HPS9
MCID: HRM012
MIFTS: 43

Hermansky-Pudlak Syndrome 9 (HPS9)

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

Aliases & Classifications for Hermansky-Pudlak Syndrome 9

MalaCards integrated aliases for Hermansky-Pudlak Syndrome 9:

Name: Hermansky-Pudlak Syndrome 9 56 12 73 29 13 6 15 71
Hps9 56 58 73
Albinism with Hemorrhagic Diathesis and Pigmented Reticuloendothelial Cells 71
Albinism with Hemorrhagic Diathesis and Pigmented Reticuloendothelial 73
Hermansky-Pudlak Syndrome, Type 9 39
Platelet Storage Pool Deficiency 71
Hermansky-Pudlak Syndrome Type 9 58
Delta Storage Pool Disease 73

Characteristics:

Orphanet epidemiological data:

58
hermansky-pudlak syndrome type 9
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
based on report of 1 patient (last curated june 2017)


HPO:

31
hermansky-pudlak syndrome 9:
Inheritance autosomal recessive inheritance


Classifications:

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


External Ids:

Disease Ontology 12 DOID:0060547
OMIM 56 614171
OMIM Phenotypic Series 56 PS203300
MeSH 43 D022861
ICD10 via Orphanet 33 E70.3
Orphanet 58 ORPHA280663
MedGen 41 C3280026
UMLS 71 C0032197 C2931875 C3280026

Summaries for Hermansky-Pudlak Syndrome 9

UniProtKB/Swiss-Prot : 73 Hermansky-Pudlak syndrome 9: 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 9, also known as hps9, is related to hermansky-pudlak syndrome and oculocutaneous albinism, and has symptoms including abdominal pain An important gene associated with Hermansky-Pudlak Syndrome 9 is BLOC1S6 (Biogenesis Of Lysosomal Organelles Complex 1 Subunit 6). The drugs Pirfenidone and Erythromycin have been mentioned in the context of this disorder. Affiliated tissues include lung, skin and eye, and related phenotypes are thrombocytopenia and hypopigmentation of the fundus

Disease Ontology : 12 A Hermansky-Pudlak syndrome that has material basis in homozygous mutation in the gene encoding palladin (BLOC1S6) on chromosome 15q21.

More information from OMIM: 614171 PS203300

Related Diseases for Hermansky-Pudlak Syndrome 9

Graphical network of the top 20 diseases related to Hermansky-Pudlak Syndrome 9:



Diseases related to Hermansky-Pudlak Syndrome 9

Symptoms & Phenotypes for Hermansky-Pudlak Syndrome 9

Human phenotypes related to Hermansky-Pudlak Syndrome 9:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 thrombocytopenia 31 HP:0001873
2 hypopigmentation of the fundus 31 HP:0007894
3 ocular albinism 31 HP:0001107
4 leukopenia 31 HP:0001882
5 congenital nystagmus 31 HP:0006934
6 hypopigmentation of the skin 31 HP:0001010

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
nystagmus
ocular albinism

Immunology:
leukopenia
recurrent cutaneous infections

Hematology:
thrombocytopenia

Skin Nails Hair Skin:
cutaneous albinism

Clinical features from OMIM:

614171

UMLS symptoms related to Hermansky-Pudlak Syndrome 9:


abdominal pain

MGI Mouse Phenotypes related to Hermansky-Pudlak Syndrome 9:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.63 BLOC1S4 BLOC1S6 HOOK3 HPS4 STXBP5L VPS33B
2 integument MP:0010771 9.35 BLOC1S4 BLOC1S6 HPS4 STXBP5L VPS33B
3 pigmentation MP:0001186 8.8 BLOC1S4 BLOC1S6 HPS4

Drugs & Therapeutics for Hermansky-Pudlak Syndrome 9

Drugs for Hermansky-Pudlak Syndrome 9 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 39)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Pirfenidone Approved, Investigational Phase 2 53179-13-8 40632
2
Erythromycin Approved, Investigational, Vet_approved Phase 1, Phase 2 114-07-8 12560 441411
3
Acetylcysteine Approved, Investigational Phase 1, Phase 2 616-91-1 12035
4
Angiotensin II Approved, Investigational Phase 1, Phase 2 4474-91-3, 11128-99-7, 68521-88-0 172198
5
Losartan Approved Phase 1, Phase 2 114798-26-4 3961
6
Pravastatin Approved Phase 1, Phase 2 81093-37-0 54687
7 Gastrointestinal Agents Phase 1, Phase 2
8 Erythromycin Estolate Phase 1, Phase 2
9 Angiotensin II Type 1 Receptor Blockers Phase 1, Phase 2
10 Respiratory System Agents Phase 1, Phase 2
11 Angiotensinogen Phase 1, Phase 2
12 Pharmaceutical Solutions Phase 1, Phase 2
13 Erythromycin stearate Phase 1, Phase 2
14 Hormones Phase 1, Phase 2
15 Antihypertensive Agents Phase 1, Phase 2
16 Antioxidants Phase 1, Phase 2
17 Leukotriene Antagonists Phase 1, Phase 2
18 Hormone Antagonists Phase 1, Phase 2
19 Angiotensin Receptor Antagonists Phase 1, Phase 2
20 Anti-Arrhythmia Agents Phase 1, Phase 2
21 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 1, Phase 2
22 Lipid Regulating Agents Phase 1, Phase 2
23 Giapreza Phase 1, Phase 2
24 Antidotes Phase 1, Phase 2
25 Erythromycin Ethylsuccinate Phase 1, Phase 2
26 Anti-Infective Agents Phase 1, Phase 2
27 Anti-Bacterial Agents Phase 1, Phase 2
28 Expectorants Phase 1, Phase 2
29 Analgesics, Non-Narcotic Phase 1, Phase 2
30 Anti-Inflammatory Agents Phase 1, Phase 2
31 Antiviral Agents Phase 1, Phase 2
32 Analgesics Phase 1, Phase 2
33 Anticholesteremic Agents Phase 1, Phase 2
34 Protective Agents Phase 1, Phase 2
35 N-monoacetylcystine Phase 1, Phase 2
36 Antirheumatic Agents Phase 1, Phase 2
37 Hypolipidemic Agents Phase 1, Phase 2
38 Antimetabolites Phase 1, Phase 2
39 Anti-Inflammatory Agents, Non-Steroidal 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
3 Clinical and Basic Investigations Into Hermansky-Pudlak Syndrome Recruiting NCT00001456

Search NIH Clinical Center for Hermansky-Pudlak Syndrome 9

Genetic Tests for Hermansky-Pudlak Syndrome 9

Genetic tests related to Hermansky-Pudlak Syndrome 9:

# Genetic test Affiliating Genes
1 Hermansky-Pudlak Syndrome 9 29 BLOC1S6

Anatomical Context for Hermansky-Pudlak Syndrome 9

MalaCards organs/tissues related to Hermansky-Pudlak Syndrome 9:

40
Lung, Skin, Eye, Endothelial

Publications for Hermansky-Pudlak Syndrome 9

Articles related to Hermansky-Pudlak Syndrome 9:

(show all 11)
# Title Authors PMID Year
1
Exome sequencing reveals a pallidin mutation in a Hermansky-Pudlak-like primary immunodeficiency syndrome. 6 56
22461475 2012
2
A BLOC-1 mutation screen reveals that PLDN is mutated in Hermansky-Pudlak Syndrome type 9. 56
21665000 2011
3
Hermansky-Pudlak Syndrome 6
20301464 2000
4
Plasma lipidomic profiling in murine mutants of Hermansky-Pudlak syndrome reveals differential changes in pro- and anti-atherosclerotic lipids. 61
30710063 2019
5
Gene-edited MLE-15 Cells as a Model for the Hermansky-Pudlak Syndromes. 61
29190429 2018
6
Characterization of melanosomes and melanin in Japanese patients with Hermansky-Pudlak syndrome types 1, 4, 6, and 9. 61
29054114 2018
7
Dysregulation of PLDN (pallidin) is a mechanism for platelet dense granule deficiency in RUNX1 haplodeficiency. 61
28075530 2017
8
BLOC-2 subunit HPS6 deficiency affects the tubulation and secretion of von Willebrand factor from mouse endothelial cells. 61
27889498 2016
9
Generation of Hermansky-Pudlak Syndrome Type 1 (HPS1) induced pluripotent stem cells (iPSCs). 61
27345974 2016
10
Clinical, laboratory and molecular signs of immunodeficiency in patients with partial oculo-cutaneous albinism. 61
24134793 2013
11
An association study of the Hermansky-Pudlak syndrome type 4 gene in schizophrenic patients. 61
23563589 2013

Variations for Hermansky-Pudlak Syndrome 9

ClinVar genetic disease variations for Hermansky-Pudlak Syndrome 9:

6 (show all 19) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 BLOC1S6 NM_012388.3(BLOC1S6):c.232C>T (p.Gln78Ter)SNV Pathogenic 30412 rs201348482 15:45895305-45895305 15:45603107-45603107
2 BLOC1S6 NM_012388.4(BLOC1S6):c.319_320delinsAT (p.Glu107Met)indel Likely pathogenic 827679 15:45897632-45897633 15:45605434-45605435
3 BLOC1S6 NM_012388.4(BLOC1S6):c.200C>G (p.Ser67Ter)SNV Likely pathogenic 827680 15:45884450-45884450 15:45592252-45592252
4 BLOC1S6 NM_012388.3(BLOC1S6):c.82+10A>GSNV Conflicting interpretations of pathogenicity 316224 rs370370639 15:45879733-45879733 15:45587535-45587535
5 BLOC1S6 NM_012388.3(BLOC1S6):c.294G>T (p.Met98Ile)SNV Conflicting interpretations of pathogenicity 522345 rs574333116 15:45895367-45895367 15:45603169-45603169
6 BLOC1S6 NM_012388.3(BLOC1S6):c.79C>T (p.Pro27Ser)SNV Uncertain significance 565888 rs138284359 15:45879720-45879720 15:45587522-45587522
7 BLOC1S6 NM_012388.3(BLOC1S6):c.182T>G (p.Leu61Trp)SNV Uncertain significance 574164 rs1048656816 15:45884432-45884432 15:45592234-45592234
8 BLOC1S6 NM_012388.3(BLOC1S6):c.131T>C (p.Ile44Thr)SNV Uncertain significance 656143 15:45884381-45884381 15:45592183-45592183
9 BLOC1S6 NM_012388.3(BLOC1S6):c.196A>G (p.Arg66Gly)SNV Uncertain significance 654571 15:45884446-45884446 15:45592248-45592248
10 BLOC1S6 NM_012388.3(BLOC1S6):c.205C>G (p.Gln69Glu)SNV Uncertain significance 644972 15:45884455-45884455 15:45592257-45592257
11 BLOC1S6 NM_012388.3(BLOC1S6):c.286C>T (p.His96Tyr)SNV Uncertain significance 659712 15:45895359-45895359 15:45603161-45603161
12 BLOC1S6 NM_012388.3(BLOC1S6):c.391A>G (p.Lys131Glu)SNV Uncertain significance 654312 15:45897704-45897704 15:45605506-45605506
13 BLOC1S6 NM_012388.3(BLOC1S6):c.421C>T (p.Gln141Ter)SNV Uncertain significance 666136 15:45898614-45898614 15:45606416-45606416
14 BLOC1S6 NM_012388.3(BLOC1S6):c.501A>T (p.Arg167Ser)SNV Uncertain significance 662802 15:45898694-45898694 15:45606496-45606496
15 BLOC1S6 NM_012388.4(BLOC1S6):c.187G>A (p.Asp63Asn)SNV Uncertain significance 858786 15:45884437-45884437 15:45592239-45592239
16 BLOC1S6 NM_012388.4(BLOC1S6):c.319G>A (p.Glu107Lys)SNV Uncertain significance 860081 15:45897632-45897632 15:45605434-45605434
17 BLOC1S6 NM_012388.4(BLOC1S6):c.144A>T (p.Ala48=)SNV Likely benign 708957 15:45884394-45884394 15:45592196-45592196
18 BLOC1S6 NM_012388.4(BLOC1S6):c.252A>T (p.Thr84=)SNV Likely benign 739892 15:45895325-45895325 15:45603127-45603127
19 BLOC1S6 NM_012388.3(BLOC1S6):c.34G>A (p.Ala12Thr)SNV Benign/Likely benign 434516 rs145762743 15:45879675-45879675 15:45587477-45587477

Expression for Hermansky-Pudlak Syndrome 9

Search GEO for disease gene expression data for Hermansky-Pudlak Syndrome 9.

Pathways for Hermansky-Pudlak Syndrome 9

GO Terms for Hermansky-Pudlak Syndrome 9

Cellular components related to Hermansky-Pudlak Syndrome 9 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.8 VPS33B STXBP5L HPS4 HOOK3 BLOC1S6 BLOC1S4
2 axon cytoplasm GO:1904115 9.26 BLOC1S6 BLOC1S4
3 SNARE complex GO:0031201 9.16 STXBP5L BLOC1S6
4 BLOC-1 complex GO:0031083 8.96 BLOC1S6 BLOC1S4
5 HOPS complex GO:0030897 8.62 VPS33B HOOK3

Biological processes related to Hermansky-Pudlak Syndrome 9 according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 protein transport GO:0015031 9.63 VPS33B STXBP5L HOOK3
2 blood coagulation GO:0007596 9.49 HPS4 BLOC1S6
3 neuron projection development GO:0031175 9.48 BLOC1S6 BLOC1S4
4 endosome to lysosome transport GO:0008333 9.43 VPS33B HOOK3
5 membrane fusion GO:0061025 9.4 VPS33B BLOC1S6
6 lysosome organization GO:0007040 9.37 HPS4 HOOK3
7 endosome organization GO:0007032 9.32 VPS33B HOOK3
8 anterograde axonal transport GO:0008089 9.26 BLOC1S6 BLOC1S4
9 melanosome organization GO:0032438 9.16 BLOC1S6 BLOC1S4
10 melanocyte differentiation GO:0030318 8.96 HPS4 BLOC1S6
11 anterograde synaptic vesicle transport GO:0048490 8.62 BLOC1S6 BLOC1S4

Molecular functions related to Hermansky-Pudlak Syndrome 9 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Rab GTPase binding GO:0017137 8.96 STXBP5L HPS4
2 syntaxin binding GO:0019905 8.62 STXBP5L BLOC1S6

Sources for Hermansky-Pudlak Syndrome 9

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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