ORPHA:231531

Hermansky-Pudlak syndrome due to BLOC-1 deficiency

Type: Clinical subtype
Group: Subtype of disorder
Inheritance: Autosomal recessive
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 or immunodeficiency, but no pulmonary fibrosis.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Hermansky-Pudlak syndrome due to BLOC-1 deficiency
fr	Syndrome de Hermansky-Pudlak par déficit en BLOC-1
de	Hermansky-Pudlak-Syndrom durch BLOC-1-Defizienz	HPS7
es	Síndrome de Hermansky-Pudlak por deficiencia de BLOC-1
it	Sindrome di Hermansky-Pudlak da deficit di BLOC-1
nl	Syndroom van Hermansky-Pudlak door deficiëntie van BLOC-1
pt	Síndrome Hermansky-Pudlak por deficiência BLOC-1
pl	Zespół Hermansky'ego i Pudlaka typu 7	HPS7 · Zespół Hermanskiego-Pudlaka spowodowany niedoborem BLOC-1
cs	Heřmanského-Pudlákův syndrom způsobený deficitem BLOC-1	HPS7 · Heřmanského-Pudlákův syndrom, typ 7 · Heřmanský-Pudlákův syndrom způsobený deficitem BLOC-1 · Heřmansky-Pudlákův syndrom, typ 7
uk	Синдром Германського-Пудлака, зумовлений дефіцитом BLOC-1
zh	赫曼斯基-普德拉克综合征7型	HPS7
tr	Hermansky-Pudlak sendromu tip 7	HPS7

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	614076	BTNT		validated
OMIM	614077	BTNT		validated
OMIM	614171	BTNT		validated
OMIM	619172	BTNT		validated
ICD-10	E70.3	NTBT	attributed	validated
ICD-11	EC23.20	NTBT	index	validated
UMLS	C5680913	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.

Codes that Orphanet moved or referred to this one:

ORPHA:231537Hermansky-Pudlak syndrome type 8 moved to · inactive
ORPHA:280663Hermansky-Pudlak syndrome type 9 moved to · inactive

Genes

4 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
BLOC1S3	Disease-causing germline mutation(s) in	Assessed	HGNC:20914	ENSG00000189114	609762	19q13.32	biogenesis of lysosomal organelles complex 1 subunit 3	16420244[PMID]_27514596[PMID]_20301464[PMID]
BLOC1S5	Disease-causing germline mutation(s) in	Assessed	HGNC:18561	ENSG00000188428	607289	6p24.3	biogenesis of lysosomal organelles complex 1 subunit 5	16420244[PMID]_27514596[PMID]_20301464[PMID]
BLOC1S6	Disease-causing germline mutation(s) in	Assessed	HGNC:8549	ENSG00000104164	604310	15q21.1	biogenesis of lysosomal organelles complex 1 subunit 6	16420244[PMID]_27514596[PMID]_20301464[PMID]
DTNBP1	Disease-causing germline mutation(s) in	Assessed	HGNC:17328	ENSG00000047579	607145	6p22.3	dystrobrevin binding protein 1	12923531[PMID]

Prevalence and incidence

2 records

Type	Class	Value	Area	Qualification	Validation	Source
Cases/families		9 cases	Worldwide	Case(s)	Validated	12923531[PMID]_23364359[PMID]_22461475[PMID]_16385460[PMID]
Point prevalence	<1 / 1 000 000	—	Worldwide	Class only	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/231531
This record as JSON: /data/d/231531.json