ORPHA:94125
Recessive mitochondrial ataxia syndrome
Synonyms: MIRAS
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Childhood
- Status
- active
A rare, mitochondrial DNA maintenance syndrome characterized by early-onset cerebellar ataxia, and variable combination of epilepsy, headache, dysarthria, ophthalmoplegia, peripheral neuropathy, intellectual disability, psychiatric symptoms and movement disorders.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Recessive mitochondrial ataxia syndrome | MIRAS |
| fr | Syndrome d'ataxie mitochondriale récessive | = en |
| de | Ataxie-Syndrom, mitochondriales rezessives | = en |
| es | Síndrome de ataxia mitocondrial recesiva | |
| it | Sindrome atassica mitocondriale recessiva | = en |
| nl | Recessief mitochondriaal ataxiesyndroom | = en |
| pt | Síndrome de ataxia mitocondrial, recessiva | |
| pl | Zespół recesywnej ataksji mitochondrialnej | = en |
| cs | Syndrom recesivní mitochondriální ataxie | = en |
| uk | Синдром рецесивної мітохондріальної атаксії | = en |
| zh | 隐性线粒体共济失调综合征 | = en |
| tr | Resesif mitokondriyal ataksi sendromu | = en |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | G11.8 | NTBT | attributed | validated |
| ICD-11 | 5C53.21 | NTBT | index | validated |
| MONDO | 0019791 | E | validated | |
| UMLS | C4760799 | 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 (3):
- ORPHA:254818Ataxia neuropathy spectrum
rare inborn errors of metabolism; rare genetic diseases - ORPHA:98096Autosomal recessive metabolic cerebellar ataxia
rare genetic diseases; rare neurological diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| POLG | Disease-causing germline mutation(s) in | Assessed | HGNC:9179 | ENSG00000140521 | 174763 | 15q26.1 | DNA polymerase gamma, catalytic subunit | 15824347[PMID] |
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Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
22 annotations · validated 2018-05-15| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0012079 | Abnormality of central motor conduction | |
| HP:0100022 | Abnormality of movement | |
| HP:0001284 | Areflexia | |
| HP:0001251 | Ataxia | |
| HP:0000708 | Atypical behavior | |
| HP:0100543 | Cognitive impairment | |
| HP:0001310 | Dysmetria | |
| HP:0002015 | Dysphagia | |
| HP:0001288 | Gait disturbance | |
| HP:0001290 | Generalized hypotonia | |
| HP:0000872 | Hashimoto thyroiditis | |
| HP:0002315 | Headache | |
| HP:0002495 | Impaired vibratory sensation | |
| HP:0003542 | Increased circulating pyruvate concentration | |
| HP:0002406 | Limb dysmetria | |
| HP:0000602 | Ophthalmoplegia | |
| HP:0009830 | Peripheral neuropathy | |
| HP:0002403 | Positive Romberg sign | |
| HP:0012251 | ST segment elevation | |
| HP:0001250 | Seizure | |
| HP:0003390 | Sensory axonal neuropathy | |
| Occasional (29-5%) | ||
| HP:0001260 | Dysarthria | |
Annotation source: 25586537[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/94125
- This record as JSON: /data/d/94125.json