MCID: HRM011
MIFTS: 28

Hermansky-Pudlak Syndrome 8

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

Aliases & Classifications for Hermansky-Pudlak Syndrome 8

MalaCards integrated aliases for Hermansky-Pudlak Syndrome 8:

Name: Hermansky-Pudlak Syndrome 8 53 12 71 28 13 69
Hps8 53 55 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 55
Delta Storage Pool Disease 71

Characteristics:

Orphanet epidemiological data:

55
hermansky-pudlak syndrome type 8
Prevalence: <1/1000000 (Worldwide);

OMIM:

53
Inheritance:
autosomal recessive


HPO:

31
hermansky-pudlak syndrome 8:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 53 614077
Disease Ontology 12 DOID:0060546
Orphanet 55 ORPHA231537
ICD10 via Orphanet 33 E70.3
MeSH 41 D022861

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 1, and has symptoms including visual impairment, bruising susceptibility and ocular 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 1 Hermansky-Pudlak Syndrome 2
Hermansky-Pudlak Syndrome 3 Hermansky-Pudlak Syndrome 4
Hermansky-Pudlak Syndrome 5 Hermansky-Pudlak Syndrome 6
Hermansky-Pudlak Syndrome 7 Hermansky-Pudlak Syndrome 8
Hermansky-Pudlak Syndrome 9 Hermansky-Pudlak Syndrome 10

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

# Related Disease Score Top Affiliating Genes
1 isolated delta-storage pool disease 12.3
2 hermansky-pudlak syndrome 1 11.7
3 hermansky-pudlak syndrome 9.9

Symptoms & Phenotypes for Hermansky-Pudlak Syndrome 8

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Eyes:
myopia
reduced visual acuity
astigmatism
optic disc pallor
esotropia
more
Genitourinary Internal Genitalia Female:
menorrhagia

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

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

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:

31
# Description HPO Frequency HPO Source Accession
1 visual impairment 31 HP:0000505
2 bruising susceptibility 31 HP:0000978
3 ocular albinism 31 HP:0001107
4 albinism 31 HP:0001022

UMLS symptoms related to Hermansky-Pudlak Syndrome 8:


abdominal pain

Drugs & Therapeutics for Hermansky-Pudlak Syndrome 8

Search Clinical Trials , NIH Clinical Center for Hermansky-Pudlak Syndrome 8

Genetic Tests for Hermansky-Pudlak Syndrome 8

Genetic tests related to Hermansky-Pudlak Syndrome 8:

# Genetic test Affiliating Genes
1 Hermansky-Pudlak Syndrome 8 28 BLOC1S3

Anatomical Context for Hermansky-Pudlak Syndrome 8

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

38
Lung, Skin, Eye, Retina

Publications for Hermansky-Pudlak Syndrome 8

Articles related to Hermansky-Pudlak Syndrome 8:

# Title Authors Year
1
A BLOC-1 mutation screen reveals a novel BLOC1S3 mutation in Hermansky-Pudlak Syndrome type 8. ( 22709368 )
2012
2
A germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky-Pudlak syndrome (HPS8). ( 16385460 )
2006

Variations for Hermansky-Pudlak Syndrome 8

ClinVar genetic disease variations for Hermansky-Pudlak Syndrome 8:

6
# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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