MCID: HRM011
MIFTS: 32

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 57 12 75 29 13 6 73
Hps8 57 59 75
Albinism with Hemorrhagic Diathesis and Pigmented Reticuloendothelial Cells 73
Albinism with Hemorrhagic Diathesis and Pigmented Reticuloendothelial 75
Hermansky-Pudlak Syndrome, Type 8 40
Platelet Storage Pool Deficiency 73
Hermansky-Pudlak Syndrome Type 8 59
Delta Storage Pool Disease 75

Characteristics:

Orphanet epidemiological data:

59
hermansky-pudlak syndrome type 8
Prevalence: <1/1000000 (Worldwide);

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
hermansky-pudlak syndrome 8:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 614077
Disease Ontology 12 DOID:0060546
Orphanet 59 ORPHA231537
ICD10 via Orphanet 34 E70.3
MeSH 44 D022861

Summaries for Hermansky-Pudlak Syndrome 8

UniProtKB/Swiss-Prot : 75 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 abdominal pain An important gene associated with Hermansky-Pudlak Syndrome 8 is BLOC1S3 (Biogenesis Of Lysosomal Organelles Complex 1 Subunit 3), and among its related pathways/superpathways is Vesicle-mediated transport. Affiliated tissues include lung, skin and eye, and related phenotypes are visual impairment and bruising susceptibility

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

Graphical network of the top 20 diseases related to Hermansky-Pudlak Syndrome 8:



Diseases related to Hermansky-Pudlak Syndrome 8

Symptoms & Phenotypes for Hermansky-Pudlak Syndrome 8

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
myopia
reduced visual acuity
horizontal nystagmus
astigmatism
optic disc pallor
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:

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

UMLS symptoms related to Hermansky-Pudlak Syndrome 8:


abdominal pain

MGI Mouse Phenotypes related to Hermansky-Pudlak Syndrome 8:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 pigmentation MP:0001186 8.96 BLOC1S3 TRAPPC6A
2 vision/eye MP:0005391 8.62 BLOC1S3 TRAPPC6A

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 29 BLOC1S3

Anatomical Context for Hermansky-Pudlak Syndrome 8

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

41
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

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.448delC (p.Gln150Argfs) deletion Pathogenic rs281865116 GRCh38 Chromosome 19, 45179744: 45179744
3 BLOC1S3 NM_212550.4(BLOC1S3): c.131C> A (p.Ser44Ter) single nucleotide variant Pathogenic rs281865115 GRCh38 Chromosome 19, 45179427: 45179427
4 BLOC1S3 NM_212550.4(BLOC1S3): c.131C> A (p.Ser44Ter) single nucleotide variant Pathogenic rs281865115 GRCh37 Chromosome 19, 45682685: 45682685

Expression for Hermansky-Pudlak Syndrome 8

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

Pathways for Hermansky-Pudlak Syndrome 8

Pathways related to Hermansky-Pudlak Syndrome 8 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.73 BLOC1S3 TRAPPC6A

GO Terms for Hermansky-Pudlak Syndrome 8

Biological processes related to Hermansky-Pudlak Syndrome 8 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 pigmentation GO:0043473 8.62 BLOC1S3 TRAPPC6A

Sources for Hermansky-Pudlak Syndrome 8

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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