Information on HPS2

Basic details

Name: Hermansky-Pudlak syndrome 2 | Acronym: HPS2
Alt. names:

Gene: AP3B1 | MOI: Autosomal recessive | Mechanism of action:

No. of cases in DB: 0 | First reported in: 1999

Last updated on: 2023-02-28 16:41:18 by

OMIM: 608233

Orphanet: -

MONDO: -

DOID: -

ClinGen:

Description

Prevention and treatment of bleeding episodes (eg, with DDAVP or platelet/RBC transfusions) can be effective, and aspirin-containing products should be avoided; Skin surveillance and protection can be beneficial; Prompt treatment of pulmonary infections (as well as avoidance of cigarette smoke) to maximize pulmonary function is indicated, including influenza and pneumococcus vaccination . Refs. PMIDs: 10024875; 11809908; 16507770; 16537806; 20301464; 23215637

Management

Description of management option has not been reviewed yet.

Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.

0 reported cases added to GenIA

SubjectID Sex Fam.ID AD AFM Validity Country Population Reference & Pub.code

AD: Age at genetic diagnosis; AFM: age at first manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).

Summary of clinical findings

[Considering only Definitive and Possible cases]

Rank Clinical term Present Absent Unreported
1 Splenomegalyarrow icon 3 (99.9%) 0 (0.0%) 0 (0.0%)
2 Carious teetharrow icon 2 (99.9%) 0 (0.0%) 0 (0.0%)
3 Coarse facial featuresarrow icon 2 (99.9%) 0 (0.0%) 0 (0.0%)
4 Generalized hypopigmentationarrow icon 2 (99.9%) 0 (0.0%) 0 (0.0%)
5 Low-set earsarrow icon 2 (99.9%) 0 (0.0%) 0 (0.0%)
6 Mild global developmental delayarrow icon 2 (99.9%) 0 (0.0%) 0 (0.0%)
7 Neutropeniaarrow icon 2 (99.9%) 0 (0.0%) 0 (0.0%)
8 Nystagmusarrow icon 2 (99.9%) 0 (0.0%) 0 (0.0%)
9 Periodontitisarrow icon 2 (99.9%) 0 (0.0%) 0 (0.0%)
10 Photophobiaarrow icon 2 (99.9%) 0 (0.0%) 0 (0.0%)
11 Posteriorly rotated earsarrow icon 2 (99.9%) 0 (0.0%) 0 (0.0%)
12 Reduced NK cell numberarrow icon 2 (99.9%) 0 (0.0%) 0 (0.0%)
13 Reduced visual acuityarrow icon 2 (99.9%) 0 (0.0%) 0 (0.0%)
14 Thrombocytopeniaarrow icon 2 (99.9%) 0 (0.0%) 0 (0.0%)
15 Wide nasal bridgearrow icon 2 (99.9%) 0 (0.0%) 0 (0.0%)
16 Absent platelet dense granulesarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
17 Acetabular dysplasiaarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
18 Albinismarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
19 Oral candidiasisarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
20 Decreased CD4:CD8 ratioarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
21 Enlarged platelet dense granulesarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
22 Epicanthusarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
23 Fair hairarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
24 Gastroesophageal refluxarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
25 Hepatomegalyarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
26 Hepatosplenomegalyarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
27 Horizontal nystagmusarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
28 Impaired ADP-induced platelet aggregationarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
29 Intellectual disability, mildarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
30 Long philtrumarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
31 Motor delayarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
32 Prolonged bleeding timearrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
33 Recurrent abscess formationarrow icon 1 (50.0%) 0 (0.0%) 1 (50.0%)
34 repeated bacterial infectionsarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
35 Recurrent otitis mediaarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
36 Recurrent pneumoniaarrow icon 1 (50.0%) 0 (0.0%) 1 (50.0%)
37 Reduced natural killer cell activityarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
38 Thin upper lip vermilionarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)

Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.

Summary of treatment outcomes

[Considering only Definitive and Possible cases]

Treatment ⓘ Responses & clinical indications

Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.