MCID: HRM012
MIFTS: 32

Hermansky-Pudlak Syndrome 9

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

Aliases & Classifications for Hermansky-Pudlak Syndrome 9

MalaCards integrated aliases for Hermansky-Pudlak Syndrome 9:

Name: Hermansky-Pudlak Syndrome 9 57 12 75 29 13 6 15 73
Hps9 57 59 75
Albinism with Hemorrhagic Diathesis and Pigmented Reticuloendothelial Cells 73
Albinism with Hemorrhagic Diathesis and Pigmented Reticuloendothelial 75
Hermansky-Pudlak Syndrome, Type 9 40
Platelet Storage Pool Deficiency 73
Hermansky-Pudlak Syndrome Type 9 59
Delta Storage Pool Disease 75

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:

OMIM 57 614171
Disease Ontology 12 DOID:0060547
Orphanet 59 ORPHA280663
ICD10 via Orphanet 34 E70.3
MedGen 42 C3280026
MeSH 44 D022861

Summaries for Hermansky-Pudlak Syndrome 9

UniProtKB/Swiss-Prot : 75 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), and among its related pathways/superpathways is NF-kappaB Signaling. Affiliated tissues include lung, skin and eye, and related phenotypes are hypopigmentation of the skin and ocular albinism

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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
ocular albinism
nystagmus

Hematology:
thrombocytopenia

Skin Nails Hair Skin:
cutaneous albinism

Immunology:
leukopenia
recurrent cutaneous infections


Clinical features from OMIM:

614171

Human phenotypes related to Hermansky-Pudlak Syndrome 9:

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

UMLS symptoms related to Hermansky-Pudlak Syndrome 9:


abdominal pain

Drugs & Therapeutics for Hermansky-Pudlak Syndrome 9

Search Clinical Trials , 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

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
# 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 Likely benign rs574333116 GRCh37 Chromosome 15, 45895367: 45895367
8 BLOC1S6 NM_012388.3(BLOC1S6): c.294G> T (p.Met98Ile) single nucleotide variant Likely benign rs574333116 GRCh38 Chromosome 15, 45603169: 45603169

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 11.14 CD63 RUNX1

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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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