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 54 12 24 71 29 13 14 69
Hps9 24 56 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 56
Delta Storage Pool Disease 71
Hps 9 24

Characteristics:

Orphanet epidemiological data:

56
hermansky-pudlak syndrome type 9
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

54
Miscellaneous:
based on report of 1 patient (last curated june 2017)

Inheritance:
autosomal recessive


HPO:

32
hermansky-pudlak syndrome 9:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 614171
Disease Ontology 12 DOID:0060547
Orphanet 56 ORPHA280663
ICD10 via Orphanet 34 E70.3
MedGen 40 C3280026
MeSH 42 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 isolated delta-storage pool disease and hermansky-pudlak syndrome 3, and has symptoms including nystagmus, congenital nystagmus 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:

54

Immunology:
recurrent cutaneous infections
leukopenia

Skin Nails & Hair- Skin:
cutaneous albinism

Hematology:
thrombocytopenia

Head And Neck- Eyes:
nystagmus
ocular albinism


Clinical features from OMIM:

614171

Human phenotypes related to Hermansky-Pudlak Syndrome 9:

32
id Description HPO Frequency HPO Source Accession
1 nystagmus 32 HP:0000639
2 congenital nystagmus 32 HP:0006934
3 hypopigmentation of the fundus 32 HP:0007894
4 hypopigmentation of the skin 32 HP:0001010

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:

id Genetic test Affiliating Genes
1 Hermansky-Pudlak Syndrome 9 29 24 BLOC1S6

Anatomical Context for Hermansky-Pudlak Syndrome 9

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

39
Lung, Skin, Eye

Publications for Hermansky-Pudlak Syndrome 9

Variations for Hermansky-Pudlak Syndrome 9

ClinVar genetic disease variations for Hermansky-Pudlak Syndrome 9:

6
id 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:

id Super pathways Score Top Affiliating Genes
1 11.12 CD63 RUNX1

GO Terms for Hermansky-Pudlak Syndrome 9

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

id 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:

id Name GO ID Score Top Affiliating Genes
1 pigmentation GO:0043473 8.65 BLOC1S6
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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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