MCID: HRM009
MIFTS: 35

Hermansky-Pudlak Syndrome 6 malady

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

Aliases & Classifications for Hermansky-Pudlak Syndrome 6

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Aliases & Descriptions for Hermansky-Pudlak Syndrome 6:

Name: Hermansky-Pudlak Syndrome 6 52 11 24 70 27 12 13 68
Hps6 24 70
Albinism with Hemorrhagic Diathesis and Pigmented Reticuloendothelial Cells 68
Albinism with Hemorrhagic Diathesis and Pigmented Reticuloendothelial 70
 
Platelet Storage Pool Deficiency 68
Delta Storage Pool Disease 70
Hps 6 24

Characteristics:

HPO:

64
hermansky-pudlak syndrome 6:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 614075
Disease Ontology11 DOID:0060544
MedGen37 CN068617
MeSH39 D022861

Summaries for Hermansky-Pudlak Syndrome 6

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UniProtKB/Swiss-Prot:70 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 oculocutaneous albinism, 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 integument.

Disease Ontology:11 A type of Hermansky-Pudlak syndrome that has material basis in homozygous or compound heterozygous mutation in the HPS6 gene on chromosome 10q24.

Description from OMIM:52 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 & Phenotypes for Hermansky-Pudlak Syndrome 6

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Clinical features from OMIM:

614075

Human phenotypes related to Hermansky-Pudlak Syndrome 6:

 64
id Description HPO Frequency HPO Source Accession
1 epistaxis64 HP:0000421
2 albinism64 HP:0001022
3 ocular albinism64 HP:0001107
4 impaired adp-induced platelet aggregation64 HP:0004866
5 abnormal platelet granules64 HP:0011883

UMLS symptoms related to Hermansky-Pudlak Syndrome 6:


abdominal pain

MGI Mouse Phenotypes related to Hermansky-Pudlak Syndrome 6 according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053829.3HPS5, HPS6, SP6
2MP:00107719.2HPS5, HPS6, SP6
3MP:00011869.0HPS5, HPS6

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):

(show all 7)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
PirfenidoneinvestigationalPhase 24953179-13-840632
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
2Peripheral Nervous System AgentsPhase 222776
3Antirheumatic AgentsPhase 210627
4Anti-Inflammatory Agents, Non-SteroidalPhase 24295
5Analgesics, Non-NarcoticPhase 26260
6Anti-Inflammatory AgentsPhase 210355
7AnalgesicsPhase 211287

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 627 24 HPS6

Anatomical Context for Hermansky-Pudlak Syndrome 6

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

36
Lung

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, 1066GinsertionPathogenicChr na, -1: -1
3HPS6HPS6, 2-BP DEL, 1865TGdeletionPathogenicChr na, -1: -1
4HPS6NM_024747.5(HPS6): c.913C> T (p.Gln305Ter)SNVPathogenicrs281865110GRCh37Chr 10, 103826144: 103826144
5HPS6HPS6, 1-BP DUP, 238GduplicationPathogenicChr na, -1: -1
6HPS6NM_024747.5(HPS6): c.815C> T (p.Thr272Ile)SNVPathogenicrs281865109GRCh37Chr 10, 103826046: 103826046
7HPS6NM_024747.5(HPS6): c.223C> T (p.Gln75Ter)SNVPathogenicrs281865107GRCh37Chr 10, 103825454: 103825454
8HPS6NM_024747.5(HPS6): c.1234C> T (p.Gln412Ter)SNVPathogenicrs281865112GRCh37Chr 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:00310849.0HPS5, HPS6

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

idNameGO IDScoreTop Affiliating Genes
1blood coagulationGO:00075969.5HPS5, HPS6
2organelle organizationGO:00069969.4HPS5, HPS6
3pigmentationGO:00434739.0HPS5, HPS6

Sources for Hermansky-Pudlak Syndrome 6

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet