ORPHA:324525
Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation
Synonyms: Hypertrophic cardiomyopathy with kidney anomalies due to mtDNA mutation · Hypertrophic cardiomyopathy with renal anomalies due to mitochondrial DNA mutation
- Type
- Disease
- Group
- Disorder
- Inheritance
- No data available
- Age of onset
- Infancy, Neonatal
- Status
- active
A mitochondrial oxidative phosphorylation disorder characterized by hypertrophic and dilated cardiomyopathy, failure to thrive, myopathy with generalized hypotonia and increased creatine kinase, developmental delay and/or regression with cerebral atrophy on brain MRI, renal manifestations including chronic renal failure, renal tubular acidosis and lactic acidosis. Additional clinical features include seizures and respiratory failure.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation | Hypertrophic cardiomyopathy with kidney anomalies due to mtDNA mutation · Hypertrophic cardiomyopathy with renal anomalies due to mitochondrial DNA mutation |
| fr | Cardiomyopathie hypertrophique avec anomalies rénales dues à une mutation de l'ADN mitochondrial | Cardiomyopathie hypertrophique avec anomalies rénales dues à une mutation de l'ADNmt |
| de | Hypertrophe Kardiomyopathie mit Nierenanomalien durch mitochondriale DNA-Mutation | Hypertrophe Kardiomyopathie mit renalen Anomalien durch mtDNA-Mutation |
| es | Miocardiopatía hipertrófica con anomalías renales por mutación del ADN mitocondrial | Miocardiopatía hipertrófica con anomalías renales por mutación del ADNmt |
| it | Cardiomiopatia ipertrofica con anomalie renali da mutazione del DNA mitocondriale | Cardiomiopatia ipertrofica con anomalie dei reni da mutazione del DNA mitocondriale · Cardiomiopatia ipertrofica con anomalie renali da mutazione del mtDNA |
| nl | Hypertrofische cardiomyopathie met nieranomalieën door mutatie van mitochondriaal DNA | Hypertrofische cardiomyopathie met nieranomalieën door mtDNA-mutatie · Hypertrofische cardiomyopathie met renale anomalieën door mutatie van mitochondriaal DNA |
| pt | Miocardiopatia hipertrófica com anomalias renais devido a mutação de ADN mitocondrial | Miocardiopatia hipertrófica com anomalias renais devido a mutação no ADNmt |
| pl | Kardiomiopatia przerostowa i choroba kanalików nerkowych spowodowana mutacjami mitochondrialnego DNA | Kardiomiopatia przerostowa i choroba kanalików nerkowych z powodu mutacji mtDNA · Kardiomiopatia przerostowa z wadami nerek wskutek mutacji w mitochondrialnym DNA |
| cs | Hypertrofická kardiomyopatie a renální tubulární nemoc způsobená mutací mitochondriální DNA | Hypertrofická kardiomyopatie a renální tubulární nemoc způsobená mutací mtDNA |
| uk | Гіпертрофічна кардіоміопатія з аномаліями нирок, зумовлена мутацією мітохондріальної ДНК | Гіпертрофічна кардіоміопатія з аномаліями нирок внаслідок мутації мтДНК · Гіпертрофічна кардіоміопатія з нирковими аномаліями внаслідок мутації мітохондріальної ДНК |
| zh | 线粒体DNA突变所致肥厚型心肌病和肾小管性疾病 | mtDNA突变所致肥厚型心肌病和肾小管性疾病 |
| tr | Mitokondriyal DNA mutasyonuna bağlı hipertrofik kardiyomiyopati ve renal tübüler hastalık | MtDNA mutasyonuna bağlı hipertrofik kardiyomiyopati ve renal tübüler hastalık |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | E88.8 | NTBT | attributed | validated |
| ICD-11 | 5C53.2Y | NTBT | attributed | validated |
| MONDO | 0017933 | E | validated | |
| UMLS | C4749942 | 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 (5):
- ORPHA:183592Genetic renal tubular disease
rare genetic diseases - ORPHA:217587Mitochondrial disease with hypertrophic cardiomyopathy
rare cardiac diseases; rare genetic diseases; rare transplant-related disorders - ORPHA:254776Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA
rare inborn errors of metabolism; rare genetic diseases - ORPHA:93593Nephropathy secondary to a storage or other metabolic disease
rare genetic diseases; rare renal diseases - ORPHA:93603Rare renal tubular disease
rare renal diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MT-TL1 | Disease-causing germline mutation(s) in | Assessed | HGNC:7490 | ENSG00000209082 | 590050 | mitochondria | mitochondrially encoded tRNA-Leu (UUA/G) 1 | 22781753[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 22781753[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | 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
20 annotations · validated 2023-02-08| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0001638 | Cardiomyopathy | |
| HP:0002059 | Cerebral atrophy | |
| HP:0012622 | Chronic kidney disease | |
| HP:0011923 | Decreased activity of mitochondrial complex I | |
| HP:0003236 | Elevated circulating creatine kinase concentration | |
| HP:0001508 | Failure to thrive | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0008947 | Floppy infant | |
| HP:0001263 | Global developmental delay | |
| HP:0002151 | Increased circulating lactate concentration | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0002093 | Respiratory insufficiency | |
| Occasional (29-5%) | ||
| HP:0003535 | 3-Methylglutaconic aciduria | |
| HP:0011924 | Decreased activity of mitochondrial complex III | |
| HP:0003348 | Hyperalaninemia | |
| HP:0002521 | Hypsarrhythmia | |
| HP:0002490 | Increased CSF lactate | |
| HP:0001947 | Renal tubular acidosis | |
| HP:0001250 | Seizure | |
| HP:0004322 | Short stature | |
Annotation source: 22781753[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/324525
- This record as JSON: /data/d/324525.json