MCID: HRM008
MIFTS: 41

Hermansky-Pudlak Syndrome 5

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

Aliases & Classifications for Hermansky-Pudlak Syndrome 5

MalaCards integrated aliases for Hermansky-Pudlak Syndrome 5:

Name: Hermansky-Pudlak Syndrome 5 57 12 75 29 13 6 15 73
Hps5 57 75
Albinism with Hemorrhagic Diathesis and Pigmented Reticuloendothelial Cells 73
Albinism with Hemorrhagic Diathesis and Pigmented Reticuloendothelial 75
Hermansky-Pudlak Syndrome, Type 5 40
Platelet Storage Pool Deficiency 73
Delta Storage Pool Disease 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
patients do not exhibit granulomatous colitis or pulmonary fibrosis


HPO:

32
hermansky-pudlak syndrome 5:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Hermansky-Pudlak Syndrome 5

OMIM : 57 Hermansky-Pudlak syndrome-5 (HPS5) is characterized by oculocutaneous albinism, a bleeding diathesis, and lack of platelet dense bodies. HPS5 appears to be a milder form of the syndrome because the complications present in other forms of HPS, such as pulmonary fibrosis, granulomatous colitis, and neutropenia, have not been reported in HPS5 patients (Ringeisen et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of Hermansky-Pudlak syndrome, see HPS1 (203300). (614074)

MalaCards based summary : Hermansky-Pudlak Syndrome 5, also known as hps5, is related to isolated delta-storage pool disease and hermansky-pudlak syndrome 1, and has symptoms including abdominal pain An important gene associated with Hermansky-Pudlak Syndrome 5 is HPS5 (HPS5, Biogenesis Of Lysosomal Organelles Complex 2 Subunit 2), and among its related pathways/superpathways are Pyruvate metabolism and Propanoate metabolism. Affiliated tissues include lung and skin, and related phenotypes are bruising susceptibility and albinism

Disease Ontology : 12 A Hermansky-Pudlak syndrome that has material basis in homozygous mutation in the HPS5 gene on chromosome 11p14.

UniProtKB/Swiss-Prot : 75 Hermansky-Pudlak syndrome 5: 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.

Related Diseases for Hermansky-Pudlak Syndrome 5

Graphical network of the top 20 diseases related to Hermansky-Pudlak Syndrome 5:



Diseases related to Hermansky-Pudlak Syndrome 5

Symptoms & Phenotypes for Hermansky-Pudlak Syndrome 5

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
strabismus
reduced visual acuity
horizontal nystagmus
ocular albinism
foveal hypoplasia
more
Genitourinary Internal Genitalia Female:
menorrhagia

Hematology:
bleeding tendency
absence of platelet dense bodies
reduced platelet count, moderate
prolonged bleeding time, moderate

Laboratory Abnormalities:
elevated cholesterol (in some patients)
elevated triglycerides (in some patients)

Head And Neck Nose:
epistaxis

Skin Nails Hair Skin:
easy bruising
fair skin relative to unaffected family members

Skin Nails Hair Hair:
fair hair relative to unaffected family members


Clinical features from OMIM:

614074

Human phenotypes related to Hermansky-Pudlak Syndrome 5:

32
# Description HPO Frequency HPO Source Accession
1 bruising susceptibility 32 HP:0000978
2 albinism 32 HP:0001022
3 ocular albinism 32 HP:0001107
4 thrombocytopenia 32 HP:0001873

UMLS symptoms related to Hermansky-Pudlak Syndrome 5:


abdominal pain

MGI Mouse Phenotypes related to Hermansky-Pudlak Syndrome 5:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.97 BACE1 HNF1B HPS5 HPS6 LDHA LEPR
2 integument MP:0010771 9.73 HPS6 LEPR RAB38 VPS33A BACE1 HPS5
3 no phenotypic analysis MP:0003012 9.55 BACE1 HPS5 LDHC LEPR RAB38
4 pigmentation MP:0001186 9.26 HPS5 HPS6 RAB38 VPS33A
5 renal/urinary system MP:0005367 9.02 HNF1B HPS5 HPS6 LEPR VPS33A

Drugs & Therapeutics for Hermansky-Pudlak Syndrome 5

Search Clinical Trials , NIH Clinical Center for Hermansky-Pudlak Syndrome 5

Genetic Tests for Hermansky-Pudlak Syndrome 5

Genetic tests related to Hermansky-Pudlak Syndrome 5:

# Genetic test Affiliating Genes
1 Hermansky-Pudlak Syndrome 5 29 HPS5

Anatomical Context for Hermansky-Pudlak Syndrome 5

MalaCards organs/tissues related to Hermansky-Pudlak Syndrome 5:

41
Lung, Skin

Publications for Hermansky-Pudlak Syndrome 5

Articles related to Hermansky-Pudlak Syndrome 5:

# Title Authors Year
1
Simple chronic colitis model using hypopigmented mice with a Hermansky-Pudlak syndrome 5 gene mutation. ( 27333462 )
2016
2
The Drosophila pigmentation gene pink (p) encodes a homologue of human Hermansky-Pudlak syndrome 5 (HPS5). ( 17156100 )
2007
3
The pink gene encodes the Drosophila orthologue of the human Hermansky-Pudlak syndrome 5 (HPS5) gene. ( 17632576 )
2007

Variations for Hermansky-Pudlak Syndrome 5

UniProtKB/Swiss-Prot genetic disease variations for Hermansky-Pudlak Syndrome 5:

75
# Symbol AA change Variation ID SNP ID
1 HPS5 p.Leu624Arg VAR_062285 rs281865102
2 HPS5 p.Thr1098Ile VAR_062286 rs61884288

ClinVar genetic disease variations for Hermansky-Pudlak Syndrome 5:

6
(show all 43)
# Gene Variation Type Significance SNP ID Assembly Location
1 HPS5 NM_181507.1(HPS5): c.2025_2028delAGTT (p.Val676Metfs) deletion Pathogenic rs281865103 GRCh37 Chromosome 11, 18313401: 18313404
2 HPS5 NM_181507.1(HPS5): c.2025_2028delAGTT (p.Val676Metfs) deletion Pathogenic rs281865103 GRCh38 Chromosome 11, 18291854: 18291857
3 HPS5 NM_181507.1(HPS5): c.2624delT (p.Leu875Cysfs) deletion Pathogenic rs281865105 GRCh37 Chromosome 11, 18309175: 18309175
4 HPS5 NM_181507.1(HPS5): c.1871T> G (p.Leu624Arg) single nucleotide variant Pathogenic rs281865102 GRCh37 Chromosome 11, 18313558: 18313558
5 HPS5 NM_181507.1(HPS5): c.1871T> G (p.Leu624Arg) single nucleotide variant Pathogenic rs281865102 GRCh38 Chromosome 11, 18292011: 18292011
6 HPS5 NM_181507.1(HPS5): c.2593C> T (p.Arg865Ter) single nucleotide variant Pathogenic rs281865104 GRCh37 Chromosome 11, 18309206: 18309206
7 HPS5 NM_181507.1(HPS5): c.2593C> T (p.Arg865Ter) single nucleotide variant Pathogenic rs281865104 GRCh38 Chromosome 11, 18287659: 18287659
8 HPS5 NM_181507.1(HPS5): c.2624delT (p.Leu875Cysfs) deletion Pathogenic rs281865105 GRCh38 Chromosome 11, 18287628: 18287628
9 HPS5 NM_181507.1(HPS5): c.2928_2929dupGA (p.Thr977Argfs) duplication Pathogenic rs397507169 GRCh37 Chromosome 11, 18306915: 18306916
10 HPS5 NM_181507.1(HPS5): c.2928_2929dupGA (p.Thr977Argfs) duplication Pathogenic rs397507169 GRCh38 Chromosome 11, 18285368: 18285369
11 HPS5 NM_181507.1(HPS5): c.879dupC (p.Lys294Glnfs) duplication Pathogenic rs281865101 GRCh37 Chromosome 11, 18326986: 18326986
12 HPS5 NM_181507.1(HPS5): c.879dupC (p.Lys294Glnfs) duplication Pathogenic rs281865101 GRCh38 Chromosome 11, 18305439: 18305439
13 HPS5 NM_181507.1(HPS5): c.3045G> A (p.Met1015Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs61755718 GRCh38 Chromosome 11, 18283808: 18283808
14 HPS5 NM_181507.1(HPS5): c.3045G> A (p.Met1015Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs61755718 GRCh37 Chromosome 11, 18305355: 18305355
15 HPS5 NM_181507.1(HPS5): c.2979_2982delTTTG (p.Cys993Trpfs) deletion Pathogenic rs886041723 GRCh37 Chromosome 11, 18305418: 18305421
16 HPS5 NM_181507.1(HPS5): c.2979_2982delTTTG (p.Cys993Trpfs) deletion Pathogenic rs886041723 GRCh38 Chromosome 11, 18283871: 18283874
17 HPS5 NM_181507.1(HPS5): c.3096_3098delCCT (p.Leu1033del) deletion Pathogenic rs753928208 GRCh38 Chromosome 11, 18282181: 18282183
18 HPS5 NM_181507.1(HPS5): c.3096_3098delCCT (p.Leu1033del) deletion Pathogenic rs753928208 GRCh37 Chromosome 11, 18303728: 18303730
19 HPS5 NM_181507.1(HPS5): c.3058+3A> G single nucleotide variant Pathogenic rs113304476 GRCh37 Chromosome 11, 18305339: 18305339
20 HPS5 NM_181507.1(HPS5): c.3058+3A> G single nucleotide variant Pathogenic rs113304476 GRCh38 Chromosome 11, 18283792: 18283792
21 HPS5 NM_181507.1(HPS5): c.2750_2751delAG (p.Glu917Valfs) deletion Pathogenic rs1131692151 GRCh38 Chromosome 11, 18286677: 18286678
22 HPS5 NM_181507.1(HPS5): c.2750_2751delAG (p.Glu917Valfs) deletion Pathogenic rs1131692151 GRCh37 Chromosome 11, 18308224: 18308225
23 HPS5 NM_181507.1(HPS5): c.2219T> C (p.Leu740Ser) single nucleotide variant Pathogenic rs1131692149 GRCh37 Chromosome 11, 18313210: 18313210
24 HPS5 NM_181507.1(HPS5): c.2219T> C (p.Leu740Ser) single nucleotide variant Pathogenic rs1131692149 GRCh38 Chromosome 11, 18291663: 18291663
25 HPS5 NM_181507.1(HPS5): c.1900delG (p.Glu634Serfs) deletion Pathogenic rs1131692146 GRCh38 Chromosome 11, 18291982: 18291982
26 HPS5 NM_181507.1(HPS5): c.1900delG (p.Glu634Serfs) deletion Pathogenic rs1131692146 GRCh37 Chromosome 11, 18313529: 18313529
27 HPS5 NM_181507.1(HPS5): c.1417C> T (p.Gln473Ter) single nucleotide variant Pathogenic rs1131692148 GRCh37 Chromosome 11, 18318438: 18318438
28 HPS5 NM_181507.1(HPS5): c.1417C> T (p.Gln473Ter) single nucleotide variant Pathogenic rs1131692148 GRCh38 Chromosome 11, 18296891: 18296891
29 HPS5 NM_181507.1(HPS5): c.818_822delCTCTC (p.Thr273Lysfs) deletion Pathogenic rs1131692147 GRCh37 Chromosome 11, 18327684: 18327688
30 HPS5 NM_181507.1(HPS5): c.818_822delCTCTC (p.Thr273Lysfs) deletion Pathogenic rs1131692147 GRCh38 Chromosome 11, 18306137: 18306141
31 HPS5 NM_181507.1(HPS5): c.719G> C (p.Arg240Pro) single nucleotide variant Pathogenic rs764296457 GRCh37 Chromosome 11, 18327787: 18327787
32 HPS5 NM_181507.1(HPS5): c.719G> C (p.Arg240Pro) single nucleotide variant Pathogenic rs764296457 GRCh38 Chromosome 11, 18306240: 18306240
33 HPS5 NM_181507.1(HPS5): c.219G> A (p.Arg73=) single nucleotide variant Pathogenic rs1131692150 GRCh38 Chromosome 11, 18311914: 18311914
34 HPS5 NM_181507.1(HPS5): c.219G> A (p.Arg73=) single nucleotide variant Pathogenic rs1131692150 GRCh37 Chromosome 11, 18333461: 18333461
35 HPS5 11p15.1 deletion deletion Pathogenic
36 HPS5 NM_181507.1(HPS5): c.1423delC (p.Leu475Serfs) deletion Likely pathogenic rs766602179 GRCh38 Chromosome 11, 18296885: 18296885
37 HPS5 NM_181507.1(HPS5): c.1423delC (p.Leu475Serfs) deletion Likely pathogenic rs766602179 GRCh37 Chromosome 11, 18318432: 18318432
38 HPS5 NM_181507.1(HPS5): c.285-10A> G single nucleotide variant Pathogenic rs200449378 GRCh38 Chromosome 11, 18310943: 18310943
39 HPS5 NM_181507.1(HPS5): c.285-10A> G single nucleotide variant Pathogenic rs200449378 GRCh37 Chromosome 11, 18332490: 18332490
40 HPS5 NM_181507.1(HPS5): c.107delA (p.Lys36Serfs) deletion Pathogenic GRCh38 Chromosome 11, 18317752: 18317752
41 HPS5 NM_181507.1(HPS5): c.107delA (p.Lys36Serfs) deletion Pathogenic GRCh37 Chromosome 11, 18339299: 18339299
42 HPS5 NM_181507.1(HPS5): c.240C> T (p.Val80=) single nucleotide variant Likely benign rs138423875 GRCh37 Chromosome 11, 18332978: 18332978
43 HPS5 NM_181507.1(HPS5): c.240C> T (p.Val80=) single nucleotide variant Likely benign rs138423875 GRCh38 Chromosome 11, 18311431: 18311431

Expression for Hermansky-Pudlak Syndrome 5

Search GEO for disease gene expression data for Hermansky-Pudlak Syndrome 5.

Pathways for Hermansky-Pudlak Syndrome 5

Pathways related to Hermansky-Pudlak Syndrome 5 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.78 LDHA LDHC
2 10.46 LDHA LDHC
3
Show member pathways
9.7 LDHA LDHC

GO Terms for Hermansky-Pudlak Syndrome 5

Cellular components related to Hermansky-Pudlak Syndrome 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 early endosome GO:0005769 9.13 BACE1 RAB38 VPS33A
2 BLOC-2 complex GO:0031084 8.62 HPS5 HPS6

Biological processes related to Hermansky-Pudlak Syndrome 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 pigmentation GO:0043473 9.37 HPS5 HPS6
2 pyruvate metabolic process GO:0006090 9.32 LDHA LDHC
3 lysosome localization GO:0032418 9.26 HPS6 VPS33A
4 carboxylic acid metabolic process GO:0019752 9.16 LDHA LDHC
5 protein localization to membrane GO:0072657 8.96 HPS6 RAB38
6 organelle organization GO:0006996 8.8 HPS5 HPS6 RAB38

Molecular functions related to Hermansky-Pudlak Syndrome 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor GO:0016616 9.16 LDHA LDHC
2 GTP-dependent protein binding GO:0030742 8.96 HPS6 RAB38
3 L-lactate dehydrogenase activity GO:0004459 8.62 LDHA LDHC

Sources for Hermansky-Pudlak Syndrome 5

3 CDC
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9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
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74 UMLS via Orphanet
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