KEGG DISEASE: Hermansky-Pudlak syndrome

DISEASE: Hermansky-Pudlak syndrome

Entry

H00166                      Disease

Name

Hermansky-Pudlak syndrome

Supergrp

Defects in lysosomal trafficking [DS:H02128]
Lysosomal storage disease [DS:H01425]

Description

Hermansky-Pudlak syndrome (HPS) is a group of autosomal recessive disorders caused by defects in lysosome-related organelles and characterized by albinism and prolonged bleeding.

Category

Inherited metabolic disorder

Brite

Human diseases in ICD-11 classification [BR:br08403]
14 Diseases of the skin
  Genetic and developmental disorders affecting the skin
   EC23  Genetic disorders of skin pigmentation
    H00166  Hermansky-Pudlak syndrome

Pathway

hsa04142

Lysosome

Gene

(HPS1) HPS1 [HSA:3257] [KO:K20193]
(HPS2) AP3B1 [HSA:8546] [KO:K12397]
(HPS3) HPS3 [HSA:84343] [KO:K20190]
(HPS4) HPS4 [HSA:89781] [KO:K20194]
(HPS5) HPS5 [HSA:11234] [KO:K20191]
(HPS6) HPS6 [HSA:79803] [KO:K20192]
(HPS7) DTNBP1 [HSA:84062] [KO:K20189]
(HPS8) BLOC1S3 [HSA:388552] [KO:K20186]
(HPS9) BLOC1S6 [HSA:26258] [KO:K20188]
(HPS10) AP3D1 [HSA:8943] [KO:K12396]
(HPS11) BLOC1S5 [HSA:63915] [KO:K20187]

Other DBs

ICD-11:

EC23.20

ICD-10:

E70.3

MeSH:

D022861

OMIM:

203300 608233 614072 614073 614074 614075 614076 614077 614171 617050 619172

Reference

PMID:16420244

Authors

Wei ML

Title

Hermansky-Pudlak syndrome: a disease of protein trafficking and organelle function.

Journal

Pigment Cell Res 19:19-42 (2006)
DOI:10.1111/j.1600-0749.2005.00289.x

Reference

PMID:15941404

Authors

Di Pietro SM, Dell'Angelica EC

Title

The cell biology of Hermansky-Pudlak syndrome: recent advances.

Journal

Traffic 6:525-33 (2005)
DOI:10.1111/j.1600-0854.2005.00299.x

Reference

PMID:12243726

Authors

Starcevic M, Nazarian R, Dell'Angelica EC

Title

The molecular machinery for the biogenesis of lysosome-related organelles: lessons from Hermansky-Pudlak syndrome.

Journal

Semin Cell Dev Biol 13:271-8 (2002)
DOI:10.1126/science.2363050

Reference

PMID:8896559 (HPS1)

Authors

Oh J, Bailin T, Fukai K, Feng GH, Ho L, Mao JI, Frenk E, Tamura N, Spritz RA

Title

Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles.

Journal

Nat Genet 14:300-6 (1996)
DOI:10.1038/ng1196-300

Reference

PMID:10024875 (AP3B1)

Authors

Dell'Angelica EC, Shotelersuk V, Aguilar RC, Gahl WA, Bonifacino JS

Title

Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta 3A subunit of the AP-3 adaptor.

Journal

Mol Cell 3:11-21 (1999)
DOI:10.1016/s1097-2765(00)80170-7

Reference

PMID:11455388 (HPS3)

Authors

Anikster Y, Huizing M, White J, Shevchenko YO, Fitzpatrick DL, Touchman JW, Compton JG, Bale SJ, Swank RT, Gahl WA, Toro JR

Title

Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico.

Journal

Nat Genet 28:376-80 (2001)
DOI:10.1038/ng576

Reference

PMID:11836498 (HPS4)

Authors

Suzuki T, Li W, Zhang Q, Karim A, Novak EK, Sviderskaya EV, Hill SP, Bennett DC, Levin AV, Nieuwenhuis HK, Fong CT, Castellan C, Miterski B, Swank RT, Spritz RA

Title

Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene.

Journal

Nat Genet 30:321-4 (2002)
DOI:10.1038/ng835

Reference

PMID:12548288 (HPS5 HPS6)

Authors

Zhang Q, Zhao B, Li W, Oiso N, Novak EK, Rusiniak ME, Gautam R, Chintala S, O'Brien EP, Zhang Y, Roe BA, Elliott RW, Eicher EM, Liang P, Kratz C, Legius E, Spritz RA, O'Sullivan TN, Copeland NG, Jenkins NA, Swank RT

Title

Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6.

Journal

Nat Genet 33:145-53 (2003)
DOI:10.1038/ng1087

Reference

PMID:12923531 (DTNBP1)

Authors

Li W, Zhang Q, Oiso N, Novak EK, Gautam R, O'Brien EP, Tinsley CL, Blake DJ, Spritz RA, Copeland NG, Jenkins NA, Amato D, Roe BA, Starcevic M, Dell'Angelica EC, Elliott RW, Mishra V, Kingsmore SF, Paylor RE, Swank RT

Title

Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1).

Journal

Nat Genet 35:84-9 (2003)
DOI:10.1038/ng1229

Reference

PMID:16385460 (BLOC1S3)

Authors

Morgan NV, Pasha S, Johnson CA, Ainsworth JR, Eady RA, Dawood B, McKeown C, Trembath RC, Wilde J, Watson SP, Maher ER

Title

A germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky-Pudlak syndrome (HPS8).

Journal

Am J Hum Genet 78:160-6 (2006)
DOI:10.1086/499338

Reference

PMID:22461475 (BLOC1S6)

Authors

Badolato R, Prandini A, Caracciolo S, Colombo F, Tabellini G, Giacomelli M, Cantarini ME, Pession A, Bell CJ, Dinwiddie DL, Miller NA, Hateley SL, Saunders CJ, Zhang L, Schroth GP, Plebani A, Parolini S, Kingsmore SF

Title

Exome sequencing reveals a pallidin mutation in a Hermansky-Pudlak-like primary immunodeficiency syndrome.

Journal

Blood 119:3185-7 (2012)
DOI:10.1182/blood-2012-01-404350

Reference

PMID:26744459 (AP3D1)

Authors

Ammann S, Schulz A, Krageloh-Mann I, Dieckmann NM, Niethammer K, Fuchs S, Eckl KM, Plank R, Werner R, Altmuller J, Thiele H, Nurnberg P, Bank J, Strauss A, von Bernuth H, Zur Stadt U, Grieve S, Griffiths GM, Lehmberg K, Hennies HC, Ehl S

Title

Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome.

Journal

Blood 127:997-1006 (2016)
DOI:10.1182/blood-2015-09-671636

Reference

PMID:32565547 (BLOC1S5)

Authors

Pennamen P, Le L, Tingaud-Sequeira A, Fiore M, Bauters A, Van Duong Beatrice N, Coste V, Bordet JC, Plaisant C, Diallo M, Michaud V, Trimouille A, Lacombe D, Lasseaux E, Delevoye C, Picard FM, Delobel B, Marks MS, Arveiler B

Title

BLOC1S5 pathogenic variants cause a new type of Hermansky-Pudlak syndrome.

Journal

Genet Med 22:1613-1622 (2020)
DOI:10.1038/s41436-020-0867-5

LinkDB

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