|
3-@METHYLGLUTACONIC ACIDURIA, TYPE V
|
0.730 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Dilated cardiomyopathy (DCM), non-progressive cerebellar ataxia (A), testicular dysgenesis, growth failure, and 3-methylglutaconic aciduria are the hallmarks of DNAJC19 defect (or DCMA syndrome) due to biallelic mutations in DNAJC19.
|
27928778 |
2017 |
|
3-@METHYLGLUTACONIC ACIDURIA, TYPE V
|
0.730 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Dilated cardiomyopathy (DCM), non-progressive cerebellar ataxia (A), testicular dysgenesis, growth failure, and 3-methylglutaconic aciduria are the hallmarks of DNAJC19 defect (or DCMA syndrome) due to biallelic mutations in DNAJC19.
|
27928778 |
2017 |
|
3-@METHYLGLUTACONIC ACIDURIA, TYPE V
|
0.730 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Progressive Cerebellar Atrophy and a Novel Homozygous Pathogenic DNAJC19 Variant as a Cause of Dilated Cardiomyopathy Ataxia Syndrome.
|
27426421 |
2016 |
|
3-@METHYLGLUTACONIC ACIDURIA, TYPE V
|
0.730 |
Biomarker
|
disease |
BEFREE |
The latter should be further classified and named by their defective protein or the historical name as follows: i) defective phospholipid remodelling (TAZ defect or Barth syndrome, SERAC1 defect or MEGDEL syndrome) and ii) mitochondrial membrane associated disorders (OPA3 defect or Costeff syndrome, DNAJC19 defect or DCMA syndrome, TMEM70 defect).
|
23296368 |
2013 |
|
3-@METHYLGLUTACONIC ACIDURIA, TYPE V
|
0.730 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
This is the first clinical report of DCMA syndrome, a human DNAJC19 deficiency, that is related to cases of severe dilated cardiomyopathy diagnosed in Europe.
|
22797137 |
2012 |
|
3-@METHYLGLUTACONIC ACIDURIA, TYPE V
|
0.730 |
GeneticVariation
|
disease |
BEFREE |
Two brothers of Finnish origin presented with an unusual combination of early onset dilated cardiomyopathy syndrome, a disease which was associated with cardiac noncompaction, microcytic anemia, ataxia, male genital anomalies and methylglutaconic aciduria type V. Suspicion of a DCMA syndrome prompted sequencing of the human DNAJC19 gene.
|
22797137 |
2012 |
|
3-@METHYLGLUTACONIC ACIDURIA, TYPE V
|
0.730 |
GermlineCausalMutation
|
disease |
ORPHANET |
Mutation of DNAJC19, a human homologue of yeast inner mitochondrial membrane co-chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like condition.
|
16055927 |
2006 |
|
3-@METHYLGLUTACONIC ACIDURIA, TYPE V
|
0.730 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutation of DNAJC19, a human homologue of yeast inner mitochondrial membrane co-chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like condition.
|
16055927 |
2006 |
|
3-@METHYLGLUTACONIC ACIDURIA, TYPE V
|
0.730 |
CausalMutation
|
disease |
CLINVAR |
Mutation of DNAJC19, a human homologue of yeast inner mitochondrial membrane co-chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like condition.
|
16055927 |
2006 |
|
3-@METHYLGLUTACONIC ACIDURIA, TYPE V
|
0.730 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutation of DNAJC19, a human homologue of yeast inner mitochondrial membrane co-chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like condition.
|
16055927 |
2006 |
|
3-@METHYLGLUTACONIC ACIDURIA, TYPE V
|
0.730 |
GeneticVariation
|
disease |
BEFREE |
Mutation of DNAJC19, a human homologue of yeast inner mitochondrial membrane co-chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like condition.
|
16055927 |
2006 |
|
3-@METHYLGLUTACONIC ACIDURIA, TYPE V
|
0.730 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
3-@METHYLGLUTACONIC ACIDURIA, TYPE V
|
0.730 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|