MCID: 3MT014

3-Methylglutaconic Aciduria, Type V

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Metabolic diseases, Cardiovascular diseases

Aliases & Classifications for 3-Methylglutaconic Aciduria, Type V

MalaCards integrated aliases for 3-Methylglutaconic Aciduria, Type V:

Name: 3-Methylglutaconic Aciduria, Type V 53 49 13
Mga5 53 12 49 24 55 71
3-Methylglutaconic Aciduria Type 5 12 49 55 14 69
Dilated Cardiomyopathy with Ataxia 12 49 55 71
Dcma Syndrome 12 49 24 55
Mgca5 53 12 24 71
Dcma 53 12 24 71
3-Methylglutaconic Aciduria Type V 12 24 28
Mga Type V 24 71
Dilated Cardiomyopathy with Ataxia Syndrome 24
Cardiomyopathy, Dilated, with Ataxia; Dcma 53
3 Alpha Methylglutaconic Aciduria Type V 49
3-Alpha-Methylglutaconic Aciduria Type 5 71
Cardiomyopathy, Dilated, with Ataxia 53
3-@methylglutaconic Aciduria, Type V 69
3 Methylglutaconic Aciduria Type V 49
3-Methylglutaconic Aciduria 5 71
Mga, Type V; Mga5 53
Dnajc19 Defect 24
Mga, Type V 53
Mga 5 49
Mga V 49


Orphanet epidemiological data:

dilated cardiomyopathy with ataxia
Inheritance: Autosomal recessive; Age of onset: Childhood;


autosomal recessive

increased frequency in the dariusleut hutterites (canada)
onset of dilated cardiomyopathy less than 3 years


3-methylglutaconic aciduria, type v:
Inheritance autosomal recessive inheritance


Orphanet: 55  
Inborn errors of metabolism

External Ids:

OMIM 53 610198
Disease Ontology 12 DOID:0110000
ICD10 32 E71.1
Orphanet 55 ORPHA66634
UMLS via Orphanet 70 C1857776
ICD10 via Orphanet 33 E71.1
MedGen 39 C1857776
MeSH 41 D002311

Summaries for 3-Methylglutaconic Aciduria, Type V

NIH Rare Diseases : 49 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. Last updated: 1/2/2007

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 muscle weakness, intellectual disability and sudden cardiac death. 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.

OMIM : 53 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 : 71 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.

Genetics Home Reference : 24 Dilated cardiomyopathy with ataxia (DCMA) syndrome is an inherited condition characterized by heart problems, movement difficulties, and other features affecting multiple body systems.

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

Related Diseases for 3-Methylglutaconic Aciduria, Type V

Diseases in the 3-Methylglutaconic Aciduria family:

3-Methylglutaconic Aciduria, Type I 3-Methylglutaconic Aciduria, Type Iv
3-Methylglutaconic Aciduria, Type Iii 3-Methylglutaconic Aciduria, Type V
3-Methylglutaconic Aciduria, Type Viii 3-Methylglutaconic Aciduria, Type Ix

Diseases related to 3-Methylglutaconic Aciduria, Type V via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 35)
# Related Disease Score Top Affiliating Genes
1 barth syndrome 30.0 DNAJC19 TAZ
2 not otherwise specified 3-mga-uria type 11.0
3 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 10.3 POLG TWNK
4 mitochondrial neurogastrointestinal encephalopathy disease 10.3 POLG TYMP
5 autosomal dominant progressive external ophthalmoplegia 10.2 POLG TWNK
6 3-methylglutaconic aciduria, type i 10.2 AUH DNAJC19 OPA3 TMEM70
7 paralytic ileus 10.2 MT-TK TYMP
8 neonatal period electroclinical syndrome 10.2 MT-TK POLG
9 diabetic polyneuropathy 10.1 POLG TWNK
10 mitochondrial dna-associated leigh syndrome and narp 10.1 MT-ND4 MT-TK
11 cortical blindness 10.1 MT-ND4 POLG
12 mitochondrial dna depletion syndrome 4a 10.1 POLG TWNK TYMP
13 ocular motility disease 10.1 POLG TWNK TYMP
14 3-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome 10.1 AUH DNAJC19 OPA3 SERAC1 TMEM70
15 organic acidemia 10.0 SERAC1 TMEM70
16 encephalomyopathy 10.0 MT-ND4 TYMP
17 mitochondrial dna depletion syndrome 1 10.0 MT-TK POLG TYMP
18 mitochondrial neurogastrointestinal encephalomyopathy 10.0 MT-TK POLG TYMP
19 cranial nerve disease 10.0 MT-ND4 OPA3 POLG
20 ataxia and polyneuropathy, adult-onset 9.9
21 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9
22 dilated cardiomyopathy 9.9
23 sensorineural hearing loss 9.9
24 3-methylglutaconic aciduria 9.8 AUH DNAJC19 OPA3 SERAC1 TAZ TMEM70
25 3-methylglutaconic aciduria, type iv 9.8 AUH DNAJC19 OPA3 POLG SERAC1 TMEM70
26 chronic progressive external ophthalmoplegia 9.8 MT-TK POLG TWNK TYMP
27 myoclonic epilepsy associated with ragged-red fibers 9.8 DARS2 MT-ND4 MT-TK TWNK
28 scotoma 9.8 MT-ND4 SNCA
29 tritanopia 9.6 MT-ND4 SNCA
30 mitochondrial disorders 9.4 MT-ND4 MT-TK POLG TWNK TYMP
31 leigh syndrome 9.3 MT-ND4 MT-TK NPTX2 POLG SERAC1
32 mitochondrial metabolism disease 9.2 MT-ND4 MT-TK NPTX2 POLG SERAC1 TWNK
33 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 9.1 DARS2 MT-ND4 MT-TK NPTX2 POLG TYMP
34 3-methylglutaconic aciduria, type iii 9.1 AUH DNAJC19 MT-ND4 OPA3 SERAC1 SNCA
35 kearns-sayre syndrome 9.1 MT-ND4 MT-TK NPTX2 POLG TWNK TYMP

Graphical network of the top 20 diseases related to 3-Methylglutaconic Aciduria, Type V:

Diseases related to 3-Methylglutaconic Aciduria, Type V

Symptoms & Phenotypes for 3-Methylglutaconic Aciduria, Type V

Symptoms via clinical synopsis from OMIM:

Muscle Soft Tissue:
muscle weakness
mild decrease in mitochondrial respiratory chain activity

Genitourinary Internal Genitalia Male:
small atrophic testes

Genitourinary External Genitalia Male:
chorda penis

Head And Neck Eyes:
optic atrophy (in some patients)

Growth Other:
prenatal growth failure
postnatal growth failure

Cardiovascular Heart:
sudden cardiac death
cardiac failure
noncompaction cardiomyopathy
dilated cardiomyopathy, early onset
long qt syndrome

microcytic anemia

Abdomen Liver:
microvesicular hepatic steatosis

Neurologic Central Nervous System:
cerebellar ataxia, nonprogressive
mental retardation, mild-borderline, nonprogressive

Laboratory Abnormalities:
3-methylglutaconic aciduria (3-mgc)
3-methylglutaric aciduria (3-mga)
mildly elevated hepatic enzymes

Clinical features from OMIM:


Human phenotypes related to 3-Methylglutaconic Aciduria, Type V:

31 (show all 18)
# Description HPO Frequency HPO Source Accession
1 muscle weakness 31 HP:0001324
2 intellectual disability 31 HP:0001249
3 sudden cardiac death 31 HP:0001645
4 optic atrophy 31 HP:0000648
5 congestive heart failure 31 HP:0001635
6 cryptorchidism 31 HP:0000028
7 intrauterine growth retardation 31 HP:0001511
8 postnatal growth retardation 31 HP:0008897
9 prolonged qt interval 31 HP:0001657
10 hypospadias 31 HP:0000047
11 decreased testicular size 31 HP:0008734
12 dilated cardiomyopathy 31 HP:0001644
13 microvesicular hepatic steatosis 31 HP:0001414
14 nonprogressive cerebellar ataxia 31 HP:0002470
15 glutaric aciduria 31 HP:0003150
16 noncompaction cardiomyopathy 31 HP:0012817
17 3-methylglutaric aciduria 31 HP:0003344
18 normochromic microcytic anemia 31 HP:0004856

UMLS symptoms related to 3-Methylglutaconic Aciduria, Type V:

muscle weakness, cerebellar ataxia

Drugs & Therapeutics for 3-Methylglutaconic Aciduria, Type V

Interventional clinical trials:

# Name Status NCT ID Phase Drugs
1 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

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

Genetic Tests for 3-Methylglutaconic Aciduria, Type V

Genetic tests related to 3-Methylglutaconic Aciduria, Type V:

# Genetic test Affiliating Genes
1 3-Methylglutaconic Aciduria Type V 28 DNAJC19

Anatomical Context for 3-Methylglutaconic Aciduria, Type V

MalaCards organs/tissues related to 3-Methylglutaconic Aciduria, Type V:

Heart, Cardiac Myocytes, Testes

Publications for 3-Methylglutaconic Aciduria, Type V

Articles related to 3-Methylglutaconic Aciduria, Type V:

# Title Authors Year
Oculomotor apraxia and dilated cardiomyopathy with ataxia syndrome: A case report. ( 27054461 )

Variations for 3-Methylglutaconic Aciduria, Type V

ClinVar genetic disease variations for 3-Methylglutaconic Aciduria, Type V:

# Gene Variation Type Significance SNP ID Assembly Location
1 DNAJC19 NM_145261.3(DNAJC19): c.300delA (p.Ala101Profs) deletion Pathogenic rs587777224 GRCh37 Chromosome 3, 180702479: 180702479
2 DNAJC19 NM_145261.3(DNAJC19): c.130-1G> C single nucleotide variant Pathogenic rs137854888 GRCh37 Chromosome 3, 180704811: 180704811

Expression for 3-Methylglutaconic Aciduria, Type V

Search GEO for disease gene expression data for 3-Methylglutaconic Aciduria, Type V.

Pathways for 3-Methylglutaconic Aciduria, Type V

GO Terms for 3-Methylglutaconic Aciduria, Type V

Cellular components related to 3-Methylglutaconic Aciduria, Type V according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial matrix GO:0005759 9.46 AUH DARS2 OAT TWNK
2 mitochondrion GO:0005739 9.44 AUH DARS2 DNAJC19 MT-ND4 OAT OPA3
3 mitochondrial inner membrane GO:0005743 9.35 DNAJC19 MT-ND4 PHB2 TAZ TMEM70

Biological processes related to 3-Methylglutaconic Aciduria, Type V according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 aging GO:0007568 9.43 MT-ND4 POLG SNCA
2 protein hexamerization GO:0034214 9.16 OAT TWNK
3 mitochondrial ATP synthesis coupled electron transport GO:0042775 8.96 SNCA TAZ
4 mitochondrial DNA replication GO:0006264 8.62 POLG TWNK

Sources for 3-Methylglutaconic Aciduria, Type V

9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
51 Novoseek
54 OMIM via Orphanet
58 PubMed
66 SNOMED-CT via Orphanet
68 Tocris
70 UMLS via Orphanet
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