MCID: HRM005
MIFTS: 47

Hermansky-Pudlak Syndrome 1

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

Aliases & Classifications for Hermansky-Pudlak Syndrome 1

MalaCards integrated aliases for Hermansky-Pudlak Syndrome 1:

Name: Hermansky-Pudlak Syndrome 1 53 12 71 28 13 14
Albinism with Hemorrhagic Diathesis and Pigmented Reticuloendothelial Cells 53 69
Delta Storage Pool Disease 53 71
Hps1 53 71
Albinism with Hemorrhagic Diathesis and Pigmented Reticuloendothelial 71
Platelet Storage Pool Deficiency 69

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
genetic heterogeneity
gene frequency in northwest puerto rico 1 in 18


HPO:

31
hermansky-pudlak syndrome 1:
Inheritance heterogeneous autosomal recessive inheritance


Classifications:



Summaries for Hermansky-Pudlak Syndrome 1

UniProtKB/Swiss-Prot : 71 Hermansky-Pudlak syndrome 1: 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 1, also known as albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells, is related to chediak-higashi syndrome and hermansky-pudlak syndrome, and has symptoms including abdominal pain, nystagmus and renal insufficiency. An important gene associated with Hermansky-Pudlak Syndrome 1 is HPS1 (HPS1, Biogenesis Of Lysosomal Organelles Complex 3 Subunit 1), and among its related pathways/superpathways are Melanocyte Development and Pigmentation and Melanin biosynthesis. Affiliated tissues include lung and skin, and related phenotypes are behavior/neurological and homeostasis/metabolism

Disease Ontology : 12 A Hermansky-Pudlak syndrome that has material basis in homozygous or compound heterozygous mutation in the HPS1 gene on chromosome 10q24.

OMIM : 53 Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder in which oculocutaneous albinism, bleeding, and lysosomal ceroid storage result from defects of multiple cytoplasmic organelles: melanosomes, platelet-dense granules, and lysosomes (Oh et al., 1998). (203300)

Related Diseases for Hermansky-Pudlak Syndrome 1

Graphical network of the top 20 diseases related to Hermansky-Pudlak Syndrome 1:



Diseases related to Hermansky-Pudlak Syndrome 1

Symptoms & Phenotypes for Hermansky-Pudlak Syndrome 1

Symptoms via clinical synopsis from OMIM:

53
Abdomen Gastroin testinal:
abdominal pain
bloody diarrhea
granulomatous colitis
inflammatory bowel disease

Cardiovascular Heart:
cardiomyopathy

Head And Neck Mouth:
gingival bleeding

Respiratory Lung:
restrictive lung disease
interstitial pulmonary fibrosis

Genitourinary Kidneys:
renal failure

Laboratory Abnormalities:
hair bulb tyrosinase present

Head And Neck Eyes:
nystagmus
ocular albinism
lifelong reduced visual acuity, legal blindness to low vision
iris transillumination (variable)
macular translucency (variable)
more
Head And Neck Nose:
epistaxis

Hematology:
prolonged bleeding time
easy bruisability
bleeding diathesis
absent dense bodies in platelets
normal platelet counts
more
Skin Nails Hair Skin:
albinism
freckles in sun-exposed areas
pigmented nevi
creamy white skin
tanning possible

Skin Nails Hair Hair:
hair color white to brown


Clinical features from OMIM:

203300

Human phenotypes related to Hermansky-Pudlak Syndrome 1:

31 (show all 19)
# Description HPO Frequency HPO Source Accession
1 abdominal pain 31 HP:0002027
2 nystagmus 31 HP:0000639
3 renal insufficiency 31 HP:0000083
4 pulmonary fibrosis 31 HP:0002206
5 melanocytic nevus 31 HP:0000995
6 inflammation of the large intestine 31 HP:0002037
7 cardiomyopathy 31 HP:0001638
8 epistaxis 31 HP:0000421
9 bruising susceptibility 31 HP:0000978
10 gingival bleeding 31 HP:0000225
11 hematochezia 31 HP:0002573
12 prolonged bleeding time 31 HP:0003010
13 abnormality of the hair 31 HP:0001595
14 ocular albinism 31 HP:0001107
15 freckling 31 HP:0001480
16 albinism 31 HP:0001022
17 severe visual impairment 31 HP:0001141
18 freckles in sun-exposed areas 31 HP:0007603
19 restrictive ventilatory defect 31 HP:0002091

UMLS symptoms related to Hermansky-Pudlak Syndrome 1:


abdominal pain

MGI Mouse Phenotypes related to Hermansky-Pudlak Syndrome 1:

43 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.24 AP3B1 DTNBP1 LYST OCA2 PAX3 SFTPB
2 homeostasis/metabolism MP:0005376 10.21 AP3B1 DTNBP1 HPS1 HPS4 LYST OCA2
3 growth/size/body region MP:0005378 10.19 TYR AP3B1 HPS1 HPS4 LYST OCA2
4 integument MP:0010771 10.14 AP3B1 DTNBP1 HPS1 HPS4 LYST OCA2
5 cellular MP:0005384 10.13 AP3B1 HPS1 HPS4 LYST OCA2 PAX3
6 hearing/vestibular/ear MP:0005377 10.13 AP3B1 DTNBP1 HPS1 HPS4 LYST OCA2
7 craniofacial MP:0005382 10.11 AP3B1 HPS1 HPS4 LYST OCA2 PAX3
8 hematopoietic system MP:0005397 10 AP3B1 DTNBP1 HPS1 HPS4 LYST OCA2
9 pigmentation MP:0001186 10 AP3B1 DTNBP1 HPS1 HPS4 LYST OCA2
10 limbs/digits/tail MP:0005371 9.91 AP3B1 HPS1 LYST OCA2 PAX3 SOX10
11 no phenotypic analysis MP:0003012 9.8 AP3B1 HPS1 LYST OCA2 PAX3 TYR
12 renal/urinary system MP:0005367 9.76 PAX3 TYR AP3B1 DTNBP1 HPS1 HPS4
13 respiratory system MP:0005388 9.43 AP3B1 HPS1 LYST PAX3 SFTPB SOX10
14 vision/eye MP:0005391 9.32 SLC45A2 TYR AP3B1 DTNBP1 HPS1 HPS4

Drugs & Therapeutics for Hermansky-Pudlak Syndrome 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Longitudinal Study of Hermansky-Pudlak Syndrome Pulmonary Fibrosis Recruiting NCT02368340

Search NIH Clinical Center for Hermansky-Pudlak Syndrome 1

Genetic Tests for Hermansky-Pudlak Syndrome 1

Genetic tests related to Hermansky-Pudlak Syndrome 1:

# Genetic test Affiliating Genes
1 Hermansky-Pudlak Syndrome 1 28 HPS1

Anatomical Context for Hermansky-Pudlak Syndrome 1

MalaCards organs/tissues related to Hermansky-Pudlak Syndrome 1:

38
Lung, Skin

Publications for Hermansky-Pudlak Syndrome 1

Articles related to Hermansky-Pudlak Syndrome 1:

# Title Authors Year
1
Case of Hermansky-Pudlak syndrome 1 in a Japanese infant. ( 25988314 )
2015
2
Case of Hermansky-Pudlak syndrome 1 patient with milder symptoms in Japanese. ( 24479888 )
2014
3
Lung pathology of pale ear mouse (model of Hermansky-Pudlak syndrome 1) and beige mouse (model of Chediak-Higashi syndrome): severity of giant lamellar body degeneration of type II pneumocytes correlates with interstitial inflammation. ( 15743322 )
2005
4
The Hermansky-Pudlak syndrome 1 (HPS1) and HPS4 proteins are components of two complexes, BLOC-3 and BLOC-4, involved in the biogenesis of lysosome-related organelles. ( 12663659 )
2003
5
The Hermansky-Pudlak syndrome 1 (HPS1) and HPS2 genes independently contribute to the production and function of platelet dense granules, melanosomes, and lysosomes. ( 11861280 )
2002

Variations for Hermansky-Pudlak Syndrome 1

ClinVar genetic disease variations for Hermansky-Pudlak Syndrome 1:

6 (show all 26)
# Gene Variation Type Significance SNP ID Assembly Location
1 HPS1 NM_000195.4(HPS1): c.1189delC (p.Gln397Serfs) deletion Pathogenic/Likely pathogenic rs281865084 GRCh37 Chromosome 10, 100185444: 100185444
2 HPS1 NM_000195.4(HPS1): c.1323dupA (p.Gln442Thrfs) duplication Pathogenic rs281865085 GRCh37 Chromosome 10, 100185310: 100185310
3 HPS1 NM_000195.4(HPS1): c.1375delA (p.Ser459Valfs) deletion Pathogenic rs281865086 GRCh37 Chromosome 10, 100184092: 100184092
4 HPS1 NM_000195.4(HPS1): c.166_168delATC (p.Ile56del) deletion Pathogenic rs281865073 GRCh37 Chromosome 10, 100195479: 100195481
5 HPS1 NM_000195.4(HPS1): c.1691delA (p.Lys564Argfs) deletion Pathogenic rs281865087 GRCh37 Chromosome 10, 100182178: 100182178
6 HPS1 NM_000195.4(HPS1): c.1744-2A> C single nucleotide variant Pathogenic rs281865088 GRCh37 Chromosome 10, 100179917: 100179917
7 HPS1 NM_000195.4(HPS1): c.1749G> A (p.Trp583Ter) single nucleotide variant Pathogenic rs281865089 GRCh37 Chromosome 10, 100179910: 100179910
8 HPS1 NM_000195.4(HPS1): c.2003T> C (p.Leu668Pro) single nucleotide variant Pathogenic rs281865090 GRCh37 Chromosome 10, 100177421: 100177421
9 HPS1 NM_000195.4(HPS1): c.288delT (p.Asp97Thrfs) deletion Pathogenic rs281865074 GRCh37 Chromosome 10, 100195139: 100195139
10 HPS1 NM_000195.4(HPS1): c.355delC (p.His119Thrfs) deletion Pathogenic rs281865075 GRCh37 Chromosome 10, 100195072: 100195072
11 HPS1 NM_000195.4(HPS1): c.391C> T (p.Arg131Ter) single nucleotide variant Pathogenic rs281865076 GRCh37 Chromosome 10, 100195036: 100195036
12 HPS1 NM_000195.4(HPS1): c.418delG (p.Ala140Argfs) deletion Pathogenic rs281865078 GRCh37 Chromosome 10, 100193829: 100193829
13 HPS1 NM_000195.4(HPS1): c.532dupC (p.Gln178Profs) duplication Pathogenic rs281865079 GRCh37 Chromosome 10, 100191024: 100191024
14 HPS1 NM_000195.4(HPS1): c.716T> C (p.Leu239Pro) single nucleotide variant Pathogenic rs281865080 GRCh37 Chromosome 10, 100190380: 100190380
15 HPS1 NM_000195.4(HPS1): c.932delG (p.Ser311Thrfs) deletion Pathogenic rs281865091 GRCh37 Chromosome 10, 100189335: 100189335
16 HPS1 NM_000195.4(HPS1): c.962delG (p.Gly321Alafs) deletion Pathogenic rs281865081 GRCh37 Chromosome 10, 100186997: 100186997
17 HPS1 NM_000195.4(HPS1): c.974_975insC (p.Met325Ilefs) insertion Pathogenic rs281865092 GRCh37 Chromosome 10, 100186984: 100186985
18 DTNBP1 NM_032122.4(DTNBP1): c.177G> A (p.Trp59Ter) single nucleotide variant Pathogenic rs727502866 GRCh38 Chromosome 6, 15637789: 15637789
19 HPS1 NM_000195.4(HPS1): c.1472_1487dup16 (p.His497Glnfs) duplication Pathogenic rs281865163 GRCh37 Chromosome 10, 100183555: 100183570
20 HPS1 NM_000195.4(HPS1): c.972dupC (p.Met325Hisfs) duplication Pathogenic rs281865083 GRCh38 Chromosome 10, 98427230: 98427230
21 HPS1 NM_000195.4(HPS1): c.1996G> T (p.Glu666Ter) single nucleotide variant Pathogenic rs121908385 GRCh37 Chromosome 10, 100177428: 100177428
22 HPS1 NM_000195.4(HPS1): c.972delC (p.Met325Trpfs) deletion Pathogenic rs281865082 GRCh38 Chromosome 10, 98427230: 98427230
23 HPS1 NM_000195.4(HPS1): c.397G> T (p.Glu133Ter) single nucleotide variant Pathogenic rs121908386 GRCh37 Chromosome 10, 100195030: 100195030
24 HPS1 NM_000195.4(HPS1): c.962dupG (p.Thr322Hisfs) duplication Pathogenic rs606231156 GRCh38 Chromosome 10, 98427240: 98427240
25 HPS1 NM_000195.4(HPS1): c.398+5G> A single nucleotide variant Pathogenic rs281865077 GRCh37 Chromosome 10, 100195024: 100195024
26 HPS1 NM_000195.4(HPS1): c.233_242delACTTCCTGTA (p.Asn78Metfs) deletion Pathogenic rs773323079 GRCh38 Chromosome 10, 98435648: 98435657

Expression for Hermansky-Pudlak Syndrome 1

Search GEO for disease gene expression data for Hermansky-Pudlak Syndrome 1.

Pathways for Hermansky-Pudlak Syndrome 1

Pathways related to Hermansky-Pudlak Syndrome 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.57 PAX3 SOX10
2 9.5 OCA2 SLC45A2 TYR

GO Terms for Hermansky-Pudlak Syndrome 1

Cellular components related to Hermansky-Pudlak Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasmic vesicle GO:0031410 9.67 AP3B1 DTNBP1 HPS1 HPS4
2 lysosome GO:0005764 9.56 HPS1 HPS4 SFTPB TYR
3 melanosome GO:0042470 9.33 HPS4 SLC24A5 TYR
4 axon cytoplasm GO:1904115 9.32 AP3B1 DTNBP1
5 BLOC-3 complex GO:0031085 8.96 HPS1 HPS4
6 melanosome membrane GO:0033162 8.92 DTNBP1 OCA2 SLC45A2 TYR

Biological processes related to Hermansky-Pudlak Syndrome 1 according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.84 DTNBP1 HPS1 SLC24A5 SLC45A2
2 visual perception GO:0007601 9.7 HPS1 SLC45A2 TYR
3 blood coagulation GO:0007596 9.69 AP3B1 DTNBP1 HPS4
4 pigmentation GO:0043473 9.5 LYST OCA2 TYR
5 anterograde axonal transport GO:0008089 9.49 AP3B1 DTNBP1
6 anterograde synaptic vesicle transport GO:0048490 9.48 AP3B1 DTNBP1
7 organelle organization GO:0006996 9.46 DTNBP1 HPS4
8 developmental pigmentation GO:0048066 9.43 OCA2 SLC45A2
9 lysosome organization GO:0007040 9.43 HPS1 HPS4 LYST
10 melanosome assembly GO:1903232 9.4 HPS1 HPS4
11 eye pigment biosynthetic process GO:0006726 9.37 OCA2 TYR
12 melanosome organization GO:0032438 9.33 AP3B1 DTNBP1 LYST
13 melanocyte differentiation GO:0030318 9.13 HPS4 OCA2 SOX10
14 melanin biosynthetic process GO:0042438 8.8 OCA2 SLC45A2 TYR

Sources for Hermansky-Pudlak Syndrome 1

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
Content
Loading form....