Dilated cardiomyopathy with ataxia

General Information (adopted from Orphanet):

Synonyms, Signs: MGA, TYPE V
MGCA5
DCMA
MGA5
DCMA syndrome
Cardiomyopathy, dilated, with ataxia
3-methylglutaconic aciduria type 5
Number of Symptoms 25
OrphanetNr: 66634
OMIM Id: 610198
ICD-10: E71.1
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 30 cases - PMID: 16055927, 22797137 [IBIS]
Inheritance: Autosomal recessive
Monogenic
- PMID: 16055927 [IBIS]
Age of onset: Infancy
Childhood
- PMID: 16055927 [IBIS]

Disease classification (adopted from Orphanet):

Parent Diseases: 3-methylglutaconic aciduria
 -Rare genetic disease
Syndrome associated with dilated cardiomyopathy
 -Rare cardiac disease
 -Rare genetic disease

Comment:

An autosomal recessive condition, dilated cardiomyopathy with ataxia (DCMA) syndrome, has been identified in the Canadian Dariusleut Hutterite population, characterised by early onset dilated cardiomyopathy with conduction defects, non-progressive cerebellar ataxia, testicular dysgenesis, growth failure, and 3-methylglutaconic aciduria (PMID:16055927).

Symptom Information: Sort by abundance 

1
 (HPO:0001270) Motor delay 16055927 IBIS 322 / 7739
2
 (HPO:0003244) Penile hypospadias 16055927 IBIS 4 / 7739
3
 (HPO:0003150) Glutaric aciduria 22797137 IBIS 7 / 7739
4
 (HPO:0000047) Hypospadias 16055927 IBIS 250 / 7739
5
 (HPO:0008734) Decreased testicular size 16055927 IBIS 105 / 7739
6
 (HPO:0003535) 3-Methylglutaconic aciduria 16055927 IBIS 10 / 7739
7
 (HPO:0000028) Cryptorchidism 16055927 IBIS 347 / 7739
8
 (HPO:0003344) 3-Methylglutaric aciduria 16055927 IBIS 6 / 7739
9
 (HPO:0000648) Optic atrophy 16055927 IBIS 238 / 7739
10
 (HPO:0002470) Nonprogressive cerebellar ataxia 16055927 IBIS 4 / 7739
11
 (HPO:0001249) Intellectual disability 16055927 IBIS 1089 / 7739
12
 (HPO:0001414) Microvesicular hepatic steatosis 16055927 IBIS 9 / 7739
13
 (HPO:0008897) Postnatal growth retardation 16055927 IBIS 113 / 7739
14
 (HPO:0001511) Intrauterine growth retardation 22797137 IBIS 358 / 7739
15
 (HPO:0001644) Dilated cardiomyopathy 16055927 IBIS 141 / 7739
16
 (HPO:0001635) Congestive heart failure 17244376 IBIS 232 / 7739
17
 (HPO:0001645) Sudden cardiac death 16055927 IBIS 84 / 7739
18
 (HPO:0001657) Prolonged QT interval 22797137 IBIS 33 / 7739
19
 (HPO:0004856) Normochromic microcytic anemia 22797137 IBIS 1 / 7739
20
 (HPO:0001324) Muscle weakness 22797137 IBIS 859 / 7739
21
 (OMIM) Mental retardation, mild-borderline, nonprogressive 16055927 IBIS 1 / 7739
22
 (OMIM) Dilated cardiomyopathy, early onset 16055927 IBIS 1 / 7739
23
 (OMIM) Mildly elevated hepatic enzymes 16055927 IBIS 1 / 7739
24
 (OMIM) Small atrophic testes 16055927 IBIS 2 / 7739
25
 (HPO:0012817) Noncompaction cardiomyopathy 22797137 IBIS 2 / 7739

Associated genes:

DNAJC19;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Davey et al. (2006) reported 18 patients with dilated cardiomyopathy and ataxia from 11 consanguineous Canadian Dariusleut Hutterite families. Affected individuals had severe, early-onset dilated cardiomyopathy (sometimes accompanied by long QT syndrome), prenatal or postnatal growth failure, and ...
Molecular genetics OMIM Davey et al. (2006) sequenced candidate genes in patients with dilated cardiomyopathy and ataxia from a Canadian Dariusleut Hutterite population and identified homozygosity for a splice-site mutation in the DNAJC19 gene (608977.0001) in all 16 patients for whom ...
Population genetics OMIM In a carrier screening of autosomal recessive mutations involving 1,644 Schmiedeleut (S-leut) Hutterites in the United States, Chong et al. (2012) identified the DNAJC19 dilated cardiomyopathy and ataxia mutation IVS3-1G-C (dbSNP rs137854888, 608977.0001) in heterozygous state in 42 ...