CMH17
MCID: CRD238
MIFTS: 25

Cardiomyopathy, Familial Hypertrophic, 17 (CMH17)

Categories: Cardiovascular diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Cardiomyopathy, Familial Hypertrophic, 17

MalaCards integrated aliases for Cardiomyopathy, Familial Hypertrophic, 17:

Name: Cardiomyopathy, Familial Hypertrophic, 17 57 70
Cmh17 57 12 72
Cardiomyopathy, Familial Hypertrophic 17 72 13
Familial Hypertrophic Cardiomyopathy 17 29 6
Hypertrophic Cardiomyopathy 17 12 15
Cardiomyopathy, Hypertrophic, Familial, Type 17 39
Cardiomyopathy Familial Hypertrophic 17 12
Cardiomyopathy, Hypertrophic, 17 57

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant


HPO:

31
cardiomyopathy, familial hypertrophic, 17:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110323
OMIM® 57 613873
OMIM Phenotypic Series 57 PS192600
MeSH 44 D024741
MedGen 41 C3151264
UMLS 70 C3151264

Summaries for Cardiomyopathy, Familial Hypertrophic, 17

UniProtKB/Swiss-Prot : 72 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, also known as cmh17, is related to cardiomyopathy, familial hypertrophic, 1, and has symptoms including dyspnea An important gene associated with Cardiomyopathy, Familial Hypertrophic, 17 is JPH2 (Junctophilin 2). Related phenotypes are ventricular tachycardia and left ventricular hypertrophy

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

More information from OMIM: 613873 PS192600

Related Diseases for Cardiomyopathy, Familial Hypertrophic, 17

Symptoms & Phenotypes for Cardiomyopathy, Familial Hypertrophic, 17

Human phenotypes related to Cardiomyopathy, Familial Hypertrophic, 17:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 ventricular tachycardia 31 occasional (7.5%) HP:0004756
2 left ventricular hypertrophy 31 HP:0001712
3 dyspnea 31 HP:0002094
4 cardiomyopathy 31 HP:0001638
5 palpitations 31 HP:0001962
6 myocardial fibrosis 31 HP:0001685

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Cardiovascular Heart:
left ventricular hypertrophy
palpitations
myocyte hypertrophy
ventricular tachycardia (in some patients)
interventricular septal hypertrophy (in some patients)
more
Respiratory Lung:
dyspnea

Clinical features from OMIM®:

613873 (Updated 20-May-2021)

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

Publications for Cardiomyopathy, Familial Hypertrophic, 17

Articles related to Cardiomyopathy, Familial Hypertrophic, 17:

# Title Authors PMID Year
1
Mutations in JPH2-encoded junctophilin-2 associated with hypertrophic cardiomyopathy in humans. 57 6
17509612 2007
2
Mutation of junctophilin type 2 associated with hypertrophic cardiomyopathy. 57
17476457 2007
3
The coagulation system is activated in idiopathic cardiomyopathy. 61
7539015 1995
4
[Hypertrophic cardiomyopathy associated with Noonan's syndrome and membranous aortic subvalvular stenosis associated with Turner's syndrome. Report of 2 clinical cases]. 61
3692082 1987

Variations for Cardiomyopathy, Familial Hypertrophic, 17

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

6 (show all 31)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 JPH2 NM_020433.4(JPH2):c.301A>C (p.Ser101Arg) SNV Pathogenic 30455 rs1600482909 GRCh37: 20:42815045-42815045
GRCh38: 20:44186405-44186405
2 JPH2 NM_020433.4(JPH2):c.494C>T (p.Ser165Phe) SNV Pathogenic 30457 rs387906898 GRCh37: 20:42788933-42788933
GRCh38: 20:44160293-44160293
3 JPH2 NM_020433.4(JPH2):c.421T>C (p.Tyr141His) SNV Pathogenic 30456 rs387906897 GRCh37: 20:42789006-42789006
GRCh38: 20:44160366-44160366
4 JPH2 NM_020433.5(JPH2):c.191G>A (p.Trp64Ter) SNV Likely pathogenic 829986 rs754529157 GRCh37: 20:42815155-42815155
GRCh38: 20:44186515-44186515
5 JPH2 NM_020433.4(JPH2):c.1078A>C (p.Asn360His) SNV Uncertain significance 419464 rs747676827 GRCh37: 20:42788349-42788349
GRCh38: 20:44159709-44159709
6 JPH2 NM_020433.4(JPH2):c.226A>G (p.Thr76Ala) SNV Uncertain significance 451220 rs764474492 GRCh37: 20:42815120-42815120
GRCh38: 20:44186480-44186480
7 JPH2 NM_020433.4(JPH2):c.838G>A (p.Glu280Lys) SNV Uncertain significance 429669 rs748282723 GRCh37: 20:42788589-42788589
GRCh38: 20:44159949-44159949
8 JPH2 NM_020433.5(JPH2):c.916A>G (p.Ser306Gly) SNV Uncertain significance 1032840 GRCh37: 20:42788511-42788511
GRCh38: 20:44159871-44159871
9 JPH2 NM_020433.5(JPH2):c.661T>C (p.Phe221Leu) SNV Uncertain significance 201798 rs558770240 GRCh37: 20:42788766-42788766
GRCh38: 20:44160126-44160126
10 JPH2 NM_020433.4(JPH2):c.1213G>A (p.Ala405Thr) SNV Uncertain significance 454467 rs557878787 GRCh37: 20:42747220-42747220
GRCh38: 20:44118580-44118580
11 JPH2 NM_020433.4(JPH2):c.128A>G (p.Asn43Ser) SNV Uncertain significance 201792 rs138992849 GRCh37: 20:42815218-42815218
GRCh38: 20:44186578-44186578
12 JPH2 NM_020433.5(JPH2):c.1204G>A (p.Glu402Lys) SNV Uncertain significance 188245 rs147407445 GRCh37: 20:42747229-42747229
GRCh38: 20:44118589-44118589
13 JPH2 NM_020433.5(JPH2):c.458T>C (p.Val153Ala) SNV Uncertain significance 201795 rs776045429 GRCh37: 20:42788969-42788969
GRCh38: 20:44160329-44160329
14 JPH2 NM_020433.4(JPH2):c.562C>T (p.Pro188Ser) SNV Likely benign 220441 rs574746149 GRCh37: 20:42788865-42788865
GRCh38: 20:44160225-44160225
15 JPH2 NM_020433.4(JPH2):c.648G>A (p.Lys216=) SNV Likely benign 264069 rs796219248 GRCh37: 20:42788779-42788779
GRCh38: 20:44160139-44160139
16 JPH2 NM_020433.5(JPH2):c.1169+10C>T SNV Likely benign 504820 rs372219237 GRCh37: 20:42788248-42788248
GRCh38: 20:44159608-44159608
17 JPH2 NM_020433.4(JPH2):c.1380G>A (p.Ala460=) SNV Likely benign 197322 rs531877510 GRCh37: 20:42744935-42744935
GRCh38: 20:44116295-44116295
18 JPH2 NM_020433.5(JPH2):c.1794C>A (p.Ser598=) SNV Likely benign 264143 rs369883442 GRCh37: 20:42744521-42744521
GRCh38: 20:44115881-44115881
19 JPH2 NM_020433.4(JPH2):c.810C>A (p.Ala270=) SNV Likely benign 518319 rs779680763 GRCh37: 20:42788617-42788617
GRCh38: 20:44159977-44159977
20 JPH2 NM_020433.4(JPH2):c.1497C>A (p.Pro499=) SNV Likely benign 522274 rs1441785257 GRCh37: 20:42744818-42744818
GRCh38: 20:44116178-44116178
21 JPH2 NM_020433.5(JPH2):c.1971G>A (p.Glu657=) SNV Benign/Likely benign 137610 rs142333841 GRCh37: 20:42744344-42744344
GRCh38: 20:44115704-44115704
22 JPH2 NM_020433.5(JPH2):c.624C>G (p.Ala208=) SNV Benign/Likely benign 95954 rs398124358 GRCh37: 20:42788803-42788803
GRCh38: 20:44160163-44160163
23 JPH2 NM_020433.5(JPH2):c.156C>T (p.Tyr52=) SNV Benign 137602 rs1883790 GRCh37: 20:42815190-42815190
GRCh38: 20:44186550-44186550
24 JPH2 NM_020433.5(JPH2):c.380-6C>T SNV Benign 137604 rs201197277 GRCh37: 20:42789053-42789053
GRCh38: 20:44160413-44160413
25 JPH2 NM_020433.5(JPH2):c.1728C>G (p.Pro576=) SNV Benign 137609 rs74352869 GRCh37: 20:42744587-42744587
GRCh38: 20:44115947-44115947
26 JPH2 NM_020433.5(JPH2):c.1289-7C>T SNV Benign 137608 rs116986535 GRCh37: 20:42745033-42745033
GRCh38: 20:44116393-44116393
27 JPH2 NM_020433.5(JPH2):c.1186G>A (p.Ala396Thr) SNV Benign 137607 rs3810510 GRCh37: 20:42747247-42747247
GRCh38: 20:44118607-44118607
28 JPH2 NM_020433.5(JPH2):c.1179C>T (p.His393=) SNV Benign 137606 rs7268512 GRCh37: 20:42747254-42747254
GRCh38: 20:44118614-44118614
29 JPH2 NM_020433.5(JPH2):c.2073T>C (p.Phe691=) SNV Benign 137611 rs6093935 GRCh37: 20:42743454-42743454
GRCh38: 20:44114814-44114814
30 JPH2 NM_020433.5(JPH2):c.380-9C>G SNV Benign 137603 rs111987307 GRCh37: 20:42789056-42789056
GRCh38: 20:44160416-44160416
31 JPH2 NM_020433.5(JPH2):c.1513G>A (p.Gly505Ser) SNV Benign 30458 rs140740776 GRCh37: 20:42744802-42744802
GRCh38: 20:44116162-44116162

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

72
# 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
4 JPH2 p.Thr161Lys VAR_081288 rs587782951

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

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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