COQ7-related distal hereditary motor neuropathy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Status
- active
A rare autosomal recessive distal hereditary motor neuropathy characterized by severe, slowly progressive, symmetric distal muscle weakness and atrophy of the limbs predominantly due to length-dependent peripheral motor neuropathy. Both the lower and upper limbs are affected, with a lower-limb predominance at onset. Patients present with walking difficulties and frequent falls. Pes cavus may also be present. Sensory abnormalities are usually absent, or mild when present.
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | COQ7-related distal hereditary motor neuropathy | |
| fr | Neuropathie motrice distale héréditaire associée à COQ7 | |
| de | Neuropathie, distale hereditäre motorische, COQ7-assoziierte | |
| es | Neuropatía motora distal hereditaria asociada a COQ7 | |
| it | Neuropatia motoria distale ereditaria correlata a COQ7 | |
| nl | COQ7-gerelateerde distale hereditaire motorische neuropathie | |
| pt | Neuropatia motora distal hereditária COQ7-relacionada | |
| pl | Dystalna dziedziczna neuropatia ruchowa związana z COQ7 | |
| cs | Distální hereditární motorická neuropatie související s COQ7 | |
| uk | COQ7-залежна дистальна спадкова моторна нейропатія |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 620402 | E | validated | |
| ICD-10 | G12.2 | NTBT | attributed | validated |
| ICD-11 | 5C53.2Y | NTBT | attributed | validated |
| MONDO | 0958129 | E | validated | |
| MONDO | 958129 | E | validated | |
| UMLS | C5925143 | 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:140468Autosomal recessive distal hereditary motor neuropathy
rare genetic diseases; rare neurological diseases - ORPHA:35656Coenzyme Q10 deficiency
rare inborn errors of metabolism; rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| COQ7 | Disease-causing germline mutation(s) in | Assessed | HGNC:2244 | ENSG00000167186 | 601683 | 16p12.3 | coenzyme Q7, hydroxylase | 37077559[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 12 cases | Worldwide | Case(s) | Validated | 36454683[PMID]_37077559[PMID]_36758993[PMID]_37392700[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 36454683[PMID]_37077559[PMID]_36758993[PMID]_37392700[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/658778
- This record as JSON: /data/d/658778.json