HPS3
MCID: HRM006
MIFTS: 43

Hermansky-Pudlak Syndrome 3 (HPS3)

Categories: Blood diseases, Eye diseases, Genetic diseases, Immune diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Respiratory diseases, Skin diseases

Aliases & Classifications for Hermansky-Pudlak Syndrome 3

MalaCards integrated aliases for Hermansky-Pudlak Syndrome 3:

Name: Hermansky-Pudlak Syndrome 3 57 12 72 29 13 6 15 70
Hps3 57 72
Albinism with Hemorrhagic Diathesis and Pigmented Reticuloendothelial Cells 70
Albinism with Hemorrhagic Diathesis and Pigmented Reticuloendothelial 72
Hermansky-Pudlak Syndrome, Type 3 39
Platelet Storage Pool Deficiency 70
Delta Storage Pool Disease 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
less severe phenotype than patients with other forms of hps


HPO:

31
hermansky-pudlak syndrome 3:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060541
OMIM® 57 614072
OMIM Phenotypic Series 57 PS203300
MeSH 44 D022861
UMLS 70 C0032197 C2931875 C3888001

Summaries for Hermansky-Pudlak Syndrome 3

UniProtKB/Swiss-Prot : 72 Hermansky-Pudlak syndrome 3: 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 3, also known as hps3, is related to hermansky-pudlak syndrome 1 and pulmonary fibrosis, and has symptoms including abdominal pain An important gene associated with Hermansky-Pudlak Syndrome 3 is HPS3 (HPS3 Biogenesis Of Lysosomal Organelles Complex 2 Subunit 1). The drugs Pirfenidone and Acetylcysteine have been mentioned in the context of this disorder. Affiliated tissues include retina and eye, and related phenotypes are visual impairment and hypopigmentation of hair

Disease Ontology : 12 A Hermasky-Pudlak syndrome that has material basis in homozygous or compound heterozygous mutation in the HPS3 gene on chromosome 3q24.

More information from OMIM: 614072 PS203300

Related Diseases for Hermansky-Pudlak Syndrome 3

Diseases in the Hermansky-Pudlak Syndrome family:

Hermansky-Pudlak Syndrome 1 Hermansky-Pudlak Syndrome 2
Hermansky-Pudlak Syndrome 3 Hermansky-Pudlak Syndrome 4
Hermansky-Pudlak Syndrome 5 Hermansky-Pudlak Syndrome 6
Hermansky-Pudlak Syndrome 7 Hermansky-Pudlak Syndrome 8
Hermansky-Pudlak Syndrome 9 Hermansky-Pudlak Syndrome 10
Hermansky-Pudlak Syndrome 11

Diseases related to Hermansky-Pudlak Syndrome 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 39)
# Related Disease Score Top Affiliating Genes
1 hermansky-pudlak syndrome 1 32.4 HPS6 HPS5 HPS3 CP
2 pulmonary fibrosis 31.9 HPS6 HPS5 HPS3
3 hermansky-pudlak syndrome without pulmonary fibrosis 31.9 HPS6 HPS5 HPS3 CP
4 oculocutaneous albinism 31.8 HPS6 HPS5 HPS3
5 storage pool platelet disease 31.6 HPS6 HPS5 HPS3
6 albinism, oculocutaneous, type iv 31.5 HPS6 HPS5 HPS3
7 albinism, oculocutaneous, type ii 31.5 HPS6 HPS5 HPS3
8 exotropia 31.5 HPS6 HPS5 HPS3
9 albinism, oculocutaneous, type iii 31.5 HPS6 HPS5 HPS3
10 hermansky-pudlak syndrome 30.6 HPS6 HPS5 HPS3 CP
11 hermansky-pudlak syndrome 6 30.5 HPS6 HPS5
12 hermansky-pudlak syndrome 5 30.4 HPS6 HPS5
13 hermansky-pudlak syndrome 2 11.4
14 hermansky-pudlak syndrome 4 11.4
15 hermansky-pudlak syndrome 7 11.4
16 hermansky-pudlak syndrome 8 11.4
17 hermansky-pudlak syndrome 9 11.4
18 isolated delta-storage pool disease 11.4
19 griscelli syndrome 10.9
20 pathologic nystagmus 10.9
21 hypopigmentation of the skin 10.9
22 von willebrand's disease 10.2
23 blood platelet disease 10.2
24 hermansky-pudlak syndrome 10 10.2
25 cholera 10.2
26 posttransplant acute limbic encephalitis 10.2
27 albinism 10.1
28 ehlers-danlos syndrome 10.1
29 thrombocytopenia 10.1
30 hemophilia 10.1
31 thrombasthenia 10.1
32 shaken baby syndrome 10.1
33 menkes disease 10.1
34 hemophilia a 10.1
35 glanzmann thrombasthenia 10.1
36 factor viii deficiency 10.1
37 griscelli syndrome, type 1 10.0 HPS6 HPS5
38 autosomal recessive disease 9.9
39 ectopic pregnancy 9.9 TROAP TRO BYSL

Graphical network of the top 20 diseases related to Hermansky-Pudlak Syndrome 3:



Diseases related to Hermansky-Pudlak Syndrome 3

Symptoms & Phenotypes for Hermansky-Pudlak Syndrome 3

Human phenotypes related to Hermansky-Pudlak Syndrome 3:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 visual impairment 31 HP:0000505
2 hypopigmentation of hair 31 HP:0005599
3 bruising susceptibility 31 HP:0000978
4 abnormal bleeding 31 HP:0001892
5 hypopigmentation of the skin 31 HP:0001010
6 horizontal nystagmus 31 HP:0000666
7 abnormal number of dense granules 31 HP:0012530

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
horizontal nystagmus
iris transillumination
reduced vision
hypopigmentation of retina
hypopigmentation of choroid

Hematology:
bleeding diathesis
absence of platelet dense bodies
lack of secondary aggregation response of platelets

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

Skin Nails Hair Hair:
hair pigment dilution relative to unaffected family members

Clinical features from OMIM®:

614072 (Updated 05-Apr-2021)

UMLS symptoms related to Hermansky-Pudlak Syndrome 3:


abdominal pain

Drugs & Therapeutics for Hermansky-Pudlak Syndrome 3

Drugs for Hermansky-Pudlak Syndrome 3 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 41)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Pirfenidone Approved, Investigational Phase 2 53179-13-8 40632
2
Acetylcysteine Approved, Investigational Phase 1, Phase 2 616-91-1 12035
3
Erythromycin Approved, Investigational, Vet_approved Phase 1, Phase 2 114-07-8 12560
4
Pravastatin Approved Phase 1, Phase 2 81093-37-0 54687
5
Zileuton Approved, Investigational, Withdrawn Phase 1, Phase 2 111406-87-2 60490
6
Angiotensin II Approved, Investigational Phase 1, Phase 2 68521-88-0, 11128-99-7, 4474-91-3 172198
7
Losartan Approved Phase 1, Phase 2 114798-26-4 3961
8 Anti-Arrhythmia Agents Phase 1, Phase 2
9 Erythromycin Estolate Phase 1, Phase 2
10 Respiratory System Agents Phase 1, Phase 2
11 Giapreza Phase 1, Phase 2
12 Hormone Antagonists Phase 1, Phase 2
13 Anticholesteremic Agents Phase 1, Phase 2
14 Gastrointestinal Agents Phase 1, Phase 2
15 Antimetabolites Phase 1, Phase 2
16 Anti-Infective Agents Phase 1, Phase 2
17 Antihypertensive Agents Phase 1, Phase 2
18 Analgesics, Non-Narcotic Phase 1, Phase 2
19 Analgesics Phase 1, Phase 2
20 Erythromycin stearate Phase 1, Phase 2
21 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 1, Phase 2
22 Expectorants Phase 1, Phase 2
23 Erythromycin Ethylsuccinate Phase 1, Phase 2
24 Antirheumatic Agents Phase 1, Phase 2
25 Anti-Inflammatory Agents Phase 1, Phase 2
26 Lipid Regulating Agents Phase 1, Phase 2
27 Antidotes Phase 1, Phase 2
28 Antiviral Agents Phase 1, Phase 2
29 Antioxidants Phase 1, Phase 2
30 Leukotriene Antagonists Phase 1, Phase 2
31 Pharmaceutical Solutions Phase 1, Phase 2
32 Hormones Phase 1, Phase 2
33 Anti-Bacterial Agents Phase 1, Phase 2
34 Angiotensinogen Phase 1, Phase 2
35 N-monoacetylcystine Phase 1, Phase 2
36 Angiotensin Receptor Antagonists Phase 1, Phase 2
37 Protective Agents Phase 1, Phase 2
38 Hypolipidemic Agents Phase 1, Phase 2
39 Anti-Inflammatory Agents, Non-Steroidal Phase 1, Phase 2
40 Angiotensin II Type 1 Receptor Blockers Phase 1, Phase 2
41
Anacetrapib Investigational 875446-37-0

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Therapeutic Clinical Trial of Oral Pirfenidone for the Pulmonary Fibrosis of Hermansky-Pudlak Syndrome Completed NCT00001596 Phase 2 Pirfenidone;Placebo
2 Pilot Study of a Multi-Drug Regimen for Severe Pulmonary Fibrosis in Hermansky-Pudlak Syndrome Terminated NCT00467831 Phase 1, Phase 2 Losartan;Zileuton;N-Acetylcysteine;Pravastatin;Erythromycin
3 A Cross-sectional REVEAL Sub-study Evaluating the Effect of Anacetrapib on Vascular Function and Arterial Stiffness [An Investigator Led Sub-study of HPS3/TIMI 55: REVEAL] Completed NCT02931188 Anacetrapib;Statin;Placebo

Search NIH Clinical Center for Hermansky-Pudlak Syndrome 3

Genetic Tests for Hermansky-Pudlak Syndrome 3

Genetic tests related to Hermansky-Pudlak Syndrome 3:

# Genetic test Affiliating Genes
1 Hermansky-Pudlak Syndrome 3 29 HPS3

Anatomical Context for Hermansky-Pudlak Syndrome 3

MalaCards organs/tissues related to Hermansky-Pudlak Syndrome 3:

40
Retina, Eye

Publications for Hermansky-Pudlak Syndrome 3

Articles related to Hermansky-Pudlak Syndrome 3:

(show all 47)
# Title Authors PMID Year
1
Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico. 61 6 57
11455388 2001
2
Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other non-Puerto Rican patients with hypopigmentation and platelet storage-pool deficiency. 6 61
11590544 2001
3
Evidence for locus heterogeneity in Puerto Ricans with Hermansky-Pudlak syndrome. 57
9345105 1997
4
A zinc transporter, transmembrane protein 163, is critical for the biogenesis of platelet dense granules. 61
33513603 2021
5
Prospective Study of the Phenotypic and Mutational Spectrum of Ocular Albinism and Oculocutaneous Albinism. 61
33808351 2021
6
Current landscape of Oculocutaneous Albinism in Japan. 61
32969595 2021
7
Inflammatory bowel disease in Hermansky-Pudlak syndrome: a retrospective single-centre cohort study. 61
33423334 2021
8
Novel variant in HPS3 gene in a patient with Hermansky Pudlak syndrome (HPS) type 3. 61
31880485 2020
9
Novel Brown Coat Color (Cocoa) in French Bulldogs Results from a Nonsense Variant in HPS3. 61
32526956 2020
10
Human exome and mouse embryonic expression data implicate ZFHX3, TRPS1, and CHD7 in human esophageal atresia. 61
32502225 2020
11
NGS-based targeted resequencing identified rare subtypes of albinism: Providing accurate molecular diagnosis for Japanese patients with albinism. 61
31141302 2019
12
Novel genetic variant of HPS1 gene in Hermansky-Pudlak syndrome with fulminant progression of pulmonary fibrosis: a case report. 61
31619213 2019
13
Instability of BLOC-2 and BLOC-3 in Chinese patients with Hermansky-Pudlak syndrome. 61
30387913 2019
14
Identification of novel variants in ten patients with Hermansky-Pudlak syndrome by high-throughput sequencing. 61
30990103 2019
15
[Molecular analysis of gene mutations in eight patients with Glanzmann's thrombasthenia]. 61
30138987 2018
16
Novel mutation in two brothers with Hermansky Pudlak syndrome type 3. 61
28284561 2017
17
Clinico-molecular analysis of eleven patients with Hermansky-Pudlak type 5 syndrome, a mild form of HPS. 61
28640947 2017
18
Cellular and molecular defects in a patient with Hermansky-Pudlak syndrome type 5. 61
28296950 2017
19
NGS-based 100-gene panel of hypopigmentation identifies mutations in Chinese Hermansky-Pudlak syndrome patients. 61
27593200 2016
20
Ocular Findings in Patients with the Hermansky-Pudlak Syndrome (Types 1 and 3). 61
24766090 2016
21
Iron upregulates melanogenesis in cultured retinal pigment epithelial cells. 61
25277027 2014
22
Structural characterization and stimulating effect on osteoblast differentiation of a purified heteropolysaccharide isolated from Hedysarum polybotrys. 61
25037407 2014
23
snow white, a zebrafish model of Hermansky-Pudlak Syndrome type 5. 61
23893484 2013
24
The Arabidopsis gene hypersensitive to phosphate starvation 3 encodes ethylene overproduction 1. 61
22623414 2012
25
Antidiabetic properties of purified polysaccharide from Hedysarum polybotrys. 61
20130740 2010
26
Genetic determinants of hair and eye colours in the Scottish and Danish populations. 61
20042077 2009
27
Platelet dense-granule secretion plays a critical role in thrombosis and subsequent vascular remodeling in atherosclerotic mice. 61
19687360 2009
28
Identifying putative promoter regions of Hermansky-Pudlak syndrome genes by means of phylogenetic footprinting. 61
19523149 2009
29
A large analphoid invdup(3)(q22.3qter) marker chromosome characterized by array-CGH in a child with malformations, mental retardation, ambiguous genitalia and Blaschko's lines. 61
17567547 2007
30
Improper trafficking of melanocyte-specific proteins in Hermansky-Pudlak syndrome type-5. 61
17301833 2007
31
Ileal Crohn's disease in a woman with Hermansky-Pudlak syndrome. 61
16733390 2006
32
Genetic testing for oculocutaneous albinism type 1 and 2 and Hermansky-Pudlak syndrome type 1 and 3 mutations in Puerto Rico. 61
16417222 2006
33
Association of the Hermansky-Pudlak syndrome type-3 protein with clathrin. 61
16159387 2005
34
Melanocyte-specific proteins are aberrantly trafficked in melanocytes of Hermansky-Pudlak syndrome-type 3. 61
15632015 2005
35
Reduced pigmentation (rp), a mouse model of Hermansky-Pudlak syndrome, encodes a novel component of the BLOC-1 complex. 61
15265785 2004
36
Hermansky-Pudlak syndrome type 4 in a patient from Sri Lanka with pulmonary fibrosis. 61
15108212 2004
37
Characterization of BLOC-2, a complex containing the Hermansky-Pudlak syndrome proteins HPS3, HPS5 and HPS6. 61
15030569 2004
38
The Hermansky-Pudlak syndrome 3 (cocoa) protein is a component of the biogenesis of lysosome-related organelles complex-2 (BLOC-2). 61
14718540 2004
39
Hermansky-Pudlak syndrome type 4 (HPS-4): clinical and molecular characteristics. 61
12664304 2003
40
Biogenesis of lysosome-related organelles complex 3 (BLOC-3): a complex containing the Hermansky-Pudlak syndrome (HPS) proteins HPS1 and HPS4. 61
12847290 2003
41
Hermansky-Pudlak syndrome: vesicle formation from yeast to man. 61
12453182 2002
42
Hermansky-Pudlak syndrome type 1: gene organization, novel mutations, and clinical-molecular review of non-Puerto Rican cases. 61
12442288 2002
43
Disorders of vesicles of lysosomal lineage: the Hermansky-Pudlak syndromes. 61
12125811 2002
44
Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene. 61
11836498 2002
45
The gene mutated in cocoa mice, carrying a defect of organelle biogenesis, is a homologue of the human Hermansky-Pudlak syndrome-3 gene. 61
11707070 2001
46
Characterization of the murine gene corresponding to human Hermansky-Pudlak syndrome type 3: exclusion of the Subtle gray (sut) locus. 61
11592818 2001
47
Hermansky-Pudlak Syndrome 61
20301464 2000

Variations for Hermansky-Pudlak Syndrome 3

ClinVar genetic disease variations for Hermansky-Pudlak Syndrome 3:

6 (show top 50) (show all 102)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 HPS3 NM_032383.5(HPS3):c.0_217+692del Deletion Pathogenic 4608 GRCh37: 3:148844501-148848419
GRCh38: 3:149126714-149130632
2 HPS3 NM_032383.5(HPS3):c.1691+2T>G SNV Pathogenic 4610 rs281865093 GRCh37: 3:148875320-148875320
GRCh38: 3:149157533-149157533
3 HPS3 , CP NM_032383.5(HPS3):c.2482-2A>G SNV Pathogenic 4611 rs397507168 GRCh37: 3:148881627-148881627
GRCh38: 3:149163840-149163840
4 HPS3 , CP NM_032383.5(HPS3):c.2589+1G>C SNV Pathogenic 4612 rs281865095 GRCh37: 3:148881737-148881737
GRCh38: 3:149163950-149163950
5 HPS3 NM_032383.5(HPS3):c.1189C>T (p.Arg397Trp) SNV Pathogenic 4613 rs121908316 GRCh37: 3:148868411-148868411
GRCh38: 3:149150624-149150624
6 HPS3 HPS3, 89-BP INS Insertion Pathogenic 4614 GRCh37:
GRCh38:
7 HPS3 , CP NM_032383.5(HPS3):c.2888-1612G>A SNV Pathogenic 21010 rs281865096 GRCh37: 3:148888270-148888270
GRCh38: 3:149170483-149170483
8 HPS3 , CP NM_032383.5(HPS3):c.2464C>T (p.Arg822Ter) SNV Pathogenic 930923 GRCh37: 3:148880648-148880648
GRCh38: 3:149162861-149162861
9 HPS3 NM_032383.5(HPS3):c.1163+1G>A SNV Pathogenic 4609 rs201227603 GRCh37: 3:148863334-148863334
GRCh38: 3:149145547-149145547
10 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
11 HPS3 NM_032383.5(HPS3):c.89_114del (p.Arg30fs) Deletion Likely pathogenic 556558 rs1553750083 GRCh37: 3:148847595-148847620
GRCh38: 3:149129808-149129833
12 HPS3 NM_032383.5(HPS3):c.1798C>T (p.Gln600Ter) SNV Likely pathogenic 666331 rs1576687466 GRCh37: 3:148876559-148876559
GRCh38: 3:149158772-149158772
13 HPS3 NM_032383.5(HPS3):c.1682_1683del (p.Cys561fs) Deletion Likely pathogenic 662551 rs778152054 GRCh37: 3:148875308-148875309
GRCh38: 3:149157521-149157522
14 HPS3 NM_032383.5(HPS3):c.1058A>G (p.Tyr353Cys) SNV Uncertain significance 899493 GRCh37: 3:148863228-148863228
GRCh38: 3:149145441-149145441
15 HPS3 NM_032383.5(HPS3):c.1125G>A (p.Gln375=) SNV Uncertain significance 750849 rs367816094 GRCh37: 3:148863295-148863295
GRCh38: 3:149145508-149145508
16 HPS3 NM_032383.5(HPS3):c.196C>T (p.Arg66Cys) SNV Uncertain significance 343691 rs529838933 GRCh37: 3:148847706-148847706
GRCh38: 3:149129919-149129919
17 HPS3 NM_032383.5(HPS3):c.-43C>A SNV Uncertain significance 343689 rs375227018 GRCh37: 3:148847468-148847468
GRCh38: 3:149129681-149129681
18 HPS3 NM_032383.5(HPS3):c.1153G>A (p.Val385Ile) SNV Uncertain significance 343702 rs749726836 GRCh37: 3:148863323-148863323
GRCh38: 3:149145536-149145536
19 HPS3 , CP NM_000096.4(CP):c.*572A>G SNV Uncertain significance 343745 rs561191589 GRCh37: 3:148890929-148890929
GRCh38: 3:149173142-149173142
20 HPS3 , CP NM_032383.5(HPS3):c.2699G>A (p.Arg900His) SNV Uncertain significance 343714 rs202157837 GRCh37: 3:148884930-148884930
GRCh38: 3:149167143-149167143
21 HPS3 , CP NM_000096.4(CP):c.*343A>G SNV Uncertain significance 343748 rs886058085 GRCh37: 3:148891158-148891158
GRCh38: 3:149173371-149173371
22 HPS3 , CP NM_032383.5(HPS3):c.2887+8G>T SNV Uncertain significance 899561 GRCh37: 3:148885778-148885778
GRCh38: 3:149167991-149167991
23 HPS3 , CP NM_032383.5(HPS3):c.2936A>G (p.Asn979Ser) SNV Uncertain significance 899562 GRCh37: 3:148889930-148889930
GRCh38: 3:149172143-149172143
24 HPS3 , CP NM_032383.5(HPS3):c.*95A>C SNV Uncertain significance 899563 GRCh37: 3:148890104-148890104
GRCh38: 3:149172317-149172317
25 HPS3 , CP NM_000096.4(CP):c.*583T>C SNV Uncertain significance 343744 rs886058084 GRCh37: 3:148890918-148890918
GRCh38: 3:149173131-149173131
26 HPS3 , CP NM_000096.4(CP):c.*536G>C SNV Uncertain significance 899640 GRCh37: 3:148890965-148890965
GRCh38: 3:149173178-149173178
27 HPS3 NM_032383.5(HPS3):c.-50C>T SNV Uncertain significance 900556 GRCh37: 3:148847461-148847461
GRCh38: 3:149129674-149129674
28 HPS3 NM_032383.5(HPS3):c.10C>T (p.Leu4=) SNV Uncertain significance 798396 rs1343390851 GRCh37: 3:148847520-148847520
GRCh38: 3:149129733-149129733
29 HPS3 NM_032383.5(HPS3):c.132C>A (p.Phe44Leu) SNV Uncertain significance 900557 GRCh37: 3:148847642-148847642
GRCh38: 3:149129855-149129855
30 HPS3 NM_032383.5(HPS3):c.1200G>C (p.Ala400=) SNV Uncertain significance 900627 GRCh37: 3:148868422-148868422
GRCh38: 3:149150635-149150635
31 HPS3 , CP NM_000096.4(CP):c.*373C>T SNV Uncertain significance 900780 GRCh37: 3:148891128-148891128
GRCh38: 3:149173341-149173341
32 HPS3 NM_032383.5(HPS3):c.323T>C (p.Met108Thr) SNV Uncertain significance 902239 GRCh37: 3:148857896-148857896
GRCh38: 3:149140109-149140109
33 HPS3 NM_032383.5(HPS3):c.338T>G (p.Val113Gly) SNV Uncertain significance 902240 GRCh37: 3:148857911-148857911
GRCh38: 3:149140124-149140124
34 HPS3 NM_032383.5(HPS3):c.392C>T (p.Pro131Leu) SNV Uncertain significance 902241 GRCh37: 3:148857965-148857965
GRCh38: 3:149140178-149140178
35 HPS3 NM_032383.5(HPS3):c.398C>T (p.Ser133Leu) SNV Uncertain significance 902242 GRCh37: 3:148857971-148857971
GRCh38: 3:149140184-149140184
36 HPS3 NM_032383.5(HPS3):c.500A>G (p.Asn167Ser) SNV Uncertain significance 902243 GRCh37: 3:148858073-148858073
GRCh38: 3:149140286-149140286
37 HPS3 NM_032383.5(HPS3):c.592G>A (p.Val198Ile) SNV Uncertain significance 902244 GRCh37: 3:148858165-148858165
GRCh38: 3:149140378-149140378
38 HPS3 NM_032383.5(HPS3):c.1509+5T>C SNV Uncertain significance 902307 GRCh37: 3:148873007-148873007
GRCh38: 3:149155220-149155220
39 HPS3 , CP NM_032383.5(HPS3):c.*135T>C SNV Uncertain significance 343732 rs375383865 GRCh37: 3:148890144-148890144
GRCh38: 3:149172357-149172357
40 HPS3 NM_032383.5(HPS3):c.1196G>T (p.Ser399Ile) SNV Uncertain significance 343703 rs886058078 GRCh37: 3:148868418-148868418
GRCh38: 3:149150631-149150631
41 HPS3 , CP NM_000096.4(CP):c.*373C>G SNV Uncertain significance 343747 rs370247691 GRCh37: 3:148891128-148891128
GRCh38: 3:149173341-149173341
42 HPS3 , CP NM_032383.5(HPS3):c.*239G>A SNV Uncertain significance 343735 rs886058083 GRCh37: 3:148890248-148890248
GRCh38: 3:149172461-149172461
43 HPS3 NM_032383.5(HPS3):c.571G>A (p.Val191Ile) SNV Uncertain significance 343692 rs779612018 GRCh37: 3:148858144-148858144
GRCh38: 3:149140357-149140357
44 HPS3 NM_032383.5(HPS3):c.51C>T (p.Pro17=) SNV Uncertain significance 227429 rs141883346 GRCh37: 3:148847561-148847561
GRCh38: 3:149129774-149129774
45 HPS3 , CP NM_032383.5(HPS3):c.2658C>T (p.Asp886=) SNV Uncertain significance 343712 rs141916243 GRCh37: 3:148884889-148884889
GRCh38: 3:149167102-149167102
46 HPS3 NM_032383.5(HPS3):c.2224G>A (p.Val742Met) SNV Uncertain significance 343711 rs886058079 GRCh37: 3:148880052-148880052
GRCh38: 3:149162265-149162265
47 HPS3 NM_032383.5(HPS3):c.1208C>T (p.Ala403Val) SNV Uncertain significance 343704 rs773950483 GRCh37: 3:148868430-148868430
GRCh38: 3:149150643-149150643
48 HPS3 , CP NM_032383.5(HPS3):c.*96T>A SNV Uncertain significance 343716 rs879086473 GRCh37: 3:148890105-148890105
GRCh38: 3:149172318-149172318
49 HPS3 NM_032383.5(HPS3):c.1152C>T (p.His384=) SNV Uncertain significance 343701 rs113381494 GRCh37: 3:148863322-148863322
GRCh38: 3:149145535-149145535
50 HPS3 , CP NM_000096.4(CP):c.*1081T>A SNV Uncertain significance 343737 rs188137938 GRCh37: 3:148890420-148890420
GRCh38: 3:149172633-149172633

UniProtKB/Swiss-Prot genetic disease variations for Hermansky-Pudlak Syndrome 3:

72
# Symbol AA change Variation ID SNP ID
1 HPS3 p.Arg397Trp VAR_013251 rs121908316

Expression for Hermansky-Pudlak Syndrome 3

Search GEO for disease gene expression data for Hermansky-Pudlak Syndrome 3.

Pathways for Hermansky-Pudlak Syndrome 3

GO Terms for Hermansky-Pudlak Syndrome 3

Cellular components related to Hermansky-Pudlak Syndrome 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 midbody GO:0030496 9.13 TBCK SHCBP1 NUDC
2 BLOC-2 complex GO:0031084 8.8 HPS6 HPS5 HPS3

Biological processes related to Hermansky-Pudlak Syndrome 3 according to GeneCards Suite gene sharing:

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

Sources for Hermansky-Pudlak Syndrome 3

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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