ORPHA:139512
Neuropathy with hearing impairment
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult
- Status
- active
This syndrome is characterized by the association of sensorineural hearing impairment and peripheral neuropathy.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Neuropathy with hearing impairment | |
| fr | Neuropathie avec trouble de l'audition | |
| de | Neuropathie mit Schwerhörigkeit | |
| es | Neuropatía con discapacidad auditiva | |
| it | Neuropatia con deficit uditivo | |
| nl | Neuropathie met gehoorverlies | |
| pt | Neuropatia com diminuição da acuidade auditiva | |
| pl | Neuropatia z upośledzeniem słuchu | |
| cs | Neuropatie s poruchou sluchu | |
| uk | Невропатія з порушенням слуху | |
| zh | 伴有听力障碍的神经病变 | |
| tr | İşitme engelliliği ile seyreden nöropati |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | G60.8 | NTBT | attributed | validated |
| ICD-11 | LD2H.1 | E | specific | validated |
| MONDO | 0015351 | E | validated | |
| UMLS | C4509933 | E | validated | |
| GARD | 19919 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
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.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GJB3 | Disease-causing germline mutation(s) in | Assessed | HGNC:4285 | ENSG00000188910 | 603324 | 1p34.3 | gap junction protein beta 3 | 11309368[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 1 families | Worldwide | Family(ies) | Validated | 11309368[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_11309368[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.
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/139512
- This record as JSON: /data/d/139512.json