ORPHA:66634
Dilated cardiomyopathy with ataxia
Synonyms: 3-methylglutaconic aciduria type 5 · DCMA syndrome · MGA5
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy
- Status
- active
Dilated 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.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Dilated cardiomyopathy with ataxia | 3-methylglutaconic aciduria type 5 · DCMA syndrome · MGA5 |
| fr | Syndrome de cardiomyopathie dilatée-ataxie | Acidurie 3-méthylglutaconique type 5 · MGA5 · Syndrome DCMA |
| de | Dilatative Kardiomyopathie mit Ataxie | 3-Methylglutaconazidurie Typ 5 · DCMA-Syndrom · MGA5 |
| es | Miocardiopatía dilatada con ataxia | Aciduria 3-metilglutacónica tipo 5 · Cardiomiopatía dilatada con ataxia · MGA5 · Síndrome DCMA |
| it | Cardiomiopatia dilatativa con atassia | Aciduria 3-metilglutaconica, tipo 5 · MGA5 · Sindrome DMCA |
| nl | Gedilateerde cardiomyopathie met ataxie | 3-methylglutaconacidurie type 5 · DCMA-syndroom · MGA5 |
| pt | Miocardiopatia dilatada com ataxia | Síndrome DMCA |
| pl | Kardiomiopatia rozstrzeniowa z ataksją | Acyduria 3-metyloglutakonowa typu 5 · MGA5 · Zespół DCMA |
| cs | Dilatační kardiomyopatie s ataxií | 3-methylglutakonová acidurie typu V · DCMA syndrom · MGA5 |
| uk | Дилатаційна кардіоміопатія з атаксією | 3-метилглутаконова ацидурія типу 5 · Синдром DCMA · MGA5 |
| zh | 扩张性心肌病伴共济失调 | 3-甲基戊二酸尿症5型 |
| tr | Ataksi ile seyreden dilate kardiyomiyopati | MGA5 · DCMA sendromu · 3-metilglutakonik asidüri tip 5 |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 610198 | E | validated | |
| ICD-10 | E71.1 | NTBT | attributed | validated |
| ICD-11 | 5C50.E0 | NTBT | index | validated |
| MONDO | 0012435 | E | validated | |
| MeSH | C565706 | E | validated | |
| UMLS | C1857776 | E | validated | |
| GARD | 12964 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:2899023-methylglutaconic aciduria
rare inborn errors of metabolism; rare genetic diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases - ORPHA:217619Syndrome associated with dilated cardiomyopathy
rare cardiac diseases; rare genetic diseases; rare transplant-related disorders
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DNAJC19 | Disease-causing germline mutation(s) in | Assessed | HGNC:30528 | ENSG00000205981 | 608977 | 3q26.33 | DnaJ heat shock protein family (Hsp40) member C19 | 16055927[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
37 annotations · validated 2019-02-14| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003535 | 3-Methylglutaconic aciduria | |
| HP:0001251 | Ataxia | |
| HP:0001644 | Dilated cardiomyopathy | |
| HP:0003530 | Glutaric acidemia | |
| HP:0001510 | Growth delay | |
| Frequent (79-30%) | ||
| HP:0002194 | Delayed gross motor development | |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0004840 | Hypochromic microcytic anemia | |
| HP:0002151 | Increased circulating lactate concentration | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0012758 | Neurodevelopmental delay | |
| HP:0004856 | Normochromic microcytic anemia | |
| HP:0001657 | Prolonged QT interval | |
| Occasional (29-5%) | ||
| HP:0008689 | Bilateral cryptorchidism | |
| HP:0008736 | Hypoplasia of penis | |
| HP:0001414 | Microvesicular hepatic steatosis | |
| HP:0011623 | Muscular ventricular septal defect | |
| HP:0001998 | Neonatal hypoglycemia | |
| HP:0000648 | Optic atrophy | |
| HP:0000051 | Perineal hypospadias | |
| HP:0001250 | Seizure | |
| Very rare (<4-1%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0002345 | Action tremor | |
| HP:0100702 | Arachnoid cyst | |
| HP:0007366 | Atrophy/Degeneration affecting the brainstem | |
| HP:0007146 | Bilateral basal ganglia lesions | |
| HP:0008619 | Bilateral sensorineural hearing impairment | |
| HP:0002376 | Developmental regression | |
| HP:0009110 | Diaphragmatic eventration | |
| HP:0100660 | Dyskinesia | |
| HP:0001332 | Dystonia | |
| HP:0003700 | Generalized amyotrophy | |
| HP:0000821 | Hypothyroidism | |
| HP:0002061 | Lower limb spasticity | |
| HP:0001324 | Muscle weakness | |
| HP:0001319 | Neonatal hypotonia | |
| HP:0008762 | Repetitive compulsive behavior | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 16055927[PMID]_25691889[PMID]_27928778[PMID]_22797137[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/66634
- This record as JSON: /data/d/66634.json