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Hermansky-Pudlak syndrome due to AP-3 deficiency

Disease definition

Hermansky-Pudlak syndrome type 2 (HPS-2) is a type of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia.

ORPHA:183678

Classification level: Subtype of disorder
  • Synonym(s):
    • Hermansky-Pudlak syndrome with neutropenia
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal
  • ICD-10: E70.3
  • ICD-11: EC23.20
  • OMIM: 608233  617050
  • UMLS: C1842362
  • MeSH: -
  • GARD: -
  • MedDRA: -

Summary

Epidemiology

To date HPS-2 has been described in eight patients.

Clinical description

HPS-2 presents with features of HPS including oculocutaneous albinisim, reduced visual acuity, horizontal nystagmus, easy bruising of soft tissues, epistaxis, and prolonged bleeding after dental extraction, surgery or childbirth. Women may present with medically significant menstrual bleeding. In addition, HPS-2 patients present with recurrent infections due to neutropenia and impaired cytotoxic activity. Recently, pulmonary fibrosis has been described in some HPS-2 cases.

Etiology

HPS-2 is caused by mutations in the AP3B1 gene (5q14.1) and is transmitted in an autosomal recessive manner. The gene product is the Beta 3A subunit of adaptor protein 3 (AP3), involved in vesicle formation and protein sorting.

Management and treatment

The neutropenia is responsive to granulocyte-cell stimulating factor (G-CSF).

Expert reviewer(s):  Dr William GAHL - Dr Marjan HUIZING - Last update: March 2010

  A summary on this disease is available in Español (2010) Français (2010) Nederlands (2010)

Detailed information

Guidelines

Disease review articles

Genetic Testing

ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.