HPS1
MCID: HRM005
MIFTS: 50

Hermansky-Pudlak Syndrome 1 (HPS1)

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

Aliases & Classifications for Hermansky-Pudlak Syndrome 1

MalaCards integrated aliases for Hermansky-Pudlak Syndrome 1:

Name: Hermansky-Pudlak Syndrome 1 56 12 73 29 13 6 15
Albinism with Hemorrhagic Diathesis and Pigmented Reticuloendothelial Cells 56 71
Delta Storage Pool Disease 56 73
Hps1 56 73
Albinism with Hemorrhagic Diathesis and Pigmented Reticuloendothelial 73
Platelet Storage Pool Deficiency 71

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

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


HPO:

31
hermansky-pudlak syndrome 1:
Inheritance autosomal recessive inheritance heterogeneous


Classifications:



Summaries for Hermansky-Pudlak Syndrome 1

UniProtKB/Swiss-Prot : 73 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 hermansky-pudlak syndrome with pulmonary fibrosis and albinism, 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). The drugs Pirfenidone and Acetylcysteine have been mentioned in the context of this disorder. Affiliated tissues include lung, skin and bone, and related phenotypes are nystagmus and blindness

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 : 56 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

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

Diseases related to Hermansky-Pudlak Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 48)
# Related Disease Score Top Affiliating Genes
1 hermansky-pudlak syndrome with pulmonary fibrosis 32.9 HPS4 HPS1
2 albinism 32.6 SLC24A5 HPS4 HPS1
3 oculocutaneous albinism 32.0 SLC24A5 HPS4 HPS1 DTNBP1 AP3B1
4 storage pool platelet disease 30.4 HPS4 DTNBP1 AP3B1
5 hermansky-pudlak syndrome 4 30.1 LYST HPS4
6 albinism, oculocutaneous, type ii 30.0 SLC24A5 HPS4
7 chediak-higashi syndrome 29.6 PRODH LYST HPS1 AP3B1
8 hermansky-pudlak syndrome 29.4 LYST LOC100500719 HPS4 HPS1 ENSG00000188078 DTNBP1
9 isolated delta-storage pool disease 12.6
10 hermansky-pudlak syndrome 7 11.8
11 pulmonary fibrosis 11.8
12 hermansky-pudlak syndrome 5 11.6
13 hermansky-pudlak syndrome 10 11.2
14 nonspecific interstitial pneumonia 11.2
15 posttransplant acute limbic encephalitis 10.5
16 autosomal recessive disease 10.5
17 idiopathic interstitial pneumonia 10.4
18 hermansky-pudlak syndrome 2 10.3
19 hemorrhagic disease 10.3
20 albinism, oculocutaneous, type iv 10.2
21 hermansky-pudlak syndrome 3 10.2
22 hermansky-pudlak syndrome 6 10.2
23 schizophreniform disorder 10.2 PRODH DTNBP1
24 von willebrand's disease 10.1
25 blood platelet disease 10.1
26 schizotypal personality disorder 10.1 PRODH DTNBP1
27 acanthosis nigricans 10.1
28 lentigines 10.1
29 trichomegaly 10.1
30 hermansky-pudlak syndrome 8 10.1
31 hermansky-pudlak syndrome 9 10.1
32 melanoma 10.1
33 lung disease 10.1
34 bronchiectasis 10.1
35 factor viii deficiency 10.0
36 glanzmann thrombasthenia 10.0
37 hemophilia a 10.0
38 menkes disease 10.0
39 ehlers-danlos syndrome 10.0
40 thrombocytopenia 10.0
41 hemophilia 10.0
42 thrombasthenia 10.0
43 shaken baby syndrome 10.0
44 lymphoproliferative syndrome, x-linked, 2 9.8 LYST AP3B1
45 griscelli syndrome, type 1 9.7 LYST HPS4
46 griscelli syndrome, type 2 9.6 PRODH LYST AP3B1
47 griscelli syndrome 9.6 PRODH LYST AP3B1
48 lymphoproliferative syndrome, x-linked, 1 9.4 LYST AP3B1

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

Human phenotypes related to Hermansky-Pudlak Syndrome 1:

31 (show all 20)
# Description HPO Frequency HPO Source Accession
1 nystagmus 31 HP:0000639
2 blindness 31 HP:0000618
3 renal insufficiency 31 HP:0000083
4 pulmonary fibrosis 31 HP:0002206
5 abdominal pain 31 HP:0002027
6 gingival bleeding 31 HP:0000225
7 restrictive ventilatory defect 31 HP:0002091
8 melanocytic nevus 31 HP:0000995
9 cardiomyopathy 31 HP:0001638
10 epistaxis 31 HP:0000421
11 bruising susceptibility 31 HP:0000978
12 hematochezia 31 HP:0002573
13 prolonged bleeding time 31 HP:0003010
14 freckling 31 HP:0001480
15 ocular albinism 31 HP:0001107
16 severely reduced visual acuity 31 HP:0001141
17 albinism 31 HP:0001022
18 colitis 31 HP:0002583
19 freckles in sun-exposed areas 31 HP:0007603
20 abnormal hair morphology 31 HP:0001595

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
nystagmus
ocular albinism
lifelong reduced visual acuity, legal blindness to low vision
iris transillumination (variable)
macular translucency (variable)
more
Head And Neck Mouth:
gingival bleeding

Head And Neck Nose:
epistaxis

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

Cardiovascular Heart:
cardiomyopathy

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

UMLS symptoms related to Hermansky-Pudlak Syndrome 1:


abdominal pain

MGI Mouse Phenotypes related to Hermansky-Pudlak Syndrome 1:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.85 AP3B1 DGKB DTNBP1 FARP2 HPS1 HPS4
2 hearing/vestibular/ear MP:0005377 9.65 AP3B1 HPS1 HPS4 LYST SLC24A5
3 integument MP:0010771 9.56 AP3B1 DTNBP1 FARP2 HPS1 HPS4 LYST
4 pigmentation MP:0001186 9.17 AP3B1 DTNBP1 HPS1 HPS4 LYST PRODH

Drugs & Therapeutics for Hermansky-Pudlak Syndrome 1

Drugs for Hermansky-Pudlak Syndrome 1 (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
Losartan Approved Phase 1, Phase 2 114798-26-4 3961
4
Pravastatin Approved Phase 1, Phase 2 81093-37-0 54687
5
Erythromycin Approved, Investigational, Vet_approved Phase 1, Phase 2 114-07-8 12560 441411
6
Angiotensin II Approved, Investigational Phase 1, Phase 2 68521-88-0, 4474-91-3, 11128-99-7 172198
7 Anti-Bacterial Agents Phase 1, Phase 2
8 Anti-Arrhythmia Agents Phase 1, Phase 2
9 Analgesics Phase 1, Phase 2
10 Antihypertensive Agents Phase 1, Phase 2
11 Anticholesteremic Agents Phase 1, Phase 2
12 Gastrointestinal Agents Phase 1, Phase 2
13 Erythromycin Ethylsuccinate Phase 1, Phase 2
14 Hypolipidemic Agents Phase 1, Phase 2
15 Anti-Infective Agents Phase 1, Phase 2
16 Free Radical Scavengers Phase 1, Phase 2
17 Hormone Antagonists Phase 1, Phase 2
18 Erythromycin stearate Phase 1, Phase 2
19 Erythromycin Estolate Phase 1, Phase 2
20 N-monoacetylcystine Phase 1, Phase 2
21 Analgesics, Non-Narcotic Phase 1, Phase 2
22 Angiotensin II Type 1 Receptor Blockers Phase 1, Phase 2
23 Anti-Inflammatory Agents, Non-Steroidal Phase 1, Phase 2
24 Leukotriene Antagonists Phase 1, Phase 2
25 Anti-Inflammatory Agents Phase 1, Phase 2
26 Antioxidants Phase 1, Phase 2
27 Antiviral Agents Phase 1, Phase 2
28 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 1, Phase 2
29 Respiratory System Agents Phase 1, Phase 2
30 Giapreza Phase 1, Phase 2
31 Pharmaceutical Solutions Phase 1, Phase 2
32 Antirheumatic Agents Phase 1, Phase 2
33 Angiotensin Receptor Antagonists Phase 1, Phase 2
34 Protective Agents Phase 1, Phase 2
35 Lipid Regulating Agents Phase 1, Phase 2
36 Angiotensinogen Phase 1, Phase 2
37 Antidotes Phase 1, Phase 2
38 Expectorants Phase 1, Phase 2
39 Antimetabolites Phase 1, Phase 2
40 Hormones 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
3 Clinical and Basic Investigations Into Hermansky-Pudlak Syndrome Recruiting NCT00001456

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:

40
Lung, Skin, Bone, Testes, Cortex, Bone Marrow, B Cells

Publications for Hermansky-Pudlak Syndrome 1

Articles related to Hermansky-Pudlak Syndrome 1:

(show top 50) (show all 168)
# Title Authors PMID Year
1
Genetic defects and clinical characteristics of patients with a form of oculocutaneous albinism (Hermansky-Pudlak syndrome). 56 6
9562579 1998
2
Mutation analysis of patients with Hermansky-Pudlak syndrome: a frameshift hot spot in the HPS gene and apparent locus heterogeneity. 56 6
9497254 1998
3
Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles. 56 6
8896559 1996
4
Hermansky-Pudlak syndrome in a Swiss population. 56 6
8274781 1993
5
Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico. 61 56
11455388 2001
6
Heterozygous HPS1 mutations in a case of Hermansky-Pudlak syndrome with giant melanosomes. 61 6
10971344 2000
7
Hermansky-Pudlak Syndrome 61 6
20301464 2000
8
Dermatologic manifestations of Hermansky-Pudlak syndrome in patients with and without a 16-base pair duplication in the HPS1 gene. 61 56
10411151 1999
9
Correlation of visual acuity and ocular pigmentation with the 16-bp duplication in the HPS-1 gene of Hermansky-Pudlak syndrome, a form of albinism. 56
10768343 2000
10
Hermansky-Pudlak syndrome with colitis and pulmonary fibrosis. 56
10563678 1999
11
Multi-organellar disorders of pigmentation: tied up in traffic. 56
10422800 1999
12
Three new mutations in a gene causing Hermansky-Pudlak syndrome: clinical correlations. 6
9705234 1998
13
Mouse pale ear (ep) is homologous to human Hermansky-Pudlak syndrome and contains a rare 'AT-AC' intron. 56
9158155 1997
14
A gene causing Hermansky-Pudlak syndrome in a Puerto Rican population maps to chromosome 10q2. 56
7573033 1995
15
Linkage disequilibrium mapping of the gene for Hermansky-Pudlak syndrome to chromosome 10q23.1-q23.3. 56
8541858 1995
16
The protein CD63 is in platelet dense granules, is deficient in a patient with Hermansky-Pudlak syndrome, and appears identical to granulophysin. 56
7682577 1993
17
Unraveling the melanocyte. 56
8434579 1993
18
Hermansky-Pudlak syndrome with granulomatous colitis in children. 56
1674961 1991
19
Hermansky-Pudlak syndrome: correction of bleeding time by 1-desamino-8D-arginine vasopressin. 56
2916560 1989
20
Albinism with haemorrhagic diathesis: Hermansky-Pudlak syndrome. 56
4084482 1985
21
The Hermansky-Pudlak syndrome. Report of three cases and review of pathophysiology and management considerations. 56
3921802 1985
22
[Hermansky-Pudlak syndrome in a Valais village]. 56
6668200 1983
23
Hermansky-Pudlak syndrome with granulomatous colitis. 56
7350869 1980
24
Heterogeneity in storage pool deficiency: studies on granule-bound substances in 18 patients including variants deficient in alpha-granules, platelet factor 4, beta-thromboglobulin, and platelet-derived growth factor. 56
508939 1979
25
Hermansky-Pudlak syndrome. Pulmonary manifestations of a ceroid storage disorder. 56
443250 1979
26
Studies on a new variant of the Hermansky-Pudlak syndrome: qualitative, ultrastructural, and functional abnormalities of the platelet-dense bodies associated with a phospholipase A defect. 56
717398 1978
27
Familial pulmonary fibrosis associated with oculocutaneous albinism and platelet function defect. A new syndrome. 56
940919 1976
28
Albinism and abnormal platelet function. 56
5576453 1971
29
Studies of platelets in a variant of the Hermansky-Pudlak syndrome. 56
5090642 1971
30
[ALBINISM, HEMORRHAGIC DIATHESIS AND ABNORMAL PIGMENT CELLS IN THE BONE MARROW]. 56
14178495 1964
31
Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow: report of two cases with histochemical studies. 56
13618373 1959
32
Characterizing renal involvement in Hermansky-Pudlak Syndrome in a zebrafish model. 61
31776394 2019
33
Molecular genetic study of 59 Chinese Oculocutaneous albinism families. 61
31229681 2019
34
Novel genetic variant of HPS1 gene in Hermansky-Pudlak syndrome with fulminant progression of pulmonary fibrosis: a case report. 61
31619213 2019
35
Hexa-Longin domain scaffolds for inter-Rab signalling. 61
31562761 2019
36
Modeling of Fibrotic Lung Disease Using 3D Organoids Derived from Human Pluripotent Stem Cells. 61
31216486 2019
37
Instability of BLOC-2 and BLOC-3 in Chinese patients with Hermansky-Pudlak syndrome. 61
30387913 2019
38
Precise therapeutic gene correction by a simple nuclease-induced double-stranded break. 61
30944467 2019
39
Different functions of biogenesis of lysosomal organelles complex 3 subunit 1 (Hps1) and adaptor-related protein complex 3, beta 1 subunit (Ap3b1) genes on spermatogenesis and male fertility. 61
30786955 2019
40
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
41
Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising. 61
30791930 2019
42
Crohn's-like acute severe colitis associated with Hermansky-Pudlak syndrome: A case report. 61
30833808 2019
43
Plasma lipidomic profiling in murine mutants of Hermansky-Pudlak syndrome reveals differential changes in pro- and anti-atherosclerotic lipids. 61
30710063 2019
44
Infantile-onset inflammatory bowel disease in a patient with Hermansky-Pudlak syndrome: a case report. 61
30634918 2019
45
Severe bleeding with subclinical oculocutaneous albinism in a patient with a novel HPS6 missense variant. 61
30369044 2018
46
Hermansky-Pudlak syndrome with a novel genetic variant in HPS1 and subsequent accelerated pulmonary fibrosis: significance for phenocopy diseases. 61
29941477 2018
47
Use of Targeted High-Throughput Sequencing for Genetic Classification of Patients with Bleeding Diathesis and Suspected Platelet Disorder. 61
31249973 2018
48
Systematic review of drug effects in humans and models with surfactant-processing disease. 61
29997245 2018
49
Abnormal differentiation of B cells and megakaryocytes in patients with Roifman syndrome. 61
29391254 2018
50
Gene-edited MLE-15 Cells as a Model for the Hermansky-Pudlak Syndromes. 61
29190429 2018

Variations for Hermansky-Pudlak Syndrome 1

ClinVar genetic disease variations for Hermansky-Pudlak Syndrome 1:

6 (show all 37) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DTNBP1 NM_183040.2(DTNBP1):c.177G>A (p.Trp59Ter)SNV Pathogenic 162098 rs727502866 6:15638020-15638020 6:15637789-15637789
2 HPS1 NM_000195.5(HPS1):c.1472_1487dup (p.His497fs)duplication Pathogenic 5277 rs281865163 10:100183554-100183555 10:98423797-98423798
3 HPS1 NM_000195.5(HPS1):c.972del (p.Met325fs)deletion Pathogenic 5280 rs281865082 10:100186987-100186987 10:98427230-98427230
4 HPS1 NM_000195.5(HPS1):c.397G>T (p.Glu133Ter)SNV Pathogenic 5281 rs121908386 10:100195030-100195030 10:98435273-98435273
5 HPS1 NM_000195.5(HPS1):c.962dup (p.Thr322fs)duplication Pathogenic 5282 rs281865081 10:100186996-100186997 10:98427239-98427240
6 HPS1 NM_000195.5(HPS1):c.398+5G>ASNV Pathogenic 5283 rs281865077 10:100195024-100195024 10:98435267-98435267
7 HPS1 NM_000195.5(HPS1):c.716T>C (p.Leu239Pro)SNV Pathogenic 21107 rs281865080 10:100190380-100190380 10:98430623-98430623
8 HPS1 NM_000195.5(HPS1):c.1323dup (p.Gln442fs)duplication Pathogenic 21092 rs281865085 10:100185309-100185310 10:98425552-98425553
9 HPS1 NM_000195.5(HPS1):c.1375del (p.Ser459fs)deletion Pathogenic 21093 rs281865086 10:100184092-100184092 10:98424335-98424335
10 HPS1 NM_000195.5(HPS1):c.163_165ATC[1] (p.Ile56del)short repeat Pathogenic 21095 rs281865073 10:100195479-100195481 10:98435722-98435724
11 HPS1 NM_000195.5(HPS1):c.1691del (p.Lys564fs)deletion Pathogenic 21096 rs281865087 10:100182178-100182178 10:98422421-98422421
12 HPS1 NM_000195.5(HPS1):c.2003T>C (p.Leu668Pro)SNV Pathogenic 21101 rs281865090 10:100177421-100177421 10:98417664-98417664
13 HPS1 NM_000195.5(HPS1):c.288del (p.Asp97fs)deletion Pathogenic 21102 rs281865074 10:100195139-100195139 10:98435382-98435382
14 HPS1 NM_000195.5(HPS1):c.355del (p.His119fs)deletion Pathogenic 21103 rs281865075 10:100195072-100195072 10:98435315-98435315
15 HPS1 NM_000195.5(HPS1):c.391C>T (p.Arg131Ter)SNV Pathogenic 21104 rs281865076 10:100195036-100195036 10:98435279-98435279
16 HPS1 NM_000195.5(HPS1):c.418del (p.Ala140fs)deletion Pathogenic 21105 rs281865078 10:100193829-100193829 10:98434072-98434072
17 HPS1 NM_000195.5(HPS1):c.532dup (p.Gln178fs)duplication Pathogenic 21106 rs281865079 10:100191023-100191024 10:98431266-98431267
18 HPS1 NM_000195.5(HPS1):c.932del (p.Ser311fs)deletion Pathogenic 21109 rs281865091 10:100189335-100189335 10:98429578-98429578
19 HPS1 NM_000195.5(HPS1):c.962del (p.Gly321fs)deletion Pathogenic 21110 rs281865081 10:100186997-100186997 10:98427240-98427240
20 HPS1 NM_000195.5(HPS1):c.974_975insC (p.Met325fs)insertion Pathogenic 21113 rs281865092 10:100186984-100186985 10:98427227-98427228
21 HPS1 NM_000195.5(HPS1):c.233_242del (p.Asn78fs)deletion Pathogenic 435451 rs773323079 10:100195405-100195414 10:98435648-98435657
22 HPS1 NM_000195.5(HPS1):c.1807C>T (p.Gln603Ter)SNV Pathogenic 627613 10:100179852-100179852 10:98420095-98420095
23 HPS1 NM_000195.5(HPS1):c.187G>T (p.Glu63Ter)SNV Pathogenic 627612 10:100195460-100195460 10:98435703-98435703
24 HPS1 NM_000195.5(HPS1):c.1749G>A (p.Trp583Ter)SNV Pathogenic 21098 rs281865089 10:100179910-100179910 10:98420153-98420153
25 HPS1 NM_000195.5(HPS1):c.1657C>T (p.Gln553Ter)SNV Pathogenic 694730 10:100182212-100182212 10:98422455-98422455
26 HPS1 NM_000195.5(HPS1):c.1189del (p.Gln397fs)deletion Pathogenic/Likely pathogenic 21091 rs281865084 10:100185444-100185444 10:98425687-98425687
27 HPS1 NM_000195.5(HPS1):c.972dup (p.Met325fs)duplication Pathogenic/Likely pathogenic 5278 rs281865082 10:100186986-100186987 10:98427229-98427230
28 HPS1 NM_000195.5(HPS1):c.1996G>T (p.Glu666Ter)SNV Likely pathogenic 5279 rs121908385 10:100177428-100177428 10:98417671-98417671
29 HPS1 NM_000195.5(HPS1):c.1744-2A>CSNV Likely pathogenic 21097 rs281865088 10:100179917-100179917 10:98420160-98420160
30 HPS1 NM_000195.5(HPS1):c.399-14G>ASNV Likely pathogenic 627614 10:100193862-100193862 10:98434105-98434105
31 HPS1 NM_000195.5(HPS1):c.507+2T>GSNV Likely pathogenic 694728 10:100193738-100193738 10:98433981-98433981
32 HPS1 NM_000195.5(HPS1):c.198G>A (p.Ser66=)SNV Conflicting interpretations of pathogenicity 502551 rs115265574 10:100195449-100195449 10:98435692-98435692
33 HPS1 NM_000195.5(HPS1):c.54A>G (p.Thr18=)SNV Uncertain significance 619286 rs531947687 10:100202944-100202944 10:98443187-98443187
34 HPS1 NM_000195.5(HPS1):c.1888G>A (p.Val630Ile)SNV Likely benign 21100 rs139061260 10:100177984-100177984 10:98418227-98418227
35 HPS1 NM_000195.5(HPS1):c.1808A>G (p.Gln603Arg)SNV Benign/Likely benign 21099 rs2296436 10:100179851-100179851 10:98420094-98420094
36 HPS1 NM_000195.5(HPS1):c.1472C>G (p.Pro491Arg)SNV Benign/Likely benign 21094 rs2296434 10:100183570-100183570 10:98423813-98423813
37 HPS1 NM_000195.5(HPS1):c.847G>T (p.Gly283Trp)SNV Benign/Likely benign 21108 rs11592273 10:100189568-100189568 10:98429811-98429811

Expression for Hermansky-Pudlak Syndrome 1

Search GEO for disease gene expression data for Hermansky-Pudlak Syndrome 1.

Pathways for Hermansky-Pudlak Syndrome 1

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 microtubule cytoskeleton GO:0015630 9.13 MARK4 LYST DTNBP1
2 BLOC-3 complex GO:0031085 8.62 HPS4 HPS1

Biological processes related to Hermansky-Pudlak Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 blood coagulation GO:0007596 9.61 HPS4 DTNBP1 AP3B1
2 anterograde axonal transport GO:0008089 9.4 DTNBP1 AP3B1
3 melanocyte differentiation GO:0030318 9.37 SLC24A5 HPS4
4 anterograde synaptic vesicle transport GO:0048490 9.32 DTNBP1 AP3B1
5 organelle organization GO:0006996 9.26 HPS4 DTNBP1
6 melanosome assembly GO:1903232 9.16 HPS4 HPS1
7 lysosome organization GO:0007040 9.13 LYST HPS4 HPS1
8 melanosome organization GO:0032438 8.8 LYST DTNBP1 AP3B1

Sources for Hermansky-Pudlak Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
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50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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