ORPHA:664511
Early-onset severe Hermansky-Pudlak syndrome with hearing loss, due to AP3D1 deficiency
Synonyms: Early-onset severe Hermansky-Pudlak syndrome with deafness · Early-onset severe Hermansky-Pudlak syndrome with hearing loss due to adaptator related protein complex 3 subunit delta 1 deficiency · Early-onset severe Hermansky-Pudlak syndrome with neutropenia and hearing loss due to AP3D1 deficiency · HPS10 · Hermansky-Pudlak syndrome type 10
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Status
- active
This disease is described under Hermansky-Pudlak syndrome due to AP-3 deficiency
1
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Early-onset severe Hermansky-Pudlak syndrome with hearing loss, due to AP3D1 deficiency | Early-onset severe Hermansky-Pudlak syndrome with deafness · Early-onset severe Hermansky-Pudlak syndrome with hearing loss due to adaptator related protein complex 3 subunit delta 1 deficiency · Early-onset severe Hermansky-Pudlak syndrome with neutropenia and hearing loss due to AP3D1 deficiency · HPS10 · Hermansky-Pudlak syndrome type 10 |
| fr | Syndrome de Hermansky-Pudlak sévère à début précoce avec surdité par déficit en AP3D1 | HPS10 · SHP10 · Syndrome de Hermansky-Pudlak avec neutropénie et surdité par déficit en AP3D1 · Syndrome de Hermansky-Pudlak sévère à début précoce avec surdité par déficit en protéine adaptator-related protein complex 3 subunit delta1 |
| de | Früh einsetzendes schweres Hermansky-Pudlak-Syndrom mit Hörverlust durch AP3D1-Genmutation | Früh einsetzendes schweres Hermansky-Pudlak-Syndrom mit Neutropenie und Hörverlust durch AP3D1-Genmutation · Früh einsetzendes schweres Hermansky-Pudlak-Syndrom mit Schwerhörigkeit · HSP10 · Hermansky-Pudlak-Syndrom Typ 10 · Hermansky-Pudlak-Syndrom aufgrund eines Mangels der delta 1-Untereinheit des Adaptorprotein-Komplex 3 |
| es | Síndrome de Hermansky-Pudlak grave de inicio precoz con hipoacusia por deficiencia de AP3D1 | HSP10 · Síndrome de Hermansky-Pudlak grave de inicio precoz con hipoacusia por deficiencia de la subunidad delta 1 del complejo adaptador 3 · Síndrome de Hermansky-Pudlak grave de inicio precoz con neutropenia e hipoacusia por deficiencia de AP3D1 · Síndrome de Hermansky-Pudlak grave de inicio precoz con sordera · Síndrome de Hermansky-Pudlak tipo 10 |
| it | Sindrome di Hermansky-Pudlak grave ad esordio precoce con sordità da deficit di AP3D1 | Sindrome di Hermansky-Pudlak grave ad esordio precoce con neutropenia e sordità da deficit di AP3D1 · Sindrome di Hermansky-Pudlak grave ad esordio precoce con sordità · Sindrome di Hermansky-Pudlak grave ad esordio precoce con sordità da deficit della subunità delta 1 del complesso 3 della proteina correlata all'adattatore · SHP10 · Sindrome di Hermansky-Pudlak grave ad esordio precoce con neutropenia e sordità da deficit di AP3D1 · Sindrome di Hermansky-Pudlak grave ad esordio precoce con sordità · Sindrome di Hermansky-Pudlak grave ad esordio precoce con sordità da deficit della subunità delta 1 del complesso 3 della proteina correlata all'adattatore · Sindrome di Hermansky-Pudlak tipo 10 |
| nl | Vroeg optredend ernstig syndroom van Hermansky-Pudlak met gehoorverlies door AP3D1-deficiëntie | HSP10 · Syndroom van Hermansky-Pudlak type 10 · Vroeg optredend ernstig syndroom van Hermansky-Pudlak met doofheid · Vroeg optredend ernstig syndroom van Hermansky-Pudlak met gehoorverlies door deficiëntie van adaptatorgerelateerd proteïnecomplex 3 subeenheid delta 1 · Vroeg optredend ernstig syndroom van Hermansky-Pudlak met neutropenie en gehoorverlies door AP3D1-deficiëntie |
| pt | Síndrome Hermansky-Pudlak grave de início precoce com perda auditiva, devido a deficiência AP3D1 | Síndrome Hermansky-Pudlak grave de início precoce com neutropenia e perda auditiva por deficiência AP3D1 · Síndrome Hermansky-Pudlak grave de início precoce com perda auditiva devido ao adaptador relacionado com a subunidade beta1 do complexo proteico 3 · Síndrome Hermansky-Pudlak grave de início precoce com surdez · Síndrome Hermansky-Pudlak tipo 10 · HSP10 |
| pl | Ciężki zespół Hermansky'ego-Pudlaka o wczesnym początku z utratą słuchu spowodowany niedoborem AP3D1 | = en |
| cs | Závažná forma Heřmanského-Pudlákova syndromu s časným nástupem a se ztrátou sluchu způsobená deficitem AP3D1 | = en |
| uk | Синдром Германського-Пудлака з раннім початком і втратою слуху, зумовлений дефіцитом AP3D1 | Синдром Германського-Пудлака з глухотою, що починається на ранніх стадіях і супроводжується глухотою · Ранній початок тяжкого синдрому Германського-Пудлака з втратою слуху внаслідок дефіциту адаптерного білкового комплексу 3 субодиниці дельта 1 · Ранній важкий синдром Германського-Пудлака з нейтропенією та втратою слуху внаслідок дефіциту AP3D1 · Синдром Германського-Пудлака, тип 10 · HPS10 |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 0014885 | E | validated | |
| UMLS | C4310746 | 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:183678Hermansky-Pudlak syndrome due to AP-3 deficiency
rare inborn errors of metabolism; rare gastroenterological diseases; rare genetic diseases; rare skin diseases; rare ophthalmic disorders; rare hematological diseases; rare immunological diseases; rare transplant-related disorders - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
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 |
|---|---|---|---|---|---|---|---|---|
| AP3D1 | Disease-causing germline mutation(s) in | Assessed | HGNC:568 | ENSG00000065000 | 607246 | 19p13.3 | adaptor related protein complex 3 subunit delta 1 | 36445457[PMID] |
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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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/664511
- This record as JSON: /data/d/664511.json