MCID: HRM009
MIFTS: 33

Hermansky-Pudlak Syndrome 6 malady

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

Aliases & Classifications for Hermansky-Pudlak Syndrome 6

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Aliases & Descriptions for Hermansky-Pudlak Syndrome 6:

Name: Hermansky-Pudlak Syndrome 6 50 11 23 68 25 12 66
Hps6 23 68
Albinism with Hemorrhagic Diathesis and Pigmented Reticuloendothelial 68
 
Delta Storage Pool Disease 68
Hps 6 23

Characteristics:

HPO:

62
hermansky-pudlak syndrome 6:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 614075
Disease Ontology11 DOID:0060544
MedGen35 CN068617
MeSH37 D022861

Summaries for Hermansky-Pudlak Syndrome 6

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UniProtKB/Swiss-Prot:68 Hermansky-Pudlak syndrome 6: 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 6, also known as hps6, is related to isolated delta-storage pool disease and hermansky-pudlak syndrome 2, and has symptoms including epistaxis, albinism and ocular albinism. An important gene associated with Hermansky-Pudlak Syndrome 6 is HPS6 (HPS6, Biogenesis Of Lysosomal Organelles Complex 2 Subunit 3). Affiliated tissues include lung, and related mouse phenotypes are craniofacial and hearing/vestibular/ear.

Disease Ontology:11 A type of hermansky-pudlak syndrome caused by homozygous or compound heterozygous mutation in the hps6 gene on chromosome 10q24.

Description from OMIM:50 614075

Related Diseases for Hermansky-Pudlak Syndrome 6

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Graphical network of diseases related to Hermansky-Pudlak Syndrome 6:



Diseases related to hermansky-pudlak syndrome 6

Symptoms for Hermansky-Pudlak Syndrome 6

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Clinical features from OMIM:

614075

HPO human phenotypes related to Hermansky-Pudlak Syndrome 6:

id Description Frequency HPO Source Accession
1 epistaxis HP:0000421
2 albinism HP:0001022
3 ocular albinism HP:0001107
4 impaired adp-induced platelet aggregation HP:0004866
5 abnormal platelet granules HP:0011883

Drugs & Therapeutics for Hermansky-Pudlak Syndrome 6

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Drugs for Hermansky-Pudlak Syndrome 6 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
PirfenidonePhase 24653179-13-840632
Synonyms:
5-21-07-00197 (Beilstein Handbook Reference)
5-Methyl-1-phenyl-1H-pyridin-2-one
5-Methyl-1-phenyl-2(1H)-pyridone
5-Methyl-1-phenyl-2-(1H)-pyridone
5-methyl-1-phenylpyridin-2(1H)-one
5-methyl-1-phenylpyridin-2-one
53179-13-8
AC-6797
AC1L2454
AMR 69
AMR-69
BRD-K96862998-001-03-1
BRN 1526549
Bio1_000397
Bio1_000886
Bio1_001375
C093844
C12H11NO
CID40632
D01583
Deskar
EN000704
EU-0100907
Esbriet
F-647
FT-0082541
 
I01-1466
KS-5041
LS-133834
Lopac-P-2116
Lopac0_000907
MLS000860042
NCGC00015806-01
NCGC00015806-03
NCGC00015806-05
NCGC00024992-01
NCGC00024992-02
NCGC00024992-03
P 2116
P2116_SIGMA
PIRFENIDONE
Pirespa
Pirfenidona
Pirfenidona [INN-Spanish]
Pirfenidone (Deskar)
Pirfenidone (JAN/USAN/INN)
Pirfenidone [USAN:INN]
Pirfenidonum
Pirfenidonum [INN-Latin]
S-7701
SMR000326900
Tocris-1093
ZINC00001958

Interventional clinical trials:

idNameStatusNCT IDPhase
1Oral Pirfenidone for the Pulmonary Fibrosis of Hermansky-Pudlak SyndromeActive, not recruitingNCT00001596Phase 2
2Medical Treatment of Colitis in Patients With Hermansky-Pudlak SyndromeWithdrawnNCT00514982Phase 2

Search NIH Clinical Center for Hermansky-Pudlak Syndrome 6

Genetic Tests for Hermansky-Pudlak Syndrome 6

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Genetic tests related to Hermansky-Pudlak Syndrome 6:

id Genetic test Affiliating Genes
1 Hermansky-Pudlak Syndrome 625 23 HPS6

Anatomical Context for Hermansky-Pudlak Syndrome 6

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MalaCards organs/tissues related to Hermansky-Pudlak Syndrome 6:

34
Lung

Animal Models for Hermansky-Pudlak Syndrome 6 or affiliated genes

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MGI Mouse Phenotypes related to Hermansky-Pudlak Syndrome 6:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053829.1HPS5, HPS6
2MP:00053779.0HPS5, HPS6
3MP:00011868.8HPS5, HPS6

Publications for Hermansky-Pudlak Syndrome 6

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Articles related to Hermansky-Pudlak Syndrome 6:

idTitleAuthorsYear
1
The ophthalmic presentation of Hermansky-Pudlak syndrome 6. (26823395)
2016

Variations for Hermansky-Pudlak Syndrome 6

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Clinvar genetic disease variations for Hermansky-Pudlak Syndrome 6:

5
id Gene Variation Type Significance SNP ID Assembly Location
1HPS6NM_024747.5(HPS6): c.238dupG (p.Asp80Glyfs)duplicationLikely pathogenicrs281865108GRCh37Chr 10, 103825469: 103825469
2HPS6HPS6, 1-BP INS, 1066GinsertionPathogenic
3HPS6HPS6, 2-BP DEL, 1865TGdeletionPathogenic
4HPS6NM_024747.5(HPS6): c.913C> T (p.Gln305Ter)single nucleotide variantPathogenicrs281865110GRCh37Chr 10, 103826144: 103826144
5HPS6HPS6, 1-BP DUP, 238GduplicationPathogenic
6HPS6NM_024747.5(HPS6): c.815C> T (p.Thr272Ile)single nucleotide variantPathogenicrs281865109GRCh37Chr 10, 103826046: 103826046
7HPS6NM_024747.5(HPS6): c.223C> T (p.Gln75Ter)single nucleotide variantPathogenicrs281865107GRCh37Chr 10, 103825454: 103825454
8HPS6NM_024747.5(HPS6): c.1234C> T (p.Gln412Ter)single nucleotide variantPathogenicrs281865112GRCh37Chr 10, 103826465: 103826465
9HPS6NM_024747.5(HPS6): c.1713_1716delTCTG (p.Leu572Alafs)deletionPathogenicrs281865113GRCh37Chr 10, 103826944: 103826947
10NC_000005.10: g.104486890_104506841del19952deletionPathogenicGRCh37Chr 5, 103822591: 103842542

Expression for genes affiliated with Hermansky-Pudlak Syndrome 6

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Search GEO for disease gene expression data for Hermansky-Pudlak Syndrome 6.

Pathways for genes affiliated with Hermansky-Pudlak Syndrome 6

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GO Terms for genes affiliated with Hermansky-Pudlak Syndrome 6

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Cellular components related to Hermansky-Pudlak Syndrome 6 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1BLOC-2 complexGO:00310849.1HPS5, HPS6

Biological processes related to Hermansky-Pudlak Syndrome 6 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1organelle organizationGO:00069969.4HPS5, HPS6
2pigmentationGO:00434739.1HPS5, HPS6
3blood coagulationGO:00075968.8HPS5, HPS6

Sources for Hermansky-Pudlak Syndrome 6

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet