ORPHA:551
MERRF
Synonyms: Fukuhara syndrome · Myoclonus epilepsy associated with ragged-red fibres
- Type
- Disease
- Group
- Disorder
- Inheritance
- Mitochondrial inheritance
- Age of onset
- Adult, Childhood
- Status
- active
A rare mitochondrial oxidative phosphorylation disorder characterized by myoclonic seizures, ataxia, generalized epilepsy, muscle weakness and ragged red fibers in the muscle biopsy.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | MERRF | Fukuhara syndrome · Myoclonus epilepsy associated with ragged-red fibres |
| fr | MERRF | Epilepsie myoclonique avec "ragged-red-fibers" · Epilepsie myoclonique à fibres rouges en lambeaux · Syndrome de Fukuhara |
| de | MERRF | Fukuhara-Syndrom · MERRF-Syndrom · Myoklonusepilepsie mit 'ragged-red-fibers' |
| es | MERRF | Epilepsia mioclónica asociada con fibras rojas rasgadas · Síndrome de Fukuhara |
| it | MERRF | Epilessia mioclonica con fibre rosse sfilacciate · Sindrome di Fukuhara |
| nl | MERRF | Myoclonische epilepsie met rafelige rode vezels · Myoclonusepilepsie met ragged red fibers · Syndroom van Fukuhara |
| pt | MERRF | Epilépsia mioclónica associada a fibras vermelhas · Síndrome Fukuhara |
| pl | MERRF | Padaczka miokloniczna z nieprawidłowymi czerwonymi włóknami mięśniowymi · Zespół Fukuhara |
| cs | MERRF | Fukuharův syndrom · Myoklonická epilepsie s potrhanými červenými vlákny |
| uk | MERRF | Синдром Фукухари · Міоклонусна епілепсія, повязана з рваними червоними волокнами |
| zh | 肌阵挛性癫痫伴破碎红纤维综合征 | 肌阵挛性癫痫伴碎红纤维 |
| tr | MERRF | Fukuhara sendromu · Düzensiz kırmızı liflerle ilişkili miyoklonus epilepsisi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 545000 | E | validated | |
| ICD-10 | G71.3 | NTBT | attributed | validated |
| ICD-11 | 8C73.Y | NTBT | index | validated |
| MONDO | 0010790 | E | validated | |
| MeSH | D017243 | E | validated | |
| UMLS | C0162672 | E | validated | |
| GARD | 7144 | E | validated | |
| MedDRA | 10069825 | 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 (9):
- ORPHA:217613Mitochondrial disease with dilated cardiomyopathy
rare cardiac diseases; rare genetic diseases; rare transplant-related disorders - ORPHA:225700Mitochondrial disease with epilepsy
rare genetic diseases; rare neurological diseases - ORPHA:217587Mitochondrial disease with hypertrophic cardiomyopathy
rare cardiac diseases; rare genetic diseases; rare transplant-related disorders - ORPHA:225703Mitochondrial disease with peripheral neuropathy
rare genetic diseases; rare neurological diseases - ORPHA:206966Mitochondrial myopathy
rare genetic diseases; rare neurological diseases - ORPHA:254776Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA
rare inborn errors of metabolism; rare genetic diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases - ORPHA:98261Progressive myoclonic epilepsy
rare genetic diseases; rare neurological diseases - ORPHA:441434Syndromic hereditary optic neuropathy
rare genetic diseases; rare ophthalmic disorders
No children.
4
Genes
10 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MT-RNR1 | Candidate gene tested in | Not yet assessed | HGNC:7470 | ENSG00000211459 | 561000 | mitochondria | mitochondrially encoded 12S rRNA | |
| MT-TQ | Candidate gene tested in | Not yet assessed | HGNC:7495 | ENSG00000210107 | 590030 | mitochondria | mitochondrially encoded tRNA-Gln (CAA/G) | 23179085[PMID] |
| MT-TS2 | Candidate gene tested in | Not yet assessed | HGNC:7498 | ENSG00000210184 | 590085 | mitochondria | mitochondrially encoded tRNA-Ser (AGU/C) 2 | 16950817[PMID] |
| MT-ND5 | Disease-causing germline mutation(s) in | Assessed | HGNC:7461 | ENSG00000198786 | 516005 | mitochondria | mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | |
| MT-TF | Disease-causing germline mutation(s) in | Assessed | HGNC:7481 | ENSG00000210049 | 590070 | mitochondria | mitochondrially encoded tRNA-Phe (UUU/C) | 15184630[PMID] |
| MT-TH | Disease-causing germline mutation(s) in | Assessed | HGNC:7487 | ENSG00000210176 | 590040 | mitochondria | mitochondrially encoded tRNA-His (CAU/C) | 14967777[PMID] |
| MT-TK | Disease-causing germline mutation(s) in | Assessed | HGNC:7489 | ENSG00000210156 | 590060 | mitochondria | mitochondrially encoded tRNA-Lys (AAA/G) | 20301693[PMID] |
| MT-TL1 | Disease-causing germline mutation(s) in | Assessed | HGNC:7490 | ENSG00000209082 | 590050 | mitochondria | mitochondrially encoded tRNA-Leu (UUA/G) 1 | 8254046[PMID] |
| MT-TP | Disease-causing germline mutation(s) in | Assessed | HGNC:7494 | ENSG00000210196 | 590075 | mitochondria | mitochondrially encoded tRNA-Pro (CCN) | 19273760[PMID]_27816331[PMID] |
| MT-TS1 | Disease-causing germline mutation(s) in | Assessed | HGNC:7497 | ENSG00000210151 | 590080 | mitochondria | mitochondrially encoded tRNA-Ser (UCN) 1 | 7669057[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.494 / 100 000 | Sweden | Value and class | Validated | 11261513[PMID] |
| Point prevalence | Unknown | — | Europe | 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
11 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0100022 | Abnormality of movement | |
| HP:0001251 | Ataxia | |
| HP:0003457 | EMG abnormality | |
| HP:0002123 | Generalized myoclonic seizure | |
| HP:0003198 | Myopathy | |
| HP:0003200 | Ragged-red muscle fibers | |
| HP:0000407 | Sensorineural hearing impairment | |
| Frequent (79-30%) | ||
| HP:0100543 | Cognitive impairment | |
| HP:0001012 | Multiple lipomas | |
| HP:0000648 | Optic atrophy | |
| HP:0004322 | Short stature | |
Run the differential on the 7 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/551
- This record as JSON: /data/d/551.json