HPS8
MCID: HRM011
MIFTS: 35

Hermansky-Pudlak Syndrome 8 (HPS8)

Categories: Blood diseases, Eye diseases, Genetic diseases, Immune diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Respiratory diseases, Skin diseases

Aliases & Classifications for Hermansky-Pudlak Syndrome 8

MalaCards integrated aliases for Hermansky-Pudlak Syndrome 8:

Name: Hermansky-Pudlak Syndrome 8 57 12 72 29 13 6 70
Hps8 57 58 72
Albinism with Hemorrhagic Diathesis and Pigmented Reticuloendothelial Cells 70
Albinism with Hemorrhagic Diathesis and Pigmented Reticuloendothelial 72
Hermansky-Pudlak Syndrome, Type 8 39
Platelet Storage Pool Deficiency 70
Hermansky-Pudlak Syndrome Type 8 58
Delta Storage Pool Disease 72

Characteristics:

Orphanet epidemiological data:

58
hermansky-pudlak syndrome type 8
Prevalence: <1/1000000 (Worldwide);

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


HPO:

31
hermansky-pudlak syndrome 8:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare eye diseases
Rare skin diseases
Inborn errors of metabolism
Rare haematological diseases


External Ids:

Disease Ontology 12 DOID:0060546
OMIM® 57 614077
OMIM Phenotypic Series 57 PS203300
MeSH 44 D022861
ICD10 via Orphanet 33 E70.3
Orphanet 58 ORPHA231537
UMLS 70 C0032197 C2931875 C3888026

Summaries for Hermansky-Pudlak Syndrome 8

UniProtKB/Swiss-Prot : 72 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 hermansky-pudlak syndrome 1 and hermansky-pudlak syndrome 2, 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). The drugs Pirfenidone and Acetylcysteine have been mentioned in the context of this disorder. Affiliated tissues include eye and retina, and related phenotypes are visual impairment and myopia

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

More information from OMIM: 614077 PS203300

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

Human phenotypes related to Hermansky-Pudlak Syndrome 8:

31 (show all 17)
# Description HPO Frequency HPO Source Accession
1 visual impairment 31 HP:0000505
2 myopia 31 HP:0000545
3 reduced visual acuity 31 HP:0007663
4 epistaxis 31 HP:0000421
5 gingival bleeding 31 HP:0000225
6 bruising susceptibility 31 HP:0000978
7 astigmatism 31 HP:0000483
8 ocular albinism 31 HP:0001107
9 hypoplasia of the fovea 31 HP:0007750
10 optic disc pallor 31 HP:0000543
11 hypermetropia 31 HP:0000540
12 esotropia 31 HP:0000565
13 horizontal nystagmus 31 HP:0000666
14 exotropia 31 HP:0000577
15 albinism 31 HP:0001022
16 menorrhagia 31 HP:0000132
17 impaired platelet aggregation 31 HP:0003540

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
myopia
reduced visual acuity
astigmatism
optic disc pallor
esotropia
more
Genitourinary Internal Genitalia Female:
menorrhagia

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

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

Hematology:
impaired platelet aggregation
bleeding tendency
absence of platelet dense bodies
lack of secondary aggregation response of platelets
lack of platelet atp secretion in response to agonists

Head And Neck Mouth:
bleeding gums

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

Clinical features from OMIM®:

614077 (Updated 05-Apr-2021)

UMLS symptoms related to Hermansky-Pudlak Syndrome 8:


abdominal pain

Drugs & Therapeutics for Hermansky-Pudlak Syndrome 8

Drugs for Hermansky-Pudlak Syndrome 8 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 40)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Pirfenidone Approved, Investigational Phase 2 53179-13-8 40632
2
Acetylcysteine Approved, Investigational Phase 1, Phase 2 616-91-1 12035
3
Erythromycin Approved, Investigational, Vet_approved Phase 1, Phase 2 114-07-8 12560
4
Pravastatin Approved Phase 1, Phase 2 81093-37-0 54687
5
Zileuton Approved, Investigational, Withdrawn Phase 1, Phase 2 111406-87-2 60490
6
Angiotensin II Approved, Investigational Phase 1, Phase 2 68521-88-0, 11128-99-7, 4474-91-3 172198
7
Losartan Approved Phase 1, Phase 2 114798-26-4 3961
8 Anti-Arrhythmia Agents Phase 1, Phase 2
9 Erythromycin Estolate Phase 1, Phase 2
10 Respiratory System Agents Phase 1, Phase 2
11 Giapreza Phase 1, Phase 2
12 Hormone Antagonists Phase 1, Phase 2
13 Anticholesteremic Agents Phase 1, Phase 2
14 Gastrointestinal Agents Phase 1, Phase 2
15 Antimetabolites Phase 1, Phase 2
16 Anti-Infective Agents Phase 1, Phase 2
17 Antihypertensive Agents Phase 1, Phase 2
18 Analgesics, Non-Narcotic Phase 1, Phase 2
19 Analgesics Phase 1, Phase 2
20 Erythromycin stearate Phase 1, Phase 2
21 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 1, Phase 2
22 Expectorants Phase 1, Phase 2
23 Erythromycin Ethylsuccinate Phase 1, Phase 2
24 Antirheumatic Agents Phase 1, Phase 2
25 Anti-Inflammatory Agents Phase 1, Phase 2
26 Lipid Regulating Agents Phase 1, Phase 2
27 Antidotes Phase 1, Phase 2
28 Antiviral Agents Phase 1, Phase 2
29 Antioxidants Phase 1, Phase 2
30 Leukotriene Antagonists Phase 1, Phase 2
31 Pharmaceutical Solutions Phase 1, Phase 2
32 Hormones Phase 1, Phase 2
33 Anti-Bacterial Agents Phase 1, Phase 2
34 Angiotensinogen Phase 1, Phase 2
35 N-monoacetylcystine Phase 1, Phase 2
36 Angiotensin Receptor Antagonists Phase 1, Phase 2
37 Protective Agents Phase 1, Phase 2
38 Hypolipidemic Agents Phase 1, Phase 2
39 Anti-Inflammatory Agents, Non-Steroidal Phase 1, Phase 2
40 Angiotensin II Type 1 Receptor Blockers Phase 1, Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Therapeutic Clinical Trial of Oral Pirfenidone for the Pulmonary Fibrosis of Hermansky-Pudlak Syndrome Completed NCT00001596 Phase 2 Pirfenidone;Placebo
2 Pilot Study of a Multi-Drug Regimen for Severe Pulmonary Fibrosis in Hermansky-Pudlak Syndrome Terminated NCT00467831 Phase 1, Phase 2 Losartan;Zileuton;N-Acetylcysteine;Pravastatin;Erythromycin

Search 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:

40
Eye, Retina

Publications for Hermansky-Pudlak Syndrome 8

Articles related to Hermansky-Pudlak Syndrome 8:

# Title Authors PMID Year
1
A germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky-Pudlak syndrome (HPS8). 57 6 61
16385460 2006
2
A BLOC-1 mutation screen reveals a novel BLOC1S3 mutation in Hermansky-Pudlak Syndrome type 8. 57 6
22709368 2012
3
Identification of snapin and three novel proteins (BLOS1, BLOS2, and BLOS3/reduced pigmentation) as subunits of biogenesis of lysosome-related organelles complex-1 (BLOC-1). 57
15102850 2004
4
Modeling of Fibrotic Lung Disease Using 3D Organoids Derived from Human Pluripotent Stem Cells. 61
31216486 2019
5
The THO/TREX Complex Active in miRNA Biogenesis Negatively Regulates Root-Associated Acid Phosphatase Activity Induced by Phosphate Starvation. 61
27329222 2016
6
An association study of the Hermansky-Pudlak syndrome type 4 gene in schizophrenic patients. 61
23563589 2013
7
Compound heterozygous mutations in 2 siblings with Hermansky-Pudlak syndrome type 1 (HPS1). 61
20514622 2010

Variations for Hermansky-Pudlak Syndrome 8

ClinVar genetic disease variations for Hermansky-Pudlak Syndrome 8:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 BLOC1S3 NM_212550.4(BLOC1S3):c.448del (p.Gln150fs) Deletion Pathogenic 1489 rs281865116 GRCh37: 19:45683000-45683000
GRCh38: 19:45179742-45179742
2 BLOC1S3 NM_212550.4(BLOC1S3):c.131C>A (p.Ser44Ter) SNV Pathogenic 431167 rs281865115 GRCh37: 19:45682685-45682685
GRCh38: 19:45179427-45179427
3 BLOC1S3 NM_212550.5(BLOC1S3):c.444_467del (p.Gln150_Ala157del) Deletion Pathogenic 870134 GRCh37: 19:45682988-45683011
GRCh38: 19:45179730-45179753
4 BLOC1S3 NM_212550.5(BLOC1S3):c.101C>A (p.Ser34Ter) SNV Pathogenic 997483 GRCh37: 19:45682655-45682655
GRCh38: 19:45179397-45179397
5 BLOC1S3 NM_212550.5(BLOC1S3):c.385_403del (p.Ser129fs) Deletion Pathogenic 929862 GRCh37: 19:45682931-45682949
GRCh38: 19:45179673-45179691
6 BLOC1S3 NM_212550.5(BLOC1S3):c.338_341del (p.Leu113fs) Deletion Pathogenic 870630 GRCh37: 19:45682889-45682892
GRCh38: 19:45179631-45179634
7 BLOC1S3 NM_212550.5(BLOC1S3):c.505G>T (p.Ala169Ser) SNV Uncertain significance 1033706 GRCh37: 19:45683059-45683059
GRCh38: 19:45179801-45179801

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
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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