Adult-onset progressive leukoencephalopathy-early-onset deafness
Synonyms: Adult-onset progressive leukoencephalopathy-early-onset hearing loss
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adult
- Status
- active
A rare genetic neurological disorder characterized by congenital or early-onset sensorineural deafness and adult-onset progressive leukoencephalopathy. Progressive cognitive impairment and behavioral abnormalities are observed in the second or third decade of life, sometimes preceded by mild developmental delay and learning difficulties. Visual impairment in adult age has been reported. No central nervous system calcification is reported.
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Adult-onset progressive leukoencephalopathy-early-onset deafness | Adult-onset progressive leukoencephalopathy-early-onset hearing loss |
| fr | Leucoencéphalopathie progressive de l'adulte-surdité à début précoce | Leucoencéphalopathie progressive de l'adulte-perte auditive à début précoce |
| de | Kongenitale Schwerhörigkeit und fortschreitende Leukoenzephalopathie im Erwachsenenalter | DEAPLE · Kongenitale Taubheit und progrediente Leukenzephalopathie im Erwachsenenalter |
| es | Sordera de inicio precoz-leucoencefalopatía progresiva de inicio en el adulto | Hipoacusia de inicio precoz-leucoencefalopatía progresiva de inicio en el adulto |
| it | Leucoencefalopatia progressiva ad esordio nell'età adulta-sordità ad esordio precoce | Leucoencefalopatia progressiva ad esordio nell'età adulta-perdita dell'udito ad esordio precoce |
| nl | In volwassenheid optredende progressieve leuko-encefalopathie - vroeg optredende doofheid | In volwassenheid optredende progressieve leuko-encefalopathie - vroeg optredend gehoorverlies |
| pt | Leucoencefalopatia progressiva de início na idade adulta-surdez de início precoce | Leucoencefalopatia progressiva de início precoce com perda auditiva na idade adulta |
| pl | Wrodzona głuchota - postępująca leukoencefalopatia o początku w wieku dorosłym | = en |
| cs | Progresivní leukoencefalopatie a časná hluchota s nástupem v dospělosti | = en |
| uk | Прогресуюча доросла лейкоенцефалопатія з ранньою глухотою | Прогресуюча лейкоенцефалопатія у дорослих - рання втрата слуху |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 619196 | E | validated | |
| ICD-10 | G37.8 | NTBT | attributed | validated |
| MONDO | 0958094 | E | validated | |
| MONDO | 958094 | E | validated | |
| UMLS | C5921954 | 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:68356Leukodystrophy
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 |
|---|---|---|---|---|---|---|---|---|
| KARS1 | Disease-causing germline mutation(s) in | Assessed | HGNC:6215 | ENSG00000065427 | 601421 | 16q23.1 | lysyl-tRNA synthetase 1 | 28887846[PMID]_30737337[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 8 cases | Worldwide | Case(s) | Validated | 28887846[PMID]_30737337[PMID]_31116475[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 28887846[PMID]_30737337[PMID]_31116475[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/652532
- This record as JSON: /data/d/652532.json