2 NM_020433.4(JPH2): c.1794C> A (p.Ser598=) single nucleotide variant Benign rs369883442 GRCh38 Chromosome 20, 44115881: 44115881
37 JPH2 NM_020433.4(JPH2): c.1794C> A (p.Ser598=) single nucleotide variant Benign rs369883442 GRCh37 Chromosome 20, 42744521: 42744521
38 JPH2 NM_020433.4(JPH2): c.648G> A (p.Lys216=) single nucleotide variant Conflicting interpretations of pathogenicity rs796219248 GRCh37 Chromosome 20, 42788779: 42788779
39 JPH2 NM_020433.4(JPH2): c.648G> A (p.Lys216=) single nucleotide variant Conflicting interpretations of pathogenicity rs796219248 GRCh38 Chromosome 20, 44160139: 44160139
40 JPH2 NM_020433.4(JPH2): c.1213G> A (p.Ala405Thr) single nucleotide variant Uncertain significance rs557878787 GRCh37 Chromosome 20, 42747220: 42747220
41 JPH2 NM_020433.4(JPH2): c.1213G> A (p.Ala405Thr) single nucleotide variant Uncertain significance rs557878787 GRCh38 Chromosome 20, 44118580: 44118580
42 JPH2 NM_020433.4(JPH2): c.1169+10C> T single nucleotide variant Likely benign rs372219237 GRCh38 Chromosome 20, 44159608: 44159608
43 JPH2 NM_020433.4(JPH2): c.1169+10C> T single nucleotide variant Likely benign rs372219237 GRCh37 Chromosome 20, 42788248: 42788248
44 JPH2 NM_020433.4(JPH2): c.810C> A (p.Ala270=) single nucleotide variant Likely benign rs779680763 GRCh37 Chromosome 20, 42788617: 42788617
45 JPH2 NM_020433.4(JPH2): c.810C> A (p.Ala270=) single nucleotide variant Likely benign rs779680763 GRCh38 Chromosome 20, 44159977: 44159977
46 JPH2 NM_020433.4(JPH2): c.1497C> A (p.Pro499=) single nucleotide variant Likely benign GRCh37 Chromosome 20, 42744818: 42744818
47 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

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Pathways for Cardiomyopathy, Familial Hypertrophic, 17

GO Terms for Cardiomyopathy, Familial Hypertrophic, 17

Sources for Cardiomyopathy, Familial Hypertrophic, 17

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