MCID: HRM009
MIFTS: 39

Hermansky-Pudlak Syndrome 6

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

Aliases & Classifications for Hermansky-Pudlak Syndrome 6

MalaCards integrated aliases for Hermansky-Pudlak Syndrome 6:

Name: Hermansky-Pudlak Syndrome 6 54 12 24 71 29 13 14 69
Hps6 24 71
Albinism with Hemorrhagic Diathesis and Pigmented Reticuloendothelial Cells 69
Albinism with Hemorrhagic Diathesis and Pigmented Reticuloendothelial 71
Platelet Storage Pool Deficiency 69
Delta Storage Pool Disease 71
Hps 6 24

Characteristics:

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
predominant manifestation is oculocutaneous albinism in some patients


HPO:

32
hermansky-pudlak syndrome 6:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 614075
Disease Ontology 12 DOID:0060544
MedGen 40 CN068617
MeSH 42 D022861

Summaries for Hermansky-Pudlak Syndrome 6

UniProtKB/Swiss-Prot : 71 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, ocular albinism and albinism. An important gene associated with Hermansky-Pudlak Syndrome 6 is HPS6 (HPS6, Biogenesis Of Lysosomal Organelles Complex 2 Subunit 3). The drugs Pirfenidone and Analgesics have been mentioned in the context of this disorder. Affiliated tissues include lung and skin, and related phenotypes are craniofacial and integument

Disease Ontology : 12 A Hermansky-Pudlak syndrome that has material basis in homozygous or compound heterozygous mutation in the HPS6 gene on chromosome 10q24.

Description from OMIM: 614075

Related Diseases for Hermansky-Pudlak Syndrome 6

Graphical network of the top 20 diseases related to Hermansky-Pudlak Syndrome 6:



Diseases related to Hermansky-Pudlak Syndrome 6

Symptoms & Phenotypes for Hermansky-Pudlak Syndrome 6

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Eyes:
nystagmus
strabismus
reduced visual acuity
macular hypoplasia
iris transillumination
more
Skin Nails & Hair- Skin:
easy bruising
light or hypopigmented skin compared to unaffected family members
recurrent purulent skin infections (in some patients)

Head And Neck- Nose:
frequent nosebleeds (in some patients)

Abdomen- Gastroin testinal:
no granulomatous colitis reported

Skin Nails & Hair- Nails:
slow nail growth (1 patient)

Neurologic- Central Nervous System:
global developmental delay (1 patient)

Hematology:
bleeding tendency
prolonged bleeding time
platelets show reduced secretion in response to atp
platelets lack dense bodies on electron microscopy

Respiratory- Nasopharynx:
frequent upper respiratory tract infections
no pulmonary fibrosis reported

Head And Neck- Teeth:
prolonged bleeding on dental extractions (1 patient)

Genitourinary- Internal Genitalia Female:
heavy menstruation

Skin Nails & Hair- Hair:
fair or lighter-colored scalp hair, eyebrows, and eyelashes than unaffected family members


Clinical features from OMIM:

614075

Human phenotypes related to Hermansky-Pudlak Syndrome 6:

32
id Description HPO Frequency HPO Source Accession
1 epistaxis 32 HP:0000421
2 ocular albinism 32 HP:0001107
3 albinism 32 HP:0001022
4 abnormal platelet granules 32 HP:0011883
5 impaired adp-induced platelet aggregation 32 HP:0004866

UMLS symptoms related to Hermansky-Pudlak Syndrome 6:


abdominal pain

MGI Mouse Phenotypes related to Hermansky-Pudlak Syndrome 6:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.33 HPS5 HPS6 SP6
2 integument MP:0010771 9.13 HPS5 HPS6 SP6
3 pigmentation MP:0001186 8.62 HPS5 HPS6

Drugs & Therapeutics for Hermansky-Pudlak Syndrome 6

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

(show all 7)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Pirfenidone Investigational Phase 2 53179-13-8 40632
2 Analgesics Phase 2
3 Analgesics, Non-Narcotic Phase 2
4 Anti-Inflammatory Agents Phase 2
5 Anti-Inflammatory Agents, Non-Steroidal Phase 2
6 Antirheumatic Agents Phase 2
7 Peripheral Nervous System Agents Phase 2

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Oral Pirfenidone for the Pulmonary Fibrosis of Hermansky-Pudlak Syndrome Active, not recruiting NCT00001596 Phase 2 Pirfenidone;Placebo
2 Medical Treatment of Colitis in Patients With Hermansky-Pudlak Syndrome Withdrawn NCT00514982 Phase 2 Mesalamine;Infliximab;Corticosteroids;6-Mercaptopurine;Tacrolimus;Adalimumab

Search NIH Clinical Center for Hermansky-Pudlak Syndrome 6

Genetic Tests for Hermansky-Pudlak Syndrome 6

Genetic tests related to Hermansky-Pudlak Syndrome 6:

id Genetic test Affiliating Genes
1 Hermansky-Pudlak Syndrome 6 29 24 HPS6

Anatomical Context for Hermansky-Pudlak Syndrome 6

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

39
Lung, Skin

Publications for Hermansky-Pudlak Syndrome 6

Articles related to Hermansky-Pudlak Syndrome 6:

id Title Authors Year
1
The ophthalmic presentation of Hermansky-Pudlak syndrome 6. ( 26823395 )
2016

Variations for Hermansky-Pudlak Syndrome 6

ClinVar genetic disease variations for Hermansky-Pudlak Syndrome 6:

6 (show all 14)
id Gene Variation Type Significance SNP ID Assembly Location
1 HPS6 NM_024747.5(HPS6): c.1713_1716delTCTG (p.Leu572Alafs) deletion Pathogenic rs281865113 GRCh37 Chromosome 10, 103826944: 103826947
2 HPS6 HPS6, 1-BP INS, 1066G insertion Pathogenic
3 HPS6 HPS6, 2-BP DEL, 1865TG deletion Pathogenic
4 HPS6 NM_024747.5(HPS6): c.913C> T (p.Gln305Ter) single nucleotide variant Pathogenic rs281865110 GRCh37 Chromosome 10, 103826144: 103826144
5 HPS6 HPS6, 1-BP DUP, 238G duplication Pathogenic
6 HPS6 NM_024747.5(HPS6): c.815C> T (p.Thr272Ile) single nucleotide variant Pathogenic rs281865109 GRCh37 Chromosome 10, 103826046: 103826046
7 HPS6 NM_024747.5(HPS6): c.223C> T (p.Gln75Ter) single nucleotide variant Pathogenic rs281865107 GRCh37 Chromosome 10, 103825454: 103825454
8 HPS6 NM_024747.5(HPS6): c.1234C> T (p.Gln412Ter) single nucleotide variant Pathogenic rs281865112 GRCh37 Chromosome 10, 103826465: 103826465
9 NC_000005.10: g.104486890_104506841del19952 deletion Pathogenic GRCh37 Chromosome 5, 103822591: 103842542
10 HPS6 NM_024747.5(HPS6): c.238dupG (p.Asp80Glyfs) duplication Likely pathogenic rs281865108 GRCh37 Chromosome 10, 103825469: 103825469
11 HPS6 NM_024747.5(HPS6): c.1898delC (p.Pro633Leufs) deletion Pathogenic rs1131692332 GRCh37 Chromosome 10, 103827129: 103827129
12 HPS6 NM_024747.5(HPS6): c.2038C> T (p.Gln680Ter) single nucleotide variant Pathogenic rs1131692333 GRCh37 Chromosome 10, 103827269: 103827269
13 HPS6 NM_024747.5(HPS6): c.1693T> G (p.Phe565Val) single nucleotide variant Likely pathogenic GRCh37 Chromosome 10, 103826924: 103826924
14 HPS6 NM_024747.5(HPS6): c.1711_1712insAG (p.Cys571Terfs) insertion Pathogenic GRCh37 Chromosome 10, 103826942: 103826943

Expression for Hermansky-Pudlak Syndrome 6

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

Pathways for Hermansky-Pudlak Syndrome 6

GO Terms for Hermansky-Pudlak Syndrome 6

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

id Name GO ID Score Top Affiliating Genes
1 BLOC-2 complex GO:0031084 8.62 HPS5 HPS6

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

id Name GO ID Score Top Affiliating Genes
1 blood coagulation GO:0007596 9.16 HPS5 HPS6
2 pigmentation GO:0043473 8.96 HPS5 HPS6
3 organelle organization GO:0006996 8.62 HPS5 HPS6

Sources for Hermansky-Pudlak Syndrome 6

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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