ORPHA:664500

Hermansky-Pudlak syndrome due to AP3B1 deficiency

Synonyms: HPS2 · Hermansky-Pudlak syndrome due to adaptator related protein complex 3 subunit beta1 deficiency · Hermansky-Pudlak syndrome type 2 · Hermansky-Pudlak syndrome with neutropenia due to AP3B1 deficiency

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

Names in Orphadata languages

10 of 12 languages

Lang	Name	Synonyms
en	Hermansky-Pudlak syndrome due to AP3B1 deficiency	HPS2 · Hermansky-Pudlak syndrome due to adaptator related protein complex 3 subunit beta1 deficiency · Hermansky-Pudlak syndrome type 2 · Hermansky-Pudlak syndrome with neutropenia due to AP3B1 deficiency
fr	Syndrome de Hermansky-Pudlak par déficit en AP3B1	HSP2 · SHP2 · Syndrome de Hermansky-Pudlak avec neutropénie par déficit en AP3B1 · Syndrome de Hermansky-Pudlak par déficit en protéine adaptator-related protein complex 3 subunit beta1 · Syndrome de Hermansky-Pudlak type 2
de	Hermansky-Pudlak-Syndrom durch AP3B1-Mangel	HPS2 · Hermansky-Pudlak-Syndrom Typ 2 · Hermansky-Pudlak-Syndrom aufgrund eines Mangels der beta 1-Untereinheit des Adaptorprotein-Komplex 3 · Hermansky-Pudlak-Syndrom mit Neutropenie durch AP3B1-Defizienz
es	Síndrome de Hermansky-Pudlak por deficiencia de AP3B1	HPS2 · Síndrome de Hermansky-Pudlak con neutropenia por deficiencia de AP3B1 · Síndrome de Hermansky-Pudlak por deficiencia de la subunidad beta 1 del complejo adaptador 3 · Síndrome de Hermansky-Pudlak tipo 2
it	Sindrome di Hermansky-Pudlak da deficit di AP3B1	Sindrome di Hermansky-Pudlak da deficit della subunitÃ beta1 del complesso 3 della proteina correlata all'adattatore · SHP2 · Sindrome di Hermansky-Pudlak con neutropenia da deficit di AP3B1 · Sindrome di Hermansky-Pudlak da deficit della subunità beta1 del complesso 3 della proteina correlata all'adattatore · Sindrome di Hermansky-Pudlak tipo 2
nl	Syndroom van Hermansky-Pudlak door AP3B1-deficiëntie	HSP2 · Syndroom van Hermansky-Pudlak door deficiëntie van adaptatorgerelateerd proteïnecomplex 3 subeenheid bèta1 · Syndroom van Hermansky-Pudlak met neutropenie door AP3B1-deficiëntie · Syndroom van Hermansky-Pudlak type 2
pt	Síndrome Hermansky-Pudlak devido a deficiência AP3B1	HPS2 · Síndrome Hermansky-Pudlak por deficiência do adaptador relacionado com a subunidade beta1 do complexo proteico 3 · Síndrome Hermansky-Pudlak com neutropenia por deficiência AP3B1 · Síndrome Hermansky-Pudlak tipo 2
pl	Zespół Hermansky'ego-Pudlaka spowodowany niedoborem AP3B1	= en
cs	Heřmanského-Pudlákův syndrom způsobený deficitem AP3B1	Heřmanský-Pudlák syndrom způsobený deficitem AP3B1
uk	Синдром Германського-Пудлака, зумовлений дефіцитом AP3B1	Синдром Германського-Пудлака, зумовлений дефіцитом субодиниці бета1 адаптерного білкового комплексу 3 · Синдром Германського-Пудлака, тип 2 · Синдром Германського-Пудлака з нейтропенією внаслідок дефіциту AP3B1 · HPS2

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
MONDO	0011997	E		validated
UMLS	C5889871	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):

ORPHA:98004Rare immune disease

Parents in the classifications (1):

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

No children.

Genes

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
AP3B1	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:566	ENSG00000132842	603401	5q14.1	adaptor related protein complex 3 subunit beta 1	10024875[PMID]

Prevalence and incidence

0 records

No prevalence record in this release.

HPO phenotypes

Orphanet has no HPO annotation for this code in this release.

Sources for this card

Orphanet page: orpha.net/en/disease/detail/664500
This record as JSON: /data/d/664500.json