HPS1
MCID: HRM005
MIFTS: 55

Hermansky-Pudlak Syndrome 1 (HPS1)

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 1

MalaCards integrated aliases for Hermansky-Pudlak Syndrome 1:

Name: Hermansky-Pudlak Syndrome 1 57 12 72 29 13 6 15
Albinism with Hemorrhagic Diathesis and Pigmented Reticuloendothelial Cells 57 6 70
Delta Storage Pool Disease 57 72
Hps1 57 72
Albinism with Hemorrhagic Diathesis and Pigmented Reticuloendothelial 72
Platelet Storage Pool Deficiency 70

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
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 : 72 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 pulmonary fibrosis, 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, bone marrow 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® : 57 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) (Updated 05-Apr-2021)

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
Hermansky-Pudlak Syndrome 11

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

(show top 50) (show all 54)
# Related Disease Score Top Affiliating Genes
1 hermansky-pudlak syndrome with pulmonary fibrosis 32.1 HPS4 HPS1 DTNBP1
2 pulmonary fibrosis 31.9 HPS6 HPS5 HPS4 HPS3 HPS1 DTNBP1
3 hermansky-pudlak syndrome 5 31.8 HPS6 HPS5
4 hermansky-pudlak syndrome 11 31.7 EEF1E1-BLOC1S5 BLOC1S5-TXNDC5 BLOC1S5
5 oculocutaneous albinism 31.6 HPS6 HPS5 HPS4 HPS3 HPS1 DTNBP1
6 hermansky-pudlak syndrome 2 30.6 HPS3 AP3B1
7 chediak-higashi syndrome 30.6 PRODH HPS1 AP3B1
8 hermansky-pudlak syndrome 6 30.4 HPS6 HPS5
9 albinism, oculocutaneous, type ii 30.3 HPS6 HPS5 HPS4 HPS3
10 albinism, oculocutaneous, type iv 30.3 HPS6 HPS5 HPS4 HPS3
11 hermansky-pudlak syndrome 3 30.3 HPS6 HPS5 HPS3 CP
12 hermansky-pudlak syndrome 9 30.2 HPS4 BLOC1S6
13 storage pool platelet disease 29.9 HPS6 HPS5 HPS4 HPS3 DTNBP1 BLOC1S6
14 hermansky-pudlak syndrome 29.8 LOC101927278 LOC100500719 HPS6 HPS5 HPS4 HPS3
15 hermansky-pudlak syndrome 7 11.7
16 isolated delta-storage pool disease 11.4
17 albinism 11.2
18 hermansky-pudlak syndrome 10 10.9
19 melanoma in congenital melanocytic nevus 10.9
20 nonspecific interstitial pneumonia 10.9
21 posttransplant acute limbic encephalitis 10.4
22 autosomal recessive disease 10.3
23 ocular albinism 10.2 HPS6 HPS5 HPS4
24 exotropia 10.2 HPS6 HPS5 HPS3
25 von willebrand's disease 10.2
26 blood platelet disease 10.2
27 schizophreniform disorder 10.2 PRODH DTNBP1
28 griscelli syndrome, type 1 10.2 HPS6 HPS5 HPS4 BLOC1S6
29 hermansky-pudlak syndrome without pulmonary fibrosis 10.2 HPS6 HPS5 HPS3 CP
30 hermansky-pudlak syndrome 4 10.1
31 hemorrhagic disease 10.1
32 schizotypal personality disorder 10.1 PRODH DTNBP1
33 albinism, oculocutaneous, type iii 10.1 HPS6 HPS5 HPS4 HPS3 BLOC1S6
34 factor viii deficiency 10.1
35 glanzmann thrombasthenia 10.1
36 hemophilia a 10.1
37 menkes disease 10.1
38 ehlers-danlos syndrome 10.1
39 thrombocytopenia 10.1
40 hemophilia 10.1
41 thrombasthenia 10.1
42 shaken baby syndrome 10.1
43 griscelli syndrome 10.0 PRODH HPS6 HPS4 HPS3 BLOC1S6 AP3B1
44 amme complex 10.0 PRODH BLOC1S5
45 fibrosis of extraocular muscles, congenital, 1 10.0
46 acanthosis nigricans 9.8
47 lentigines 9.8
48 trichomegaly 9.8
49 vitiligo-associated multiple autoimmune disease susceptibility 6 9.8
50 vitiligo-associated multiple autoimmune disease susceptibility 1 9.8

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 melanocytic nevus 31 HP:0000995
5 pulmonary fibrosis 31 HP:0002206
6 abdominal pain 31 HP:0002027
7 epistaxis 31 HP:0000421
8 gingival bleeding 31 HP:0000225
9 bruising susceptibility 31 HP:0000978
10 hematochezia 31 HP:0002573
11 prolonged bleeding time 31 HP:0003010
12 freckling 31 HP:0001480
13 ocular albinism 31 HP:0001107
14 cardiomyopathy 31 HP:0001638
15 restrictive ventilatory defect 31 HP:0002091
16 colitis 31 HP:0002583
17 severely reduced visual acuity 31 HP:0001141
18 albinism 31 HP:0001022
19 freckles in sun-exposed areas 31 HP:0007603
20 abnormal hair morphology 31 HP:0001595

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 Nose:
epistaxis

Hematology:
prolonged bleeding time
easy bruisability
bleeding diathesis
absent dense bodies in platelets
normal platelet counts
more
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

Head And Neck Mouth:
gingival bleeding

Cardiovascular Heart:
cardiomyopathy

Genitourinary Kidneys:
renal failure

Skin Nails Hair Hair:
hair color white to brown

Clinical features from OMIM®:

203300 (Updated 05-Apr-2021)

UMLS symptoms related to Hermansky-Pudlak Syndrome 1:


abdominal pain

MGI Mouse Phenotypes related to Hermansky-Pudlak Syndrome 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.06 AP3B1 BLOC1S5 BLOC1S6 CP DTNBP1 HPS1
2 integument MP:0010771 9.96 AP3B1 BLOC1S5 BLOC1S6 DTNBP1 HPS1 HPS3
3 hearing/vestibular/ear MP:0005377 9.91 AP3B1 BLOC1S5 BLOC1S6 HPS1 HPS4 HPS5
4 pigmentation MP:0001186 9.9 AP3B1 BLOC1S5 BLOC1S6 CP DTNBP1 HPS1
5 renal/urinary system MP:0005367 9.56 AP3B1 BLOC1S5 BLOC1S6 DTNBP1 HPS1 HPS4
6 vision/eye MP:0005391 9.32 AP3B1 BLOC1S5 BLOC1S6 CP DTNBP1 HPS1

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
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 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, Bone Marrow, Bone, Cortex, B Cells, Endothelial

Publications for Hermansky-Pudlak Syndrome 1

Articles related to Hermansky-Pudlak Syndrome 1:

(show top 50) (show all 184)
# Title Authors PMID Year
1
Genetic defects and clinical characteristics of patients with a form of oculocutaneous albinism (Hermansky-Pudlak syndrome). 57 6
9562579 1998
2
Mutation analysis of patients with Hermansky-Pudlak syndrome: a frameshift hot spot in the HPS gene and apparent locus heterogeneity. 6 57
9497254 1998
3
Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles. 6 57
8896559 1996
4
Hermansky-Pudlak syndrome in a Swiss population. 6 57
8274781 1993
5
Instability of BLOC-2 and BLOC-3 in Chinese patients with Hermansky-Pudlak syndrome. 61 6
30387913 2019
6
NGS-based 100-gene panel of hypopigmentation identifies mutations in Chinese Hermansky-Pudlak syndrome patients. 6 61
27593200 2016
7
Super-resolution microscopy as a potential approach to diagnosis of platelet granule disorders. 6 61
26806224 2016
8
Novel mutations in the HPS1 gene among Puerto Rican patients. 61 6
20662851 2011
9
Compound heterozygous mutations in 2 siblings with Hermansky-Pudlak syndrome type 1 (HPS1). 6 61
20514622 2010
10
The first case report of a Chinese Hermansky-Pudlak syndrome patient with a novel mutation on HPS1 gene. 6 61
19665357 2009
11
High frequency of Hermansky-Pudlak syndrome type 1 (HPS1) among Japanese albinism patients and functional analysis of HPS1 mutant protein. 61 6
16185271 2005
12
Detection of hemizygosity in Hermansky-Pudlak syndrome by quantitative real-time PCR. 61 6
15952982 2005
13
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
14
Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico. 61 57
11455388 2001
15
Heterozygous HPS1 mutations in a case of Hermansky-Pudlak syndrome with giant melanosomes. 6 61
10971344 2000
16
Dermatologic manifestations of Hermansky-Pudlak syndrome in patients with and without a 16-base pair duplication in the HPS1 gene. 61 57
10411151 1999
17
Whole-genome sequencing of patients with rare diseases in a national health system. 6
32581362 2020
18
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 6
31064749 2019
19
Rapid Resolution of Blended or Composite Multigenic Disease in Infants by Whole-Exome Sequencing. 6
28081892 2017
20
Identification and clinical characterization of Hermansky-Pudlak syndrome alleles in the Pakistani population. 6
26575419 2016
21
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 6
25525159 2015
22
Platelet alpha granules in BLOC-2 and BLOC-3 subtypes of Hermansky-Pudlak syndrome. 6
17365864 2007
23
Molecular, ultrastructural and functional characterization of a Spanish family with Hermansky-Pudlak syndrome: role of insC974 in platelet function and clinical relevance. 6
14510955 2003
24
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. 57
10768343 2000
25
Hermansky-Pudlak syndrome with colitis and pulmonary fibrosis. 57
10563678 1999
26
Multi-organellar disorders of pigmentation: tied up in traffic. 57
10422800 1999
27
Three new mutations in a gene causing Hermansky-Pudlak syndrome: clinical correlations. 6
9705234 1998
28
Mouse pale ear (ep) is homologous to human Hermansky-Pudlak syndrome and contains a rare 'AT-AC' intron. 57
9158155 1997
29
A gene causing Hermansky-Pudlak syndrome in a Puerto Rican population maps to chromosome 10q2. 57
7573033 1995
30
Linkage disequilibrium mapping of the gene for Hermansky-Pudlak syndrome to chromosome 10q23.1-q23.3. 57
8541858 1995
31
The protein CD63 is in platelet dense granules, is deficient in a patient with Hermansky-Pudlak syndrome, and appears identical to granulophysin. 57
7682577 1993
32
Unraveling the melanocyte. 57
8434579 1993
33
Hermansky-Pudlak syndrome with granulomatous colitis in children. 57
1674961 1991
34
Hermansky-Pudlak syndrome: correction of bleeding time by 1-desamino-8D-arginine vasopressin. 57
2916560 1989
35
Albinism with haemorrhagic diathesis: Hermansky-Pudlak syndrome. 57
4084482 1985
36
The Hermansky-Pudlak syndrome. Report of three cases and review of pathophysiology and management considerations. 57
3921802 1985
37
[Hermansky-Pudlak syndrome in a Valais village]. 57
6668200 1983
38
Hermansky-Pudlak syndrome with granulomatous colitis. 57
7350869 1980
39
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. 57
508939 1979
40
Hermansky-Pudlak syndrome. Pulmonary manifestations of a ceroid storage disorder. 57
443250 1979
41
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. 57
717398 1978
42
Familial pulmonary fibrosis associated with oculocutaneous albinism and platelet function defect. A new syndrome. 57
940919 1976
43
Albinism and abnormal platelet function. 57
5576453 1971
44
Studies of platelets in a variant of the Hermansky-Pudlak syndrome. 57
5090642 1971
45
[ALBINISM, HEMORRHAGIC DIATHESIS AND ABNORMAL PIGMENT CELLS IN THE BONE MARROW]. 57
14178495 1964
46
Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow: report of two cases with histochemical studies. 57
13618373 1959
47
Prospective Study of the Phenotypic and Mutational Spectrum of Ocular Albinism and Oculocutaneous Albinism. 61
33808351 2021
48
Current landscape of Oculocutaneous Albinism in Japan. 61
32969595 2021
49
Genetic analysis and prenatal diagnosis of 20 Chinese families with oculocutaneous albinism. 61
33124154 2021
50
Genetic variants and mutational spectrum of Chinese Hermansky-Pudlak syndrome patients. 61
32725903 2021

Variations for Hermansky-Pudlak Syndrome 1

ClinVar genetic disease variations for Hermansky-Pudlak Syndrome 1:

6 (show top 50) (show all 395)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 BLOC1S5 GRCh37/hg19 6p24.3(chr6:8023117-8042179)x0 copy number loss Pathogenic 813287 GRCh37: 6:8023117-8042179
GRCh38:
2 HPS1 NM_000195.5(HPS1):c.1996G>T (p.Glu666Ter) SNV Pathogenic 5279 rs121908385 GRCh37: 10:100177428-100177428
GRCh38: 10:98417671-98417671
3 HPS1 NM_000195.5(HPS1):c.972del (p.Met325fs) Deletion Pathogenic 5280 rs281865082 GRCh37: 10:100186987-100186987
GRCh38: 10:98427230-98427230
4 HPS1 NM_000195.5(HPS1):c.397G>T (p.Glu133Ter) SNV Pathogenic 5281 rs121908386 GRCh37: 10:100195030-100195030
GRCh38: 10:98435273-98435273
5 HPS1 NM_000195.5(HPS1):c.962dup (p.Thr322fs) Duplication Pathogenic 5282 rs281865081 GRCh37: 10:100186996-100186997
GRCh38: 10:98427239-98427240
6 HPS1 NM_000195.5(HPS1):c.398+5G>A SNV Pathogenic 5283 rs281865077 GRCh37: 10:100195024-100195024
GRCh38: 10:98435267-98435267
7 DTNBP1 NM_032122.4(DTNBP1):c.1015_1016AG[1] (p.Glu340fs) Microsatellite Pathogenic 626951 rs752074481 GRCh37: 6:15523242-15523245
GRCh38: 6:15523011-15523014
8 HPS1 NM_000195.5(HPS1):c.1323dup (p.Gln442fs) Duplication Pathogenic 21092 rs281865085 GRCh37: 10:100185309-100185310
GRCh38: 10:98425552-98425553
9 HPS1 NM_000195.5(HPS1):c.163_165ATC[1] (p.Ile56del) Microsatellite Pathogenic 21095 rs281865073 GRCh37: 10:100195479-100195481
GRCh38: 10:98435722-98435724
10 HPS1 NM_000195.5(HPS1):c.1691del (p.Lys564fs) Deletion Pathogenic 21096 rs281865087 GRCh37: 10:100182178-100182178
GRCh38: 10:98422421-98422421
11 HPS1 NM_000195.5(HPS1):c.1744-2A>C SNV Pathogenic 21097 rs281865088 GRCh37: 10:100179917-100179917
GRCh38: 10:98420160-98420160
12 HPS1 NM_000195.5(HPS1):c.1749G>A (p.Trp583Ter) SNV Pathogenic 21098 rs281865089 GRCh37: 10:100179910-100179910
GRCh38: 10:98420153-98420153
13 HPS1 NM_000195.5(HPS1):c.1375del (p.Ser459fs) Deletion Pathogenic 21093 rs281865086 GRCh37: 10:100184092-100184092
GRCh38: 10:98424335-98424335
14 HPS1 NM_000195.5(HPS1):c.2003T>C (p.Leu668Pro) SNV Pathogenic 21101 rs281865090 GRCh37: 10:100177421-100177421
GRCh38: 10:98417664-98417664
15 HPS1 NM_000195.5(HPS1):c.288del (p.Asp97fs) Deletion Pathogenic 21102 rs281865074 GRCh37: 10:100195139-100195139
GRCh38: 10:98435382-98435382
16 HPS1 NM_000195.5(HPS1):c.355del (p.His119fs) Deletion Pathogenic 21103 rs281865075 GRCh37: 10:100195072-100195072
GRCh38: 10:98435315-98435315
17 HPS1 NM_000195.5(HPS1):c.418del (p.Ala140fs) Deletion Pathogenic 21105 rs281865078 GRCh37: 10:100193829-100193829
GRCh38: 10:98434072-98434072
18 HPS1 NM_000195.5(HPS1):c.532dup (p.Gln178fs) Duplication Pathogenic 21106 rs281865079 GRCh37: 10:100191023-100191024
GRCh38: 10:98431266-98431267
19 HPS1 NM_000195.5(HPS1):c.716T>C (p.Leu239Pro) SNV Pathogenic 21107 rs281865080 GRCh37: 10:100190380-100190380
GRCh38: 10:98430623-98430623
20 HPS1 NM_000195.5(HPS1):c.932del (p.Ser311fs) Deletion Pathogenic 21109 rs281865091 GRCh37: 10:100189335-100189335
GRCh38: 10:98429578-98429578
21 HPS1 NM_000195.5(HPS1):c.962del (p.Gly321fs) Deletion Pathogenic 21110 rs281865081 GRCh37: 10:100186997-100186997
GRCh38: 10:98427240-98427240
22 HPS1 NM_000195.5(HPS1):c.974_975insC (p.Met325fs) Insertion Pathogenic 21113 rs281865092 GRCh37: 10:100186984-100186985
GRCh38: 10:98427227-98427228
23 HPS1 NM_000195.5(HPS1):c.233_242del (p.Asn78fs) Deletion Pathogenic 435451 rs773323079 GRCh37: 10:100195405-100195414
GRCh38: 10:98435648-98435657
24 HPS1 NM_000195.5(HPS1):c.187G>T (p.Glu63Ter) SNV Pathogenic 627612 rs1591120765 GRCh37: 10:100195460-100195460
GRCh38: 10:98435703-98435703
25 HPS1 NM_000195.5(HPS1):c.1807C>T (p.Gln603Ter) SNV Pathogenic 627613 rs886077189 GRCh37: 10:100179852-100179852
GRCh38: 10:98420095-98420095
26 HPS6 NM_024747.5(HPS6):c.155del (p.Val52fs) Deletion Pathogenic 627011 rs1590262450 GRCh37: 10:103825386-103825386
GRCh38: 10:102065629-102065629
27 HPS1 NM_000195.5(HPS1):c.1189del (p.Gln397fs) Deletion Pathogenic 21091 rs281865084 GRCh37: 10:100185444-100185444
GRCh38: 10:98425687-98425687
28 HPS6 NM_024747.5(HPS6):c.238dup (p.Asp80fs) Duplication Pathogenic 208586 rs281865108 GRCh37: 10:103825467-103825468
GRCh38: 10:102065710-102065711
29 HPS3 NM_032383.5(HPS3):c.15C>G (p.Tyr5Ter) SNV Pathogenic 627248 rs753185316 GRCh37: 3:148847525-148847525
GRCh38: 3:149129738-149129738
30 HPS6 NM_024747.5(HPS6):c.1624del (p.Asp542fs) Deletion Pathogenic 627255 rs1590263807 GRCh37: 10:103826855-103826855
GRCh38: 10:102067098-102067098
31 HPS1 NM_000195.5(HPS1):c.1657C>T (p.Gln553Ter) SNV Pathogenic 694730 rs1591031929 GRCh37: 10:100182212-100182212
GRCh38: 10:98422455-98422455
32 HPS5 NM_007216.4(HPS5):c.201del (p.Gln67fs) Deletion Pathogenic 627333 rs755827664 GRCh37: 11:18330561-18330561
GRCh38: 11:18309014-18309014
33 BLOC1S5-TXNDC5 , EEF1E1-BLOC1S5 , BLOC1S5 NM_201280.3(BLOC1S5):c.345del (p.Val116fs) Deletion Pathogenic 870631 GRCh37: 6:8026639-8026639
GRCh38: 6:8026406-8026406
34 HPS3 , CP NM_032383.5(HPS3):c.2814dup (p.Leu939fs) Duplication Pathogenic 627049 rs1576708708 GRCh37: 3:148885691-148885692
GRCh38: 3:149167904-149167905
35 HPS3 NM_032383.5(HPS3):c.1838C>G (p.Ser613Ter) SNV Pathogenic 660187 rs755083879 GRCh37: 3:148876599-148876599
GRCh38: 3:149158812-149158812
36 HPS1 NM_000195.5(HPS1):c.972del (p.Met325fs) Deletion Pathogenic 5280 rs281865082 GRCh37: 10:100186987-100186987
GRCh38: 10:98427230-98427230
37 HPS1 NM_000195.5(HPS1):c.355del (p.His119fs) Deletion Pathogenic 21103 rs281865075 GRCh37: 10:100195072-100195072
GRCh38: 10:98435315-98435315
38 HPS1 NM_000195.5(HPS1):c.517C>T (p.Arg173Ter) SNV Pathogenic 937794 GRCh37: 10:100191039-100191039
GRCh38: 10:98431282-98431282
39 HPS5 NM_007216.4(HPS5):c.2637_2640del (p.Cys879fs) Deletion Pathogenic 280536 rs886041723 GRCh37: 11:18305418-18305421
GRCh38: 11:18283871-18283874
40 HPS6 NM_024747.5(HPS6):c.283del (p.Val95fs) Deletion Pathogenic 595731 rs1564899012 GRCh37: 10:103825513-103825513
GRCh38: 10:102065756-102065756
41 HPS1 NM_000195.5(HPS1):c.1472_1487dup (p.His497fs) Duplication Pathogenic 5277 rs281865163 GRCh37: 10:100183554-100183555
GRCh38: 10:98423797-98423798
42 HPS1 NM_000195.5(HPS1):c.972dup (p.Met325fs) Duplication Pathogenic 5278 rs281865082 GRCh37: 10:100186986-100186987
GRCh38: 10:98427229-98427230
43 HPS1 NM_000195.5(HPS1):c.391C>T (p.Arg131Ter) SNV Pathogenic 21104 rs281865076 GRCh37: 10:100195036-100195036
GRCh38: 10:98435279-98435279
44 DTNBP1 NM_032122.5(DTNBP1):c.177G>A (p.Trp59Ter) SNV Pathogenic 162098 rs727502866 GRCh37: 6:15638020-15638020
GRCh38: 6:15637789-15637789
45 HPS1 NM_000195.5(HPS1):c.1472_1487dup (p.His497fs) Duplication Pathogenic 5277 rs281865163 GRCh37: 10:100183554-100183555
GRCh38: 10:98423797-98423798
46 HPS3 NM_032383.5(HPS3):c.1163+1G>A SNV Pathogenic 4609 rs201227603 GRCh37: 3:148863334-148863334
GRCh38: 3:149145547-149145547
47 HPS1 NM_000195.5(HPS1):c.1473dup (p.Ser492fs) Duplication Pathogenic 1030663 GRCh37: 10:100183568-100183569
GRCh38: 10:98423811-98423812
48 HPS1 NM_000195.5(HPS1):c.972dup (p.Met325fs) Duplication Pathogenic/Likely pathogenic 5278 rs281865082 GRCh37: 10:100186986-100186987
GRCh38: 10:98427229-98427230
49 HPS1 NM_000195.5(HPS1):c.1189del (p.Gln397fs) Deletion Pathogenic/Likely pathogenic 21091 rs281865084 GRCh37: 10:100185444-100185444
GRCh38: 10:98425687-98425687
50 HPS4 NM_022081.6(HPS4):c.1132C>T (p.Gln378Ter) SNV Likely pathogenic 228266 rs369053765 GRCh37: 22:26860464-26860464
GRCh38: 22:26464498-26464498

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 cytoplasmic vesicle GO:0031410 9.8 SEC31B HPS4 HPS1 DTNBP1 AP3B1
2 lysosomal membrane GO:0005765 9.67 HPS6 HPS4 CP AP3B1
3 transport vesicle GO:0030133 9.5 BLOC1S6 BLOC1S5-TXNDC5 BLOC1S5
4 axon cytoplasm GO:1904115 9.46 DTNBP1 BLOC1S6 BLOC1S5 AP3B1
5 BLOC-3 complex GO:0031085 9.26 HPS4 HPS1
6 BLOC-2 complex GO:0031084 9.13 HPS6 HPS5 HPS3
7 BLOC-1 complex GO:0031083 8.92 DTNBP1 BLOC1S6 BLOC1S5-TXNDC5 BLOC1S5

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 vesicle-mediated transport GO:0016192 9.83 SEC31B HPS4 HPS1 AP3B1
2 blood coagulation GO:0007596 9.8 HPS6 HPS5 HPS4 DTNBP1 BLOC1S6 AP3B1
3 neuron projection development GO:0031175 9.72 DTNBP1 BLOC1S6 BLOC1S5
4 anterograde axonal transport GO:0008089 9.67 DTNBP1 BLOC1S6 BLOC1S5 AP3B1
5 lysosome organization GO:0007040 9.63 HPS4 HPS1 AP3B1
6 melanocyte differentiation GO:0030318 9.58 HPS6 HPS4 BLOC1S6
7 melanosome organization GO:0032438 9.56 DTNBP1 BLOC1S6 BLOC1S5 AP3B1
8 melanosome transport GO:0032402 9.54 BLOC1S6 BLOC1S5
9 endosome to melanosome transport GO:0035646 9.51 BLOC1S6 BLOC1S5
10 platelet dense granule organization GO:0060155 9.49 DTNBP1 AP3B1
11 melanosome assembly GO:1903232 9.48 HPS4 HPS1
12 anterograde synaptic vesicle transport GO:0048490 9.46 DTNBP1 BLOC1S6 BLOC1S5 AP3B1
13 positive regulation of pigment cell differentiation GO:0050942 9.43 BLOC1S6 BLOC1S5
14 pigmentation GO:0043473 9.35 HPS6 HPS5 HPS3 BLOC1S6 AP3B1
15 organelle organization GO:0006996 9.02 HPS6 HPS5 HPS4 HPS3 DTNBP1

Molecular functions related to Hermansky-Pudlak Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 GTP-dependent protein binding GO:0030742 8.62 HPS6 AP3B1

Sources for Hermansky-Pudlak Syndrome 1

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
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57 OMIM® (Updated 05-Apr-2021)
61 PubMed
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68 SNOMED-CT via HPO
69 Tocris
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71 UMLS via Orphanet
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