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

About this section

Aliases & Descriptions for Hermansky-Pudlak Syndrome 6:

Name: Hermansky-Pudlak Syndrome 6 51 11 24 69 26 12 13 67
Hps6 24 69
Albinism with Hemorrhagic Diathesis and Pigmented Reticuloendothelial Cells 67
Albinism with Hemorrhagic Diathesis and Pigmented Reticuloendothelial 69
 
Platelet Storage Pool Deficiency 67
Delta Storage Pool Disease 69
Hps 6 24

Characteristics:

HPO:

63
hermansky-pudlak syndrome 6:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM51 614075
Disease Ontology11 DOID:0060544
MedGen36 CN068617
MeSH38 D022861

Summaries for Hermansky-Pudlak Syndrome 6

About this section
UniProtKB/Swiss-Prot:69 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:51 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

Human phenotypes related to Hermansky-Pudlak Syndrome 6:

 63
id Description HPO Frequency HPO Source Accession
1 epistaxis63 HP:0000421
2 albinism63 HP:0001022
3 ocular albinism63 HP:0001107
4 impaired adp-induced platelet aggregation63 HP:0004866
5 abnormal platelet granules63 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 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

About this section

Genetic tests related to Hermansky-Pudlak Syndrome 6:

id Genetic test Affiliating Genes
1 Hermansky-Pudlak Syndrome 626 24 HPS6

Anatomical Context for Hermansky-Pudlak Syndrome 6

About this section

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

35
Lung

Animal Models for Hermansky-Pudlak Syndrome 6 or affiliated genes

About this section

MGI Mouse Phenotypes related to Hermansky-Pudlak Syndrome 6:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053829.3HPS5, HPS6, SP6
2MP:00107719.2HPS5, HPS6, SP6
3MP:00011869.0HPS5, 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, 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

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

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
1organelle organizationGO:00069969.3HPS5, HPS6
2pigmentationGO:00434739.0HPS5, HPS6
3blood coagulationGO:00075968.7HPS5, HPS6

Sources for Hermansky-Pudlak Syndrome 6

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet