HPS9
MCID: HRM012
MIFTS: 39

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 57 12 74 29 13 6 15 72
Hps9 57 59 74
Albinism with Hemorrhagic Diathesis and Pigmented Reticuloendothelial Cells 72
Albinism with Hemorrhagic Diathesis and Pigmented Reticuloendothelial 74
Hermansky-Pudlak Syndrome, Type 9 40
Platelet Storage Pool Deficiency 72
Hermansky-Pudlak Syndrome Type 9 59
Delta Storage Pool Disease 74

Characteristics:

Orphanet epidemiological data:

59
hermansky-pudlak syndrome type 9
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
hermansky-pudlak syndrome 9:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060547
MeSH 44 D022861
ICD10 via Orphanet 34 E70.3
Orphanet 59 ORPHA280663
MedGen 42 C3280026
UMLS 72 C0032197 C2931875 C3280026

Summaries for Hermansky-Pudlak Syndrome 9

UniProtKB/Swiss-Prot : 74 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 Acetylcysteine 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:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 thrombocytopenia 32 HP:0001873
2 hypopigmentation of the fundus 32 HP:0007894
3 ocular albinism 32 HP:0001107
4 leukopenia 32 HP:0001882
5 hypopigmentation of the skin 32 HP:0001010
6 congenital nystagmus 32 HP:0006934

Symptoms via clinical synopsis from OMIM:

57
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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 renal/urinary system MP:0005367 8.62 BLOC1S6 CD63

Drugs & Therapeutics for Hermansky-Pudlak Syndrome 9

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

(show all 43)
# 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
Losartan Approved Phase 1, Phase 2 114798-26-4 3961
4
Angiotensin II Approved, Investigational Phase 1, Phase 2 11128-99-7, 68521-88-0, 4474-91-3 172198
5
Erythromycin Approved, Investigational, Vet_approved Phase 1, Phase 2 114-07-8 441411 12560
6
Pravastatin Approved Phase 1, Phase 2 81093-37-0 54687
7 Analgesics Phase 1, Phase 2
8 Anti-Inflammatory Agents Phase 1, Phase 2
9 Antihypertensive Agents Phase 1, Phase 2
10 Hormones Phase 1, Phase 2
11 Angiotensinogen Phase 1, Phase 2
12 Antidotes Phase 1, Phase 2
13 Lipoxygenase Inhibitors Phase 1, Phase 2
14 Gastrointestinal Agents Phase 1, Phase 2
15 Pharmaceutical Solutions Phase 1, Phase 2
16 Antioxidants Phase 1, Phase 2
17 Giapreza Phase 1, Phase 2
18 Angiotensin Receptor Antagonists Phase 1, Phase 2
19 N-monoacetylcystine Phase 1, Phase 2
20 Angiotensin II Type 1 Receptor Blockers Phase 1, Phase 2
21 Peripheral Nervous System Agents Phase 1, Phase 2
22 Free Radical Scavengers Phase 1, Phase 2
23 Anti-Bacterial Agents Phase 1, Phase 2
24 Anti-Infective Agents Phase 1, Phase 2
25 Erythromycin stearate Phase 1, Phase 2
26 Hormone Antagonists Phase 1, Phase 2
27 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 1, Phase 2
28 Respiratory System Agents Phase 1, Phase 2
29 Protective Agents Phase 1, Phase 2
30 Erythromycin Ethylsuccinate Phase 1, Phase 2
31 Erythromycin Estolate Phase 1, Phase 2
32 Anti-Arrhythmia Agents Phase 1, Phase 2
33 Expectorants Phase 1, Phase 2
34 Lipid Regulating Agents Phase 1, Phase 2
35 Hypolipidemic Agents Phase 1, Phase 2
36 Anticholesteremic Agents Phase 1, Phase 2
37 Analgesics, Non-Narcotic Phase 1, Phase 2
38 Leukotriene Antagonists Phase 1, Phase 2
39 Anti-Inflammatory Agents, Non-Steroidal Phase 1, Phase 2
40 Antiviral Agents Phase 1, Phase 2
41 Antirheumatic Agents Phase 1, Phase 2
42 Antimetabolites Phase 1, Phase 2
43 Hormones, Hormone Substitutes, and Hormone Antagonists 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:

41
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. 8 71
22461475 2012
2
A BLOC-1 mutation screen reveals that PLDN is mutated in Hermansky-Pudlak Syndrome type 9. 8
21665000 2011
3
Hermansky-Pudlak Syndrome 71
20301464 2000
4
Plasma lipidomic profiling in murine mutants of Hermansky-Pudlak syndrome reveals differential changes in pro- and anti-atherosclerotic lipids. 38
30710063 2019
5
Gene-edited MLE-15 Cells as a Model for the Hermansky-Pudlak Syndromes. 38
29190429 2018
6
Characterization of melanosomes and melanin in Japanese patients with Hermansky-Pudlak syndrome types 1, 4, 6, and 9. 38
29054114 2018
7
Dysregulation of PLDN (pallidin) is a mechanism for platelet dense granule deficiency in RUNX1 haplodeficiency. 38
28075530 2017
8
BLOC-2 subunit HPS6 deficiency affects the tubulation and secretion of von Willebrand factor from mouse endothelial cells. 38
27889498 2016
9
Generation of Hermansky-Pudlak Syndrome Type 1 (HPS1) induced pluripotent stem cells (iPSCs). 38
27345974 2016
10
Clinical, laboratory and molecular signs of immunodeficiency in patients with partial oculo-cutaneous albinism. 38
24134793 2013
11
An association study of the Hermansky-Pudlak syndrome type 4 gene in schizophrenic patients. 38
23563589 2013

Variations for Hermansky-Pudlak Syndrome 9

ClinVar genetic disease variations for Hermansky-Pudlak Syndrome 9:

6 (show all 13)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 BLOC1S6 NM_012388.3(BLOC1S6): c.232C> T (p.Gln78Ter) single nucleotide variant Pathogenic rs201348482 15:45895305-45895305 15:45603107-45603107
2 BLOC1S6 NM_012388.3(BLOC1S6): c.294G> T (p.Met98Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs574333116 15:45895367-45895367 15:45603169-45603169
3 BLOC1S6 NM_012388.3(BLOC1S6): c.82+10A> G single nucleotide variant Conflicting interpretations of pathogenicity rs370370639 15:45879733-45879733 15:45587535-45587535
4 BLOC1S6 NM_012388.3(BLOC1S6): c.79C> T (p.Pro27Ser) single nucleotide variant Uncertain significance 15:45879720-45879720 15:45587522-45587522
5 BLOC1S6 NM_012388.3(BLOC1S6): c.182T> G (p.Leu61Trp) single nucleotide variant Uncertain significance 15:45884432-45884432 15:45592234-45592234
6 BLOC1S6 NM_012388.3(BLOC1S6): c.131T> C (p.Ile44Thr) single nucleotide variant Uncertain significance 15:45884381-45884381 15:45592183-45592183
7 BLOC1S6 NM_012388.3(BLOC1S6): c.196A> G (p.Arg66Gly) single nucleotide variant Uncertain significance 15:45884446-45884446 15:45592248-45592248
8 BLOC1S6 NM_012388.3(BLOC1S6): c.205C> G (p.Gln69Glu) single nucleotide variant Uncertain significance 15:45884455-45884455 15:45592257-45592257
9 BLOC1S6 NM_012388.3(BLOC1S6): c.286C> T (p.His96Tyr) single nucleotide variant Uncertain significance 15:45895359-45895359 15:45603161-45603161
10 BLOC1S6 NM_012388.3(BLOC1S6): c.391A> G (p.Lys131Glu) single nucleotide variant Uncertain significance 15:45897704-45897704 15:45605506-45605506
11 BLOC1S6 NM_012388.3(BLOC1S6): c.421C> T (p.Gln141Ter) single nucleotide variant Uncertain significance 15:45898614-45898614 15:45606416-45606416
12 BLOC1S6 NM_012388.3(BLOC1S6): c.501A> T (p.Arg167Ser) single nucleotide variant Uncertain significance 15:45898694-45898694 15:45606496-45606496
13 BLOC1S6 NM_012388.3(BLOC1S6): c.34G> A (p.Ala12Thr) single nucleotide variant Benign/Likely benign 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 endosome GO:0005768 8.62 CD63 BLOC1S6

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

# Name GO ID Score Top Affiliating Genes
1 pigmentation GO:0043473 8.96 CD63 BLOC1S6
2 endosome to melanosome transport GO:0035646 8.62 CD63 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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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