Mitchell Syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Status
- active
A rare genetic neurological disorder characterized by childhood to adolescence onset of progressive demyelination occurring in episodes, sensorimotor polyneuropathy, and hearing loss. Disease progression and severity is variable. In general, in a waxing and waning course, patients eventually develop respiratory insufficiency, loss of motor skills and ambulation, ataxia, and cognitive decline. Vision problems and skin rashes are commonly reported.
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Mitchell Syndrome | |
| fr | Syndrome de Mitchell | |
| de | Mitchell-Syndrom | |
| es | Síndrome de Mitchell | |
| it | Sindrome di Mitchell | |
| nl | Syndroom van Mitchell | |
| pt | Síndrome Mitchell | |
| pl | Zespół Mitchella | |
| cs | Mitchellův syndrom | |
| uk | Синдром Мітчелла |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 618960 | E | validated | |
| ICD-10 | G60.8 | NTBT | attributed | validated |
| MONDO | 0030073 | E | validated | |
| UMLS | C5394554 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:140453Autosomal dominant hereditary demyelinating motor and sensory neuropathy
rare genetic diseases; rare neurological diseases - ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ACOX1 | Disease-causing germline mutation(s) in | Assessed | HGNC:119 | ENSG00000161533 | 609751 | 17q25.1 | acyl-CoA oxidase 1 | 32169171[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 15 cases | Worldwide | Case(s) | Validated | 32169171[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 32169171[PMID] _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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/631248
- This record as JSON: /data/d/631248.json