HPS9
MCID: HRM012
MIFTS: 37

Hermansky-Pudlak Syndrome 9 (HPS9)

Categories: Blood diseases, Cancer 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 58 12 76 30 13 6 15 74
Hps9 58 60 76
Albinism with Hemorrhagic Diathesis and Pigmented Reticuloendothelial Cells 74
Albinism with Hemorrhagic Diathesis and Pigmented Reticuloendothelial 76
Hermansky-Pudlak Syndrome, Type 9 41
Platelet Storage Pool Deficiency 74
Hermansky-Pudlak Syndrome Type 9 60
Delta Storage Pool Disease 76

Characteristics:

Orphanet epidemiological data:

60
hermansky-pudlak syndrome type 9
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
hermansky-pudlak syndrome 9:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060547
OMIM 58 614171
MeSH 45 D022861
ICD10 via Orphanet 35 E70.3
Orphanet 60 ORPHA280663
MedGen 43 C3280026

Summaries for Hermansky-Pudlak Syndrome 9

UniProtKB/Swiss-Prot : 76 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 isolated delta-storage pool disease, 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 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.

Description from OMIM: 614171

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:

33 (show all 6)
# Description HPO Frequency HPO Source Accession
1 thrombocytopenia 33 HP:0001873
2 hypopigmentation of the fundus 33 HP:0007894
3 ocular albinism 33 HP:0001107
4 leukopenia 33 HP:0001882
5 hypopigmentation of the skin 33 HP:0001010
6 congenital nystagmus 33 HP:0006934

Symptoms via clinical synopsis from OMIM:

58
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:

47
# 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
Erythromycin Approved, Investigational, Vet_approved Phase 1, Phase 2 114-07-8 12560 441411
4
Losartan Approved Phase 1, Phase 2 114798-26-4 3961
5
Angiotensin II Approved, Investigational Phase 1, Phase 2 68521-88-0, 11128-99-7, 4474-91-3 172198 65143
6
Pravastatin Approved Phase 1, Phase 2 81093-37-0 54687
7 Peripheral Nervous System Agents Phase 2,Phase 1
8 Anti-Inflammatory Agents Phase 2,Phase 1
9 Anti-Inflammatory Agents, Non-Steroidal Phase 2,Phase 1
10 Analgesics Phase 2,Phase 1
11 Antirheumatic Agents Phase 2,Phase 1
12 Analgesics, Non-Narcotic Phase 2,Phase 1
13 Protective Agents Phase 1, Phase 2
14 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 1, Phase 2
15 Leukotriene Antagonists Phase 1, Phase 2
16 Pharmaceutical Solutions Phase 1, Phase 2
17 Gastrointestinal Agents Phase 1, Phase 2,Phase 2
18 Antihypertensive Agents Phase 1, Phase 2
19 Erythromycin Estolate Phase 1, Phase 2
20 Erythromycin Ethylsuccinate Phase 1, Phase 2
21 Giapreza Phase 1, Phase 2
22 Lipid Regulating Agents Phase 1, Phase 2
23 Lipoxygenase Inhibitors Phase 1, Phase 2
24 Respiratory System Agents Phase 1, Phase 2
25 Anticholesteremic Agents Phase 1, Phase 2
26 Hormone Antagonists Phase 1, Phase 2
27 Hypolipidemic Agents Phase 1, Phase 2
28 Angiotensin II Type 1 Receptor Blockers Phase 1, Phase 2
29 Anti-Arrhythmia Agents Phase 1, Phase 2
30 Antimetabolites Phase 1, Phase 2,Phase 2
31 Free Radical Scavengers Phase 1, Phase 2
32 Hormones Phase 1, Phase 2
33 Angiotensinogen Phase 1, Phase 2
34 Anti-Infective Agents Phase 1, Phase 2
35 Anti-Bacterial Agents Phase 1, Phase 2
36 Antidotes Phase 1, Phase 2
37 Antiviral Agents Phase 1, Phase 2
38 Erythromycin stearate Phase 1, Phase 2
39 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 1, Phase 2
40 Angiotensin Receptor Antagonists Phase 1, Phase 2
41 Expectorants Phase 1, Phase 2
42 N-monoacetylcystine Phase 1, Phase 2
43 Antioxidants Phase 1, Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 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 Medical Treatment of Colitis in Patients With Hermansky-Pudlak Syndrome Withdrawn NCT00514982 Phase 2 Mesalamine;Infliximab;Corticosteroids;6-Mercaptopurine;Tacrolimus;Adalimumab
4 Study of Megakaryocytes From Patients With Abnormal Platelet Vesicles Completed NCT00086476
5 Clinical and Basic Investigations Into Hermansky-Pudlak Syndrome Recruiting NCT00001456
6 A Longitudinal Study of Hermansky-Pudlak Syndrome Pulmonary Fibrosis Recruiting NCT02368340
7 Clinical and Pathophysiological Investigations Into Erdheim Chester Disease Recruiting NCT01417520

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 30 BLOC1S6

Anatomical Context for Hermansky-Pudlak Syndrome 9

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

42
Skin, Eye

Publications for Hermansky-Pudlak Syndrome 9

Articles related to Hermansky-Pudlak Syndrome 9:

# Title Authors Year
1
Retraction Notice to: A BLOC-1 Mutation Screen Reveals that PLDN Is Mutated in Hermansky-Pudlak Syndrome Type 9. ( 28475864 )
2017
2
A BLOC-1 mutation screen reveals that PLDN is mutated in Hermansky- Pudlak Syndrome type 9. ( 21665000 )
2011

Variations for Hermansky-Pudlak Syndrome 9

ClinVar genetic disease variations for Hermansky-Pudlak Syndrome 9:

6 (show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 BLOC1S6 NM_012388.3(BLOC1S6): c.232C> T (p.Gln78Ter) single nucleotide variant Pathogenic rs201348482 GRCh37 Chromosome 15, 45895305: 45895305
2 BLOC1S6 NM_012388.3(BLOC1S6): c.232C> T (p.Gln78Ter) single nucleotide variant Pathogenic rs201348482 GRCh38 Chromosome 15, 45603107: 45603107
3 BLOC1S6 NM_012388.3(BLOC1S6): c.82+10A> G single nucleotide variant Conflicting interpretations of pathogenicity rs370370639 GRCh37 Chromosome 15, 45879733: 45879733
4 BLOC1S6 NM_012388.3(BLOC1S6): c.82+10A> G single nucleotide variant Conflicting interpretations of pathogenicity rs370370639 GRCh38 Chromosome 15, 45587535: 45587535
5 BLOC1S6 NM_012388.3(BLOC1S6): c.34G> A (p.Ala12Thr) single nucleotide variant Benign/Likely benign rs145762743 GRCh38 Chromosome 15, 45587477: 45587477
6 BLOC1S6 NM_012388.3(BLOC1S6): c.34G> A (p.Ala12Thr) single nucleotide variant Benign/Likely benign rs145762743 GRCh37 Chromosome 15, 45879675: 45879675
7 BLOC1S6 NM_012388.3(BLOC1S6): c.294G> T (p.Met98Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs574333116 GRCh37 Chromosome 15, 45895367: 45895367
8 BLOC1S6 NM_012388.3(BLOC1S6): c.294G> T (p.Met98Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs574333116 GRCh38 Chromosome 15, 45603169: 45603169
9 BLOC1S6 NM_012388.3(BLOC1S6): c.79C> T (p.Pro27Ser) single nucleotide variant Uncertain significance GRCh37 Chromosome 15, 45879720: 45879720
10 BLOC1S6 NM_012388.3(BLOC1S6): c.79C> T (p.Pro27Ser) single nucleotide variant Uncertain significance GRCh38 Chromosome 15, 45587522: 45587522
11 BLOC1S6 NM_012388.3(BLOC1S6): c.182T> G (p.Leu61Trp) single nucleotide variant Uncertain significance GRCh37 Chromosome 15, 45884432: 45884432
12 BLOC1S6 NM_012388.3(BLOC1S6): c.182T> G (p.Leu61Trp) single nucleotide variant Uncertain significance GRCh38 Chromosome 15, 45592234: 45592234

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 BLOC1S6 CD63

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 BLOC1S6 CD63
2 endosome to melanosome transport GO:0035646 8.62 BLOC1S6 CD63

Sources for Hermansky-Pudlak Syndrome 9

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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