MCID: HRM016
MIFTS: 26

Hermansky-Pudlak Syndrome Without Pulmonary Fibrosis

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

Aliases & Classifications for Hermansky-Pudlak Syndrome Without Pulmonary Fibrosis

MalaCards integrated aliases for Hermansky-Pudlak Syndrome Without Pulmonary Fibrosis:

Name: Hermansky-Pudlak Syndrome Without Pulmonary Fibrosis 58
Hps Without Pulmonary Fibrosis 58

Characteristics:

Orphanet epidemiological data:

58
hermansky-pudlak syndrome without pulmonary fibrosis
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

Classifications:

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


External Ids:

ICD10 via Orphanet 33 E70.3
Orphanet 58 ORPHA231512

Summaries for Hermansky-Pudlak Syndrome Without Pulmonary Fibrosis

MalaCards based summary : Hermansky-Pudlak Syndrome Without Pulmonary Fibrosis, also known as hps without pulmonary fibrosis, is related to griscelli syndrome and hermansky-pudlak syndrome 6. An important gene associated with Hermansky-Pudlak Syndrome Without Pulmonary Fibrosis is HPS3 (HPS3 Biogenesis Of Lysosomal Organelles Complex 2 Subunit 1). Affiliated tissues include eye, and related phenotypes are hematopoietic system and immune system

Related Diseases for Hermansky-Pudlak Syndrome Without Pulmonary Fibrosis

Graphical network of the top 20 diseases related to Hermansky-Pudlak Syndrome Without Pulmonary Fibrosis:



Diseases related to Hermansky-Pudlak Syndrome Without Pulmonary Fibrosis

Symptoms & Phenotypes for Hermansky-Pudlak Syndrome Without Pulmonary Fibrosis

MGI Mouse Phenotypes related to Hermansky-Pudlak Syndrome Without Pulmonary Fibrosis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.56 CP HPS3 HPS5 HPS6
2 immune system MP:0005387 9.46 CP HPS3 HPS5 HPS6
3 pigmentation MP:0001186 9.26 CP HPS3 HPS5 HPS6
4 vision/eye MP:0005391 8.92 CP HPS3 HPS5 HPS6

Drugs & Therapeutics for Hermansky-Pudlak Syndrome Without Pulmonary Fibrosis

Search Clinical Trials , NIH Clinical Center for Hermansky-Pudlak Syndrome Without Pulmonary Fibrosis

Genetic Tests for Hermansky-Pudlak Syndrome Without Pulmonary Fibrosis

Anatomical Context for Hermansky-Pudlak Syndrome Without Pulmonary Fibrosis

MalaCards organs/tissues related to Hermansky-Pudlak Syndrome Without Pulmonary Fibrosis:

40
Eye

Publications for Hermansky-Pudlak Syndrome Without Pulmonary Fibrosis

Articles related to Hermansky-Pudlak Syndrome Without Pulmonary Fibrosis:

(show all 12)
# Title Authors PMID Year
1
Whole-genome sequencing of patients with rare diseases in a national health system. 6
32581362 2020
2
Clinico-molecular analysis of eleven patients with Hermansky-Pudlak type 5 syndrome, a mild form of HPS. 6
28640947 2017
3
Cellular and molecular defects in a patient with Hermansky-Pudlak syndrome type 5. 6
28296950 2017
4
Novel HPS6 mutations identified by whole-exome sequencing in two Japanese sisters with suspected ocular albinism. 6
27225848 2016
5
Hermansky-Pudlak syndrome (HPS5) in a nonagenarian. 6
24698632 2014
6
Hermansky-Pudlak syndrome (HPS5) in a nonagenarian. 6
23607980 2013
7
Clinical and cellular characterisation of Hermansky-Pudlak syndrome type 6. 6
19843503 2009
8
A new genetic isolate with a unique phenotype of syndromic oculocutaneous albinism: clinical, molecular, and cellular characteristics. 6
17041891 2006
9
Cellular, molecular and clinical characterization of patients with Hermansky-Pudlak syndrome type 5. 6
15296495 2004
10
Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6. 6
12548288 2003
11
Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other non-Puerto Rican patients with hypopigmentation and platelet storage-pool deficiency. 6
11590544 2001
12
Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico. 6
11455388 2001

Variations for Hermansky-Pudlak Syndrome Without Pulmonary Fibrosis

ClinVar genetic disease variations for Hermansky-Pudlak Syndrome Without Pulmonary Fibrosis:

6 (show top 50) (show all 295)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 HPS6 NM_024747.5(HPS6):c.1714_1717del (p.Leu572fs) Deletion Pathogenic 3151 rs281865113 GRCh37: 10:103826942-103826945
GRCh38: 10:102067185-102067188
2 HPS5 NM_007216.4(HPS5):c.1684_1687del (p.Val562fs) Deletion Pathogenic 3152 rs281865103 GRCh37: 11:18313400-18313403
GRCh38: 11:18291853-18291856
3 HPS3 NM_032383.5(HPS3):c.0_217+692del Deletion Pathogenic 4608 GRCh37: 3:148844501-148848419
GRCh38: 3:149126714-149130632
4 HPS3 NM_032383.5(HPS3):c.1691+2T>G SNV Pathogenic 4610 rs281865093 GRCh37: 3:148875320-148875320
GRCh38: 3:149157533-149157533
5 HPS3 , CP NM_032383.5(HPS3):c.2482-2A>G SNV Pathogenic 4611 rs397507168 GRCh37: 3:148881627-148881627
GRCh38: 3:149163840-149163840
6 HPS3 , CP NM_032383.5(HPS3):c.2589+1G>C SNV Pathogenic 4612 rs281865095 GRCh37: 3:148881737-148881737
GRCh38: 3:149163950-149163950
7 HPS3 NM_032383.5(HPS3):c.1189C>T (p.Arg397Trp) SNV Pathogenic 4613 rs121908316 GRCh37: 3:148868411-148868411
GRCh38: 3:149150624-149150624
8 HPS3 HPS3, 89-BP INS Insertion Pathogenic 4614 GRCh37:
GRCh38:
9 HPS3 , CP NM_032383.5(HPS3):c.2888-1612G>A SNV Pathogenic 21010 rs281865096 GRCh37: 3:148888270-148888270
GRCh38: 3:149170483-149170483
10 HPS5 NM_181507.1(HPS5):c.1871T>G (p.Leu624Arg) SNV Pathogenic 21817 rs281865102 GRCh37: 11:18313558-18313558
GRCh38: 11:18292011-18292011
11 HPS5 NM_181507.1(HPS5):c.2593C>T (p.Arg865Ter) SNV Pathogenic 21818 rs281865104 GRCh37: 11:18309206-18309206
GRCh38: 11:18287659-18287659
12 HPS5 NM_007216.4(HPS5):c.2282del (p.Leu761fs) Deletion Pathogenic 21819 rs281865105 GRCh37: 11:18309175-18309175
GRCh38: 11:18287628-18287628
13 HPS5 NM_007216.4(HPS5):c.2586_2587dup (p.Thr863fs) Duplication Pathogenic 21820 rs397507169 GRCh37: 11:18306914-18306915
GRCh38: 11:18285367-18285368
14 HPS5 NM_007216.4(HPS5):c.537dup (p.Lys180fs) Duplication Pathogenic 21822 rs281865101 GRCh37: 11:18326985-18326986
GRCh38: 11:18305438-18305439
15 HPS6 NM_024747.5(HPS6):c.1065dup (p.Leu356fs) Duplication Pathogenic 30671 rs1564899492 GRCh37: 10:103826295-103826296
GRCh38: 10:102066538-102066539
16 HPS6 NM_024747.5(HPS6):c.1865_1866del (p.Leu622fs) Deletion Pathogenic 30672 rs281865114 GRCh37: 10:103827096-103827097
GRCh38: 10:102067339-102067340
17 HPS6 NM_024747.5(HPS6):c.913C>T (p.Gln305Ter) SNV Pathogenic 30673 rs281865110 GRCh37: 10:103826144-103826144
GRCh38: 10:102066387-102066387
18 HPS6 NM_024747.5(HPS6):c.815C>T (p.Thr272Ile) SNV Pathogenic 30675 rs281865109 GRCh37: 10:103826046-103826046
GRCh38: 10:102066289-102066289
19 HPS6 NM_024747.5(HPS6):c.223C>T (p.Gln75Ter) SNV Pathogenic 30676 rs281865107 GRCh37: 10:103825454-103825454
GRCh38: 10:102065697-102065697
20 HPS6 NM_024747.5(HPS6):c.1234C>T (p.Gln412Ter) SNV Pathogenic 30677 rs281865112 GRCh37: 10:103826465-103826465
GRCh38: 10:102066708-102066708
21 HPS5 NM_181507.1(HPS5):c.3058+3A>G SNV Pathogenic 427882 rs113304476 GRCh37: 11:18305339-18305339
GRCh38: 11:18283792-18283792
22 HPS5 11p15.1 deletion Deletion Pathogenic 427885 GRCh37:
GRCh38:
23 HPS5 NM_181507.1(HPS5):c.2219T>C (p.Leu740Ser) SNV Pathogenic 427880 rs1131692149 GRCh37: 11:18313210-18313210
GRCh38: 11:18291663-18291663
24 HPS5 NM_007216.4(HPS5):c.2406_2407AG[1] (p.Glu803fs) Microsatellite Pathogenic 427883 rs1131692151 GRCh37: 11:18308224-18308225
GRCh38: 11:18286677-18286678
25 HPS5 NM_007216.4(HPS5):c.476_480del (p.Thr159fs) Deletion Pathogenic 427878 rs1131692147 GRCh37: 11:18327684-18327688
GRCh38: 11:18306137-18306141
26 HPS5 NM_007216.4(HPS5):c.1558del (p.Glu520fs) Deletion Pathogenic 427876 rs1131692146 GRCh37: 11:18313529-18313529
GRCh38: 11:18291982-18291982
27 HPS5 NM_181507.1(HPS5):c.1417C>T (p.Gln473Ter) SNV Pathogenic 427879 rs1131692148 GRCh37: 11:18318438-18318438
GRCh38: 11:18296891-18296891
28 HPS5 NM_181507.1(HPS5):c.219G>A (p.Arg73=) SNV Pathogenic 427881 rs1131692150 GRCh37: 11:18333461-18333461
GRCh38: 11:18311914-18311914
29 HPS5 NM_181507.1(HPS5):c.719G>C (p.Arg240Pro) SNV Pathogenic 427884 rs764296457 GRCh37: 11:18327787-18327787
GRCh38: 11:18306240-18306240
30 HPS5 NM_007216.4(HPS5):c.2754_2756del (p.Leu919del) Deletion Pathogenic 427877 rs753928208 GRCh37: 11:18303728-18303730
GRCh38: 11:18282181-18282183
31 HPS6 NM_024747.5(HPS6):c.2038C>T (p.Gln680Ter) SNV Pathogenic 431051 rs1131692333 GRCh37: 10:103827269-103827269
GRCh38: 10:102067512-102067512
32 HPS6 NM_024747.5(HPS6):c.1898del (p.Pro633fs) Deletion Pathogenic 431050 rs1131692332 GRCh37: 10:103827128-103827128
GRCh38: 10:102067371-102067371
33 HPS6 NM_024747.5(HPS6):c.1711_1712insAG (p.Cys571Ter) Insertion Pathogenic 435465 rs1220869113 GRCh37: 10:103826942-103826943
GRCh38: 10:102067185-102067186
34 HPS5 NM_181507.1(HPS5):c.107del (p.Lys36fs) Deletion Pathogenic 435459 rs1554948134 GRCh37: 11:18339299-18339299
GRCh38: 11:18317752-18317752
35 HPS3 , CP NM_032383.5(HPS3):c.2464C>T (p.Arg822Ter) SNV Pathogenic 930923 GRCh37: 3:148880648-148880648
GRCh38: 3:149162861-149162861
36 HPS5 NM_007216.4(HPS5):c.2637_2640del (p.Cys879fs) Deletion Pathogenic 280536 rs886041723 GRCh37: 11:18305418-18305421
GRCh38: 11:18283871-18283874
37 HPS6 NM_024747.5(HPS6):c.283del (p.Val95fs) Deletion Pathogenic 595731 rs1564899012 GRCh37: 10:103825513-103825513
GRCh38: 10:102065756-102065756
38 HPS3 NM_032383.5(HPS3):c.1163+1G>A SNV Pathogenic 4609 rs201227603 GRCh37: 3:148863334-148863334
GRCh38: 3:149145547-149145547
39 HPS6 NM_024747.6(HPS6):c.1162dup (p.Trp388fs) Duplication Pathogenic 1034072 GRCh37: 10:103826392-103826393
GRCh38: 10:102066635-102066636
40 HPS6 NM_024747.6(HPS6):c.220_223dup (p.Gln75fs) Microsatellite Pathogenic 1034073 GRCh37: 10:103825442-103825443
GRCh38: 10:102065685-102065686
41 HPS6 NM_024747.6(HPS6):c.1999C>T (p.Arg667Ter) SNV Likely pathogenic 996365 GRCh37: 10:103827230-103827230
GRCh38: 10:102067473-102067473
42 HPS6 NM_024747.6(HPS6):c.335G>A (p.Trp112Ter) SNV Likely pathogenic 996366 GRCh37: 10:103825566-103825566
GRCh38: 10:102065809-102065809
43 HPS6 NM_024747.6(HPS6):c.1732C>T (p.Arg578Ter) SNV Likely pathogenic 996367 GRCh37: 10:103826963-103826963
GRCh38: 10:102067206-102067206
44 HPS3 , CP NM_032383.5(HPS3):c.2737_2738GA[1] (p.Glu913fs) Microsatellite Likely pathogenic 548481 rs1277509410 GRCh37: 3:148884967-148884970
GRCh38: 3:149167180-149167183
45 HPS3 NM_032383.5(HPS3):c.89_114del (p.Arg30fs) Deletion Likely pathogenic 556558 rs1553750083 GRCh37: 3:148847595-148847620
GRCh38: 3:149129808-149129833
46 HPS6 NM_024747.5(HPS6):c.19_20delCT Microsatellite Likely pathogenic 623366 rs1590262288 GRCh37: 10:103825248-103825249
GRCh38: 10:102065491-102065492
47 HPS6 NM_024747.6(HPS6):c.1A>G (p.Met1Val) SNV Likely pathogenic 812730 rs763073715 GRCh37: 10:103825232-103825232
GRCh38: 10:102065475-102065475
48 HPS3 NM_032383.5(HPS3):c.1682_1683del (p.Cys561fs) Deletion Likely pathogenic 662551 rs778152054 GRCh37: 3:148875308-148875309
GRCh38: 3:149157521-149157522
49 HPS3 NM_032383.5(HPS3):c.1798C>T (p.Gln600Ter) SNV Likely pathogenic 666331 rs1576687466 GRCh37: 3:148876559-148876559
GRCh38: 3:149158772-149158772
50 HPS6 NM_024747.5(HPS6):c.1693T>G (p.Phe565Val) SNV Likely pathogenic 435464 rs1554903728 GRCh37: 10:103826924-103826924
GRCh38: 10:102067167-102067167

Expression for Hermansky-Pudlak Syndrome Without Pulmonary Fibrosis

Search GEO for disease gene expression data for Hermansky-Pudlak Syndrome Without Pulmonary Fibrosis.

Pathways for Hermansky-Pudlak Syndrome Without Pulmonary Fibrosis

GO Terms for Hermansky-Pudlak Syndrome Without Pulmonary Fibrosis

Cellular components related to Hermansky-Pudlak Syndrome Without Pulmonary Fibrosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lysosomal membrane GO:0005765 8.96 HPS6 CP
2 BLOC-2 complex GO:0031084 8.8 HPS6 HPS5 HPS3

Biological processes related to Hermansky-Pudlak Syndrome Without Pulmonary Fibrosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 blood coagulation GO:0007596 9.16 HPS6 HPS5
2 pigmentation GO:0043473 9.13 HPS6 HPS5 HPS3
3 organelle organization GO:0006996 8.8 HPS6 HPS5 HPS3

Sources for Hermansky-Pudlak Syndrome Without 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
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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
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71 UMLS via Orphanet
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