Cardiomyopathy, familial hypertrophic, 17

General Information (adopted from Orphanet):

Synonyms, Signs: CMH17
Number of Symptoms 14
OrphanetNr:
OMIM Id: 613873
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 7 cases - PMID: 17509612, 17476457 [IBIS]
Inheritance:
Age of onset: Adolescent
Adult
- PMID: 17476457 [IBIS]

Disease classification (adopted from Orphanet):

Parent Diseases: Familial isolated hypertrophic cardiomyopathy
 -Rare cardiac disease
 -Rare genetic disease

Comment:

Cardiomyopathy, familial hypertrophic, 17 is caused by JPH2 (PMID: 17509612).

Symptom Information: Sort by abundance 

1
(HPO:0003115) Abnormal EKG 17476457 IBIS 44 / 7739
2
(HPO:0001639) Hypertrophic cardiomyopathy 17476457 IBIS 137 / 7739
3
(HPO:0001962) Palpitations 17509612 IBIS 62 / 7739
4
(HPO:0001712) Left ventricular hypertrophy 17476457 IBIS 76 / 7739
5
(HPO:0005144) Left ventricular septal hypertrophy 17476457 IBIS 5 / 7739
6
(HPO:0011103) Abnormality of the left ventricular outflow tract 17476457 IBIS 12 / 7739
7
(HPO:0003116) Abnormal echocardiogram 17476457 IBIS 33 / 7739
8
(HPO:0004756) Ventricular tachycardia 17476457 IBIS 55 / 7739
9
(HPO:0002094) Dyspnea 17509612 IBIS 132 / 7739
10
(OMIM) Disarray and myocardial fibrosis on histologic analysis of myocardial biopsy 17476457 IBIS 1 / 7739
11
(MedDRA:10065930) Left ventricle outflow tract obstruction 17476457 IBIS 3 / 7739
12
(MedDRA:10051177) Electrocardiogram Q wave abnormal 17476457 IBIS 6 / 7739
13
(OMIM) Myocyte hypertrophy 17476457 IBIS 10 / 7739
14
(MedDRA:10052333) Electrocardiogram ST-T segment abnormal 17476457 IBIS 5 / 7739

Associated genes:

JPH2;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Matsushita et al. (2007) studied 4 Japanese probands with hypertrophic cardiomyopathy (CMH). The first proband was diagnosed at 14 years of age and had anterolateral hypertrophy of the free left ventricular wall. His mother, who was diagnosed at ...
Molecular genetics OMIM In 223 unrelated patients with hypertrophic cardiomyopathy (CMH), who were negative for mutation in 8 myofilament-associated genes and 5 Z disc-associated genes, Landstrom et al. (2007) analyzed the candidate gene JPH2 and identified heterozygosity for 3 different missense ...