HPS9
MCID: HRM012
MIFTS: 45

Hermansky-Pudlak Syndrome 9 (HPS9)

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 9

MalaCards integrated aliases for Hermansky-Pudlak Syndrome 9:

Name: Hermansky-Pudlak Syndrome 9 57 12 72 29 13 6 15 70
Hps9 57 58 72
Albinism with Hemorrhagic Diathesis and Pigmented Reticuloendothelial Cells 70
Albinism with Hemorrhagic Diathesis and Pigmented Reticuloendothelial 72
Hermansky-Pudlak Syndrome, Type 9 39
Platelet Storage Pool Deficiency 70
Hermansky-Pudlak Syndrome Type 9 58
Delta Storage Pool Disease 72

Characteristics:

Orphanet epidemiological data:

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

OMIM®:

57 (Updated 05-Apr-2021)
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® 57 614171
OMIM Phenotypic Series 57 PS203300
MeSH 44 D022861
ICD10 via Orphanet 33 E70.3
Orphanet 58 ORPHA280663
MedGen 41 C3280026
UMLS 70 C0032197 C2931875 C3280026

Summaries for Hermansky-Pudlak Syndrome 9

UniProtKB/Swiss-Prot : 72 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 1 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), and among its related pathways/superpathways are Vesicle-mediated transport and Clathrin derived vesicle budding. The drugs Pirfenidone and Acetylcysteine have been mentioned in the context of this disorder. Affiliated tissues include eye and endothelial, 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

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
Hermansky-Pudlak Syndrome 11

Diseases related to Hermansky-Pudlak Syndrome 9 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 33)
# Related Disease Score Top Affiliating Genes
1 hermansky-pudlak syndrome 1 32.0 HPS4 BLOC1S6
2 oculocutaneous albinism 30.1 HPS4 BLOC1S6
3 hermansky-pudlak syndrome 29.2 SNAPIN HPS4 BLOC1S6 BLOC1S4
4 hermansky-pudlak syndrome 2 11.4
5 hermansky-pudlak syndrome 3 11.4
6 hermansky-pudlak syndrome 4 11.4
7 hermansky-pudlak syndrome 5 11.4
8 hermansky-pudlak syndrome 6 11.4
9 hermansky-pudlak syndrome 7 11.4
10 hermansky-pudlak syndrome 8 11.4
11 isolated delta-storage pool disease 11.4
12 albinism 10.4
13 von willebrand's disease 10.2
14 blood platelet disease 10.2
15 ifap syndrome 2 10.2
16 hidradenitis suppurativa 10.2
17 hidradenitis 10.2
18 dextrocardia 10.2
19 pathologic nystagmus 10.2
20 syndromic oculocutaneous albinism 10.2
21 factor viii deficiency 10.1
22 glanzmann thrombasthenia 10.1
23 hemophilia a 10.1
24 menkes disease 10.1
25 ehlers-danlos syndrome 10.1
26 thrombocytopenia 10.1
27 hemophilia 10.1
28 thrombasthenia 10.1
29 shaken baby syndrome 10.1
30 griscelli syndrome, type 1 10.0 HPS4 BLOC1S6
31 griscelli syndrome 9.9 HPS4 BLOC1S6
32 albinism, oculocutaneous, type iii 9.9 HPS4 BLOC1S6
33 storage pool platelet disease 9.7 SNAPIN HPS4 BLOC1S6

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 hypopigmentation of the skin 31 HP:0001010
5 leukopenia 31 HP:0001882
6 congenital nystagmus 31 HP:0006934

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

UMLS symptoms related to Hermansky-Pudlak Syndrome 9:


abdominal pain

MGI Mouse Phenotypes related to Hermansky-Pudlak Syndrome 9:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.55 BLOC1S4 BLOC1S6 HOOK3 HPS4 SNAPIN
2 homeostasis/metabolism MP:0005376 9.43 BLOC1S4 BLOC1S6 HOOK3 HPS4 SNAPIN STXBP5L
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 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 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
Eye, Endothelial

Publications for Hermansky-Pudlak Syndrome 9

Articles related to Hermansky-Pudlak Syndrome 9:

(show all 14)
# Title Authors PMID Year
1
Exome sequencing reveals a pallidin mutation in a Hermansky-Pudlak-like primary immunodeficiency syndrome. 6 57
22461475 2012
2
A BLOC-1 mutation screen reveals that PLDN is mutated in Hermansky-Pudlak Syndrome type 9. 6 57
21665000 2011
3
Identification and clinical characterization of Hermansky-Pudlak syndrome alleles in the Pakistani population. 6
26575419 2016
4
A zinc transporter, transmembrane protein 163, is critical for the biogenesis of platelet dense granules. 61
33513603 2021
5
Current landscape of Oculocutaneous Albinism in Japan. 61
32969595 2021
6
The first Hermansky-Pudlak syndrome type 9 patient with two novel variants in Chinese population. 61
33543539 2021
7
Plasma lipidomic profiling in murine mutants of Hermansky-Pudlak syndrome reveals differential changes in pro- and anti-atherosclerotic lipids. 61
30710063 2019
8
Gene-edited MLE-15 Cells as a Model for the Hermansky-Pudlak Syndromes. 61
29190429 2018
9
Characterization of melanosomes and melanin in Japanese patients with Hermansky-Pudlak syndrome types 1, 4, 6, and 9. 61
29054114 2018
10
Dysregulation of PLDN (pallidin) is a mechanism for platelet dense granule deficiency in RUNX1 haplodeficiency. 61
28075530 2017
11
BLOC-2 subunit HPS6 deficiency affects the tubulation and secretion of von Willebrand factor from mouse endothelial cells. 61
27889498 2016
12
Generation of Hermansky-Pudlak Syndrome Type 1 (HPS1) induced pluripotent stem cells (iPSCs). 61
27345974 2016
13
Clinical, laboratory and molecular signs of immunodeficiency in patients with partial oculo-cutaneous albinism. 61
24134793 2013
14
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 33)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 BLOC1S6 NM_012388.3(BLOC1S6):c.232C>T (p.Gln78Ter) SNV Pathogenic 30412 rs201348482 GRCh37: 15:45895305-45895305
GRCh38: 15:45603107-45603107
2 BLOC1S6 NM_012388.4(BLOC1S6):c.319_320delinsAT (p.Glu107Met) Indel Likely pathogenic 827679 rs1595560288 GRCh37: 15:45897632-45897633
GRCh38: 15:45605434-45605435
3 BLOC1S6 NM_012388.4(BLOC1S6):c.200C>G (p.Ser67Ter) SNV Likely pathogenic 827680 rs772475341 GRCh37: 15:45884450-45884450
GRCh38: 15:45592252-45592252
4 BLOC1S6 NM_012388.3(BLOC1S6):c.294G>T (p.Met98Ile) SNV Conflicting interpretations of pathogenicity 522345 rs574333116 GRCh37: 15:45895367-45895367
GRCh38: 15:45603169-45603169
5 BLOC1S6 NM_012388.3(BLOC1S6):c.182T>G (p.Leu61Trp) SNV Uncertain significance 574164 rs1048656816 GRCh37: 15:45884432-45884432
GRCh38: 15:45592234-45592234
6 BLOC1S6 NM_012388.3(BLOC1S6):c.205C>G (p.Gln69Glu) SNV Uncertain significance 644972 rs775671194 GRCh37: 15:45884455-45884455
GRCh38: 15:45592257-45592257
7 BLOC1S6 NM_012388.3(BLOC1S6):c.391A>G (p.Lys131Glu) SNV Uncertain significance 654312 rs1339131805 GRCh37: 15:45897704-45897704
GRCh38: 15:45605506-45605506
8 BLOC1S6 NM_012388.3(BLOC1S6):c.196A>G (p.Arg66Gly) SNV Uncertain significance 654571 rs1595552977 GRCh37: 15:45884446-45884446
GRCh38: 15:45592248-45592248
9 BLOC1S6 NM_012388.3(BLOC1S6):c.131T>C (p.Ile44Thr) SNV Uncertain significance 656143 rs374731803 GRCh37: 15:45884381-45884381
GRCh38: 15:45592183-45592183
10 BLOC1S6 NM_012388.3(BLOC1S6):c.501A>T (p.Arg167Ser) SNV Uncertain significance 662802 rs775510569 GRCh37: 15:45898694-45898694
GRCh38: 15:45606496-45606496
11 BLOC1S6 NM_012388.3(BLOC1S6):c.421C>T (p.Gln141Ter) SNV Uncertain significance 666136 rs759015758 GRCh37: 15:45898614-45898614
GRCh38: 15:45606416-45606416
12 BLOC1S6 NM_012388.4(BLOC1S6):c.115A>G (p.Ile39Val) SNV Uncertain significance 950137 GRCh37: 15:45884365-45884365
GRCh38: 15:45592167-45592167
13 BLOC1S6 NM_012388.3(BLOC1S6):c.79C>T (p.Pro27Ser) SNV Uncertain significance 565888 rs138284359 GRCh37: 15:45879720-45879720
GRCh38: 15:45587522-45587522
14 BLOC1S6 NM_001311256.1(BLOC1S6):c.240-2267C>T SNV Uncertain significance 659712 rs1595559213 GRCh37: 15:45895359-45895359
GRCh38: 15:45603161-45603161
15 BLOC1S6 NM_012388.4(BLOC1S6):c.319G>A (p.Glu107Lys) SNV Uncertain significance 860081 GRCh37: 15:45897632-45897632
GRCh38: 15:45605434-45605434
16 BLOC1S6 NM_012388.4(BLOC1S6):c.103G>A (p.Asp35Asn) SNV Uncertain significance 944792 GRCh37: 15:45884353-45884353
GRCh38: 15:45592155-45592155
17 BLOC1S6 NM_012388.4(BLOC1S6):c.110G>A (p.Gly37Glu) SNV Uncertain significance 960854 GRCh37: 15:45884360-45884360
GRCh38: 15:45592162-45592162
18 BLOC1S6 NM_012388.4(BLOC1S6):c.82+6del Deletion Uncertain significance 971290 GRCh37: 15:45879729-45879729
GRCh38: 15:45587531-45587531
19 BLOC1S6 NM_012388.4(BLOC1S6):c.433A>G (p.Lys145Glu) SNV Uncertain significance 1011897 GRCh37: 15:45898626-45898626
GRCh38: 15:45606428-45606428
20 BLOC1S6 NM_012388.4(BLOC1S6):c.313-3A>T SNV Uncertain significance 1018229 GRCh37: 15:45897623-45897623
GRCh38: 15:45605425-45605425
21 BLOC1S6 NM_012388.4(BLOC1S6):c.43C>T (p.Arg15Trp) SNV Uncertain significance 1027192 GRCh37: 15:45879684-45879684
GRCh38: 15:45587486-45587486
22 BLOC1S6 NM_012388.4(BLOC1S6):c.82+12C>T SNV Uncertain significance 1033228 GRCh37: 15:45879735-45879735
GRCh38: 15:45587537-45587537
23 BLOC1S6 NM_012388.4(BLOC1S6):c.500G>C (p.Arg167Thr) SNV Uncertain significance 1034991 GRCh37: 15:45898693-45898693
GRCh38: 15:45606495-45606495
24 BLOC1S6 NM_012388.4(BLOC1S6):c.491dup (p.Leu164fs) Duplication Uncertain significance 1038957 GRCh37: 15:45898682-45898683
GRCh38: 15:45606484-45606485
25 BLOC1S6 NM_012388.4(BLOC1S6):c.315T>G (p.Phe105Leu) SNV Uncertain significance 1041663 GRCh37: 15:45897628-45897628
GRCh38: 15:45605430-45605430
26 BLOC1S6 NM_012388.4(BLOC1S6):c.47C>T (p.Pro16Leu) SNV Uncertain significance 1042331 GRCh37: 15:45879688-45879688
GRCh38: 15:45587490-45587490
27 BLOC1S6 NM_012388.4(BLOC1S6):c.330C>G (p.His110Gln) SNV Uncertain significance 1044338 GRCh37: 15:45897643-45897643
GRCh38: 15:45605445-45605445
28 BLOC1S6 NM_012388.4(BLOC1S6):c.469G>A (p.Glu157Lys) SNV Uncertain significance 1044941 GRCh37: 15:45898662-45898662
GRCh38: 15:45606464-45606464
29 BLOC1S6 NM_012388.4(BLOC1S6):c.187G>A (p.Asp63Asn) SNV Uncertain significance 858786 GRCh37: 15:45884437-45884437
GRCh38: 15:45592239-45592239
30 BLOC1S6 NM_012388.4(BLOC1S6):c.144A>T (p.Ala48=) SNV Likely benign 708957 rs372182517 GRCh37: 15:45884394-45884394
GRCh38: 15:45592196-45592196
31 BLOC1S6 NM_012388.4(BLOC1S6):c.252A>T (p.Thr84=) SNV Likely benign 739892 rs114872740 GRCh37: 15:45895325-45895325
GRCh38: 15:45603127-45603127
32 BLOC1S6 NM_012388.3(BLOC1S6):c.82+10A>G SNV Benign/Likely benign 316224 rs370370639 GRCh37: 15:45879733-45879733
GRCh38: 15:45587535-45587535
33 BLOC1S6 NM_012388.3(BLOC1S6):c.34G>A (p.Ala12Thr) SNV Benign 434516 rs145762743 GRCh37: 15:45879675-45879675
GRCh38: 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

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.36 SNAPIN HPS4 BLOC1S6 BLOC1S4
2
Show member pathways
11.18 SNAPIN BLOC1S6 BLOC1S4

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 9.73 STXBP5L SNAPIN HPS4 HOOK3 BLOC1S6 BLOC1S4
2 SNARE complex GO:0031201 9.16 STXBP5L BLOC1S6
3 axon cytoplasm GO:1904115 9.13 SNAPIN BLOC1S6 BLOC1S4
4 BLOC-1 complex GO:0031083 8.8 SNAPIN BLOC1S6 BLOC1S4

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

# Name GO ID Score Top Affiliating Genes
1 neuron projection development GO:0031175 9.5 SNAPIN BLOC1S6 BLOC1S4
2 blood coagulation GO:0007596 9.48 HPS4 BLOC1S6
3 exocytosis GO:0006887 9.46 STXBP5L SNAPIN
4 regulation of synaptic vesicle exocytosis GO:2000300 9.43 STXBP5L SNAPIN
5 lysosome organization GO:0007040 9.43 SNAPIN HPS4 HOOK3
6 endosome to lysosome transport GO:0008333 9.4 SNAPIN HOOK3
7 melanocyte differentiation GO:0030318 9.37 HPS4 BLOC1S6
8 anterograde axonal transport GO:0008089 9.33 SNAPIN BLOC1S6 BLOC1S4
9 melanosome organization GO:0032438 9.13 SNAPIN BLOC1S6 BLOC1S4
10 anterograde synaptic vesicle transport GO:0048490 8.8 SNAPIN BLOC1S6 BLOC1S4

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

# Name GO ID Score Top Affiliating Genes
1 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
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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