MCID: HRM009
MIFTS: 33

Hermansky-Pudlak Syndrome 6

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

Aliases & Classifications for Hermansky-Pudlak Syndrome 6

MalaCards integrated aliases for Hermansky-Pudlak Syndrome 6:

Name: Hermansky-Pudlak Syndrome 6 57 12 75 29 13 6 15 73
Hps6 57 75
Albinism with Hemorrhagic Diathesis and Pigmented Reticuloendothelial Cells 73
Albinism with Hemorrhagic Diathesis and Pigmented Reticuloendothelial 75
Hermansky-Pudlak Syndrome, Type 6 40
Platelet Storage Pool Deficiency 73
Delta Storage Pool Disease 75

Characteristics:

OMIM:

57
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 57 614075
Disease Ontology 12 DOID:0060544
MeSH 44 D022861

Summaries for Hermansky-Pudlak Syndrome 6

UniProtKB/Swiss-Prot : 75 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 abdominal pain 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 epistaxis and ocular albinism

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:

57
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 Gastrointestinal:
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:

32
# 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:

46
# 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 29 HPS6

Anatomical Context for Hermansky-Pudlak Syndrome 6

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

41
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 25)
# 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 NM_024747.5(HPS6): c.1713_1716delTCTG (p.Leu572Alafs) deletion Pathogenic rs281865113 GRCh38 Chromosome 10, 102067187: 102067190
3 HPS6 HPS6, 1-BP INS, 1066G insertion Pathogenic
4 HPS6 HPS6, 2-BP DEL, 1865TG deletion Pathogenic
5 HPS6 NM_024747.5(HPS6): c.913C> T (p.Gln305Ter) single nucleotide variant Pathogenic rs281865110 GRCh37 Chromosome 10, 103826144: 103826144
6 HPS6 NM_024747.5(HPS6): c.913C> T (p.Gln305Ter) single nucleotide variant Pathogenic rs281865110 GRCh38 Chromosome 10, 102066387: 102066387
7 HPS6 HPS6, 1-BP DUP, 238G duplication Pathogenic
8 HPS6 NM_024747.5(HPS6): c.815C> T (p.Thr272Ile) single nucleotide variant Pathogenic rs281865109 GRCh37 Chromosome 10, 103826046: 103826046
9 HPS6 NM_024747.5(HPS6): c.815C> T (p.Thr272Ile) single nucleotide variant Pathogenic rs281865109 GRCh38 Chromosome 10, 102066289: 102066289
10 HPS6 NM_024747.5(HPS6): c.223C> T (p.Gln75Ter) single nucleotide variant Pathogenic rs281865107 GRCh37 Chromosome 10, 103825454: 103825454
11 HPS6 NM_024747.5(HPS6): c.223C> T (p.Gln75Ter) single nucleotide variant Pathogenic rs281865107 GRCh38 Chromosome 10, 102065697: 102065697
12 HPS6 NM_024747.5(HPS6): c.1234C> T (p.Gln412Ter) single nucleotide variant Pathogenic rs281865112 GRCh37 Chromosome 10, 103826465: 103826465
13 HPS6 NM_024747.5(HPS6): c.1234C> T (p.Gln412Ter) single nucleotide variant Pathogenic rs281865112 GRCh38 Chromosome 10, 102066708: 102066708
14 NC_000005.10: g.104486890_104506841del19952 deletion Pathogenic GRCh37 Chromosome 5, 103822591: 103842542
15 NC_000005.10: g.104486890_104506841del19952 deletion Pathogenic GRCh38 Chromosome 5, 104486890: 104506841
16 HPS6 NM_024747.5(HPS6): c.238dupG (p.Asp80Glyfs) duplication Likely pathogenic rs281865108 GRCh38 Chromosome 10, 102065712: 102065712
17 HPS6 NM_024747.5(HPS6): c.238dupG (p.Asp80Glyfs) duplication Likely pathogenic rs281865108 GRCh37 Chromosome 10, 103825469: 103825469
18 HPS6 NM_024747.5(HPS6): c.1898delC (p.Pro633Leufs) deletion Pathogenic rs1131692332 GRCh37 Chromosome 10, 103827129: 103827129
19 HPS6 NM_024747.5(HPS6): c.1898delC (p.Pro633Leufs) deletion Pathogenic rs1131692332 GRCh38 Chromosome 10, 102067372: 102067372
20 HPS6 NM_024747.5(HPS6): c.2038C> T (p.Gln680Ter) single nucleotide variant Pathogenic rs1131692333 GRCh37 Chromosome 10, 103827269: 103827269
21 HPS6 NM_024747.5(HPS6): c.2038C> T (p.Gln680Ter) single nucleotide variant Pathogenic rs1131692333 GRCh38 Chromosome 10, 102067512: 102067512
22 HPS6 NM_024747.5(HPS6): c.1693T> G (p.Phe565Val) single nucleotide variant Likely pathogenic GRCh38 Chromosome 10, 102067167: 102067167
23 HPS6 NM_024747.5(HPS6): c.1693T> G (p.Phe565Val) single nucleotide variant Likely pathogenic GRCh37 Chromosome 10, 103826924: 103826924
24 HPS6 NM_024747.5(HPS6): c.1711_1712insAG (p.Cys571Terfs) insertion Pathogenic GRCh38 Chromosome 10, 102067185: 102067186
25 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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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