MCID: HRM009
MIFTS: 37

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

About this section

Aliases & Descriptions for Hermansky-Pudlak Syndrome 6:

Name: Hermansky-Pudlak Syndrome 6 49 10 11 22 67 24 65
Hps6 22 67
Albinism with Hemorrhagic Diathesis and Pigmented Reticuloendothelial Cells 65
Albinism with Hemorrhagic Diathesis and Pigmented Reticuloendothelial 67
 
Platelet Storage Pool Deficiency 65
Delta Storage Pool Disease 67
Hps 6 22

Characteristics:

HPO:

61
hermansky-pudlak syndrome 6:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 614075
Disease Ontology10 DOID:0060544
MedGen34 CN068617
MeSH36 D022861
UMLS65 C3888007, C2931875

Summaries for Hermansky-Pudlak Syndrome 6

About this section
UniProtKB/Swiss-Prot:67 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 breast cancer, 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, skin and eye, and related mouse phenotypes are pigmentation and renal/urinary system.

Disease Ontology:10 A type of Hermansky-Pudlak syndrome caused by homozygous or compound heterozygous mutation in the HPS6 gene on chromosome 10q24.

Description from OMIM:49 614075

Related Diseases for Hermansky-Pudlak Syndrome 6

About this section

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



Diseases related to hermansky-pudlak syndrome 6

Symptoms for Hermansky-Pudlak Syndrome 6

About this section


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

UMLS symptoms related to Hermansky-Pudlak Syndrome 6:


abdominal pain

Drugs & Therapeutics for Hermansky-Pudlak Syndrome 6

About this section

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

(show all 8)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
PirfenidoneinvestigationalPhase 24253179-13-840632
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
2Contraceptives, OralPhase 23734
3Peripheral Nervous System AgentsPhase 218510
4Antirheumatic AgentsPhase 28496
5Anti-Inflammatory Agents, Non-SteroidalPhase 23549
6Analgesics, Non-NarcoticPhase 25184
7Anti-Inflammatory AgentsPhase 28478
8AnalgesicsPhase 29358

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

About this section

Genetic tests related to Hermansky-Pudlak Syndrome 6:

id Genetic test Affiliating Genes
1 Hermansky-Pudlak Syndrome 622 HPS6

Anatomical Context for Hermansky-Pudlak Syndrome 6

About this section

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

33
Lung, Skin, Eye, Heart, Liver, Breast

Animal Models for Hermansky-Pudlak Syndrome 6 or affiliated genes

About this section

MGI Mouse Phenotypes related to Hermansky-Pudlak Syndrome 6:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.3HPS5, HPS6
2MP:00053679.1HPS5, HPS6
3MP:00053779.1HPS5, HPS6
4MP:00053829.0HPS5, HPS6

Publications for Hermansky-Pudlak Syndrome 6

About this section

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

About this section

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

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

Pathways for genes affiliated with Hermansky-Pudlak Syndrome 6

About this section

GO Terms for genes affiliated with Hermansky-Pudlak Syndrome 6

About this section

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

idNameGO IDScoreTop Affiliating Genes
1organelle organizationGO:00069969.1HPS5, HPS6
2blood coagulationGO:00075968.8HPS5, HPS6

Sources for Hermansky-Pudlak Syndrome 6

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet