MCID: 3MT014

3-Methylglutaconic Aciduria, Type V

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

Aliases & Classifications for 3-Methylglutaconic Aciduria, Type V

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

Name: 3-Methylglutaconic Aciduria, Type V 54 50 13
3-Methylglutaconic Aciduria Type 5 12 50 24 56 14 69
Dilated Cardiomyopathy with Ataxia 12 50 24 56 71
Mga5 12 50 25 56 71
Dcma Syndrome 12 50 25 56
3-Methylglutaconic Aciduria Type V 12 25 29
Mgca5 12 25 71
Dcma 12 25 71
Mga Type V 25 71
Dilated Cardiomyopathy with Ataxia Syndrome 25
3 Alpha Methylglutaconic Aciduria Type V 50
3-Alpha-Methylglutaconic Aciduria Type 5 71
3-@methylglutaconic Aciduria, Type V 69
3 Methylglutaconic Aciduria, Type V 24
3 Methylglutaconic Aciduria Type V 50
3-Methylglutaconic Aciduria 5 71
Dnajc19 Defect 25
Mga 5 50
Mga V 50


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: 56  
Inborn errors of metabolism

Summaries for 3-Methylglutaconic Aciduria, Type V

NIH Rare Diseases : 50 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 3-methylglutaconic aciduria type 5, is related to not otherwise specified 3-mga-uria type and 11q22.2q22.3 microdeletion syndrome, and has symptoms including optic atrophy, intrauterine growth retardation and hypospadias. 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.

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 : 54
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.

Related Diseases for 3-Methylglutaconic Aciduria, Type V

Diseases in the 3-Methylglutaconic Aciduria family:

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

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

(show all 38)
id Related Disease Score Top Affiliating Genes
1 not otherwise specified 3-mga-uria type 10.9
2 11q22.2q22.3 microdeletion syndrome 10.5 POLG TYMP
3 lmna-related emery-dreifuss muscular dystrophy, autosomal 10.5 AUH OPA3 SERAC1
4 deafness, autosomal dominant 30 10.5 POLG TWNK
5 body dysmorphic disorder 10.4 SERAC1 TMEM70
6 multiple epiphyseal dysplasia, recessive 10.4 POLG TYMP
7 bone marrow failure syndrome 2 10.3 AUH DNAJC19 OPA3 SERAC1
8 megalencephalic leukoencephalopathy with subcortical cysts 10.3 MT-TK TYMP
9 intussusception 10.3 MT-TK TYMP
10 b9d2-related meckel syndrome 10.3 POLG TWNK
11 mitochondrial recessive ataxia syndrome 10.2 POLG TWNK TYMP
12 chronic lacrimal gland enlargement 10.2 POLG TWNK
13 enterocele 10.1 POLG TWNK TYMP
14 microvascular complications of diabetes 6 10.1 AUH DNAJC19 OPA3 SERAC1 TMEM70
15 3-m syndrome 3 10.1 AUH DNAJC19 OPA3 SERAC1 TMEM70
16 mitochondrial neurogastrointestinal encephalopathy disease 10.1 MT-ND4 MT-TK
17 myopathy, x-linked, with excessive autophagy 10.1 DNAJC19 TAZ
18 pleomorphic carcinoma 10.1 MT-ND4 OPA3 POLG
19 enchondromatosis dwarfism deafness 10.0 MT-ND4 TYMP
20 ciliopathy 9.8 AUH DNAJC19 OPA3 SERAC1 TAZ TMEM70
21 cerebrooculonasal syndrome 9.8 AUH DNAJC19 OPA3 POLG SERAC1 TMEM70
22 dyscalculia 9.8 MT-TK POLG TWNK TYMP
23 multiple epiphyseal dysplasia with robin phenotype 9.8 DARS2 MT-ND4 MT-TK TWNK
24 barth syndrome 9.8
25 dilated cardiomyopathy 9.8
26 sensorineural hearing loss 9.8
27 cardiomyopathy 9.8
28 ataxia 9.8
29 viral infectious disease 9.7 MT-ND4 SNCA
30 hypopigmentation of eyelid 9.7 MT-ND4 SNCA
31 behr syndrome 9.5 MT-ND4 OPA3 SNCA
32 androgen insensitivity 9.5 MT-ND4 MT-TK NPTX2 OPA3
33 multiminicore disease 9.3 MT-ND4 MT-TK POLG TWNK TYMP
34 protoplasmic astrocytoma 9.2 MT-ND4 MT-TK NPTX2 POLG SERAC1
35 bjornstad syndrome 9.2 MT-ND4 MT-TK NPTX2 POLG SERAC1
36 myoclonic epilepsy associated with ragged-red fibers 8.8 DARS2 MT-ND4 MT-TK NPTX2 POLG TYMP
37 mental retardation with spastic paraplegia 8.8 MT-ND4 MT-TK NPTX2 POLG TWNK TYMP
38 charcot-marie-tooth disease, dominant intermediate f 4.6 AHSG AUH DARS2 DNAJC19 EFNA5 MT-ND4

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:


Genitourinary- External Genitalia Male:
chorda penis

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

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

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

microcytic anemia

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

Genitourinary- Internal Genitalia Male:
small atrophic testes

Growth- Other:
postnatal growth failure
prenatal growth failure

Abdomen- Liver:
microvesicular hepatic steatosis

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:

32 (show all 18)
id Description HPO Frequency HPO Source Accession
1 optic atrophy 32 HP:0000648
2 intrauterine growth retardation 32 HP:0001511
3 hypospadias 32 HP:0000047
4 muscle weakness 32 HP:0001324
5 dilated cardiomyopathy 32 HP:0001644
6 cryptorchidism 32 HP:0000028
7 intellectual disability 32 HP:0001249
8 congestive heart failure 32 HP:0001635
9 sudden cardiac death 32 HP:0001645
10 postnatal growth retardation 32 HP:0008897
11 noncompaction cardiomyopathy 32 HP:0012817
12 microvesicular hepatic steatosis 32 HP:0001414
13 glutaric aciduria 32 HP:0003150
14 decreased testicular size 32 HP:0008734
15 prolonged qt interval 32 HP:0001657
16 nonprogressive cerebellar ataxia 32 HP:0002470
17 3-methylglutaric aciduria 32 HP:0003344
18 normochromic microcytic anemia 32 HP:0004856

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

cerebellar ataxia, muscle weakness

Drugs & Therapeutics for 3-Methylglutaconic Aciduria, Type V

Interventional clinical trials:

id 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:

id Genetic test Affiliating Genes
1 3-Methylglutaconic Aciduria Type V 29
2 3-Methylglutaconic Aciduria Type 5 24 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

Variations for 3-Methylglutaconic Aciduria, Type V

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

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

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:

id 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:

id Name GO ID Score Top Affiliating Genes
1 protein hexamerization GO:0034214 9.16 OAT TWNK
2 mitochondrial ATP synthesis coupled electron transport GO:0042775 8.96 SNCA TAZ
3 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
28 GO
29 GTR
32 HPO
33 ICD10
34 ICD10 via Orphanet
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
52 Novoseek
55 OMIM via Orphanet
59 PubMed
66 SNOMED-CT via Orphanet
68 Tocris
70 UMLS via Orphanet
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