MCID: HRM005
MIFTS: 46

Hermansky-Pudlak Syndrome 1

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

Aliases & Classifications for Hermansky-Pudlak Syndrome 1

MalaCards integrated aliases for Hermansky-Pudlak Syndrome 1:

Name: Hermansky-Pudlak Syndrome 1 57 12 75 29 13 6 15
Albinism with Hemorrhagic Diathesis and Pigmented Reticuloendothelial Cells 57 73
Delta Storage Pool Disease 57 75
Hps1 57 75
Albinism with Hemorrhagic Diathesis and Pigmented Reticuloendothelial 75
Platelet Storage Pool Deficiency 73

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
hermansky-pudlak syndrome 1:
Inheritance heterogeneous autosomal recessive inheritance


Classifications:



Summaries for Hermansky-Pudlak Syndrome 1

UniProtKB/Swiss-Prot : 75 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 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 renal insufficiency and gingival bleeding

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 : 57 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:

57
Head And Neck Eyes:
nystagmus
ocular albinism
lifelong reduced visual acuity, legal blindness to low vision
iris transillumination (variable)
macular translucency (variable)
more
Cardiovascular Heart:
cardiomyopathy

Head And Neck Mouth:
gingival bleeding

Skin Nails Hair Skin:
albinism
freckles in sun-exposed areas
pigmented nevi
creamy white skin
tanning possible

Respiratory Lung:
restrictive lung disease
interstitial pulmonary fibrosis

Laboratory Abnormalities:
hair bulb tyrosinase present

Abdomen Gastrointestinal:
abdominal pain
bloody diarrhea
granulomatous colitis
inflammatory bowel disease

Head And Neck Nose:
epistaxis

Hematology:
prolonged bleeding time
easy bruisability
bleeding diathesis
absent dense bodies in platelets
normal platelet counts
more
Genitourinary Kidneys:
renal failure

Skin Nails Hair Hair:
hair color white to brown


Clinical features from OMIM:

203300

Human phenotypes related to Hermansky-Pudlak Syndrome 1:

32 (show all 19)
# Description HPO Frequency HPO Source Accession
1 renal insufficiency 32 HP:0000083
2 gingival bleeding 32 HP:0000225
3 epistaxis 32 HP:0000421
4 nystagmus 32 HP:0000639
5 bruising susceptibility 32 HP:0000978
6 melanocytic nevus 32 HP:0000995
7 albinism 32 HP:0001022
8 ocular albinism 32 HP:0001107
9 severe visual impairment 32 HP:0001141
10 freckling 32 HP:0001480
11 abnormality of the hair 32 HP:0001595
12 cardiomyopathy 32 HP:0001638
13 abdominal pain 32 HP:0002027
14 inflammation of the large intestine 32 HP:0002037
15 restrictive ventilatory defect 32 HP:0002091
16 pulmonary fibrosis 32 HP:0002206
17 hematochezia 32 HP:0002573
18 prolonged bleeding time 32 HP:0003010
19 freckles in sun-exposed areas 32 HP:0007603

UMLS symptoms related to Hermansky-Pudlak Syndrome 1:


abdominal pain

MGI Mouse Phenotypes related to Hermansky-Pudlak Syndrome 1:

46 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.22 AP3B1 DTNBP1 LYST OCA2 PAX3 SFTPB
2 homeostasis/metabolism MP:0005376 10.21 SFTPB SLC24A5 SLC45A2 SOX10 TYR AP3B1
3 growth/size/body region MP:0005378 10.18 SLC45A2 SOX10 TYR AP3B1 HPS1 HPS4
4 integument MP:0010771 10.14 TYR AP3B1 DTNBP1 HPS1 HPS4 LYST
5 cellular MP:0005384 10.11 AP3B1 HPS1 HPS4 LYST OCA2 PAX3
6 hearing/vestibular/ear MP:0005377 10.11 AP3B1 DTNBP1 HPS1 HPS4 LYST OCA2
7 craniofacial MP:0005382 10.1 AP3B1 HPS1 HPS4 LYST OCA2 PAX3
8 pigmentation MP:0001186 10 HPS1 HPS4 LYST OCA2 PAX3 SLC24A5
9 limbs/digits/tail MP:0005371 9.91 OCA2 PAX3 SOX10 TYR AP3B1 HPS1
10 no phenotypic analysis MP:0003012 9.87 AP3B1 HPS1 LYST OCA2 PAX3 SOX10
11 renal/urinary system MP:0005367 9.76 AP3B1 DTNBP1 HPS1 HPS4 LYST OCA2
12 respiratory system MP:0005388 9.43 AP3B1 HPS1 LYST PAX3 SFTPB SOX10
13 vision/eye MP:0005391 9.32 AP3B1 DTNBP1 HPS1 HPS4 LYST OCA2

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 29 HPS1

Anatomical Context for Hermansky-Pudlak Syndrome 1

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

41
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 top 50) (show all 52)
# Gene Variation Type Significance SNP ID Assembly Location
1 HPS1 NM_000195.4(HPS1): c.1472_1487dup16 (p.His497Glnfs) duplication Pathogenic rs281865163 GRCh37 Chromosome 10, 100183555: 100183570
2 HPS1 NM_000195.4(HPS1): c.1472_1487dup16 (p.His497Glnfs) duplication Pathogenic rs281865163 GRCh38 Chromosome 10, 98423798: 98423813
3 HPS1 NM_000195.4(HPS1): c.972dupC (p.Met325Hisfs) duplication Pathogenic rs281865083 GRCh38 Chromosome 10, 98427230: 98427230
4 HPS1 NM_000195.4(HPS1): c.972dupC (p.Met325Hisfs) duplication Pathogenic rs281865083 GRCh37 Chromosome 10, 100186987: 100186987
5 HPS1 NM_000195.4(HPS1): c.1996G> T (p.Glu666Ter) single nucleotide variant Pathogenic rs121908385 GRCh37 Chromosome 10, 100177428: 100177428
6 HPS1 NM_000195.4(HPS1): c.1996G> T (p.Glu666Ter) single nucleotide variant Pathogenic rs121908385 GRCh38 Chromosome 10, 98417671: 98417671
7 HPS1 NM_000195.4(HPS1): c.972delC (p.Met325Trpfs) deletion Pathogenic rs281865082 GRCh38 Chromosome 10, 98427230: 98427230
8 HPS1 NM_000195.4(HPS1): c.972delC (p.Met325Trpfs) deletion Pathogenic rs281865082 GRCh37 Chromosome 10, 100186987: 100186987
9 HPS1 NM_000195.4(HPS1): c.397G> T (p.Glu133Ter) single nucleotide variant Pathogenic rs121908386 GRCh37 Chromosome 10, 100195030: 100195030
10 HPS1 NM_000195.4(HPS1): c.397G> T (p.Glu133Ter) single nucleotide variant Pathogenic rs121908386 GRCh38 Chromosome 10, 98435273: 98435273
11 HPS1 NM_000195.4(HPS1): c.962dupG (p.Thr322Hisfs) duplication Pathogenic rs606231156 GRCh38 Chromosome 10, 98427240: 98427240
12 HPS1 NM_000195.4(HPS1): c.962dupG (p.Thr322Hisfs) duplication Pathogenic rs606231156 GRCh37 Chromosome 10, 100186997: 100186997
13 HPS1 NM_000195.4(HPS1): c.398+5G> A single nucleotide variant Pathogenic rs281865077 GRCh37 Chromosome 10, 100195024: 100195024
14 HPS1 NM_000195.4(HPS1): c.398+5G> A single nucleotide variant Pathogenic rs281865077 GRCh38 Chromosome 10, 98435267: 98435267
15 HPS1 NM_000195.4(HPS1): c.391C> T (p.Arg131Ter) single nucleotide variant Pathogenic rs281865076 GRCh38 Chromosome 10, 98435279: 98435279
16 HPS1 NM_000195.4(HPS1): c.355delC (p.His119Thrfs) deletion Pathogenic rs281865075 GRCh38 Chromosome 10, 98435315: 98435315
17 HPS1 NM_000195.4(HPS1): c.391C> T (p.Arg131Ter) single nucleotide variant Pathogenic rs281865076 GRCh37 Chromosome 10, 100195036: 100195036
18 HPS1 NM_000195.4(HPS1): c.418delG (p.Ala140Argfs) deletion Pathogenic rs281865078 GRCh37 Chromosome 10, 100193829: 100193829
19 HPS1 NM_000195.4(HPS1): c.418delG (p.Ala140Argfs) deletion Pathogenic rs281865078 GRCh38 Chromosome 10, 98434072: 98434072
20 HPS1 NM_000195.4(HPS1): c.532dupC (p.Gln178Profs) duplication Pathogenic rs281865079 GRCh37 Chromosome 10, 100191024: 100191024
21 HPS1 NM_000195.4(HPS1): c.532dupC (p.Gln178Profs) duplication Pathogenic rs281865079 GRCh38 Chromosome 10, 98431267: 98431267
22 HPS1 NM_000195.4(HPS1): c.716T> C (p.Leu239Pro) single nucleotide variant Pathogenic rs281865080 GRCh37 Chromosome 10, 100190380: 100190380
23 HPS1 NM_000195.4(HPS1): c.716T> C (p.Leu239Pro) single nucleotide variant Pathogenic rs281865080 GRCh38 Chromosome 10, 98430623: 98430623
24 HPS1 NM_000195.4(HPS1): c.1189delC (p.Gln397Serfs) deletion Likely pathogenic rs281865084 GRCh37 Chromosome 10, 100185444: 100185444
25 HPS1 NM_000195.4(HPS1): c.1189delC (p.Gln397Serfs) deletion Likely pathogenic rs281865084 GRCh38 Chromosome 10, 98425687: 98425687
26 HPS1 NM_000195.4(HPS1): c.1323dupA (p.Gln442Thrfs) duplication Pathogenic rs281865085 GRCh37 Chromosome 10, 100185310: 100185310
27 HPS1 NM_000195.4(HPS1): c.1323dupA (p.Gln442Thrfs) duplication Pathogenic rs281865085 GRCh38 Chromosome 10, 98425553: 98425553
28 HPS1 NM_000195.4(HPS1): c.1375delA (p.Ser459Valfs) deletion Pathogenic rs281865086 GRCh37 Chromosome 10, 100184092: 100184092
29 HPS1 NM_000195.4(HPS1): c.1375delA (p.Ser459Valfs) deletion Pathogenic rs281865086 GRCh38 Chromosome 10, 98424335: 98424335
30 HPS1 NM_000195.4(HPS1): c.166_168delATC (p.Ile56del) deletion Pathogenic rs281865073 GRCh37 Chromosome 10, 100195479: 100195481
31 HPS1 NM_000195.4(HPS1): c.166_168delATC (p.Ile56del) deletion Pathogenic rs281865073 GRCh38 Chromosome 10, 98435722: 98435724
32 HPS1 NM_000195.4(HPS1): c.1691delA (p.Lys564Argfs) deletion Pathogenic rs281865087 GRCh37 Chromosome 10, 100182178: 100182178
33 HPS1 NM_000195.4(HPS1): c.1691delA (p.Lys564Argfs) deletion Pathogenic rs281865087 GRCh38 Chromosome 10, 98422421: 98422421
34 HPS1 NM_000195.4(HPS1): c.1744-2A> C single nucleotide variant Pathogenic rs281865088 GRCh37 Chromosome 10, 100179917: 100179917
35 HPS1 NM_000195.4(HPS1): c.1744-2A> C single nucleotide variant Pathogenic rs281865088 GRCh38 Chromosome 10, 98420160: 98420160
36 HPS1 NM_000195.4(HPS1): c.1749G> A (p.Trp583Ter) single nucleotide variant Pathogenic rs281865089 GRCh37 Chromosome 10, 100179910: 100179910
37 HPS1 NM_000195.4(HPS1): c.1749G> A (p.Trp583Ter) single nucleotide variant Pathogenic rs281865089 GRCh38 Chromosome 10, 98420153: 98420153
38 HPS1 NM_000195.4(HPS1): c.2003T> C (p.Leu668Pro) single nucleotide variant Pathogenic rs281865090 GRCh37 Chromosome 10, 100177421: 100177421
39 HPS1 NM_000195.4(HPS1): c.2003T> C (p.Leu668Pro) single nucleotide variant Pathogenic rs281865090 GRCh38 Chromosome 10, 98417664: 98417664
40 HPS1 NM_000195.4(HPS1): c.288delT (p.Asp97Thrfs) deletion Pathogenic rs281865074 GRCh37 Chromosome 10, 100195139: 100195139
41 HPS1 NM_000195.4(HPS1): c.288delT (p.Asp97Thrfs) deletion Pathogenic rs281865074 GRCh38 Chromosome 10, 98435382: 98435382
42 HPS1 NM_000195.4(HPS1): c.355delC (p.His119Thrfs) deletion Pathogenic rs281865075 GRCh37 Chromosome 10, 100195072: 100195072
43 HPS1 NM_000195.4(HPS1): c.932delG (p.Ser311Thrfs) deletion Pathogenic rs281865091 GRCh37 Chromosome 10, 100189335: 100189335
44 HPS1 NM_000195.4(HPS1): c.932delG (p.Ser311Thrfs) deletion Pathogenic rs281865091 GRCh38 Chromosome 10, 98429578: 98429578
45 HPS1 NM_000195.4(HPS1): c.962delG (p.Gly321Alafs) deletion Pathogenic rs281865081 GRCh37 Chromosome 10, 100186997: 100186997
46 HPS1 NM_000195.4(HPS1): c.962delG (p.Gly321Alafs) deletion Pathogenic rs281865081 GRCh38 Chromosome 10, 98427240: 98427240
47 HPS1 NM_000195.4(HPS1): c.974_975insC (p.Met325Ilefs) insertion Pathogenic rs281865092 GRCh37 Chromosome 10, 100186984: 100186985
48 HPS1 NM_000195.4(HPS1): c.974_975insC (p.Met325Ilefs) insertion Pathogenic rs281865092 GRCh38 Chromosome 10, 98427227: 98427228
49 DTNBP1 NM_032122.4(DTNBP1): c.177G> A (p.Trp59Ter) single nucleotide variant Pathogenic rs727502866 GRCh38 Chromosome 6, 15637789: 15637789
50 DTNBP1 NM_032122.4(DTNBP1): c.177G> A (p.Trp59Ter) single nucleotide variant Pathogenic rs727502866 GRCh37 Chromosome 6, 15638020: 15638020

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 lysosome GO:0005764 9.56 HPS1 HPS4 SFTPB TYR
2 melanosome GO:0042470 9.33 HPS4 SLC24A5 TYR
3 axon cytoplasm GO:1904115 9.32 AP3B1 DTNBP1
4 BLOC-3 complex GO:0031085 8.96 HPS1 HPS4
5 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 anterograde axonal transport GO:0008089 9.49 AP3B1 DTNBP1
5 melanocyte differentiation GO:0030318 9.48 HPS4 OCA2
6 anterograde synaptic vesicle transport GO:0048490 9.46 AP3B1 DTNBP1
7 organelle organization GO:0006996 9.43 DTNBP1 HPS4
8 pigmentation GO:0043473 9.43 LYST OCA2 TYR
9 developmental pigmentation GO:0048066 9.4 OCA2 SLC45A2
10 melanosome assembly GO:1903232 9.37 HPS1 HPS4
11 lysosome organization GO:0007040 9.33 HPS1 HPS4 LYST
12 eye pigment biosynthetic process GO:0006726 9.32 OCA2 TYR
13 melanosome organization GO:0032438 9.13 AP3B1 DTNBP1 LYST
14 melanin biosynthetic process GO:0042438 8.8 OCA2 SLC45A2 TYR

Sources for Hermansky-Pudlak Syndrome 1

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