ORPHA:700508
Distal muscle weakness-foot deformity-elevated sorbitol level-hereditary motor neuropathy
Synonyms: Sorbitol dehydrogenase deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Distal muscle weakness-foot deformity-elevated sorbitol level-hereditary motor neuropathy | Sorbitol dehydrogenase deficiency |
| fr | Faiblesse musculaire distale-déformation du pied-niveau élevé de sorbitol-neuropathie motrice héréditaire | Déficit en sorbitol dehydrogenase |
| de | Distale Muskelschwäche mit Fußfehlbildung, erhöhtem Sorbitolspiegel und hereditärer motorischer Neuropathie | Neuropathie, distale hereditäre motorische, autosomal-rezessive, 8 · Sorbitol-Dehydrogenase-Mangel |
| es | Neuropatía motora hereditaria con debilidad muscular distal-deformidad del pie-elevación de sorbitol | Deficiencia de SORD · Deficiencia de sorbitol deshidrogenasa |
| it | Debolezza muscolare distale-deformità dei piedi-livelli elevati di sorbitolo-neuropatia motoria ereditaria | Deficit di sorbitolo deidrogenasi |
| nl | Distale spierzwakte - voetmisvorming - verhoogd sorbitolgehalte - hereditaire motorische neuropathie | Deficiëntie van sorbitoldehydrogenase |
| pt | Distal muscle weakness-foot deformity-elevated sorbitol level-hereditary motor neuropathy | |
| pl | Distal muscle weakness-foot deformity-elevated sorbitol level-hereditary motor neuropathy | = en |
| cs | Distal muscle weakness-foot deformity-elevated sorbitol level-hereditary motor neuropathy | = en |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 618912 | 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:91024Autosomal recessive axonal hereditary motor and sensory neuropathy
rare genetic diseases; rare neurological diseases - ORPHA:140468Autosomal recessive distal hereditary motor neuropathy
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 |
|---|---|---|---|---|---|---|---|---|
| SORD | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:11184 | ENSG00000140263 | 182500 | 15q21.1 | sorbitol dehydrogenase | 32367058[PMID]_36943151[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | 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.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/700508
- This record as JSON: /data/d/700508.json