Progressive autosomal recessive ataxia-deafness syndrome
Synonyms: Lichtenstein-Knorr syndrome · Progressive autosomal recessive ataxia-sensorineural hearing loss syndrome · SCAR19
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Childhood, Infancy
- Status
- active
A rare genetic disease characterized by severe progressive sensorineural hearing loss and progressive cerebellar signs including gait ataxia, action tremor, dysmetria, dysdiadochokinesis, dysarthria, and nystagmus. Absence of deep tendon reflexes has also been reported. Age of onset is between infancy and adolescence. Brain imaging may show variable cerebellar atrophy in some patients.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Progressive autosomal recessive ataxia-deafness syndrome | Lichtenstein-Knorr syndrome · Progressive autosomal recessive ataxia-sensorineural hearing loss syndrome · SCAR19 |
| fr | Syndrome d'ataxie progressive-surdité autosomique récessive | Ataxie spinocérébelleuse autosomique récessive type 19 · SCAR19 · Syndrome Lichtenstein-Knorr · Syndrome d'ataxie progressive-surdité neurosensorielle autosomique récessive |
| de | Ataxie-Taubheit-Syndrom, progressives, autosomal-rezessives | Ataxie, spinozerebelläre, autosomal-rezessive, Typ 19 · Lichtenstein-Knorr-Syndrom · Progressive autosomal-rezessive Ataxie-sensorineuraler Hörverlust-Syndrom · SCAR19 |
| es | Síndrome de ataxia progresiva-sordera autosómico recesivo | Ataxia espinocerebelosa autosómica recesiva tipo 19 · SCAR19 · Síndrome de Lichtenstein-Knorr · Síndrome de ataxia progresiva-hipoacusia autosómico recesivo |
| it | Sindrome atassia progressiva-sordità autosomica recessiva | Atassia spinocerebellare autosomica recessiva 19 · SCAR19 · Sindrome atassia progressiva-sordità neurosensoriale, autosomica recessiva · Sindrome di Lichtenstein-Knorr |
| nl | Progressieve autosomaal recessieve ataxie - doofheid-syndroom | Autosomaal recessieve spinocerebellaire ataxie type 19 · Lichtenstein-Knorrsyndroom · Progressieve autosomaal recessieve ataxie - sensorineuraal gehoorverlies-syndroom · SCAR19 |
| pt | Síndrome com ataxia progressiva autossómica recessiva - surdez | |
| pl | Zespół postępującej autosomalnej recesywnej ataksji i głuchoty | Autosomalna recesywna ataksja rdzeniowo-móżdżkowa 19 · SCAR19 · Zespół Lichtensteina i Knorra · Zespół postępującej autosomalnej recesywnej ataksji i czuciowo-nerwowej utraty słuchu |
| cs | Syndrom zahrnující progresivní autozomálně recesivní ataxii a hluchotu | SCAR19 · Lichtensteinův-Knorrův syndrom · Syndrom zahrnující progresivní autozomálně recesivní ataxii a sensorineurální ztrátu sluchu · Lichtenstein-Knorrův syndrom |
| uk | Прогресуючий аутосомно-рецесивний синдром атаксії-глухоти | Синдром Ліхтенштейна-Кнорра · Прогресуючий аутосомно-рецесивний синдром сенсоневральної приглухуватості з атаксиєю · SCAR19 |
| zh | 进行性常染色体隐性共济失调-耳聋综合征 | 进行性常染色体隐性共济失调-感音神经性听力损伤综合征 |
| tr | İlerleyici otozomal resesif ataksi-sağırlık sendromu | SCAR19 · Lichtenstein-Knorr sendromu · İlerleyici otozomal çekinik ataksi-sensörinöral işitme kaybı sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616291 | E | validated | |
| ICD-10 | G11.1 | NTBT | attributed | validated |
| MONDO | 0014572 | E | validated | |
| UMLS | C4225383 | 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 (1):
- 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 |
|---|---|---|---|---|---|---|---|---|
| SLC9A1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:11071 | ENSG00000090020 | 107310 | 1p36.11 | solute carrier family 9 member A1 | 25205112[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_3739762[PMID]_25205112[PMID]_3465984[PMID]_2603781[PMID] |
| Cases/families | 13 cases | Worldwide | Case(s) | Validated | 3739762[PMID]_25205112[PMID]_3465984[PMID]_2603781[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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/448251
- This record as JSON: /data/d/448251.json