MCID: 3MT014
MIFTS: 41

3-Methylglutaconic Aciduria, Type V

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

Aliases & Classifications for 3-Methylglutaconic Aciduria, Type V

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

Name: 3-Methylglutaconic Aciduria, Type V 57 53 13 40
Mga5 57 12 53 25 59 75
3-Methylglutaconic Aciduria Type 5 12 53 59 15 73
3-Methylglutaconic Aciduria Type V 12 25 29 6
Dilated Cardiomyopathy with Ataxia 12 53 59 75
Dcma Syndrome 12 53 25 59
Mgca5 57 12 25 75
Dcma 57 12 25 75
Mga Type V 25 75
Dilated Cardiomyopathy with Ataxia Syndrome 25
Cardiomyopathy, Dilated, with Ataxia; Dcma 57
3 Alpha Methylglutaconic Aciduria Type V 53
3-Alpha-Methylglutaconic Aciduria Type 5 75
Cardiomyopathy, Dilated, with Ataxia 57
3-@methylglutaconic Aciduria, Type V 73
3 Methylglutaconic Aciduria Type V 53
3-Methylglutaconic Aciduria 5 75
Mga, Type V; Mga5 57
Dnajc19 Defect 25
Mga, Type V 57
Mga 5 53
Mga V 53

Characteristics:

Orphanet epidemiological data:

59
dilated cardiomyopathy with ataxia
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
3-methylglutaconic aciduria, type v:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Inborn errors of metabolism


External Ids:

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

Summaries for 3-Methylglutaconic Aciduria, Type V

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.

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 34)
# Related Disease Score Top Affiliating Genes
1 barth syndrome 29.8 DNAJC19 TAZ
2 not otherwise specified 3-mga-uria type 11.0
3 ataxia neuropathy spectrum 10.6 POLG TWNK
4 maternally-inherited progressive external ophthalmoplegia 10.5 POLG TWNK
5 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 10.5 POLG TWNK
6 mitochondrial neurogastrointestinal encephalopathy disease 10.4 POLG TYMP
7 diabetic polyneuropathy 10.4 POLG TWNK
8 3-methylglutaconic aciduria, type i 10.3 AUH DNAJC19 OPA3 TMEM70
9 paralytic ileus 10.3 MT-TK TYMP
10 neonatal period electroclinical syndrome 10.3 MT-TK POLG
11 organic acidemia 10.3 SERAC1 TMEM70
12 mitochondrial dna-associated leigh syndrome and narp 10.2 MT-ND4 MT-TK
13 cortical blindness 10.1 MT-ND4 POLG
14 mitochondrial dna depletion syndrome 4a 10.1 POLG TWNK TYMP
15 myopathy, lactic acidosis, and sideroblastic anemia 10.1 MT-ND4 MT-TK
16 ocular motility disease 10.1 POLG TWNK TYMP
17 3-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome 10.1 AUH DNAJC19 OPA3 SERAC1 TMEM70
18 mitochondrial neurogastrointestinal encephalomyopathy 10.0 MT-TK POLG TYMP
19 mitochondrial dna depletion syndrome 1 10.0 MT-TK POLG TYMP
20 cranial nerve disease 10.0 MT-ND4 OPA3 POLG
21 encephalomyopathy 9.9 MT-ND4 TYMP
22 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9
23 dilated cardiomyopathy 9.9
24 sensorineural hearing loss 9.9
25 3-methylglutaconic aciduria 9.7 AUH DNAJC19 OPA3 SERAC1 TAZ TMEM70
26 3-methylglutaconic aciduria, type iv 9.7 AUH DNAJC19 OPA3 POLG SERAC1 TMEM70
27 chronic progressive external ophthalmoplegia 9.7 MT-TK POLG TWNK TYMP
28 tritanopia 9.3 MT-ND4 SNCA
29 myoclonic epilepsy associated with ragged-red fibers 9.3 DARS2 MT-ND4 MT-TK POLG TWNK
30 mitochondrial disorders 9.1 MT-ND4 MT-TK POLG TWNK TYMP
31 leigh syndrome 8.9 MT-ND4 MT-TK NPTX2 POLG SERAC1
32 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 8.5 DARS2 MT-ND4 MT-TK NPTX2 POLG TYMP
33 3-methylglutaconic aciduria, type iii 8.5 AUH DNAJC19 MT-ND4 OPA3 SERAC1 SNCA
34 kearns-sayre syndrome 8.5 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:

57
Muscle Soft Tissue:
muscle weakness
mild decrease in mitochondrial respiratory chain activity

GenitourinaryInternal GenitaliaMale:
cryptorchidism
small atrophic testes

Genitourinary External Genitalia Male:
hypospadias
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

Hematology:
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:

610198

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

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


# 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 29 DNAJC19

Anatomical Context for 3-Methylglutaconic Aciduria, Type V

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

41
Heart, Cardiac Myocytes, Testes

Publications for 3-Methylglutaconic Aciduria, Type V

Articles related to 3-Methylglutaconic Aciduria, Type V:

# Title Authors Year
1
Addition of Digoxin Improves Cardiac Function in Children With the Dilated Cardiomyopathy With Ataxia Syndrome: AA Mitochondrial Cardiomyopathy. ( 29887217 )
2018
2
Oculomotor apraxia and dilated cardiomyopathy with ataxia syndrome: A case report. ( 27054461 )
2016

Variations for 3-Methylglutaconic Aciduria, Type V

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

6
(show all 38)
# 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.130-1G> C single nucleotide variant Pathogenic rs137854888 GRCh38 Chromosome 3, 180987023: 180987023
3 DNAJC19 NM_145261.3(DNAJC19): c.300delA (p.Ala101Profs) deletion Pathogenic rs587777224 GRCh37 Chromosome 3, 180702479: 180702479
4 DNAJC19 NM_145261.3(DNAJC19): c.300delA (p.Ala101Profs) deletion Pathogenic rs587777224 GRCh38 Chromosome 3, 180984691: 180984691
5 DNAJC19 NM_145261.3(DNAJC19): c.281-12T> C single nucleotide variant Conflicting interpretations of pathogenicity rs141982712 GRCh37 Chromosome 3, 180702510: 180702510
6 DNAJC19 NM_145261.3(DNAJC19): c.281-12T> C single nucleotide variant Conflicting interpretations of pathogenicity rs141982712 GRCh38 Chromosome 3, 180984722: 180984722
7 DNAJC19 NM_145261.3(DNAJC19): c.*212C> T single nucleotide variant Uncertain significance rs190670376 GRCh37 Chromosome 3, 180702216: 180702216
8 DNAJC19 NM_145261.3(DNAJC19): c.*212C> T single nucleotide variant Uncertain significance rs190670376 GRCh38 Chromosome 3, 180984428: 180984428
9 DNAJC19 NM_145261.3(DNAJC19): c.129+15A> C single nucleotide variant Uncertain significance rs201697391 GRCh38 Chromosome 3, 180988008: 180988008
10 DNAJC19 NM_145261.3(DNAJC19): c.129+15A> C single nucleotide variant Uncertain significance rs201697391 GRCh37 Chromosome 3, 180705796: 180705796
11 DNAJC19 NM_145261.3(DNAJC19): c.*645A> C single nucleotide variant Uncertain significance rs146964003 GRCh38 Chromosome 3, 180983995: 180983995
12 DNAJC19 NM_145261.3(DNAJC19): c.*645A> C single nucleotide variant Uncertain significance rs146964003 GRCh37 Chromosome 3, 180701783: 180701783
13 DNAJC19 NM_145261.3(DNAJC19): c.*516A> G single nucleotide variant Uncertain significance rs762130203 GRCh38 Chromosome 3, 180984124: 180984124
14 DNAJC19 NM_145261.3(DNAJC19): c.*516A> G single nucleotide variant Uncertain significance rs762130203 GRCh37 Chromosome 3, 180701912: 180701912
15 DNAJC19 NM_145261.3(DNAJC19): c.*441G> A single nucleotide variant Uncertain significance rs1805635 GRCh37 Chromosome 3, 180701987: 180701987
16 DNAJC19 NM_145261.3(DNAJC19): c.*441G> A single nucleotide variant Uncertain significance rs1805635 GRCh38 Chromosome 3, 180984199: 180984199
17 DNAJC19 NM_145261.3(DNAJC19): c.*325T> C single nucleotide variant Uncertain significance rs886058202 GRCh37 Chromosome 3, 180702103: 180702103
18 DNAJC19 NM_145261.3(DNAJC19): c.*325T> C single nucleotide variant Uncertain significance rs886058202 GRCh38 Chromosome 3, 180984315: 180984315
19 DNAJC19 NM_145261.3(DNAJC19): c.*188G> A single nucleotide variant Benign rs1051411 GRCh38 Chromosome 3, 180984452: 180984452
20 DNAJC19 NM_145261.3(DNAJC19): c.*188G> A single nucleotide variant Benign rs1051411 GRCh37 Chromosome 3, 180702240: 180702240
21 DNAJC19 NM_145261.3(DNAJC19): c.118C> T (p.Leu40=) single nucleotide variant Uncertain significance rs886058204 GRCh38 Chromosome 3, 180988034: 180988034
22 DNAJC19 NM_145261.3(DNAJC19): c.118C> T (p.Leu40=) single nucleotide variant Uncertain significance rs886058204 GRCh37 Chromosome 3, 180705822: 180705822
23 DNAJC19 NM_145261.3(DNAJC19): c.-121C> T single nucleotide variant Uncertain significance rs886058205 GRCh38 Chromosome 3, 180989723: 180989723
24 DNAJC19 NM_145261.3(DNAJC19): c.-121C> T single nucleotide variant Uncertain significance rs886058205 GRCh37 Chromosome 3, 180707511: 180707511
25 DNAJC19 NM_145261.3(DNAJC19): c.*692T> C single nucleotide variant Uncertain significance rs555888288 GRCh38 Chromosome 3, 180983948: 180983948
26 DNAJC19 NM_145261.3(DNAJC19): c.*692T> C single nucleotide variant Uncertain significance rs555888288 GRCh37 Chromosome 3, 180701736: 180701736
27 DNAJC19 NM_145261.3(DNAJC19): c.*365T> C single nucleotide variant Uncertain significance rs143458718 GRCh37 Chromosome 3, 180702063: 180702063
28 DNAJC19 NM_145261.3(DNAJC19): c.*365T> C single nucleotide variant Uncertain significance rs143458718 GRCh38 Chromosome 3, 180984275: 180984275
29 DNAJC19 NM_145261.3(DNAJC19): c.*542_*543dupGT duplication Uncertain significance rs538879345 GRCh37 Chromosome 3, 180701885: 180701886
30 DNAJC19 NM_145261.3(DNAJC19): c.*542_*543dupGT duplication Uncertain significance rs538879345 GRCh38 Chromosome 3, 180984097: 180984098
31 DNAJC19 NM_145261.3(DNAJC19): c.*488G> C single nucleotide variant Uncertain significance rs576646391 GRCh37 Chromosome 3, 180701940: 180701940
32 DNAJC19 NM_145261.3(DNAJC19): c.*488G> C single nucleotide variant Uncertain significance rs576646391 GRCh38 Chromosome 3, 180984152: 180984152
33 DNAJC19 NM_145261.3(DNAJC19): c.*194_*197delATTA deletion Uncertain significance rs886058203 GRCh37 Chromosome 3, 180702231: 180702234
34 DNAJC19 NM_145261.3(DNAJC19): c.*194_*197delATTA deletion Uncertain significance rs886058203 GRCh38 Chromosome 3, 180984443: 180984446
35 DNAJC19 NM_145261.3(DNAJC19): c.59G> A (p.Arg20His) single nucleotide variant Uncertain significance rs756192515 GRCh38 Chromosome 3, 180988093: 180988093
36 DNAJC19 NM_145261.3(DNAJC19): c.59G> A (p.Arg20His) single nucleotide variant Uncertain significance rs756192515 GRCh37 Chromosome 3, 180705881: 180705881
37 DNAJC19 NM_145261.3(DNAJC19): c.1A> G (p.Met1Val) single nucleotide variant Uncertain significance rs372756221 GRCh37 Chromosome 3, 180707390: 180707390
38 DNAJC19 NM_145261.3(DNAJC19): c.1A> G (p.Met1Val) single nucleotide variant Uncertain significance rs372756221 GRCh38 Chromosome 3, 180989602: 180989602

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 inner membrane GO:0005743 9.55 DNAJC19 MT-ND4 PHB2 TAZ TMEM70
2 mitochondrion GO:0005739 9.44 AUH DARS2 DNAJC19 MT-ND4 OAT OPA3
3 mitochondrial matrix GO:0005759 9.35 AUH DARS2 OAT SNCA TWNK

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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