Information on HPS10

Basic details

Name: Hermansky-Pudlak syndrome 10 | Acronym: HPS10
Alt. names:

Gene: AP3D1 | MOI: Autosomal recessive | Mechanism of action:

No. of cases in DB: 0 | First reported in: 2016

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

OMIM: 617050

Orphanet: -

MONDO: -

DOID: -

ClinGen:

Description

The condition can involve neutropenia and susceptibility to infections, and prompt and aggressive treatment of infections may be beneficial. Refs. PMIDs: 26744459

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 Interstitial lung diseasearrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
2 Albinismarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
3 Apneaarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
4 Muscular hypotonia of the trunkarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
5 Grand mal seizuresarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
6 Cerebral atrophyarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
7 Delayed CNS myelinationarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
8 Dystoniaarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
9 EEG abnormalityarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
10 Feeding difficultiesarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
11 Focal myoclonic seizurearrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
12 Generalized hypotoniaarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
13 Hepatomegalyarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
14 Hypotelorismarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
15 Immunodeficiencyarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
16 Low-set earsarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
17 Macrotiaarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
18 Microcephalyarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
19 Neutropeniaarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
20 Nystagmusarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
21 Ocular albinismarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
22 Poor head controlarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
23 Recurrent respiratory infectionsarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
24 Retrognathiaarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
25 Severe global developmental delayarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
26 Smooth philtrumarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
27 Splenomegalyarrow 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.