3-Methylglutaconic Aciduria, Type V

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OMIM 57 610198 Disease Ontology 12 DOID:0110000 Orphanet 59 ORPHA66634 ICD10 via Orphanet 34 E71.1 UMLS via Orphanet 74 C1857776

MedGen 42 C1857776 MeSH 44 D002311 SNOMED-CT via HPO 69 258211005 204878001 204888000 76976005 228156007 247578003 91138005 26544005 199612005 22033007 42343007 84114007 195021004 399020009 95281009 111975006 28987007 4984008 276411001 more UMLS 73 C1857776 C4039473

NIH Rare Diseases : ⁵³ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 66634Disease definitionDilated cardiomyopathy with ataxia (DCMA) is characterized by severe early onset (before the age of three years) dilated cardiomyopathy (DCM) with conduction defects (long QT syndrome), non-progressive cerebellar ataxia, testicular dysgenesis, and 3-methylglutaconic aciduria.EpidemiologyTo date, all cases of DCMA reported involve individuals from the Dariusleut Hutterite population, an endogamous population of the Great Plains region of Canada and the northern United States.Clinical descriptionPrenatal or postnatal growth failure, significant motor delay (due to cerebellar syndrome with ataxia) and male genital anomalies (ranging from isolated cryptorchidism to severe perineal hypospadias) are very frequent clinical signs. Additional features include optic atrophy, a mild increase in hepatic enzymes with microvesicular hepatic steatosis, a normochromic microcytic anemia, and mild to borderline non-progressive intellectual deficit.EtiologyDCMA is caused by mutation of the DNAJC19 gene (encoding the DNAJC19 protein localized to the mitochondria in cardiac myocytes).Differential diagnosisDCMA syndrome shares some clinical features with the X-linked Barth syndrome and the other 3-methylglutaconic acidurias (types I, III and IV; see these terms).Genetic counselingDCMA is an autosomal recessive condition.PrognosisIn a clinical study of 18 DCMA patients, over 70% of patients died from either progressive cardiac failure or sudden cardiac death. Improvement with standard medical treatment or complete resolution of the DCM has been reported in some patients.Visit the Orphanet disease page for more resources.

MalaCards based summary : 3-Methylglutaconic Aciduria, Type V, also known as mga5, is related to barth syndrome and not otherwise specified 3-mga-uria type, and has symptoms including cerebellar ataxia and muscle weakness. An important gene associated with 3-Methylglutaconic Aciduria, Type V is DNAJC19 (DnaJ Heat Shock Protein Family (Hsp40) Member C19). Affiliated tissues include heart, cardiac myocytes and testes, and related phenotypes are intellectual disability and muscle weakness

Disease Ontology : ¹² A 3-methylglutaconic aciduria that has material basis in homozygous mutation in the DNAJC19 gene on chromosome 3q26.

Genetics Home Reference : ²⁵ Dilated cardiomyopathy with ataxia (DCMA) syndrome is an inherited condition characterized by heart problems, movement difficulties, and other features affecting multiple body systems.

OMIM : ⁵⁷ 3-Methylglutaconic aciduria type V is an autosomal recessive disorder characterized by the onset of dilated or noncompaction cardiomyopathy in infancy or early childhood. Many patients die of cardiac failure. Other features include microcytic anemia, growth retardation, mild ataxia, mild muscle weakness, genital anomalies in males, and increased urinary excretion of 3-methylglutaconic acid. Some patients may have optic atrophy or delayed psychomotor development (summary by Davey et al., 2006 and Ojala et al., 2012). For a discussion of genetic heterogeneity of 3-methylglutaconic aciduria, see MGCA type I (250950). (610198)

UniProtKB/Swiss-Prot : ⁷⁵ 3-methylglutaconic aciduria 5: An autosomal recessive disorder characterized by early-onset dilated cardiomyopathy, growth failure, cerebellar ataxia causing significant motor delays, testicular dysgenesis, growth failure and significant increases in urine organic acids, particularly 3-methylglutaconic acid and 3-methylglutaric acid.

Clinical features from OMIM:

610198

Search NIH Clinical Center for 3-Methylglutaconic Aciduria, Type V

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