ORPHA:140481
Autosomal dominant slowed nerve conduction velocity
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult
- Status
- active
A rare hereditary demyelinating motor and sensory neuropathy characterized by slowed nerve conduction velocities, in the absence of clinically apparent neurological deficits, gait abnormalities or muscular atrophy, associated with a germline mutation in the <i>ARGHEF10</i> gene.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal dominant slowed nerve conduction velocity | |
| fr | Ralentissement de la vitesse de conduction nerveuse, forme autosomique dominante | |
| de | Verlangsamte Nervenleitgeschwindigkeit, autosomal-dominante | |
| es | Velocidad de conducción nerviosa enlentecida autosómica dominante | |
| it | Rallentamento della velocità di conduzione nervosa, autosomico dominante | |
| nl | Autosomaal dominante vertraagde zenuwgeleidingssnelheid | |
| pt | Velocidade da condução nervosa reduzida autossómica dominante | |
| pl | Autosomalna dominująca zwolniona prędkość przewodzenia nerwowego | |
| cs | Autozomálně dominantně dědičná zpomalená rychlost vedení nervem | |
| uk | Аутосомно-домінантна сповільнена швидкість нервової провідності | |
| zh | 常染色体显性遗传神经传导速度减缓 | |
| tr | Otozomal dominant yavaşlayan sinir iletim hızı |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 608236 | E | validated | |
| ICD-10 | G60.0 | NTBT | attributed | validated |
| MONDO | 0011998 | E | validated | |
| MeSH | C564269 | E | validated | |
| UMLS | C1842357 | 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 (1):
- ORPHA:140453Autosomal dominant hereditary demyelinating motor and sensory 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 |
|---|---|---|---|---|---|---|---|---|
| ARHGEF10 | Disease-causing germline mutation(s) in | Assessed | HGNC:14103 | ENSG00000104728 | 608136 | 8p23.3 | Rho guanine nucleotide exchange factor 10 | 14508709[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 1 families | Worldwide | Family(ies) | Validated | 9678704[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_9678704[PMID] |
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
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/140481
- This record as JSON: /data/d/140481.json