3-methylglutaconic aciduria, type V

Preferred Label : 3-methylglutaconic aciduria, type V;

Symbol : MGCA5;

CISMeF acronym : DCMA; MGA5; MGCA5;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cardiomyopathy, dilated, with ataxia; Mga, type V; MGA5; DCMA;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the homolog of the E. coli DNAJ subfamily C member 19 gene (DNAJC19, 608977.0001);

Laboratory abnormalities : 3-methylglutaconic aciduria (3-MGC); 3-methylglutaric aciduria (3-MGA); Mildly elevated hepatic enzymes;

Prefixed ID : #610198;

Détails

Origin ID

610198;

UMLS CUI

C1857776;

CISMeF manual mappings
- 3-methylglutaconic aciduria type 5 (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- 3-Methylglutaconic Aciduria Type 5 [NCIt concept]
- 3-Methylglutaconic aciduria, type V [MeSH Supplementary Concept]
- 3-Methylglutaconic aciduria, type V [MeSH concept]
- 3-methylglutaconic aciduria type 5 [DO Concept]
- 3-methylglutaconic aciduria type 5 [ICD-11 More detail]
- Dilated cardiomyopathy with ataxia [ORDO Disease]
DO Cross reference
- 3-methylglutaconic aciduria type 5 [DO Concept]
Genes related to phenotype
- Dnaj/hsp40 homolog, subfamily C, member 19 [OMIM gene]
HPO term(s)
- 3-Methylglutaric aciduria [HPO term]
- Autosomal recessive inheritance [HPO term]
- Congestive heart failure [HPO term]
- Cryptorchidism [HPO term]
- Decreased testicular size [HPO term]
- Dilated cardiomyopathy [HPO term]
- Glutaric aciduria [HPO term]
- Hypospadias [HPO term]
- Intellectual disability [HPO term]
- Intrauterine growth retardation [HPO term]
- Microvesicular hepatic steatosis [HPO term]
- Muscle weakness [HPO term]
- Noncompaction cardiomyopathy [HPO term]
- Nonprogressive cerebellar ataxia [HPO term]
- Normochromic microcytic anemia [HPO term]
- Optic atrophy [HPO term]
- Postnatal growth failure [HPO term]
- Postnatal growth retardation [HPO term]
- Prenatal growth deficiency [HPO term]
- Prolonged QT interval [HPO term]
- Sudden cardiac death [HPO term]
ORDO concept(s)
- Dilated cardiomyopathy with ataxia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 3-Methylglutaconic Aciduria Type 5 [NCIt concept]
- 3-Methylglutaconic aciduria, type V [MeSH Supplementary Concept]
- 3-Methylglutaconic aciduria, type V [MeSH concept]
- 3-methylglutaconic aciduria type 5 (disorder) [SNOMED CT concept]
- Dilated cardiomyopathy with ataxia [ORDO Disease]

Position du mot-clé dans l'(les) arborescence(s) :

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