MCID: HRM001
MIFTS: 60

Hermansky-Pudlak Syndrome malady

Genetic diseases, Rare diseases, Eye diseases, Skin diseases, Metabolic diseases, Blood diseases categories

Summaries for Hermansky-Pudlak Syndrome

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NIH Rare Diseases:41 Hermansky-pudlak syndrome is a multisystem, genetic condition characterized blood platelet dysfunction with prolonged bleeding, visual impairment, and abnormally light coloring of the skin, hair, and eyes (oculocutaneous albinism). long-term sun exposure greatly increases the risk of skin damage and skin cancers. some individuals have colitis, kidney failure, and pulmonary fibrosis. symptoms of pulmonary fibrosis usually appear during the early thirties and rapidly worsen. this condition is inherited in an autosomal recessive fashion.there are eight different types of hermansky-pudlak syndrome, which can be distinguished by their signs and symptoms and underlying genetic cause. types 1 and 4 are the most severe forms. types 1, 2, and 4 are the only types associated with pulmonary fibrosis. individuals with type 3, 5, or 6 have the mildest symptoms of all the types. little is known about the signs, symptoms, and severity of types 7 and 8. last updated: 9/29/2011

MalaCards based summary: Hermansky-Pudlak Syndrome, also known as hps, is related to hermansky-pudlak syndrome 1 and hermansky-pudlak syndrome 5, and has symptoms including visual impairment, nystagmus and ocular albinism. An important gene associated with Hermansky-Pudlak Syndrome is DTNBP1 (dystrobrevin binding protein 1), and among its related pathways are Lysosome and Clathrin derived vesicle budding. The compounds dhica and kojic acid have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and kidney, and related mouse phenotypes are limbs/digits/tail and no phenotypic analysis.

Disease Ontology:9 An autosomal recessive disease characterized by oculocutaneous albinism, bleeding problems due to platelet storage pool defect, visual impairment and lysosomal accumulation of ceroid lipofuscin.

Genetics Home Reference:21 Hermansky-Pudlak syndrome is a disorder characterized by a condition called oculocutaneous albinism, which causes abnormally light coloring (pigmentation) of the skin, hair, and eyes. Affected individuals typically have fair skin and white or light-colored hair. People with this disorder have a higher than average risk of skin damage and skin cancers caused by long-term sun exposure. Oculocutaneous albinism reduces pigmentation of the colored part of the eye (iris) and the light-sensitive tissue at the back of the eye (retina). Reduced vision, rapid and involuntary eye movements (nystagmus), and increased sensitivity to light (photophobia) are also common in oculocutaneous albinism. In Hermansky-Pudlak syndrome, these vision problems usually remain stable after early childhood.

GeneReviews summary for hps

Aliases & Classifications for Hermansky-Pudlak Syndrome

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Hermansky-Pudlak Syndrome, Aliases & Descriptions:

Name: Hermansky-Pudlak Syndrome 9 19 41 21 11 43 47
Hps 9 41 21 47
Hermansky Pudlak Syndrome 41 20 22
Albinism with Hemorrhagic Diathesis and Pigmented Reticuloendothelial Cells 41 60
 
Platelet Storage Pool Deficiency 60
Delta Storage Pool Disease 41
Hermanski-Pudlak Syndrome 60
Hantavirus Infections 60


Classifications:



Characteristics (Orphanet epidemiological data):

47
hermansky-pudlak syndrome:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: any age


External Ids:

Disease Ontology9 DOID:3753
NCIt38 C37261
MeSH33 D022861
Orphanet47 79430
ICD10 via Orphanet26 E70.3

Related Diseases for Hermansky-Pudlak Syndrome

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Diseases in the Hermansky-Pudlak Syndrome family:

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

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

(show top 50)    (show all 123)
idRelated DiseaseScoreTop Affiliating Genes
1hermansky-pudlak syndrome 132.0HPS1
2hermansky-pudlak syndrome 531.8HPS5
3hermansky-pudlak syndrome 331.8HPS3
4hermansky-pudlak syndrome 631.8HPS6
5pulmonary fibrosis31.8HPS4, HPS3, HPS1
6albinism31.6TYRP1, TYR, HPS1
7chediak-higashi syndrome31.4TYR
8oculocutaneous albinism31.3AP3B1, TYRP1, TYR
9platelet storage pool deficiency30.5BLOC1S3, AP3B1, HPS3, HPS5, HPS4, HPS1
10melanoma30.0AGFG1, CD63, HPS1, TYR, TYRP1
11hermansky-pudlak syndrome 210.9
12hermansky-pudlak syndrome 710.7
13hermansky-pudlak syndrome 910.7
14colitis10.7
15hermansky-pudlak syndrome 810.7
16hermansky-pudlak syndrome 410.7
17pneumonia10.7
18hermansky-pudlak syndrome with pulmonary fibrosis10.6
19diffuse pulmonary fibrosis10.5
20interstitial lung disease10.5
21hermansky-pudlak syndrome without pulmonary fibrosis10.5
22isolated delta-storage pool disease10.5
23anhaptoglobinemia10.5
24hantavirus pulmonary syndrome10.5
25pulmonary function10.4
26hemophagocytic lymphohistiocytosis10.4
27neuronitis10.4
28thrombasthenia10.4
29albinism, oculocutaneous, type ia10.4TYR
30malaria10.3
31coronary artery disease10.3
32artery disease10.3
33schizophrenia10.3
34systemic lupus erythematosus10.3
35lung cancer10.3
36hiv-110.3
37cervical cancer, somatic10.3
38neuronal ceroid-lipofuscinoses10.3
39cervical squamous cell carcinoma10.3
40crohn's disease10.3
41glomerulonephritis10.3
42pulmonary sarcoidosis10.3
43nonspecific interstitial pneumonia10.3
44gastroduodenitis10.3
45pulmonary alveolar proteinosis10.3
46crescentic glomerulonephritis10.3
47dysostosis10.3
48intestinal disease10.3
49kidney disease10.3
50lupus erythematosus10.3

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



Diseases related to hermansky-pudlak syndrome

Symptoms for Hermansky-Pudlak Syndrome

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Symptoms:

 47 (show all 44)
  • iris albinism/ocular albinism
  • mild visual loss/impaired visual acuity
  • nystagmus
  • diffuse/generalised skin hypopigmentation/cutaneous albinism
  • immunodeficiency/increased susceptibility to infections/recurrent infections
  • hemorrhage/hemorrhagic syndrome/excessive/long-lasting bleeding
  • autosomal recessive inheritance
  • cataract/lens opacification
  • retinal albinism
  • macular pigmentary anomaly/cherry-red spot
  • optic nerve anomaly/optic atrophy/anomaly of the papilla
  • myopia
  • astigmatism
  • photophobia
  • abnormal vep/visual evoked potential
  • abnormal eye movements/oculomotor disorder
  • strabismus/squint
  • ecchymoses
  • decreased hair pigmentation/hypopigmentation of hair
  • albinism (hair)
  • lung fibrosis
  • bruisability
  • structural anomalies of the kidney and the urinary tract
  • renal failure
  • metrorrhagia/menorrhagia/hemorrhagic cycles/hyper/poly/spanio/dysmenorrhea
  • epistaxis/nose bleeding
  • visual loss/blindness/amblyopia
  • long/thick/curved lashes/trichomegaly/polytrichia
  • enamel anomaly
  • hyperkeratosis/ainhum/hyperkeratotic skin fissures
  • thick skin/pachydermia/orange skin
  • pigmented naevi/naevus pigmentosus/lentigo
  • intestinal/colonic anomaly
  • acute abdominal pain/colic
  • malabsorption/chronic diarrhea/steatorrhea
  • inflammatory intestinal disease
  • gastrointestinal bleeding/hemorrhage/hematemesis/melena/rectorrhagia
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • cardiomyopathy/hypertrophic/dilated
  • polynuclear cells/neutrophils anomalies/neutropenia
  • platelet disorders/thrombopathies
  • skin/cutaneous neoplasm/tumor/carcinoma/cancer (excluding melanoma)
  • weight loss/loss of appetite/break in weight curve/general health alteration
  • asthenia/fatigue/weakness

HPO human phenotypes related to Hermansky-Pudlak Syndrome:

(show all 36)
id Description Frequency HPO Source Accession
1 visual impairment hallmark (90%) HP:0000505
2 nystagmus hallmark (90%) HP:0000639
3 ocular albinism hallmark (90%) HP:0001107
4 abnormality of coagulation hallmark (90%) HP:0001928
5 generalized hypopigmentation hallmark (90%) HP:0007513
6 abnormality of immune system physiology hallmark (90%) HP:0010978
7 renal insufficiency typical (50%) HP:0000083
8 abnormality of the menstrual cycle typical (50%) HP:0000140
9 epistaxis typical (50%) HP:0000421
10 astigmatism typical (50%) HP:0000483
11 strabismus typical (50%) HP:0000486
12 cataract typical (50%) HP:0000518
13 myopia typical (50%) HP:0000545
14 photophobia typical (50%) HP:0000613
15 optic atrophy typical (50%) HP:0000648
16 abnormality of vision evoked potentials typical (50%) HP:0000649
17 bruising susceptibility typical (50%) HP:0000978
18 abnormality of the macula typical (50%) HP:0001103
19 ocular albinism typical (50%) HP:0001107
20 pulmonary fibrosis typical (50%) HP:0002206
21 hypopigmentation of hair typical (50%) HP:0005599
22 abnormality of the eyelashes occasional (7.5%) HP:0000499
23 visual impairment occasional (7.5%) HP:0000505
24 abnormality of dental enamel occasional (7.5%) HP:0000682
25 hyperkeratosis occasional (7.5%) HP:0000962
26 melanocytic nevus occasional (7.5%) HP:0000995
27 hypertrophic cardiomyopathy occasional (7.5%) HP:0001639
28 weight loss occasional (7.5%) HP:0001824
29 abnormality of thrombocytes occasional (7.5%) HP:0001872
30 abnormality of neutrophils occasional (7.5%) HP:0001874
31 malabsorption occasional (7.5%) HP:0002024
32 abdominal pain occasional (7.5%) HP:0002027
33 inflammation of the large intestine occasional (7.5%) HP:0002037
34 respiratory insufficiency occasional (7.5%) HP:0002093
35 gastrointestinal hemorrhage occasional (7.5%) HP:0002239
36 neoplasm of the skin occasional (7.5%) HP:0008069

Drugs & Therapeutics for Hermansky-Pudlak Syndrome

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Drug clinical trials:

Search ClinicalTrials for Hermansky-Pudlak Syndrome

Search NIH Clinical Center for Hermansky-Pudlak Syndrome

Genetic Tests for Hermansky-Pudlak Syndrome

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Genetic tests related to Hermansky-Pudlak Syndrome:

id Genetic test Affiliating Genes
1 Hermansky-Pudlak Syndrome20 22 HPS6

Anatomical Context for Hermansky-Pudlak Syndrome

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MalaCards organs/tissues related to Hermansky-Pudlak Syndrome:

31
Skin, Eye, Kidney, Lung, Retina, Neutrophil, Colon, Testes, Bone marrow, Bone, Monocytes, Endothelial

Animal Models for Hermansky-Pudlak Syndrome or affiliated genes

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Publications for Hermansky-Pudlak Syndrome

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Articles related to Hermansky-Pudlak Syndrome:

(show top 50)    (show all 285)
idTitleAuthorsYear
1
Hermansky-Pudlak Syndrome: High-Resolution Computed Tomography Findings and Literature Review. (25728501)
2015
2
Hermansky-Pudlak syndrome with nonspecific interstitial pneumonia. (24583434)
2014
3
Hermansky-Pudlak syndrome. Overview of clinical and molecular features and case report of a new HPS-1 variant. (25117010)
2014
4
Circulating Fibrocytes as Biomarker of Prognosis in Hermansky-Pudlak Syndrome. (25347450)
2014
5
An autopsy case of Hermansky-Pudlak syndrome: a case report and review of the literature on treatment. (25447654)
2014
6
Metastatic cutaneous involvement of granulomatous colitis in Hermansky-Pudlak syndrome. (22471786)
2013
7
Disruption of AP3B1 by a chromosome 5 inversion: a new disease mechanism in Hermansky-Pudlak syndrome type 2. (23557002)
2013
8
Association of the Hermansky-Pudlak syndrome type 4 (HPS4) gene variants with cognitive function in patients with schizophrenia and healthy subjects. (24168225)
2013
9
The unique association of iris heterochromia with Hermansky-Pudlak syndrome. (24054038)
2013
10
The alveolar epithelium determines susceptibility to lung fibrosis in Hermansky-Pudlak syndrome. (23043085)
2012
11
Hypertension, chronic kidney disease, and renal pathology in a child with hermansky-pudlak syndrome. (21755057)
2011
12
Early alveolar epithelial dysfunction promotes lung inflammation in a mouse model of Hermansky-Pudlak syndrome. (21616998)
2011
13
Compound heterozygous mutations in 2 siblings with Hermansky-Pudlak syndrome type 1 (HPS1). (20514622)
2010
14
Hermansky-Pudlak syndrome: severe colitis and good response to infliximab. (20543722)
2010
15
Novel mutation causing Hermansky-Pudlak Syndrome Type 2. (20981699)
2010
16
Hermansky-Pudlak syndrome: the importance of molecular subtyping. (20456745)
2010
17
Hermansky-Pudlak syndrome. (20214008)
2009
18
Identifying putative promoter regions of Hermansky-Pudlak syndrome genes by means of phylogenetic footprinting. (19523149)
2009
19
Hermansky-Pudlak syndrome type 1 in patients of Indian descent. (19398212)
2009
20
A novel mutation in a Turkish patient with Hermansky-Pudlak syndrome type 5. (18182080)
2008
21
The Drosophila pigmentation gene pink (p) encodes a homologue of human Hermansky-Pudlak syndrome 5 (HPS5). (17156100)
2007
22
Hermansky-Pudlak syndrome: a disease of protein trafficking and organelle function. (16420244)
2006
23
Crohn's-like colitis, enterocolitis and perianal disease in Hermansky-Pudlak syndrome. (16919103)
2006
24
Lung-restricted macrophage activation in the pearl mouse model of Hermansky-Pudlak syndrome. (16547274)
2006
25
Melanocytes derived from patients with Hermansky-Pudlak Syndrome types 1, 2, and 3 have distinct defects in cargo trafficking. (15675963)
2005
26
Bilateral staphylomas in a patient with Hermansky-Pudlak syndrome. (15655453)
2005
27
Shared mechanisms of lung injury and subsequent fibrosis: role of surfactant proteins in the pathogenesis of interstitial pneumonia in Hermansky-Pudlak Syndrome. (16020872)
2005
28
Melanocyte-specific proteins are aberrantly trafficked in melanocytes of Hermansky-Pudlak syndrome-type 3. (15632015)
2005
29
Murine Hermansky-Pudlak syndrome genes: regulators of lysosome-related organelles. (15170859)
2004
30
Investigation on the IVS5 +5G --> a splice site mutation of HPS1 gene found in Japanese patients with Hermansky-Pudlak syndrome. (15519141)
2004
31
Biogenesis of lysosome-related organelles complex 3 (BLOC-3): a complex containing the Hermansky-Pudlak syndrome (HPS) proteins HPS1 and HPS4. (12847290)
2003
32
Cappuccino, a mouse model of Hermansky-Pudlak syndrome, encodes a novel protein that is part of the pallidin-muted complex (BLOC-1). (12576321)
2003
33
Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6. (12548288)
2003
34
Hermansky-Pudlak syndrome type 4 (HPS-4): clinical and molecular characteristics. (12664304)
2003
35
Hermansky-Pudlak syndrome type 1: gene organization, novel mutations, and clinical-molecular review of non-Puerto Rican cases. (12442288)
2002
36
Disorders of vesicles of lysosomal lineage: the Hermansky-Pudlak syndromes. (12125811)
2002
37
Hermansky-Pudlak syndrome and related disorders of organelle formation. (11208073)
2000
38
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. (10768343)
2000
39
Pulmonary function and high-resolution CT findings in patients with an inherited form of pulmonary fibrosis, Hermansky-Pudlak syndrome, due to mutations in HPS-1. (10631210)
2000
40
HPS gene mutations in Hermansky-Pudlak syndrome. (9973306)
1999
41
Linkage disequilibrium mapping of the gene for Hermansky-Pudlak syndrome to chromosome 10q23.1-q23.3. (8541858)
1995
42
Albinism and Hermansky-Pudlak syndrome in Puerto Rico. (2261023)
1990
43
Regulation of thioredoxin reductase by calcium in Hermansky-Pudlak syndrome. (2730141)
1989
44
Hermansky-Pudlak syndrome. Ophthalmic findings. (3174014)
1988
45
Hermansky-Pudlak syndrome in pregnancy: two case studies. (4061519)
1985
46
The Hermansky-Pudlak syndrome. Report of three cases and review of pathophysiology and management considerations. (3921802)
1985
47
Albinism with haemorrhagic diathesis: Hermansky-Pudlak syndrome. (4084482)
1985
48
Ophthalmic manifestations of the Hermansky-Pudlak syndrome (oculocutaneous albinism and hemorrhagic diathesis). (7065089)
1982
49
Hermansky-Pudlak syndrome. Pulmonary manifestations of a ceroid storage disorder. (443250)
1979
50
Hermansky-Pudlak syndrome (HPS): a proposed block in glutathione peroxidase. (4513648)
1973

Variations for Hermansky-Pudlak Syndrome

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Clinvar genetic disease variations for Hermansky-Pudlak Syndrome:

6 (show all 75)
id Gene Variation Type Significance SNP ID Assembly Location
1BLOC1S3NM_212550.3(BLOC1S3): c.448delC (p.Gln150Argfs)deletionPathogenicrs281865116GRCh37Chr 19, 45683002: 45683002
2NM_032383.3(HPS3): c.2888-1612G> Asingle nucleotide variantPathogenicrs281865096GRCh37Chr 3, 148888270: 148888270
3HPS1NM_000195.3(HPS1): c.1189delC (p.Gln397Serfs)deletionPathogenicrs281865084GRCh37Chr 10, 100185444: 100185444
4HPS1NM_000195.3(HPS1): c.1323dupA (p.Gln442Thrfs)duplicationPathogenicrs281865085GRCh37Chr 10, 100185309: 100185310
5HPS1NM_000195.3(HPS1): c.1375delA (p.Ser459Valfs)deletionPathogenicrs281865086GRCh37Chr 10, 100184092: 100184092
6HPS1NM_000195.3(HPS1): c.166_168delATC (p.Ile56del)deletionPathogenicrs281865073GRCh37Chr 10, 100195479: 100195481
7HPS1NM_000195.3(HPS1): c.1691delA (p.Lys564Argfs)deletionPathogenicrs281865087GRCh37Chr 10, 100182178: 100182178
8HPS1NM_000195.3(HPS1): c.1744-2A> Csingle nucleotide variantPathogenicrs281865088GRCh37Chr 10, 100179917: 100179917
9HPS1NM_000195.3(HPS1): c.1749G> A (p.Trp583Ter)single nucleotide variantPathogenicrs281865089GRCh37Chr 10, 100179910: 100179910
10HPS1NM_000195.3(HPS1): c.2003T> C (p.Leu668Pro)single nucleotide variantPathogenicrs281865090GRCh37Chr 10, 100177421: 100177421
11HPS1NM_000195.3(HPS1): c.288delT (p.Asp97Thrfs)deletionPathogenicrs281865074GRCh37Chr 10, 100195139: 100195139
12HPS1NM_000195.3(HPS1): c.355delC (p.His119Thrfs)deletionPathogenicrs281865075GRCh37Chr 10, 100195072: 100195072
13HPS1NM_000195.3(HPS1): c.391C> T (p.Arg131Ter)single nucleotide variantPathogenicrs281865076GRCh37Chr 10, 100195036: 100195036
14HPS1NM_000195.3(HPS1): c.418delG (p.Ala140Argfs)deletionPathogenicrs281865078GRCh37Chr 10, 100193829: 100193829
15HPS1NM_000195.3(HPS1): c.532dupC (p.Gln178Profs)duplicationPathogenicrs281865079GRCh37Chr 10, 100191023: 100191024
16HPS1NM_000195.3(HPS1): c.716T> C (p.Leu239Pro)single nucleotide variantPathogenicrs281865080GRCh37Chr 10, 100190380: 100190380
17HPS1NM_000195.3(HPS1): c.932delG (p.Ser311Thrfs)deletionPathogenicrs281865091GRCh37Chr 10, 100189335: 100189335
18HPS1NM_000195.3(HPS1): c.962delG (p.Gly321Alafs)deletionPathogenicrs281865081GRCh37Chr 10, 100186997: 100186997
19HPS1NM_000195.3(HPS1): c.972delC (p.Met325Trpfs)deletionPathogenicrs281865082GRCh37Chr 10, 100186987: 100186987
20HPS1NM_000195.3(HPS1): c.972dupC (p.Met325Hisfs)duplicationPathogenicrs281865083GRCh37Chr 10, 100186986: 100186987
21HPS1NM_000195.3(HPS1): c.974_975insC (p.Met325Ilefs)insertionPathogenicrs281865092GRCh37Chr 10, 100186984: 100186985
22HPS4NM_022081.5(HPS4): c.1866delC (p.Thr623Profs)deletionPathogenicrs281865099GRCh37Chr 22, 26853914: 26853914
23HPS4NM_022081.5(HPS4): c.2089_2093dupAAGCA (p.Lys699Serfs)duplicationPathogenicrs281865100GRCh37Chr 22, 26849233: 26849237
24HPS4NM_022081.5(HPS4): c.461A> G (p.His154Arg)single nucleotide variantPathogenicrs281865098GRCh37Chr 22, 26868308: 26868308
25HPS4NM_022081.5(HPS4): c.57dupT (p.Leu20Serfs)duplicationPathogenicrs281865097GRCh37Chr 22, 26875305: 26875306
26NM_032383.3(HPS3): c.2482-2A> Gsingle nucleotide variantPathogenicrs397507168GRCh37Chr 3, 148881627: 148881627
27HPS5NM_181507.1(HPS5): c.1871T> G (p.Leu624Arg)single nucleotide variantPathogenicrs281865102GRCh37Chr 11, 18313558: 18313558
28HPS5NM_181507.1(HPS5): c.2593C> T (p.Arg865Ter)single nucleotide variantPathogenicrs281865104GRCh37Chr 11, 18309206: 18309206
29HPS5NM_181507.1(HPS5): c.2624delT (p.Leu875Cysfs)deletionPathogenicrs281865105GRCh37Chr 11, 18309175: 18309175
30HPS5NM_181507.1(HPS5): c.2928_2929dupGA (p.Thr977Argfs)duplicationPathogenicrs397507169GRCh37Chr 11, 18306914: 18306915
31HPS5NM_181507.1(HPS5): c.3293C> T (p.Thr1098Ile)single nucleotide variantPathogenicrs61884288GRCh37Chr 11, 18303533: 18303533
32HPS5NM_181507.1(HPS5): c.879dupC (p.Lys294Glnfs)duplicationPathogenicrs281865101GRCh37Chr 11, 18326985: 18326986
33BLOC1S6NM_012388.2(BLOC1S6): c.232C> T (p.Gln78Ter)single nucleotide variantPathogenicrs201348482GRCh37Chr 15, 45895305: 45895305
34HPS6HPS6, 1-BP INS, 1066GinsertionPathogenic
35HPS6HPS6, 2-BP DEL, 1865TGdeletionPathogenic
36HPS6NM_024747.5(HPS6): c.913C> T (p.Gln305Ter)single nucleotide variantPathogenicrs281865110GRCh37Chr 10, 103826144: 103826144
37HPS6HPS6, 1-BP DUP, 238GduplicationPathogenic
38HPS6NM_024747.5(HPS6): c.815C> T (p.Thr272Ile)single nucleotide variantPathogenicrs281865109GRCh37Chr 10, 103826046: 103826046
39HPS6NM_024747.5(HPS6): c.223C> T (p.Gln75Ter)single nucleotide variantPathogenicrs281865107GRCh37Chr 10, 103825454: 103825454
40HPS6NM_024747.5(HPS6): c.1234C> T (p.Gln412Ter)single nucleotide variantPathogenicrs281865112GRCh37Chr 10, 103826465: 103826465
41HPS6NM_024747.5(HPS6): c.1713_1716delTCTG (p.Leu572Alafs)deletionPathogenicrs281865113GRCh37Chr 10, 103826944: 103826947
42HPS5NM_181507.1(HPS5): c.2025_2028delAGTT (p.Val676Metfs)deletionPathogenicrs281865103GRCh37Chr 11, 18313401: 18313404
43DTNBP1NM_032122.4(DTNBP1): c.307C> T (p.Gln103Ter)single nucleotide variantPathogenicrs104893945GRCh37Chr 6, 15627622: 15627622
44NC_000005.10: g.104486890_104506841del19952deletionPathogenicGRCh37Chr 5, 103822591: 103842542
45HPS4NM_022081.5(HPS4): c.1891C> T (p.Gln631Ter)single nucleotide variantPathogenicrs119471021GRCh37Chr 22, 26853889: 26853889
46HPS4HPS4, 5-BP INS, GLN698insertionPathogenic
47HPS4HPS4, 1-BP DEL, PHE19deletionPathogenic
48HPS4NM_022081.5(HPS4): c.541C> T (p.Gln181Ter)single nucleotide variantPathogenicrs119471022GRCh37Chr 22, 26866740: 26866740
49HPS4NM_022081.5(HPS4)duplicationPathogenicrs281865164GRCh37Chr 22, 26860623: 26860624
50HPS4NM_022081.5(HPS4): c.649C> T (p.Arg217Ter)single nucleotide variantPathogenicrs119471023GRCh37Chr 22, 26864537: 26864537
51HPS4NM_022081.5(HPS4): c.412G> T (p.Glu138Ter)single nucleotide variantPathogenicrs119471024GRCh37Chr 22, 26868357: 26868357
52HPS4NM_022081.5(HPS4): c.664G> T (p.Glu222Ter)single nucleotide variantPathogenicrs119471025GRCh37Chr 22, 26864522: 26864522
53HPS4HPS4, 1-BP DEL, C, CODON 685deletionPathogenic
54HPS3HPS3, 3904-BP DELdeletionPathogenic
55HPS3NM_032383.3(HPS3): c.1163+1G> Asingle nucleotide variantPathogenicrs201227603GRCh37Chr 3, 148863334: 148863334
56HPS3NM_032383.3(HPS3): c.1691+2T> Gsingle nucleotide variantPathogenicrs281865093GRCh37Chr 3, 148875320: 148875320
57HPS3HPS3, 2621-2A-Gsingle nucleotide variantPathogenic
58NM_032383.3(HPS3): c.2589+1G> Csingle nucleotide variantPathogenicrs281865095GRCh37Chr 3, 148881737: 148881737
59HPS3NM_032383.3(HPS3): c.1189C> T (p.Arg397Trp)single nucleotide variantPathogenicrs121908316GRCh37Chr 3, 148868411: 148868411
60HPS3HPS3, 89-BP INSinsertionPathogenic
61HPS1NM_000195.3(HPS1): c.1472_1487dup16 (p.His497Glnfs)duplicationPathogenicrs281865163GRCh37Chr 10, 100183554: 100183555
62HPS1HPS1, 1-BP INS, 322CinsertionPathogenic
63HPS1NM_000195.3(HPS1): c.1996G> T (p.Glu666Ter)single nucleotide variantPathogenicrs121908385GRCh37Chr 10, 100177428: 100177428
64HPS1HPS1, 1-BP DEL, 322CdeletionPathogenic
65HPS1NM_000195.3(HPS1): c.397G> T (p.Glu133Ter)single nucleotide variantPathogenicrs121908386GRCh37Chr 10, 100195030: 100195030
66HPS1HPS1, 1-BP INS, 962GinsertionPathogenic
67HPS1NM_000195.3(HPS1): c.398+5G> Asingle nucleotide variantPathogenicrs281865077GRCh37Chr 10, 100195024: 100195024
68AP3B1LRG_170p1: p.Lys389_Gln410delinsLysdeletionPathogenicGRCh37Chr 5, 77461436: 77471451
69AP3B1NM_003664.4(AP3B1): c.1739T> G (p.Leu580Arg)single nucleotide variantPathogenicrs121908904GRCh37Chr 5, 77425043: 77425043
70AP3B1AP3B1, 1-BP INS, 1618GinsertionPathogenic
71AP3B1AP3B1, IVS14DS, T-C, +6single nucleotide variantPathogenic
72AP3B1AP3B1, EX15DELdeletionPathogenicGRCh37Chr 5, 77436046: 77444215
73AP3B1NM_003664.4(AP3B1): c.904A> T (p.Arg302Ter)single nucleotide variantPathogenicrs121908905GRCh37Chr 5, 77477369: 77477369
74AP3B1NM_003664.4(AP3B1): c.1525C> T (p.Arg509Ter)single nucleotide variantPathogenicrs121908906GRCh37Chr 5, 77437092: 77437092
75AP3B1NM_003664.4(AP3B1): c.1975G> T (p.Glu659Ter)single nucleotide variantPathogenicrs121908907GRCh37Chr 5, 77412052: 77412052

Expression for genes affiliated with Hermansky-Pudlak Syndrome

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

Pathways for genes affiliated with Hermansky-Pudlak Syndrome

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.3CD63, LAMP2, AP3M1, AP3B1
2
Show member pathways
8.6SNAPIN, BLOC1S3, BLOC1S5, BLOC1S4, BLOC1S6, AP3B1

Compounds for genes affiliated with Hermansky-Pudlak Syndrome

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Sources:
43Novoseek, 2BitterDB, 24HMDB, 12DrugBank
See all sources

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

idCompoundScoreTop Affiliating Genes
1dhica4310.2TYRP1, TYR
2kojic acid4310.2TYRP1, TYR
3arbutin2 4311.1TYR, TYRP1
4dopaquinone43 2411.1TYR, TYRP1
5eumelanin4310.0TYRP1, TYR
6dopachrome4310.0TYR, TYRP1
7levodopa43 1210.7TYRP1, TYR, HPS1
8sucrose43 24 1211.7CD63, LAMP2, TYRP1
9hmba439.7TYR, TYRP1
10mannose 6-phosphate43 2410.4AGFG1, CD63, LAMP2, TYRP1

GO Terms for genes affiliated with Hermansky-Pudlak Syndrome

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

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1BLOC-3 complexGO:003108510.2HPS4, HPS1
2BLOC-2 complexGO:003108410.1HPS3, HPS5, HPS6
3melanosome membraneGO:003316210.0DTNBP1, TYR, TYRP1
4platelet dense granule membraneGO:003108810.0CD63, LAMP2
5synaptic vesicle membraneGO:00306729.9SNAPIN, DTNBP1
6transport vesicleGO:00301339.8BLOC1S6, BLOC1S5, BLOC1S3
7melanosomeGO:00424709.7HPS4, TYR, TYRP1
8endosome membraneGO:00100089.5TYRP1, DTNBP1, CD63
9lysosomeGO:00057649.4TYR, AP3M1, LAMP2, HPS4, HPS1
10lysosomal membraneGO:00057659.3AP3B1, AP3M1, LAMP2, CD63
11BLOC-1 complexGO:00310838.5SNAPIN, DTNBP1, BLOC1S6, BLOC1S4, BLOC1S2, BLOC1S5

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

(show all 19)
idNameGO IDScoreTop Affiliating Genes
1secretion of lysosomal enzymesGO:003329910.1BLOC1S6, HPS1, BLOC1S3
2organelle organizationGO:000699610.1HPS3, HPS5, HPS6
3positive regulation of natural killer cell activationGO:003281610.1BLOC1S3, HPS1, BLOC1S6
4pigmentationGO:004347310.0BLOC1S3, HPS3, HPS5
5positive regulation of pigment cell differentiationGO:005094210.0BLOC1S5, BLOC1S6
6endosome to melanosome transportGO:00356469.9BLOC1S6, BLOC1S5, BLOC1S3
7melanosome transportGO:00324029.8BLOC1S6, BLOC1S3, BLOC1S5
8lysosome organizationGO:00070409.8HPS4, HPS1
9post-Golgi vesicle-mediated transportGO:00068929.8BLOC1S4, BLOC1S3, BLOC1S6, DTNBP1
10protein targeting to lysosomeGO:00066229.8AP3B1, AP3M1
11platelet dense granule organizationGO:00601559.8BLOC1S2, BLOC1S3, DTNBP1
12melanocyte differentiationGO:00303189.7BLOC1S6, HPS6, HPS1, TYRP1, HPS4
13platelet activationGO:00301689.7BLOC1S3, LAMP2, CD63
14membrane organizationGO:00610249.5BLOC1S3, BLOC1S4, BLOC1S6, DTNBP1
15blood coagulationGO:00075968.9DTNBP1, HPS5, HPS4, HPS1, HPS6, LAMP2
16neuron projection developmentGO:00311758.6SNAPIN, DTNBP1, BLOC1S6, BLOC1S4, BLOC1S2, BLOC1S5
17melanosome organizationGO:00324388.1SNAPIN, DTNBP1, AP3B1, BLOC1S6, TYRP1, BLOC1S3
18anterograde axon cargo transportGO:00080898.0SNAPIN, BLOC1S3, DTNBP1, AP3M1, AP3B1, BLOC1S6
19anterograde synaptic vesicle transportGO:00484908.0BLOC1S4, BLOC1S2, BLOC1S3, SNAPIN, AP3M1, AP3B1

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

idNameGO IDScoreTop Affiliating Genes
1protein homodimerization activityGO:00428039.5HPS4, BLOC1S6, TYR, TYRP1
2protein bindingGO:00055156.0AGFG1, TYRP1, TYR, BLOC1S3, BLOC1S5, BLOC1S2

Products for genes affiliated with Hermansky-Pudlak Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Hermansky-Pudlak Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet