Cardiomyopathy, familial hypertrophic, 7

General Information (adopted from Orphanet):

Synonyms, Signs: CMH7
Number of Symptoms 20
OrphanetNr:
OMIM Id: 613690
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset: Childhood
Adolescent
Adult
21533915 [IBIS]

Disease classification (adopted from Orphanet):

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

Comment:

Cardiomyopathy, familial hypertrophic, 7 is caused by mutations in TNNI3 (PMID:21533915)

Symptom Information: Sort by abundance 

1
(HPO:0100749) Chest pain 16267253 IBIS 92 / 7739
2
(HPO:0005110) Atrial fibrillation 16267253 IBIS 71 / 7739
3
(HPO:0003115) Abnormal EKG 16267253 IBIS 44 / 7739
4
(HPO:0001635) Congestive heart failure 15607392 IBIS 232 / 7739
5
(HPO:0004309) Ventricular preexcitation 9241277 IBIS 6 / 7739
6
(HPO:0001716) Wolff-Parkinson-White syndrome 9241277 IBIS 21 / 7739
7
(HPO:0001670) Asymmetric septal hypertrophy 20641121 IBIS 19 / 7739
8
(HPO:0011103) Abnormality of the left ventricular outflow tract 12860912 IBIS 12 / 7739
9
(HPO:0001645) Sudden cardiac death 16267253 IBIS 84 / 7739
10
(HPO:0005162) Left ventricular failure 15607392 IBIS 18 / 7739
11
(HPO:0001639) Hypertrophic cardiomyopathy 21533915 IBIS 137 / 7739
12
(HPO:0003116) Abnormal echocardiogram 10931807 IBIS 33 / 7739
13
(HPO:0001723) Restrictive cardiomyopathy 15607392 IBIS 22 / 7739
14
(HPO:0001714) Ventricular hypertrophy 9241277 IBIS 20 / 7739
15
(HPO:0001712) Left ventricular hypertrophy 16267253 IBIS 76 / 7739
16
(HPO:0002094) Dyspnea 16267253 IBIS 132 / 7739
17
(OMIM) Apical hypertrophy (in some patients) 16267253 IBIS 3 / 7739
18
(MedDRA:10071436) Systolic dysfunction 10931807 IBIS 13 / 7739
19
(OMIM) Interstitial fibrosis 15607392 IBIS 24 / 7739
20
(MedDRA:10052464) Electrocardiogram repolarisation abnormality 16267253 IBIS 4 / 7739

Associated genes:

TNNI3;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Kimura et al. (1997) identified 6 probands with hypertrophic cardiomyopathy and mutations in the TNNI3 gene (CMH7). Three of these probands had ventricular hypertrophy characteristic of CMH; 3 others had apical hypertrophy (so-called Japanese-type CMH). The mutation-carrying son ...
Molecular genetics OMIM Kimura et al. (1997) analyzed the TNNI3 gene in 184 unrelated patients with CMH and identified 6 heterozygous mutations in 6 probands, respectively (see, e.g., 191044.0001 and 191044.0002). Although apical CMH had been associated particularly with CMH4 (115197), ...