HPS4
MCID: HRM007
MIFTS: 45

Hermansky-Pudlak Syndrome 4 (HPS4)

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 4

MalaCards integrated aliases for Hermansky-Pudlak Syndrome 4:

Name: Hermansky-Pudlak Syndrome 4 57 12 72 29 13 6 15 70
Hps4 57 72
Albinism with Hemorrhagic Diathesis and Pigmented Reticuloendothelial Cells 70
Albinism with Hemorrhagic Diathesis and Pigmented Reticuloendothelial 72
Hermansky-Pudlak Syndrome, Type 4 39
Platelet Storage Pool Deficiency 70
Delta Storage Pool Disease 72

Characteristics:

OMIM®:

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


HPO:

31
hermansky-pudlak syndrome 4:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060542
OMIM® 57 614073
OMIM Phenotypic Series 57 PS203300
MeSH 44 D022861
MedGen 41 C3484357
UMLS 70 C0032197 C2931875 C3484357

Summaries for Hermansky-Pudlak Syndrome 4

UniProtKB/Swiss-Prot : 72 Hermansky-Pudlak syndrome 4: 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 4, also known as hps4, is related to hermansky-pudlak syndrome and hermansky-pudlak syndrome 1, and has symptoms including abdominal pain An important gene associated with Hermansky-Pudlak Syndrome 4 is HPS4 (HPS4 Biogenesis Of Lysosomal Organelles Complex 3 Subunit 2), and among its related pathways/superpathways is RAB GEFs exchange GTP for GDP on RABs. The drugs Pirfenidone and Acetylcysteine have been mentioned in the context of this disorder. Affiliated tissues include retina and lung, and related phenotypes are pulmonary fibrosis and reduced visual acuity

Disease Ontology : 12 A Hermansky-Pudlak syndrome that has material basis in homozygous or compound heterozygous mutation in the HPS4 gene on chromosome 22q12.1.

OMIM® : 57 Hermansky-Pudlak syndrome-4 (HPS4) is characterized by oculocutaneous albinism in association with easy bruising or a bleeding tendency and absence of platelet dense bodies. Some patients also exhibit pulmonary fibrosis and/or granulomatous colitis (Anderson et al., 2003). For a general phenotypic description and a discussion of genetic heterogeneity of Hermansky-Pudlak syndrome, see HPS1 (203300). (614073) (Updated 05-Apr-2021)

Related Diseases for Hermansky-Pudlak Syndrome 4

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 4 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 43)
# Related Disease Score Top Affiliating Genes
1 hermansky-pudlak syndrome 29.8 LYST HPS4 CCZ1B CCZ1
2 hermansky-pudlak syndrome 1 11.5
3 hermansky-pudlak syndrome 2 11.4
4 hermansky-pudlak syndrome 3 11.4
5 hermansky-pudlak syndrome 5 11.4
6 hermansky-pudlak syndrome 6 11.4
7 hermansky-pudlak syndrome 7 11.4
8 hermansky-pudlak syndrome 8 11.4
9 hermansky-pudlak syndrome 9 11.4
10 isolated delta-storage pool disease 11.4
11 oculocutaneous albinism 11.2
12 pulmonary fibrosis 11.2
13 ocular albinism 11.0
14 intestinal disease 11.0
15 storage pool platelet disease 10.9
16 albinism, oculocutaneous, type ii 10.9
17 albinism, oculocutaneous, type iii 10.9
18 griscelli syndrome, type 1 10.9
19 albinism, oculocutaneous, type iv 10.9
20 griscelli syndrome 10.9
21 autosomal recessive disease 10.5
22 pneumonia 10.4
23 von willebrand's disease 10.2
24 blood platelet disease 10.2
25 fibrosis of extraocular muscles, congenital, 1 10.2
26 lung disease 10.2
27 albinism 10.2
28 factor viii deficiency 10.1
29 glanzmann thrombasthenia 10.1
30 hemophilia a 10.1
31 menkes disease 10.1
32 ehlers-danlos syndrome 10.1
33 thrombocytopenia 10.1
34 hemophilia 10.1
35 thrombasthenia 10.1
36 shaken baby syndrome 10.1
37 posttransplant acute limbic encephalitis 10.0
38 schizophrenia 9.9
39 melanoma 9.9
40 hermansky-pudlak syndrome with pulmonary fibrosis 9.9
41 char syndrome 9.6 TFAP2B TBX20
42 holt-oram syndrome 9.6 TFAP2B TBX20
43 patent ductus arteriosus 1 9.5 TFAP2B TBX20

Graphical network of the top 20 diseases related to Hermansky-Pudlak Syndrome 4:



Diseases related to Hermansky-Pudlak Syndrome 4

Symptoms & Phenotypes for Hermansky-Pudlak Syndrome 4

Human phenotypes related to Hermansky-Pudlak Syndrome 4:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 pulmonary fibrosis 31 HP:0002206
2 reduced visual acuity 31 HP:0007663
3 epistaxis 31 HP:0000421
4 bruising susceptibility 31 HP:0000978
5 ocular albinism 31 HP:0001107
6 hypoplasia of the fovea 31 HP:0007750
7 restrictive ventilatory defect 31 HP:0002091
8 horizontal nystagmus 31 HP:0000666
9 albinism 31 HP:0001022
10 menorrhagia 31 HP:0000132
11 abnormal platelet granules 31 HP:0011883

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Respiratory Lung:
pulmonary fibrosis
restrictive lung disease

Head And Neck Nose:
epistaxis

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

Abdomen Gastrointestinal:
granulomatous colitis

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

Head And Neck Eyes:
reduced visual acuity
horizontal nystagmus
iris transillumination
foveal hypoplasia
hypopigmentation of retina

Genitourinary Internal Genitalia Female:
menorrhagia

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

Skin Nails Hair Skin Histology:
weakly pigmented basal cell layer
normal number of melanocytes
reduced amount of melanin pigment in melanocytes
accumulation of ceroid pigment in perivascular macrophages

Clinical features from OMIM®:

614073 (Updated 05-Apr-2021)

UMLS symptoms related to Hermansky-Pudlak Syndrome 4:


abdominal pain

Drugs & Therapeutics for Hermansky-Pudlak Syndrome 4

Drugs for Hermansky-Pudlak Syndrome 4 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 40)
# 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

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

Search NIH Clinical Center for Hermansky-Pudlak Syndrome 4

Genetic Tests for Hermansky-Pudlak Syndrome 4

Genetic tests related to Hermansky-Pudlak Syndrome 4:

# Genetic test Affiliating Genes
1 Hermansky-Pudlak Syndrome 4 29 HPS4

Anatomical Context for Hermansky-Pudlak Syndrome 4

MalaCards organs/tissues related to Hermansky-Pudlak Syndrome 4:

40
Retina, Lung

Publications for Hermansky-Pudlak Syndrome 4

Articles related to Hermansky-Pudlak Syndrome 4:

(show top 50) (show all 51)
# Title Authors PMID Year
1
Hermansky-Pudlak syndrome type 4 in a patient from Sri Lanka with pulmonary fibrosis. 61 6 57
15108212 2004
2
Hermansky-Pudlak syndrome type 4 (HPS-4): clinical and molecular characteristics. 61 57 6
12664304 2003
3
Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene. 57 6 61
11836498 2002
4
Current landscape of Oculocutaneous Albinism in Japan. 61
32969595 2021
5
Inflammatory bowel disease in Hermansky-Pudlak syndrome: a retrospective single-centre cohort study. 61
33423334 2021
6
Periodic albinism of a widely used albino mutant of Xenopus laevis caused by deletion of two exons in the Hermansky-Pudlak syndrome type 4 gene. 61
33147376 2021
7
Serious neonatal morbidities are associated with differences in DNA methylation among very preterm infants. 61
33076993 2020
8
Hexa-Longin domain scaffolds for inter-Rab signalling. 61
31562761 2020
9
VARP and Rab9 Are Dispensable for the Rab32/BLOC-3 Dependent Salmonella Killing. 61
33392103 2020
10
NGS-based targeted resequencing identified rare subtypes of albinism: Providing accurate molecular diagnosis for Japanese patients with albinism. 61
31141302 2019
11
Novel genetic variant of HPS1 gene in Hermansky-Pudlak syndrome with fulminant progression of pulmonary fibrosis: a case report. 61
31619213 2019
12
A novel mutation causes Hermansky-Pudlak syndrome type 4 with pulmonary fibrosis in 2 siblings from China. 61
31415434 2019
13
Haemophilus parasuis infection in 3D4/21 cells induces autophagy through the AMPK pathway. 61
30977277 2019
14
Modeling of Fibrotic Lung Disease Using 3D Organoids Derived from Human Pluripotent Stem Cells. 61
31216486 2019
15
Instability of BLOC-2 and BLOC-3 in Chinese patients with Hermansky-Pudlak syndrome. 61
30387913 2019
16
The BLOC-3 subunit HPS4 is required for activation of Rab32/38 GTPases in melanogenesis, but its Rab9 activity is dispensable for melanogenesis. 61
30837268 2019
17
Identification of novel variants in ten patients with Hermansky-Pudlak syndrome by high-throughput sequencing. 61
30990103 2019
18
Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising. 61
30791930 2019
19
Use of Targeted High-Throughput Sequencing for Genetic Classification of Patients with Bleeding Diathesis and Suspected Platelet Disorder. 61
31249973 2018
20
[Molecular analysis of gene mutations in eight patients with Glanzmann's thrombasthenia]. 61
30138987 2018
21
Characterization of melanosomes and melanin in Japanese patients with Hermansky-Pudlak syndrome types 1, 4, 6, and 9. 61
29054114 2018
22
Coinfection with Haemophilus parasuis serovar 4 increases the virulence of porcine circovirus type 2 in piglets. 61
29157279 2017
23
A deletion in the Hermansky-Pudlak syndrome 4 (Hps4) gene appears to be responsible for albinism in channel catfish. 61
28289846 2017
24
Multiple Types of Guanine Nucleotide Exchange Factors (GEFs) for Rab Small GTPases. 61
27246931 2016
25
Tauroursodeoxycholic Acid Protects Retinal Function and Structure in rd1 Mice. 61
26427442 2016
26
Meta-Analysis of Genome-Wide Association Studies Identifies Genetic Risk Factors for Stroke in African Americans. 61
26089329 2015
27
Deciphering Mineral Homeostasis in Barley Seed Transfer Cells at Transcriptional Level. 61
26536247 2015
28
Association of the Hermansky-Pudlak syndrome type 4 (HPS4) gene variants with cognitive function in patients with schizophrenia and healthy subjects. 61
24168225 2013
29
Structure and antioxidant activity study of sulfated acetamido-polysaccharide from Radix Hedysari. 61
23685046 2013
30
An association study of the Hermansky-Pudlak syndrome type 4 gene in schizophrenic patients. 61
23563589 2013
31
A divalent interaction between HPS1 and HPS4 is required for the formation of the biogenesis of lysosome-related organelle complex-3 (BLOC-3). 61
23103514 2013
32
Hermansky-Pudlak syndrome type 4 with interstitial pneumonia. 61
26029628 2013
33
BLOC-3 mutated in Hermansky-Pudlak syndrome is a Rab32/38 guanine nucleotide exchange factor. 61
23084991 2012
34
HPS4/SABRE regulates plant responses to phosphate starvation through antagonistic interaction with ethylene signalling. 61
22615140 2012
35
Clinical, molecular, and cellular features of non-Puerto Rican Hermansky-Pudlak syndrome patients of Hispanic descent. 61
21833017 2011
36
Early origin of genes encoding subunits of biogenesis of lysosome-related organelles complex-1, -2 and -3. 61
20102546 2010
37
Assembly of the biogenesis of lysosome-related organelles complex-3 (BLOC-3) and its interaction with Rab9. 61
20048159 2010
38
Antidiabetic properties of purified polysaccharide from Hedysarum polybotrys. 61
20130740 2010
39
Silencing by small RNAs is linked to endosomal trafficking. 61
19684574 2009
40
Comprehensive analysis of oculocutaneous albinism among non-Hispanic caucasians shows that OCA1 is the most prevalent OCA type. 61
18463683 2008
41
A comprehensive genetic study of autosomal recessive ocular albinism in Caucasian patients. 61
18326704 2008
42
Ileal Crohn's disease in a woman with Hermansky-Pudlak syndrome. 61
16733390 2006
43
The CHiPS Domain--ancient traces for the Hermansky-Pudlak syndrome. 61
15941405 2005
44
Reduced pigmentation (rp), a mouse model of Hermansky-Pudlak syndrome, encodes a novel component of the BLOC-1 complex. 61
15265785 2004
45
BLOC-3, a protein complex containing the Hermansky-Pudlak syndrome gene products HPS1 and HPS4. 61
12756248 2003
46
Biogenesis of lysosome-related organelles complex 3 (BLOC-3): a complex containing the Hermansky-Pudlak syndrome (HPS) proteins HPS1 and HPS4. 61
12847290 2003
47
Cappuccino, a mouse model of Hermansky-Pudlak syndrome, encodes a novel protein that is part of the pallidin-muted complex (BLOC-1). 61
12576321 2003
48
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. 61
12663659 2003
49
Hermansky-Pudlak syndrome: vesicle formation from yeast to man. 61
12453182 2002
50
Hermansky-Pudlak syndrome type 1: gene organization, novel mutations, and clinical-molecular review of non-Puerto Rican cases. 61
12442288 2002

Variations for Hermansky-Pudlak Syndrome 4

ClinVar genetic disease variations for Hermansky-Pudlak Syndrome 4:

6 (show top 50) (show all 122)
# 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 HPS4 NM_022081.6(HPS4):c.1866del (p.Thr623fs) Deletion Pathogenic 21676 rs281865099 GRCh37: 22:26853914-26853914
GRCh38: 22:26457948-26457948
11 HPS4 NM_022081.6(HPS4):c.461A>G (p.His154Arg) SNV Pathogenic 21678 rs281865098 GRCh37: 22:26868308-26868308
GRCh38: 22:26472342-26472342
12 HPS4 NM_022081.6(HPS4):c.57dup (p.Leu20fs) Duplication Pathogenic 21679 rs281865097 GRCh37: 22:26875305-26875306
GRCh38: 22:26479339-26479340
13 HPS4 NM_022081.6(HPS4):c.1535C>T (p.Ser512Leu) SNV Uncertain significance 341007 rs150216540 GRCh37: 22:26860061-26860061
GRCh38: 22:26464095-26464095
14 HPS4 NM_022081.6(HPS4):c.*1120C>T SNV Uncertain significance 340993 rs886057312 GRCh37: 22:26848079-26848079
GRCh38: 22:26452113-26452113
15 HPS4 NM_022081.5(HPS4):c.-479+5G>A SNV Uncertain significance 341031 rs886057322 GRCh37: 22:26879635-26879635
GRCh38: 22:26483669-26483669
16 HPS4 NM_022081.6(HPS4):c.*197G>T SNV Uncertain significance 340999 rs550753111 GRCh37: 22:26849002-26849002
GRCh38: 22:26453036-26453036
17 HPS4 NM_022081.6(HPS4):c.*515G>C SNV Uncertain significance 340996 rs886057314 GRCh37: 22:26848684-26848684
GRCh38: 22:26452718-26452718
18 HPS4 NM_022081.6(HPS4):c.*1752C>G SNV Uncertain significance 340963 rs886057295 GRCh37: 22:26847447-26847447
GRCh38: 22:26451481-26451481
19 HPS4 NM_022081.6(HPS4):c.-42A>G SNV Uncertain significance 341025 rs369803062 GRCh37: 22:26877770-26877770
GRCh38: 22:26481804-26481804
20 HPS4 NM_022081.6(HPS4):c.922A>G (p.Thr308Ala) SNV Uncertain significance 341013 rs150057646 GRCh37: 22:26860674-26860674
GRCh38: 22:26464708-26464708
21 HPS4 NM_022081.6(HPS4):c.617C>T (p.Pro206Leu) SNV Uncertain significance 341019 rs746492833 GRCh37: 22:26864569-26864569
GRCh38: 22:26468603-26468603
22 HPS4 NM_022081.6(HPS4):c.*1359A>T SNV Uncertain significance 340969 rs886057298 GRCh37: 22:26847840-26847840
GRCh38: 22:26451874-26451874
23 HPS4 NM_022081.6(HPS4):c.*1594G>C SNV Uncertain significance 340966 rs886057296 GRCh37: 22:26847605-26847605
GRCh38: 22:26451639-26451639
24 HPS4 NM_022081.6(HPS4):c.1641C>T (p.Cys547=) SNV Uncertain significance 341005 rs199740072 GRCh37: 22:26859955-26859955
GRCh38: 22:26463989-26463989
25 HPS4 NM_022081.6(HPS4):c.1692C>T (p.Asp564=) SNV Uncertain significance 341003 rs759632995 GRCh37: 22:26859904-26859904
GRCh38: 22:26463938-26463938
26 HPS4 NM_001349896.1(HPS4):c.-543C>T SNV Uncertain significance 341037 rs886057325 GRCh37: 22:26879795-26879795
GRCh38: 22:26483829-26483829
27 HPS4 NM_022081.6(HPS4):c.1479T>A (p.Asp493Glu) SNV Uncertain significance 341008 rs777570870 GRCh37: 22:26860117-26860117
GRCh38: 22:26464151-26464151
28 HPS4 NM_022081.6(HPS4):c.*391G>A SNV Uncertain significance 340997 rs886057315 GRCh37: 22:26848808-26848808
GRCh38: 22:26452842-26452842
29 HPS4 NM_022081.6(HPS4):c.-116C>T SNV Uncertain significance 341026 rs886057321 GRCh37: 22:26877844-26877844
GRCh38: 22:26481878-26481878
30 HPS4 NM_022081.6(HPS4):c.*1227T>C SNV Uncertain significance 340991 rs7293228 GRCh37: 22:26847972-26847972
GRCh38: 22:26452006-26452006
31 HPS4 NM_022081.6(HPS4):c.81G>A (p.Lys27=) SNV Uncertain significance 341023 rs763708665 GRCh37: 22:26875282-26875282
GRCh38: 22:26479316-26479316
32 HPS4 NM_022081.6(HPS4):c.177A>C (p.Gly59=) SNV Uncertain significance 341022 rs886057320 GRCh37: 22:26873058-26873058
GRCh38: 22:26477092-26477092
33 HPS4 NM_022081.6(HPS4):c.1232G>A (p.Ser411Asn) SNV Uncertain significance 341009 rs201043011 GRCh37: 22:26860364-26860364
GRCh38: 22:26464398-26464398
34 HPS4 NM_022081.6(HPS4):c.1192A>C (p.Arg398=) SNV Uncertain significance 341010 rs375655372 GRCh37: 22:26860404-26860404
GRCh38: 22:26464438-26464438
35 HPS4 NM_022081.6(HPS4):c.877C>G (p.Leu293Val) SNV Uncertain significance 341014 rs886057317 GRCh37: 22:26860719-26860719
GRCh38: 22:26464753-26464753
36 HPS4 NM_022081.6(HPS4):c.1747G>A (p.Glu583Lys) SNV Uncertain significance 341001 rs145481980 GRCh37: 22:26854510-26854510
GRCh38: 22:26458544-26458544
37 HPS4 NM_022081.6(HPS4):c.958G>C (p.Asp320His) SNV Uncertain significance 341011 rs143965829 GRCh37: 22:26860638-26860638
GRCh38: 22:26464672-26464672
38 HPS4 NM_022081.6(HPS4):c.*1256C>T SNV Uncertain significance 340970 rs886057299 GRCh37: 22:26847943-26847943
GRCh38: 22:26451977-26451977
39 HPS4 NM_022081.6(HPS4):c.687G>A (p.Glu229=) SNV Uncertain significance 341018 rs758547221 GRCh37: 22:26862211-26862211
GRCh38: 22:26466245-26466245
40 HPS4 NM_022081.6(HPS4):c.1680G>A (p.Pro560=) SNV Uncertain significance 341004 rs527653764 GRCh37: 22:26859916-26859916
GRCh38: 22:26463950-26463950
41 HPS4 NM_022081.6(HPS4):c.608C>T (p.Thr203Ile) SNV Uncertain significance 341020 rs886057319 GRCh37: 22:26864578-26864578
GRCh38: 22:26468612-26468612
42 HPS4 NM_022081.6(HPS4):c.*369C>T SNV Uncertain significance 340998 rs886057316 GRCh37: 22:26848830-26848830
GRCh38: 22:26452864-26452864
43 HPS4 NM_022081.6(HPS4):c.-523G>T SNV Uncertain significance 341032 rs886057323 GRCh37: 22:26879684-26879684
GRCh38: 22:26483718-26483718
44 HPS4 NM_022081.6(HPS4):c.931C>A (p.Pro311Thr) SNV Uncertain significance 341012 rs140732502 GRCh37: 22:26860665-26860665
GRCh38: 22:26464699-26464699
45 HPS4 NM_022081.6(HPS4):c.1959T>C (p.Asn653=) SNV Uncertain significance 341000 rs202120615 GRCh37: 22:26849367-26849367
GRCh38: 22:26453401-26453401
46 HPS4 NM_152841.2(HPS4):c.691+15G>T SNV Uncertain significance 341017 rs762647750 GRCh37: 22:26862177-26862177
GRCh38: 22:26466211-26466211
47 HPS4 NM_001349896.1(HPS4):c.-531G>C SNV Uncertain significance 341036 rs886057324 GRCh37: 22:26879783-26879783
GRCh38: 22:26483817-26483817
48 HPS4 NM_022081.6(HPS4):c.*1237C>T SNV Uncertain significance 340981 rs886057305 GRCh37: 22:26847962-26847962
GRCh38: 22:26451996-26451996
49 HPS4 NM_022081.6(HPS4):c.*1691G>A SNV Uncertain significance 899752 GRCh37: 22:26847508-26847508
GRCh38: 22:26451542-26451542
50 HPS4 NM_022081.6(HPS4):c.*1207T>C SNV Uncertain significance 899804 GRCh37: 22:26847992-26847992
GRCh38: 22:26452026-26452026

Expression for Hermansky-Pudlak Syndrome 4

Search GEO for disease gene expression data for Hermansky-Pudlak Syndrome 4.

Pathways for Hermansky-Pudlak Syndrome 4

Pathways related to Hermansky-Pudlak Syndrome 4 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.75 HPS4 CCZ1B CCZ1

GO Terms for Hermansky-Pudlak Syndrome 4

Cellular components related to Hermansky-Pudlak Syndrome 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lysosomal membrane GO:0005765 9.33 HPS4 CCZ1B CCZ1
2 lysosome GO:0005764 9.26 SIDT1 HPS4 CCZ1B CCZ1
3 Mon1-Ccz1 complex GO:0035658 8.62 CCZ1B CCZ1

Biological processes related to Hermansky-Pudlak Syndrome 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 vesicle-mediated transport GO:0016192 9.13 HPS4 CCZ1B CCZ1
2 lysosome organization GO:0007040 8.62 LYST HPS4

Sources for Hermansky-Pudlak Syndrome 4

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
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44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
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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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