Cardiomyopathy, dilated, 1X

General Information (adopted from Orphanet):

Synonyms, Signs: CMD1X
Cardiomyopathy, dilated, with mild or no proximal muscle weakness
Number of Symptoms 9
OrphanetNr:
OMIM Id: 611615
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
Monogenic
17036286 [IBIS]
Age of onset: All ages
17036286 [IBIS]

Disease classification (adopted from Orphanet):

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

Comment:

Cardiomyopathy, dilated, 1X is caused by mutations in FKTN (PMID:17036286).

Symptom Information: Sort by abundance 

1
 (HPO:0008981) Calf muscle hypertrophy 17036286 IBIS 28 / 7739
2
 (HPO:0001635) Congestive heart failure 17036286 IBIS 232 / 7739
3
 (HPO:0012664) Reduced ejection fraction 17036286 IBIS 32 / 7739
4
 (HPO:0001644) Dilated cardiomyopathy 17036286 IBIS 141 / 7739
5
 (HPO:0003236) Elevated serum creatine phosphokinase 17036286 IBIS 214 / 7739
6
 (HPO:0002094) Dyspnea 17036286 IBIS 132 / 7739
7
 (HPO:0003701) Proximal muscle weakness 17036286 IBIS 105 / 7739
8
 (MedDRA:10062049) Lymphocytic infiltration 17036286 IBIS 9 / 7739
9
 (MedDRA:10016642) Fibrosis 17036286 IBIS 9 / 7739

Associated genes:

FKTN;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference
FKTN rs119463993 pathogenic RCV000003364.3
FKTN rs119463994 pathogenic RCV000003365.3

Additional Information:

Clinical Description OMIM Murakami et al. (2006) described 6 Japanese patients from 4 families with dilated cardiomyopathy and mild or no limb-girdle muscle involvement, normal intelligence, and no history of seizures. One patient died at age 12 years from rapidly progressive ...
Molecular genetics OMIM Murakami et al. (2006) analyzed the FKTN gene in 6 Japanese patients with CMD and mild or no limb-girdle muscle involvement and identified compound heterozygosity in all for a 3-kb retrotransposal insertion (607440.0001) and another missense mutation (607440.0010 ...