Cardiomyopathy, dilated, 1L

General Information (adopted from Orphanet):

Synonyms, Signs: CMD1L
Number of Symptoms 7
OrphanetNr:
OMIM Id: 606685
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset: Childhood
Adolescent
Adult
10974018 [IBIS]

Disease classification (adopted from Orphanet):

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

Comment:

Cardiomyopathy, dilated, 1L is caused by mutations in SGCD (PMID:10974018).

Symptom Information: Sort by abundance 

1
(HPO:0003115) Abnormal EKG 10974018 IBIS 44 / 7739
2
(HPO:0003236) Elevated serum creatine phosphokinase 10974018 IBIS 214 / 7739
3
(HPO:0012666) Severely reduced ejection fraction 10974018 IBIS 9 / 7739
4
(HPO:0001645) Sudden cardiac death 10974018 IBIS 84 / 7739
5
(HPO:0001635) Congestive heart failure 10974018 IBIS 232 / 7739
6
(HPO:0006673) Reduced systolic function 10974018 IBIS 11 / 7739
7
(HPO:0001644) Dilated cardiomyopathy 10974018 IBIS 141 / 7739

Associated genes:

SGCD;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Dilated cardiomyopathy, a disorder characterized by cardiac dilation and reduced systolic function, represents an outcome of a heterogeneous group of inherited and acquired disorders. For background and phenotypic information on dilated cardiomyopathy, see CMD1A (115200).
Molecular genetics OMIM Cardiomyopathy in the hamster is a model of human hereditary cardiomyopathy and is divided into hypertrophic cardiomyopathy (HCM; BIO 14.6 strain) and dilated cardiomyopathy (DCM; TO-2 strain) inbred sublines, both of which descended from the same ancestor and ...