MCID: HRM012
MIFTS: 32

Hermansky-Pudlak Syndrome 9

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

Aliases & Classifications for Hermansky-Pudlak Syndrome 9

MalaCards integrated aliases for Hermansky-Pudlak Syndrome 9:

Name: Hermansky-Pudlak Syndrome 9 53 12 71 28 13 14 69
Hps9 53 55 71
Albinism with Hemorrhagic Diathesis and Pigmented Reticuloendothelial Cells 69
Albinism with Hemorrhagic Diathesis and Pigmented Reticuloendothelial 71
Platelet Storage Pool Deficiency 69
Hermansky-Pudlak Syndrome Type 9 55
Delta Storage Pool Disease 71

Characteristics:

Orphanet epidemiological data:

55
hermansky-pudlak syndrome type 9
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

53
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:



External Ids:

OMIM 53 614171
Disease Ontology 12 DOID:0060547
Orphanet 55 ORPHA280663
ICD10 via Orphanet 33 E70.3
MedGen 39 C3280026
MeSH 41 D022861

Summaries for Hermansky-Pudlak Syndrome 9

UniProtKB/Swiss-Prot : 71 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 nystagmus, thrombocytopenia and hypopigmentation of the fundus. 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.

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:

53
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:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 nystagmus 31 HP:0000639
2 thrombocytopenia 31 HP:0001873
3 hypopigmentation of the fundus 31 HP:0007894
4 ocular albinism 31 HP:0001107
5 leukopenia 31 HP:0001882
6 hypopigmentation of the skin 31 HP:0001010
7 congenital nystagmus 31 HP:0006934

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 28 BLOC1S6

Anatomical Context for Hermansky-Pudlak Syndrome 9

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

38
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

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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