MCID: 3MT014

3-Methylglutaconic Aciduria, Type V (MGCA5)

Categories: Eye diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare 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 20 13 39
Mga5 57 12 20 43 58 73
3-Methylglutaconic Aciduria Type 5 12 20 58 15 71
3-Methylglutaconic Aciduria Type V 12 43 29 6
Dilated Cardiomyopathy with Ataxia 12 20 58 73
Dcma Syndrome 12 20 43 58
Mgca5 57 12 43 73
Dcma 57 12 43 73
Mga Type V 43 73
Dilated Cardiomyopathy with Ataxia Syndrome 43
Cardiomyopathy, Dilated, with Ataxia; Dcma 57
3-Alpha-Methylglutaconic Aciduria Type 5 73
Cardiomyopathy, Dilated, with Ataxia 57
3-@methylglutaconic Aciduria, Type V 71
3-Methylglutaconic Aciduria 5 73
Mga, Type V; Mga5 57
Dnajc19 Defect 43
Mga, Type V 57


Orphanet epidemiological data:

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


57 (Updated 05-Mar-2021)
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: 58  
Inborn errors of metabolism

Summaries for 3-Methylglutaconic Aciduria, Type V

MedlinePlus Genetics : 43 Dilated cardiomyopathy with ataxia (DCMA) syndrome is an inherited condition characterized by heart problems, movement difficulties, and other features affecting multiple body systems.Beginning in infancy to early childhood, most people with DCMA syndrome develop dilated cardiomyopathy, which is a condition that weakens and enlarges the heart, preventing it from pumping blood efficiently. Some affected individuals also have long QT syndrome, which is a heart condition that causes the cardiac muscle to take longer than usual to recharge between beats. The irregular heartbeats (arrhythmia) can lead to fainting (syncope) or cardiac arrest and sudden death. Rarely, heart problems improve over time; however, in most cases of DCMA syndrome, affected individuals do not survive past childhood due to heart failure. A small percentage of people with DCMA syndrome have no heart problems at all.By age 2, children with DCMA syndrome have problems with coordination and balance (ataxia). These movement problems can result in delay of motor skills such as standing and walking, but most older children with DCMA syndrome can walk without support.In addition to heart problems and movement difficulties, most individuals with DCMA syndrome grow slowly before and after birth, which leads to short stature. Additionally, many affected individuals have mild intellectual disability. Many males with DCMA syndrome have genital abnormalities such as undescended testes (cryptorchidism) or the urethra opening on the underside of the penis (hypospadias). Other common features of DCMA syndrome include unusually small red blood cells (microcytic anemia), which can cause pale skin; an abnormal buildup of fats in the liver (hepatic steatosis), which can damage the liver; and the degeneration of nerve cells that carry visual information from the eyes to the brain (optic nerve atrophy), which can lead to vision loss.DCMA syndrome is associated with increased levels of a substance called 3-methylglutaconic acid in the urine. The amount of acid does not appear to influence the signs and symptoms of the condition. DCMA syndrome is one of a group of metabolic disorders that can be diagnosed by the presence of increased levels of 3-methylglutaconic acid in urine (3-methylglutaconic aciduria). People with DCMA syndrome also have high urine levels of another acid called 3-methylglutaric acid.

MalaCards based summary : 3-Methylglutaconic Aciduria, Type V, also known as mga5, is related to 3-methylglutaconic aciduria, type iv and 3-methylglutaconic aciduria, type i, and has symptoms including muscle weakness and cerebellar ataxia. An important gene associated with 3-Methylglutaconic Aciduria, Type V is DNAJC19 (DnaJ Heat Shock Protein Family (Hsp40) Member C19), and among its related pathways/superpathways are Metabolism of proteins and Mitochondrial protein import. Affiliated tissues include heart, liver and testes, and related phenotypes are ataxia and dilated cardiomyopathy

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

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 66634DefinitionDilated 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.

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) (Updated 05-Mar-2021)

UniProtKB/Swiss-Prot : 73 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, Type Iii family:

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

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 3-methylglutaconic aciduria, type iv 31.3 TMEM70 SUCLA2 SERAC1 OPA3 AUH
2 3-methylglutaconic aciduria, type i 29.4 TMEM70 TIMM50 SERAC1 OPA3 DNAJC19 AUH
3 3-methylglutaconic aciduria 29.0 TMEM70 TIMM8A TIMM50 TAZ SERAC1 PAM16
4 barth syndrome 28.8 TMEM70 TIMM17A TAZ TAMM41 SERAC1 OPA3
5 3-methylglutaconic aciduria, type iii 27.8 TMEM70 TIMM8A TIMM50 TAZ SUCLA2 SERAC1
6 ataxia and polyneuropathy, adult-onset 10.2
7 dilated cardiomyopathy 10.2
8 mitochondrial complex v deficiency, nuclear type 5 10.2 TMEM70 AGK
9 atrial standstill 1 10.2
10 amino acid metabolic disorder 10.1 SERAC1 OPA3 DNAJC19
11 optic atrophy 2 10.1 TIMM17B OPA3
12 autosomal recessive disease 10.1
13 optic atrophy 9 10.0 SUCLA2 OPA3
14 apraxia 10.0
15 oculomotor apraxia 10.0
16 mitochondrial dna depletion syndrome 6 10.0 SUCLA2 SERAC1
17 mitochondrial dna depletion syndrome 5 10.0 TMEM70 SUCLA2
18 cone-rod dystrophy 1 9.9 TAZ TAMM41
19 leber hereditary optic neuropathy, modifier of 9.9 TIMM8A TAZ OPA3
20 mitochondrial metabolism disease 9.9 TIMM8A SUCLA2 AGK
21 optic atrophy 1 9.9
22 cryptorchidism, unilateral or bilateral 9.9
23 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9
24 sensorineural hearing loss 9.9
25 dystonia 9.9
26 mitochondrial disorders 9.9
27 spasticity 9.9
28 tremor 9.9
29 fumarase deficiency 9.8 TMEM70 SUCLA2
30 spastic ataxia 5 9.7 TIMM17A PHB2 PHB
31 sengers syndrome 9.6 TMEM70 TIMM8A TIMM50 TAZ SERAC1 DNAJC19
32 organic acidemia 9.5 TMEM70 TAZ SUCLA2 SERAC1 OPA3 DNAJC19
33 3-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome 9.2 TMEM70 TIMM50 TAZ SUCLA2 SERAC1 OPA3
34 mohr-tranebjaerg syndrome 8.8 TIMM8A TIMM50 TIMM23B TIMM23 TIMM17A SUCLA2

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

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

58 31 (show all 50)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001251
2 dilated cardiomyopathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0001644
3 3-methylglutaconic aciduria 58 31 hallmark (90%) Very frequent (99-80%) HP:0003535
4 elevated circulating glutaric acid concentration 31 hallmark (90%) HP:0003530
5 intrauterine growth retardation 58 31 frequent (33%) Frequent (79-30%) HP:0001511
6 elevated hepatic transaminase 58 31 frequent (33%) Frequent (79-30%) HP:0002910
7 prolonged qt interval 58 31 frequent (33%) Frequent (79-30%) HP:0001657
8 increased serum lactate 58 31 frequent (33%) Frequent (79-30%) HP:0002151
9 delayed gross motor development 58 31 frequent (33%) Frequent (79-30%) HP:0002194
10 hypochromic microcytic anemia 58 31 frequent (33%) Frequent (79-30%) HP:0004840
11 normochromic microcytic anemia 58 31 frequent (33%) Frequent (79-30%) HP:0004856
12 optic atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000648
13 hypoplasia of penis 58 31 occasional (7.5%) Occasional (29-5%) HP:0008736
14 neonatal hypoglycemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001998
15 perineal hypospadias 58 31 occasional (7.5%) Occasional (29-5%) HP:0000051
16 bilateral cryptorchidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0008689
17 microvesicular hepatic steatosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001414
18 muscular ventricular septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0011623
19 seizure 31 occasional (7.5%) HP:0001250
20 hypothyroidism 58 31 very rare (1%) Very rare (<4-1%) HP:0000821
21 muscle weakness 58 31 very rare (1%) Very rare (<4-1%) HP:0001324
22 developmental regression 58 31 very rare (1%) Very rare (<4-1%) HP:0002376
23 abnormal facial shape 58 31 very rare (1%) Very rare (<4-1%) HP:0001999
24 dyskinesia 58 31 very rare (1%) Very rare (<4-1%) HP:0100660
25 neonatal hypotonia 58 31 very rare (1%) Very rare (<4-1%) HP:0001319
26 dystonia 58 31 very rare (1%) Very rare (<4-1%) HP:0001332
27 lower limb spasticity 58 31 very rare (1%) Very rare (<4-1%) HP:0002061
28 generalized amyotrophy 58 31 very rare (1%) Very rare (<4-1%) HP:0003700
29 bilateral sensorineural hearing impairment 58 31 very rare (1%) Very rare (<4-1%) HP:0008619
30 atrophy/degeneration affecting the brainstem 58 31 very rare (1%) Very rare (<4-1%) HP:0007366
31 arachnoid cyst 58 31 very rare (1%) Very rare (<4-1%) HP:0100702
32 bilateral basal ganglia lesions 58 31 very rare (1%) Very rare (<4-1%) HP:0007146
33 action tremor 58 31 very rare (1%) Very rare (<4-1%) HP:0002345
34 repetitive compulsive behavior 58 31 very rare (1%) Very rare (<4-1%) HP:0008762
35 diaphragmatic eventration 58 31 very rare (1%) Very rare (<4-1%) HP:0009110
36 intellectual disability 31 HP:0001249
37 seizures 58 Occasional (29-5%)
38 sudden cardiac death 31 HP:0001645
39 congestive heart failure 31 HP:0001635
40 cryptorchidism 31 HP:0000028
41 growth delay 58 Very frequent (99-80%)
42 postnatal growth retardation 31 HP:0008897
43 neurodevelopmental delay 58 Frequent (79-30%)
44 hypospadias 31 HP:0000047
45 decreased testicular size 31 HP:0008734
46 nonprogressive cerebellar ataxia 31 HP:0002470
47 glutaric acidemia 58 Very frequent (99-80%)
48 noncompaction cardiomyopathy 31 HP:0012817
49 3-methylglutaric aciduria 31 HP:0003344
50 glutaric aciduria 31 HP:0003150

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
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
noncompaction cardiomyopathy
cardiac failure
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®:

610198 (Updated 05-Mar-2021)

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

muscle weakness, cerebellar ataxia

Drugs & Therapeutics for 3-Methylglutaconic Aciduria, Type V

Search Clinical Trials , 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:

Heart, Liver, Testes, Cardiac Myocytes

Publications for 3-Methylglutaconic Aciduria, Type V

Articles related to 3-Methylglutaconic Aciduria, Type V:

# Title Authors PMID Year
A population-based study of autosomal-recessive disease-causing mutations in a founder population. 6 57
22981120 2012
New mutation of mitochondrial DNAJC19 causing dilated and noncompaction cardiomyopathy, anemia, ataxia, and male genital anomalies. 57 6
22797137 2012
Mutation of DNAJC19, a human homologue of yeast inner mitochondrial membrane co-chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like condition. 57 6
16055927 2006
Cardiac features of a novel autosomal recessive dilated cardiomyopathic syndrome due to defective importation of mitochondrial protein. 57
17244376 2007
Mechanical and Corrosion Properties of Mg-Based Alloys with Gd Addition. 61
31159193 2019

Variations for 3-Methylglutaconic Aciduria, Type V

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

6 (show all 16)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DNAJC19 NM_145261.4(DNAJC19):c.130-1G>C SNV Pathogenic 1951 rs137854888 3:180704811-180704811 3:180987023-180987023
2 DNAJC19 NM_145261.4(DNAJC19):c.300del (p.Ala101fs) Deletion Pathogenic 120181 rs587777224 3:180702479-180702479 3:180984691-180984691
3 DNAJC19 NM_145261.4(DNAJC19):c.63C>G (p.Tyr21Ter) SNV Pathogenic 937620 3:180705877-180705877 3:180988089-180988089
4 DNAJC19 NM_145261.4(DNAJC19):c.51del (p.Phe17fs) Deletion Pathogenic 958162 3:180705970-180705970 3:180988182-180988182
5 DNAJC19 NM_145261.4(DNAJC19):c.158G>A (p.Gly53Glu) SNV Likely pathogenic 993012 3:180704782-180704782 3:180986994-180986994
6 DNAJC19 NM_145261.4(DNAJC19):c.32C>T (p.Thr11Ile) SNV Uncertain significance 862872 3:180705989-180705989 3:180988201-180988201
7 DNAJC19 NM_145261.4(DNAJC19):c.*528_*529GT[9] Microsatellite Uncertain significance 344288 rs148074891 3:180701884-180701885 3:180984096-180984097
8 DNAJC19 NM_145261.4(DNAJC19):c.*190_*193ATTA[1] Microsatellite Uncertain significance 344295 rs886058203 3:180702231-180702234 3:180984443-180984446
9 DNAJC19 NM_145261.4(DNAJC19):c.*488G>C SNV Uncertain significance 344290 rs576646391 3:180701940-180701940 3:180984152-180984152
10 DNAJC19 NM_145261.4(DNAJC19):c.59G>A (p.Arg20His) SNV Uncertain significance 466328 rs756192515 3:180705881-180705881 3:180988093-180988093
11 DNAJC19 NM_145261.4(DNAJC19):c.1A>G (p.Met1Val) SNV Uncertain significance 534676 rs372756221 3:180707390-180707390 3:180989602-180989602
12 DNAJC19 NM_145261.4(DNAJC19):c.280+2dup Duplication Likely benign 779507 rs756616792 3:180703711-180703712 3:180985923-180985924
13 DNAJC19 NM_145261.4(DNAJC19):c.181C>T (p.Arg61Trp) SNV Likely benign 214298 rs141007488 3:180704759-180704759 3:180986971-180986971
14 DNAJC19 NM_145261.4(DNAJC19):c.285A>C (p.Gly95=) SNV Benign 137121 rs17850540 3:180702494-180702494 3:180984706-180984706
15 DNAJC19 NM_145261.4(DNAJC19):c.210-7T>A SNV Benign 705383 rs779367415 3:180703791-180703791 3:180986003-180986003
16 DNAJC19 NM_145261.4(DNAJC19):c.69G>A (p.Leu23=) SNV Benign 137120 rs142023670 3:180705871-180705871 3:180988083-180988083

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

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

# Super pathways Score Top Affiliating Genes
Show member pathways

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 membrane GO:0016020 10.31 TMEM70 TIMM8A TIMM50 TIMM23B TIMM23 TIMM17B
2 mitochondrial inner membrane GO:0005743 9.8 TMEM70 TIMM8A TIMM50 TIMM23B TIMM23 TIMM17B
3 integral component of mitochondrial inner membrane GO:0031305 9.65 TIMM23B TIMM23 TIMM17B TIMM17A AGK
4 mitochondrial intermembrane space GO:0005758 9.63 TIMM8A TIMM23 AGK
5 TIM23 mitochondrial import inner membrane translocase complex GO:0005744 9.63 TIMM50 TIMM23B TIMM23 TIMM17B TIMM17A PAM16
6 mitochondrion GO:0005739 9.58 TMEM70 TIMM8A TIMM50 TIMM23B TIMM23 TIMM17B
7 extrinsic component of mitochondrial inner membrane GO:0031314 9.48 TAMM41 PAM16
8 PAM complex, Tim23 associated import motor GO:0001405 9.43 PAM16 DNAJC19
9 inner mitochondrial membrane protein complex GO:0098800 9.37 PHB2 DNAJC19
10 mitochondrial prohibitin complex GO:0035632 9.32 PHB2 PHB

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 intracellular protein transport GO:0006886 9.76 TIMM23B TIMM23 TIMM17B TIMM17A
2 protein transport GO:0015031 9.76 TIMM8A TIMM50 TIMM23B TIMM23 TIMM17B TIMM17A
3 B cell activation GO:0042113 9.51 PHB2 PHB
4 activation of phospholipase C activity GO:0007202 9.49 PHB2 PHB
5 mitochondrial calcium ion transmembrane transport GO:0006851 9.48 PHB2 PHB
6 CD40 signaling pathway GO:0023035 9.43 PHB2 PHB
7 cardiolipin biosynthetic process GO:0032049 9.4 TAZ TAMM41
8 RIG-I signaling pathway GO:0039529 9.37 PHB2 PHB
9 activation of protein kinase C activity GO:1990051 9.32 PHB2 PHB
10 regulation of cardiolipin metabolic process GO:1900208 9.26 PHB2 DNAJC19
11 protein targeting to mitochondrion GO:0006626 9.26 TIMM23 TIMM17B TIMM17A DNAJC19
12 protein import into mitochondrial matrix GO:0030150 9.17 TIMM50 TIMM23B TIMM23 TIMM17B TIMM17A PAM16

Molecular functions related to 3-Methylglutaconic Aciduria, Type V according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein transmembrane transporter activity GO:0008320 9.26 TIMM23B TIMM23 TIMM17B TIMM17A
2 P-P-bond-hydrolysis-driven protein transmembrane transporter activity GO:0015450 8.92 TIMM23B TIMM23 TIMM17B TIMM17A

Sources for 3-Methylglutaconic Aciduria, Type V

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
70 Tocris
72 UMLS via Orphanet
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