MCID: HRM011
MIFTS: 31

Hermansky-Pudlak Syndrome 8

Categories: Genetic diseases, Eye diseases, Skin diseases, Metabolic diseases, Blood diseases, Rare diseases

Aliases & Classifications for Hermansky-Pudlak Syndrome 8

MalaCards integrated aliases for Hermansky-Pudlak Syndrome 8:

Name: Hermansky-Pudlak Syndrome 8 54 12 24 71 29 13 69
Hps8 24 56 71
Albinism with Hemorrhagic Diathesis and Pigmented Reticuloendothelial Cells 69
Albinism with Hemorrhagic Diathesis and Pigmented Reticuloendothelial 71
Platelet Storage Pool Deficiency 69
Hermansky-Pudlak Syndrome Type 8 56
Delta Storage Pool Disease 71
Hps 8 24

Characteristics:

Orphanet epidemiological data:

56
hermansky-pudlak syndrome type 8
Prevalence: <1/1000000 (Worldwide);

OMIM:

54
Inheritance:
autosomal recessive


HPO:

32
hermansky-pudlak syndrome 8:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Hermansky-Pudlak Syndrome 8

UniProtKB/Swiss-Prot : 71 Hermansky-Pudlak syndrome 8: A form of Hermansky-Pudlak syndrome, a genetically heterogeneous autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS.

MalaCards based summary : Hermansky-Pudlak Syndrome 8, also known as hps8, is related to isolated delta-storage pool disease and hermansky-pudlak syndrome 2, and has symptoms including visual impairment, ocular albinism and albinism. An important gene associated with Hermansky-Pudlak Syndrome 8 is BLOC1S3 (Biogenesis Of Lysosomal Organelles Complex 1 Subunit 3). Affiliated tissues include lung, skin and eye.

Disease Ontology : 12 A Hermansky-Pudlak syndrome that has material basis in homozygous mutation in the BLOC1S3 gene on chromosome 19q13.

Description from OMIM: 614077

Related Diseases for Hermansky-Pudlak Syndrome 8

Diseases in the Hermansky-Pudlak Syndrome family:

Hermansky-Pudlak Syndrome 3 Hermansky-Pudlak Syndrome 2
Hermansky-Pudlak Syndrome 7 Hermansky-Pudlak Syndrome 1
Hermansky-Pudlak Syndrome 6 Hermansky-Pudlak Syndrome 5
Hermansky-Pudlak Syndrome 9 Hermansky-Pudlak Syndrome 10
Hermansky-Pudlak Syndrome 8 Hermansky-Pudlak Syndrome 4

Diseases related to Hermansky-Pudlak Syndrome 8 via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 isolated delta-storage pool disease 12.2
2 hermansky-pudlak syndrome 2 11.4
3 hermansky-pudlak syndrome 9.9

Symptoms & Phenotypes for Hermansky-Pudlak Syndrome 8

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Eyes:
horizontal nystagmus
myopia
reduced visual acuity
optic disc pallor
esotropia
more
Hematology:
bleeding tendency
impaired platelet aggregation
absence of platelet dense bodies
lack of secondary aggregation response of platelets
lack of platelet atp secretion in response to agonists

Genitourinary- Internal Genitalia Female:
menorrhagia

Skin Nails & Hair- Skin Histology:
abnormal aggregates of melanocytes within basal epidermal keratinocytes
reduced amount of melanin pigment in melanocytes

Head And Neck- Nose:
epistaxis

Skin Nails & Hair- Skin:
easy bruising
lighter skin color than unaffected family members

Head And Neck- Mouth:
bleeding gums

Skin Nails & Hair- Hair:
lighter hair color than unaffected family members


Clinical features from OMIM:

614077

Human phenotypes related to Hermansky-Pudlak Syndrome 8:

32
id Description HPO Frequency HPO Source Accession
1 visual impairment 32 HP:0000505
2 ocular albinism 32 HP:0001107
3 albinism 32 HP:0001022
4 bruising susceptibility 32 HP:0000978

UMLS symptoms related to Hermansky-Pudlak Syndrome 8:


abdominal pain

Drugs & Therapeutics for Hermansky-Pudlak Syndrome 8

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Medical Treatment of Colitis in Patients With Hermansky-Pudlak Syndrome Withdrawn NCT00514982 Phase 2 Mesalamine;Infliximab;Corticosteroids;6-Mercaptopurine;Tacrolimus;Adalimumab

Search NIH Clinical Center for Hermansky-Pudlak Syndrome 8

Genetic Tests for Hermansky-Pudlak Syndrome 8

Genetic tests related to Hermansky-Pudlak Syndrome 8:

id Genetic test Affiliating Genes
1 Hermansky-Pudlak Syndrome 8 29 24 BLOC1S3

Anatomical Context for Hermansky-Pudlak Syndrome 8

MalaCards organs/tissues related to Hermansky-Pudlak Syndrome 8:

39
Lung, Skin, Eye, Retina

Publications for Hermansky-Pudlak Syndrome 8

Variations for Hermansky-Pudlak Syndrome 8

ClinVar genetic disease variations for Hermansky-Pudlak Syndrome 8:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 BLOC1S3 NM_212550.4(BLOC1S3): c.448delC (p.Gln150Argfs) deletion Pathogenic rs281865116 GRCh37 Chromosome 19, 45683002: 45683002
2 BLOC1S3 NM_212550.4(BLOC1S3): c.131C> A (p.Ser44Ter) single nucleotide variant Pathogenic rs281865115 GRCh38 Chromosome 19, 45179427: 45179427

Expression for Hermansky-Pudlak Syndrome 8

Search GEO for disease gene expression data for Hermansky-Pudlak Syndrome 8.

Pathways for Hermansky-Pudlak Syndrome 8

GO Terms for Hermansky-Pudlak Syndrome 8

Sources for Hermansky-Pudlak Syndrome 8

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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