Cardiomyopathy, familial hypertrophic, 12

General Information (adopted from Orphanet):

Synonyms, Signs: CMH12
Number of Symptoms 16
OrphanetNr:
OMIM Id: 612124
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset: Adult
12642359 [IBIS]

Disease classification (adopted from Orphanet):

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

Comment:

Cardiomyopathy, familial hypertrophic, 12 is caused by mutations in CSRP3 (PMID:12642359).

Symptom Information: Sort by abundance 

1
(HPO:0011713) Left bundle branch block 12642359 IBIS 30 / 7739
2
(HPO:0005135) EKG: T-wave abnormalities 12642359 IBIS 19 / 7739
3
(HPO:0001670) Asymmetric septal hypertrophy 12642359 IBIS 19 / 7739
4
(HPO:0001639) Hypertrophic cardiomyopathy 12642359 IBIS 137 / 7739
5
(HPO:0010872) EKG: T-wave inversion 12642359 IBIS 19 / 7739
6
(HPO:0004756) Ventricular tachycardia 12642359 IBIS 55 / 7739
7
(HPO:0003116) Abnormal echocardiogram 12642359 IBIS 33 / 7739
8
(HPO:0001637) Abnormality of the myocardium 12642359 IBIS 76 / 7739
9
(HPO:0001962) Palpitations 12642359 IBIS 62 / 7739
10
(HPO:0011103) Abnormality of the left ventricular outflow tract 12642359 IBIS 12 / 7739
11
(HPO:0004757) Paroxysmal atrial fibrillation 12642359 IBIS 16 / 7739
12
(HPO:0001712) Left ventricular hypertrophy 12642359 IBIS 76 / 7739
13
(HPO:0001645) Sudden cardiac death 12642359 IBIS 84 / 7739
14
(HPO:0002094) Dyspnea 12642359 IBIS 132 / 7739
15
(OMIM) Hypertrophy, concentric (variable) 12642359 IBIS 1 / 7739
16
(MedDRA:10052464) Electrocardiogram repolarisation abnormality 12642359 IBIS 4 / 7739

Associated genes:

CSRP3;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Geier et al. (2008) reported the clinical characteristics of affected individuals from 5 CMH families with mutations in the CSRP3 gene, 3 of which had been previously studied by Geier et al. (2003). Most affected persons had pronounced ...
Molecular genetics OMIM Geier et al. (2003) analyzed the CSRP3 gene in 200 patients with hypertrophic cardiomyopathy (CMH), 400 patients with dilated cardiomyopathy (CMD), and 500 controls, and identified 3 different mutations (600824.0002-600824.0004) that cosegregated with CMH in 3 unrelated families. ...