Cardiomyopathy, familial hypertrophic, 9

General Information (adopted from Orphanet):

Synonyms, Signs: CMH9
Number of Symptoms 6
OrphanetNr:
OMIM Id: 613765
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
Monogenic
- PMID: 10462489 [IBIS]
Age of onset: Adult
- PMID: 10462489 [IBIS]

Disease classification (adopted from Orphanet):

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

Comment:

Cardiomyopathy, familial hypertrophic, 9 (CMH9) is caused by mutations in TTN (PMID:10462489, PMID:22335739, PMID:23396983). For symptom annotation please refer to familial isolated hypertrophic cardiomyopathy (Phenodis:12207).

Symptom Information: Sort by abundance 

1
(HPO:0003116) Abnormal echocardiogram 23396983 IBIS 33 / 7739
2
(HPO:0003115) Abnormal EKG 23396983 IBIS 44 / 7739
3
(HPO:0001645) Sudden cardiac death 23396983 IBIS 84 / 7739
4
(HPO:0001712) Left ventricular hypertrophy 23396983 IBIS 76 / 7739
5
(HPO:0001639) Hypertrophic cardiomyopathy 22335739 IBIS 137 / 7739
6
(HPO:0001644) Dilated cardiomyopathy 22335739 IBIS 141 / 7739

Associated genes:

TTN;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Molecular genetics OMIM In 1 of 82 patients with hypertrophic cardiomyopathy who had no mutation in known disease genes, Satoh et al. (1999) identified a mutation in the TTN gene (188840.0001) that was not found in more than 500 normal chromosomes ...