Cardiomyopathy, hypertrophic, 25

General Information (adopted from Orphanet):

Synonyms, Signs: CMH25
Number of Symptoms 10
OrphanetNr:
OMIM Id: 607487
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
Monogenic
15582318 [IBIS]
Age of onset:

Disease classification (adopted from Orphanet):

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

Comment:

Cardiomyopathy, hypertrophic, 25 is caused by mutations in TCAP (PMID:15582318).

Symptom Information: Sort by abundance 

1
 (HPO:0001681) Angina pectoris 16352453 IBIS 22 / 7739
2
 (HPO:0002094) Dyspnea 16352453 IBIS 132 / 7739
3
 (HPO:0001716) Wolff-Parkinson-White syndrome 15582318 IBIS 21 / 7739
4
 (HPO:0001712) Left ventricular hypertrophy 15582318 IBIS 76 / 7739
5
 (HPO:0001639) Hypertrophic cardiomyopathy 15582318 IBIS 137 / 7739
6
 (HPO:0003115) Abnormal EKG 15582318 IBIS 44 / 7739
7
 (HPO:0001629) Ventricular septal defect 17097056 IBIS 316 / 7739
8
 (MedDRA:10051177) Electrocardiogram Q wave abnormal 15582318 IBIS 6 / 7739
9
 (OMIM) Interstitial fibrosis 16352453 IBIS 24 / 7739
10
 (HPO:0001699) Sudden death 16352453 IBIS 34 / 7739

Associated genes:

TCAP;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Dilated cardiomyopathy and associated heart failure are major causes of human morbidity and mortality. For background and phenotypic information on dilated cardiomyopathy, see CMD1A (115200).
Molecular genetics OMIM In a patient with CMD1N, Knoll et al. (2002) identified a mutation (R87Q; 604488.0003) in the TCAP gene.