MCID: HRM009
MIFTS: 33

Hermansky-Pudlak Syndrome 6

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

Aliases & Classifications for Hermansky-Pudlak Syndrome 6

MalaCards integrated aliases for Hermansky-Pudlak Syndrome 6:

Name: Hermansky-Pudlak Syndrome 6 53 12 71 28 13 14 69
Hps6 53 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

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
predominant manifestation is oculocutaneous albinism in some patients


HPO:

31
hermansky-pudlak syndrome 6:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 53 614075
Disease Ontology 12 DOID:0060544
MeSH 41 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 hermansky-pudlak syndrome and isolated delta-storage pool disease, 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). 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:

53
Head And Neck Eyes:
nystagmus
strabismus
reduced visual acuity
ocular albinism
macular hypoplasia
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:
prolonged bleeding time
bleeding tendency
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:

31
# Description HPO Frequency HPO Source Accession
1 epistaxis 31 HP:0000421
2 ocular albinism 31 HP:0001107
3 albinism 31 HP:0001022
4 abnormal platelet granules 31 HP:0011883
5 impaired adp-induced platelet aggregation 31 HP:0004866

UMLS symptoms related to Hermansky-Pudlak Syndrome 6:


abdominal pain

MGI Mouse Phenotypes related to Hermansky-Pudlak Syndrome 6:

43
# 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

Search Clinical Trials , NIH Clinical Center for Hermansky-Pudlak Syndrome 6

Genetic Tests for Hermansky-Pudlak Syndrome 6

Genetic tests related to Hermansky-Pudlak Syndrome 6:

# Genetic test Affiliating Genes
1 Hermansky-Pudlak Syndrome 6 28 HPS6

Anatomical Context for Hermansky-Pudlak Syndrome 6

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

38
Lung, Skin

Publications for Hermansky-Pudlak Syndrome 6

Articles related to Hermansky-Pudlak Syndrome 6:

# 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)
# Gene Variation Type Significance SNP ID Assembly Location
1 HPS6 HPS6, 1-BP INS, 1066G insertion Pathogenic
2 HPS6 HPS6, 2-BP DEL, 1865TG deletion Pathogenic
3 HPS6 NM_024747.5(HPS6): c.913C> T (p.Gln305Ter) single nucleotide variant Pathogenic rs281865110 GRCh37 Chromosome 10, 103826144: 103826144
4 HPS6 HPS6, 1-BP DUP, 238G duplication Pathogenic
5 HPS6 NM_024747.5(HPS6): c.815C> T (p.Thr272Ile) single nucleotide variant Pathogenic rs281865109 GRCh37 Chromosome 10, 103826046: 103826046
6 HPS6 NM_024747.5(HPS6): c.223C> T (p.Gln75Ter) single nucleotide variant Pathogenic rs281865107 GRCh37 Chromosome 10, 103825454: 103825454
7 HPS6 NM_024747.5(HPS6): c.1234C> T (p.Gln412Ter) single nucleotide variant Pathogenic rs281865112 GRCh37 Chromosome 10, 103826465: 103826465
8 NC_000005.10: g.104486890_104506841del19952 deletion Pathogenic GRCh37 Chromosome 5, 103822591: 103842542
9 HPS6 NM_024747.5(HPS6): c.1713_1716delTCTG (p.Leu572Alafs) deletion Pathogenic rs281865113 GRCh37 Chromosome 10, 103826944: 103826947
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:

# 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:

# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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