ORPHA:1349
Mitochondrial DNA-related cardiomyopathy and hearing loss
Synonyms: Maternally-inherited cardiomyopathy and deafness · mtDNA-related cardiomyopathy and deafness · mtDNA-related cardiomyopathy and hearing loss · tRNA-LYS-related cardiomyopathy-hearing loss syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Mitochondrial inheritance
- Age of onset
- Adult, Childhood
- Status
- active
A rare mitochondrial disease that has a heterogeneous clinical presentation characterized by the association of progressive sensorineural hearing loss with hypertrophic cardiomyopathy and, in the majority of cases, encephalomyopathy symptoms such as ataxia, slurred speech, progressive external ophthalmoparesis (PEO), muscle weakness, myalgia, and exercise intolerance.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Mitochondrial DNA-related cardiomyopathy and hearing loss | Maternally-inherited cardiomyopathy and deafness · mtDNA-related cardiomyopathy and deafness · mtDNA-related cardiomyopathy and hearing loss · tRNA-LYS-related cardiomyopathy-hearing loss syndrome |
| fr | Cardiomyopathie-surdité dues à une mutation de l'ADN mitochondrial | Cardiomyopathie-surdité de transmission maternelle · Cardiomyopathie-surdité dues à une mutation de l'ADNmt · Syndrome de cardiomyopathie-surdité dû à des mutations du tRNA-LYS |
| de | Mitochondriale DNA-assoziierte Kardiomyopathie mit Hörverlust | Maternal vererbte Kardiomyopathie mit Hörverlust · mtDNA-assoziierte Kardiomyopathie mit Hörverlust · tRNA-LYS-assoziiertes Kardiomyopathie-Hörverlust-Syndrom |
| es | Miocardiopatía e hipoacusia asociada al ADN mitocondrial | Miocardiopatía e hipoacusia asociada al ADNmt · Miocardiopatía y sordera asociada al ADNmt · Miocardiopatía y sordera de herencia materna · Síndrome de miocardiopatía-hipoacusia asociada a ARNt-LYS |
| it | Cardiomiopatia - perdita di udito, a trasmissione materna | Cardiomiopatia - perdita dell'udito, tRNA-LYS-correlate · Cardiomiopatia - sordità, a trasmissione materna |
| nl | Mitochondriaal DNA-gerelateerde cardiomyopathie en gehoorverlies | Maternaal overgeërfde cardiomyopathie en doofheid · mtDNA-gerelateerde cardiomyopathie en gehoorverlies · tRNA-LYS-gerelateerde cardiomyopathie - gehoorverlies-syndroom |
| pt | Miocardiopatia e perda auditiva ADN mitocondrial-relacionadas | Miocardiopatia e surdez ADN mitocondrial-relacionadas · Miocardiopatia-surdez por mutação no gene do tARN da lys |
| pl | Dziedziczona w linii matczynej kardiomiopatia i utrata słuchu | Kardiomiopatia związana z tRNA-LYS - utrata słuchu |
| cs | Maternálně dědičná kardiomyopatie a ztráta sluchu | Syndrom zahrnující tRNA-LYS-vázanou kardiomyopatii a ztrátu sluchu · Maternálně dědičná kardiomyopatie a hluchota |
| uk | Кардіоміопатія, повязана з мітохондріальною ДНК, та втрата слуху | Успадкована по материнській лінії кардіоміопатія та глухота · Кардіоміопатія та глухота, повязані з мтДНК · Кардіоміопатія, повязана з мтДНК, та втрата слуху · tRNA-LYS-асоційована кардіоміопатія - синдром втрати слуху |
| zh | 线粒体DNA相关性心肌病伴听力损失 | tRNA-溶酶体相关心肌病-听力丧失综合征 |
| tr | Mitokondriyal DNA--ilişkili kardiyomiyopati ve işitme kaybı | mtDNA-ilişkili kardiyomiyopati ve sağırlık · mtDNA-ilişkili kardiyomiyopati ve işitme kaybı · Maternal-geçişli kardiyomiyopati ve sağırlık · tRNA-LYS-ilişkili kardiyomiyopati-işitme kaybı sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | E88.8 | NTBT | attributed | validated |
| ICD-11 | 5D0Y | NTBT | attributed | validated |
| MONDO | 0015283 | E | validated | |
| UMLS | C4510409 | 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 (2):
- 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
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MT-TK | Disease-causing germline mutation(s) in | Assessed | HGNC:7489 | ENSG00000210156 | 590060 | mitochondria | mitochondrially encoded tRNA-Lys (AAA/G) | 8651277[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 families | Worldwide | Family(ies) | Validated | 8651277[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_8651277[PMID] |
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
30 annotations · validated 2016-12-08| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001251 | Ataxia | |
| HP:0001288 | Gait disturbance | |
| HP:0001639 | Hypertrophic cardiomyopathy | |
| HP:0011342 | Mild global developmental delay | |
| HP:0001324 | Muscle weakness | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0001350 | Slurred speech | |
| Frequent (79-30%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0001635 | Congestive heart failure | |
| HP:0001644 | Dilated cardiomyopathy | |
| HP:0002094 | Dyspnea | |
| HP:0003457 | EMG abnormality | |
| HP:0001298 | Encephalopathy | |
| HP:0003546 | Exercise intolerance | |
| HP:0002151 | Increased circulating lactate concentration | |
| HP:0003542 | Increased circulating pyruvate concentration | |
| HP:0012514 | Lower limb pain | |
| HP:0001268 | Mental deterioration | |
| HP:0000597 | Ophthalmoparesis | |
| HP:0000590 | Progressive external ophthalmoplegia | |
| HP:0003200 | Ragged-red muscle fibers | |
| Occasional (29-5%) | ||
| HP:0100749 | Chest pain | |
| HP:0012378 | Fatigue | |
| HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | |
| HP:0001347 | Hyperreflexia | |
| HP:0000822 | Hypertension | |
| HP:0009126 | Increased adipose tissue | |
| HP:0001012 | Multiple lipomas | |
| HP:0003326 | Myalgia | |
| HP:0009830 | Peripheral neuropathy | |
Run the differential on the 7 obligate / very frequent terms
Annotation source: 8651277[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1349
- This record as JSON: /data/d/1349.json