ORPHA:231512

Hermansky-Pudlak syndrome due to BLOC-2 deficiency

Synonyms: HPS without pulmonary fibrosis · Hermansky-Pudlak syndrome without pulmonary fibrosis

Type: Clinical subtype
Group: Subtype of disorder
Inheritance: Autosomal recessive
Age of onset: Infancy, Neonatal
Status: active

A form of Hermansky-Pudlak syndrome characterized by syndromic ocular or oculocutaneous albinism which may present with bleeding diathesis and, in some cases, granulomatous colitis, but without neutropenia or pulmonary fibrosis as a complication.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Hermansky-Pudlak syndrome due to BLOC-2 deficiency	HPS without pulmonary fibrosis · Hermansky-Pudlak syndrome without pulmonary fibrosis
fr	Syndrome de Hermansky-Pudlak par déficit en BLOC-2	HPS sans fibrose pulmonaire · SHP sans fibrose pulmonaire · Syndrome de Hermansky-Pudlak sans fibrose pulmonaire
de	Hermansky-Pudlak-Syndrom durch BLOC-2-Defizienz	HPS ohne Lungenfibrose · Hermansky-Pudlak-Syndrom ohne pulmonale Fibrose
es	Síndrome de Hermansky-Pudlak por deficiencia de BLOC-2	HPS sin fibrosis pulmonar · Síndrome de Hermansky-Pudlak sin fibrosis pulmonar
it	Sindrome di Hermansky-Pudlak da deficit di BLOC-2	HPS senza fibrosi polmonare · Sindrome di Hermansky-Pudlak senza fibrosi polmonare
nl	Syndroom van Hermansky-Pudlak door deficiëntie van BLOC-2	HPS zonder longfibrose · Syndroom van Hermansky-Pudlak zonder longfibrose
pt	Síndrome Hermansky-Pudlak por deficiência BLOC-2	HPS sem fibrose pulmonar
pl	Zespół Hermansky'ego i Pudlaka bez włóknienia płuc	HPS bez włóknienia płuc · Zespół Hermanskiego-Pudlaka spowodowany niedoborem BLOC-2
cs	Heřmanského-Pudlákův syndrom způsobený deficitem BLOC-2	HPS bez plicní fibrózy · Heřmanského-Pudlákův syndrom bez plicní fibrózy · Heřmanský-Pudlákův syndrom způsobený deficitem BLOC-2 · Heřmansky-Pudlákův syndrom bez plicní fibrózy
uk	Синдром Германського-Пудлака, зумовлений дефіцитом BLOC-2	Синдром Германського-Пудлака без легеневого фіброзу · ГПС без легеневого фіброзу
zh	赫曼斯基-普德拉克综合征不伴肺纤维化	HPS不伴肺纤维化
tr	Pulmoner fibrozsuz Hermansky-Pudlak sendromu	Pulmoner fibroz olmayan HPS

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	614072	BTNT		validated
OMIM	614074	BTNT		validated
OMIM	614075	BTNT		validated
ICD-10	E70.3	NTBT	attributed	validated
ICD-11	EC23.20	NTBT	index	validated
MONDO	0016502	E		validated
UMLS	C5679833	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:79430Hermansky-Pudlak syndrome
rare inborn errors of metabolism; rare gastroenterological diseases; rare genetic diseases; rare skin diseases; rare ophthalmic disorders; rare hematological diseases; rare transplant-related disorders

No children.

Genes

3 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name
HPS3	Disease-causing germline mutation(s) in	Assessed	HGNC:15597	ENSG00000163755	606118	3q24	HPS3 biogenesis of lysosomal organelles complex 2 subunit 1
HPS5	Disease-causing germline mutation(s) in	Assessed	HGNC:17022	ENSG00000110756	607521	11p15.1	HPS5 biogenesis of lysosomal organelles complex 2 subunit 2
HPS6	Disease-causing germline mutation(s) in	Assessed	HGNC:18817	ENSG00000166189	607522	10q24.32	HPS6 biogenesis of lysosomal organelles complex 2 subunit 3

Prevalence and incidence

1 record

Type	Class	Value	Area	Qualification	Validation	Source
Point prevalence	Unknown	—	Worldwide	Class only	Not yet validated	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/231512
This record as JSON: /data/d/231512.json