MCID: HRM018
MIFTS: 27

Hermansky-Pudlak Syndrome with Pulmonary Fibrosis

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

Aliases & Classifications for Hermansky-Pudlak Syndrome with Pulmonary Fibrosis

MalaCards integrated aliases for Hermansky-Pudlak Syndrome with Pulmonary Fibrosis:

Name: Hermansky-Pudlak Syndrome with Pulmonary Fibrosis 58
Hps with Pulmonary Fibrosis 58

Characteristics:

Orphanet epidemiological data:

58
hermansky-pudlak syndrome with pulmonary fibrosis
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare eye diseases
Rare respiratory diseases
Rare skin diseases
Inborn errors of metabolism
Rare haematological diseases


External Ids:

ICD10 via Orphanet 33 E70.3
Orphanet 58 ORPHA231500

Summaries for Hermansky-Pudlak Syndrome with Pulmonary Fibrosis

MalaCards based summary : Hermansky-Pudlak Syndrome with Pulmonary Fibrosis, also known as hps with pulmonary fibrosis, is related to hermansky-pudlak syndrome and pulmonary fibrosis. An important gene associated with Hermansky-Pudlak Syndrome with Pulmonary Fibrosis is HPS1 (HPS1 Biogenesis Of Lysosomal Organelles Complex 3 Subunit 1), and among its related pathways/superpathways are Vesicle-mediated transport and RAB GEFs exchange GTP for GDP on RABs. Affiliated tissues include eye, and related phenotypes are integument and pigmentation

Related Diseases for Hermansky-Pudlak Syndrome with Pulmonary Fibrosis

Diseases related to Hermansky-Pudlak Syndrome with Pulmonary Fibrosis via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hermansky-pudlak syndrome 29.7 HPS4 HPS1 DTNBP1
2 pulmonary fibrosis 29.7 HPS4 HPS1 DTNBP1
3 hermansky-pudlak syndrome 1 29.4 HPS4 HPS1 DTNBP1
4 albinism 9.5 HPS4 HPS1
5 storage pool platelet disease 9.5 HPS4 DTNBP1
6 oculocutaneous albinism 9.3 HPS4 HPS1 DTNBP1

Graphical network of the top 20 diseases related to Hermansky-Pudlak Syndrome with Pulmonary Fibrosis:



Diseases related to Hermansky-Pudlak Syndrome with Pulmonary Fibrosis

Symptoms & Phenotypes for Hermansky-Pudlak Syndrome with Pulmonary Fibrosis

MGI Mouse Phenotypes related to Hermansky-Pudlak Syndrome with Pulmonary Fibrosis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 9.43 DTNBP1 HPS1 HPS4
2 pigmentation MP:0001186 9.33 DTNBP1 HPS1 HPS4
3 renal/urinary system MP:0005367 9.13 DTNBP1 HPS1 HPS4
4 vision/eye MP:0005391 8.8 DTNBP1 HPS1 HPS4

Drugs & Therapeutics for Hermansky-Pudlak Syndrome with Pulmonary Fibrosis

Search Clinical Trials , NIH Clinical Center for Hermansky-Pudlak Syndrome with Pulmonary Fibrosis

Genetic Tests for Hermansky-Pudlak Syndrome with Pulmonary Fibrosis

Anatomical Context for Hermansky-Pudlak Syndrome with Pulmonary Fibrosis

MalaCards organs/tissues related to Hermansky-Pudlak Syndrome with Pulmonary Fibrosis:

40
Eye

Publications for Hermansky-Pudlak Syndrome with Pulmonary Fibrosis

Articles related to Hermansky-Pudlak Syndrome with Pulmonary Fibrosis:

(show all 16)
# Title Authors PMID Year
1
Whole-genome sequencing of patients with rare diseases in a national health system. 6
32581362 2020
2
Super-resolution microscopy as a potential approach to diagnosis of platelet granule disorders. 6
26806224 2016
3
Compound heterozygous mutations in 2 siblings with Hermansky-Pudlak syndrome type 1 (HPS1). 6
20514622 2010
4
Platelet alpha granules in BLOC-2 and BLOC-3 subtypes of Hermansky-Pudlak syndrome. 6
17365864 2007
5
Detection of hemizygosity in Hermansky-Pudlak syndrome by quantitative real-time PCR. 6
15952982 2005
6
Hermansky-Pudlak syndrome type 4 in a patient from Sri Lanka with pulmonary fibrosis. 6
15108212 2004
7
Hermansky-Pudlak syndrome type 4 (HPS-4): clinical and molecular characteristics. 6
12664304 2003
8
Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene. 6
11836498 2002
9
Heterozygous HPS1 mutations in a case of Hermansky-Pudlak syndrome with giant melanosomes. 6
10971344 2000
10
Three new mutations in a gene causing Hermansky-Pudlak syndrome: clinical correlations. 6
9705234 1998
11
Genetic defects and clinical characteristics of patients with a form of oculocutaneous albinism (Hermansky-Pudlak syndrome). 6
9562579 1998
12
Mutation analysis of patients with Hermansky-Pudlak syndrome: a frameshift hot spot in the HPS gene and apparent locus heterogeneity. 6
9497254 1998
13
Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles. 6
8896559 1996
14
Hermansky-Pudlak syndrome in a Swiss population. 6
8274781 1993
15
Novel aberrations of HPS1 mRNA detected in a case of Hermansky-Pudlak syndrome with pulmonary fibrosis. 61
15127980 2004
16
[Hermansky-Pudlak syndrome with pulmonary fibrosis in two brothers]. 61
1603776 1992

Variations for Hermansky-Pudlak Syndrome with Pulmonary Fibrosis

ClinVar genetic disease variations for Hermansky-Pudlak Syndrome with Pulmonary Fibrosis:

6 (show top 50) (show all 264)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 HPS4 NM_022081.6(HPS4):c.1891C>T (p.Gln631Ter) SNV Pathogenic 4125 rs119471021 GRCh37: 22:26853889-26853889
GRCh38: 22:26457923-26457923
2 HPS4 NM_022081.6(HPS4):c.2089_2093dup (p.Lys699fs) Microsatellite Pathogenic 4126 rs281865100 GRCh37: 22:26849232-26849233
GRCh38: 22:26453266-26453267
3 HPS4 NM_022081.6(HPS4):c.57del (p.Leu20fs) Deletion Pathogenic 4127 rs281865097 GRCh37: 22:26875306-26875306
GRCh38: 22:26479340-26479340
4 HPS4 NM_022081.6(HPS4):c.541C>T (p.Gln181Ter) SNV Pathogenic 4128 rs119471022 GRCh37: 22:26866740-26866740
GRCh38: 22:26470774-26470774
5 HPS4 NM_022081.6(HPS4):c.949_972dup (p.Ala317_Glu324dup) Duplication Pathogenic 4129 rs281865164 GRCh37: 22:26860623-26860624
GRCh38: 22:26464657-26464658
6 HPS4 NM_022081.6(HPS4):c.649C>T (p.Arg217Ter) SNV Pathogenic 4130 rs119471023 GRCh37: 22:26864537-26864537
GRCh38: 22:26468571-26468571
7 HPS4 NM_022081.6(HPS4):c.412G>T (p.Glu138Ter) SNV Pathogenic 4131 rs119471024 GRCh37: 22:26868357-26868357
GRCh38: 22:26472391-26472391
8 HPS4 NM_022081.6(HPS4):c.664G>T (p.Glu222Ter) SNV Pathogenic 4132 rs119471025 GRCh37: 22:26864522-26864522
GRCh38: 22:26468556-26468556
9 HPS4 HPS4, 1-BP DEL, C, CODON 685 Deletion Pathogenic 4133 GRCh37:
GRCh38:
10 HPS1 NM_000195.5(HPS1):c.1996G>T (p.Glu666Ter) SNV Pathogenic 5279 rs121908385 GRCh37: 10:100177428-100177428
GRCh38: 10:98417671-98417671
11 HPS1 NM_000195.5(HPS1):c.972del (p.Met325fs) Deletion Pathogenic 5280 rs281865082 GRCh37: 10:100186987-100186987
GRCh38: 10:98427230-98427230
12 HPS1 NM_000195.5(HPS1):c.397G>T (p.Glu133Ter) SNV Pathogenic 5281 rs121908386 GRCh37: 10:100195030-100195030
GRCh38: 10:98435273-98435273
13 HPS1 NM_000195.5(HPS1):c.962dup (p.Thr322fs) Duplication Pathogenic 5282 rs281865081 GRCh37: 10:100186996-100186997
GRCh38: 10:98427239-98427240
14 HPS1 NM_000195.5(HPS1):c.398+5G>A SNV Pathogenic 5283 rs281865077 GRCh37: 10:100195024-100195024
GRCh38: 10:98435267-98435267
15 HPS1 NM_000195.5(HPS1):c.163_165ATC[1] (p.Ile56del) Microsatellite Pathogenic 21095 rs281865073 GRCh37: 10:100195479-100195481
GRCh38: 10:98435722-98435724
16 HPS1 NM_000195.5(HPS1):c.1691del (p.Lys564fs) Deletion Pathogenic 21096 rs281865087 GRCh37: 10:100182178-100182178
GRCh38: 10:98422421-98422421
17 HPS1 NM_000195.5(HPS1):c.1744-2A>C SNV Pathogenic 21097 rs281865088 GRCh37: 10:100179917-100179917
GRCh38: 10:98420160-98420160
18 HPS1 NM_000195.5(HPS1):c.1749G>A (p.Trp583Ter) SNV Pathogenic 21098 rs281865089 GRCh37: 10:100179910-100179910
GRCh38: 10:98420153-98420153
19 HPS1 NM_000195.5(HPS1):c.2003T>C (p.Leu668Pro) SNV Pathogenic 21101 rs281865090 GRCh37: 10:100177421-100177421
GRCh38: 10:98417664-98417664
20 HPS1 NM_000195.5(HPS1):c.288del (p.Asp97fs) Deletion Pathogenic 21102 rs281865074 GRCh37: 10:100195139-100195139
GRCh38: 10:98435382-98435382
21 HPS1 NM_000195.5(HPS1):c.355del (p.His119fs) Deletion Pathogenic 21103 rs281865075 GRCh37: 10:100195072-100195072
GRCh38: 10:98435315-98435315
22 HPS1 NM_000195.5(HPS1):c.418del (p.Ala140fs) Deletion Pathogenic 21105 rs281865078 GRCh37: 10:100193829-100193829
GRCh38: 10:98434072-98434072
23 HPS1 NM_000195.5(HPS1):c.532dup (p.Gln178fs) Duplication Pathogenic 21106 rs281865079 GRCh37: 10:100191023-100191024
GRCh38: 10:98431266-98431267
24 HPS1 NM_000195.5(HPS1):c.716T>C (p.Leu239Pro) SNV Pathogenic 21107 rs281865080 GRCh37: 10:100190380-100190380
GRCh38: 10:98430623-98430623
25 HPS1 NM_000195.5(HPS1):c.932del (p.Ser311fs) Deletion Pathogenic 21109 rs281865091 GRCh37: 10:100189335-100189335
GRCh38: 10:98429578-98429578
26 HPS1 NM_000195.5(HPS1):c.962del (p.Gly321fs) Deletion Pathogenic 21110 rs281865081 GRCh37: 10:100186997-100186997
GRCh38: 10:98427240-98427240
27 HPS1 NM_000195.5(HPS1):c.974_975insC (p.Met325fs) Insertion Pathogenic 21113 rs281865092 GRCh37: 10:100186984-100186985
GRCh38: 10:98427227-98427228
28 HPS4 NM_022081.6(HPS4):c.1866del (p.Thr623fs) Deletion Pathogenic 21676 rs281865099 GRCh37: 22:26853914-26853914
GRCh38: 22:26457948-26457948
29 HPS4 NM_022081.6(HPS4):c.461A>G (p.His154Arg) SNV Pathogenic 21678 rs281865098 GRCh37: 22:26868308-26868308
GRCh38: 22:26472342-26472342
30 HPS4 NM_022081.6(HPS4):c.57dup (p.Leu20fs) Duplication Pathogenic 21679 rs281865097 GRCh37: 22:26875305-26875306
GRCh38: 22:26479339-26479340
31 HPS1 NM_000195.5(HPS1):c.1323dup (p.Gln442fs) Duplication Pathogenic 21092 rs281865085 GRCh37: 10:100185309-100185310
GRCh38: 10:98425552-98425553
32 HPS1 NM_000195.5(HPS1):c.1375del (p.Ser459fs) Deletion Pathogenic 21093 rs281865086 GRCh37: 10:100184092-100184092
GRCh38: 10:98424335-98424335
33 HPS1 NM_000195.5(HPS1):c.233_242del (p.Asn78fs) Deletion Pathogenic 435451 rs773323079 GRCh37: 10:100195405-100195414
GRCh38: 10:98435648-98435657
34 HPS1 NM_000195.5(HPS1):c.1657C>T (p.Gln553Ter) SNV Pathogenic 694730 rs1591031929 GRCh37: 10:100182212-100182212
GRCh38: 10:98422455-98422455
35 HPS1 NM_000195.5(HPS1):c.187G>T (p.Glu63Ter) SNV Pathogenic 627612 rs1591120765 GRCh37: 10:100195460-100195460
GRCh38: 10:98435703-98435703
36 HPS1 NM_000195.5(HPS1):c.1807C>T (p.Gln603Ter) SNV Pathogenic 627613 rs886077189 GRCh37: 10:100179852-100179852
GRCh38: 10:98420095-98420095
37 HPS1 NM_000195.5(HPS1):c.1472_1487dup (p.His497fs) Duplication Pathogenic 5277 rs281865163 GRCh37: 10:100183554-100183555
GRCh38: 10:98423797-98423798
38 HPS1 NM_000195.5(HPS1):c.972dup (p.Met325fs) Duplication Pathogenic 5278 rs281865082 GRCh37: 10:100186986-100186987
GRCh38: 10:98427229-98427230
39 HPS1 NM_000195.5(HPS1):c.391C>T (p.Arg131Ter) SNV Pathogenic 21104 rs281865076 GRCh37: 10:100195036-100195036
GRCh38: 10:98435279-98435279
40 DTNBP1 NM_032122.5(DTNBP1):c.177G>A (p.Trp59Ter) SNV Pathogenic 162098 rs727502866 GRCh37: 6:15638020-15638020
GRCh38: 6:15637789-15637789
41 HPS1 NM_000195.5(HPS1):c.1473dup (p.Ser492fs) Duplication Pathogenic 1030663 GRCh37: 10:100183568-100183569
GRCh38: 10:98423811-98423812
42 HPS1 NM_000195.5(HPS1):c.1189del (p.Gln397fs) Deletion Pathogenic/Likely pathogenic 21091 rs281865084 GRCh37: 10:100185444-100185444
GRCh38: 10:98425687-98425687
43 HPS1 NM_000195.5(HPS1):c.1632C>A (p.Phe544Leu) SNV Likely pathogenic 812729 rs748106098 GRCh37: 10:100182237-100182237
GRCh38: 10:98422480-98422480
44 HPS1 NM_000195.5(HPS1):c.988-44_1023delinsT Indel Likely pathogenic 280573 rs1591055649 GRCh37: 10:100185707-100185786
GRCh38: 10:98425950-98426029
45 HPS1 NM_000195.5(HPS1):c.81del (p.Arg27_Leu28insTer) Deletion Likely pathogenic 1032251 GRCh37: 10:100202917-100202917
GRCh38: 10:98443160-98443160
46 HPS1 NM_000195.5(HPS1):c.1276_1279dup (p.Asp427fs) Duplication Likely pathogenic 996363 GRCh37: 10:100185353-100185354
GRCh38: 10:98425596-98425597
47 HPS1 NM_000195.5(HPS1):c.875_878del (p.Asp292fs) Microsatellite Likely pathogenic 996364 GRCh37: 10:100189389-100189392
GRCh38: 10:98429632-98429635
48 HPS1 NM_000195.5(HPS1):c.399-14G>A SNV Likely pathogenic 627614 rs1260083432 GRCh37: 10:100193862-100193862
GRCh38: 10:98434105-98434105
49 HPS1 NM_000195.5(HPS1):c.507+2T>G SNV Likely pathogenic 694728 rs1591109881 GRCh37: 10:100193738-100193738
GRCh38: 10:98433981-98433981
50 HPS4 NM_022081.6(HPS4):c.*2171C>T SNV Uncertain significance 903362 GRCh37: 22:26847028-26847028
GRCh38: 22:26451062-26451062

Expression for Hermansky-Pudlak Syndrome with Pulmonary Fibrosis

Search GEO for disease gene expression data for Hermansky-Pudlak Syndrome with Pulmonary Fibrosis.

Pathways for Hermansky-Pudlak Syndrome with Pulmonary Fibrosis

Pathways related to Hermansky-Pudlak Syndrome with Pulmonary Fibrosis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.24 HPS4 HPS1 DTNBP1
2 10.58 HPS4 HPS1

GO Terms for Hermansky-Pudlak Syndrome with Pulmonary Fibrosis

Cellular components related to Hermansky-Pudlak Syndrome with Pulmonary Fibrosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lysosome GO:0005764 9.16 HPS4 HPS1
2 cytoplasmic vesicle GO:0031410 9.13 HPS4 HPS1 DTNBP1
3 BLOC-3 complex GO:0031085 8.62 HPS4 HPS1

Biological processes related to Hermansky-Pudlak Syndrome with Pulmonary Fibrosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 regulation of catalytic activity GO:0050790 9.37 HPS4 HPS1
2 vesicle-mediated transport GO:0016192 9.32 HPS4 HPS1
3 blood coagulation GO:0007596 9.26 HPS4 DTNBP1
4 lysosome organization GO:0007040 9.16 HPS4 HPS1
5 organelle organization GO:0006996 8.96 HPS4 DTNBP1
6 melanosome assembly GO:1903232 8.62 HPS4 HPS1

Molecular functions related to Hermansky-Pudlak Syndrome with Pulmonary Fibrosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 guanyl-nucleotide exchange factor activity GO:0005085 8.96 HPS4 HPS1
2 protein dimerization activity GO:0046983 8.62 HPS4 HPS1

Sources for Hermansky-Pudlak Syndrome with Pulmonary Fibrosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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