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Disease Database


Recent update from: 24.03.2010

This site is maintained and edited by
Dr. rer. medic. Markus Preising, Dipl.Biol.
Laboratory of Molecular Ophthalmology
Department of Opthalmology
Justus-Liebig-University, Giessen, Germany
Head: Prof. Dr. med. Birgit Lorenz

Disease Gene locus MIM Gene Gene MIM MoI Assignment

Linked Marker [cM] Remarks References
Albinism-deafness syndrome ADFN 300700

xl Xq26.3-27.1

F9- DXS91
Chediak-Higashi syndrome CHS1 214500 LYST 606897 ar 1q42.1-42.2

  • Incidence 1/106 birth
  • Link(2)
    Griscelli-Syndrome GS 214450 RAB27A 603868 ar 15q21

    D15S1032- D15S1003- D15S209- CHCL.GCT1C8- D15S1049- D15S121- D15S1029- D15S962
    Hermansky-Pudlak syndrome HPS1 203300 HPS1, ep 604982 ar 10q23

  • OCA
  • Bleeding tendency
  • Ceroid-lipofuscin lysosomal storage disease
  • Prevalence of 1/1800 in northwest Puerto Rico
  • Isolated village in the Swiss Alps
  • Link(7)
    Hermansky-Pudlak syndrome HPS2 203300 ADTB3A 603401 ar 5q13

  • Reduced levels of the AP-3 complex
  • Increased surface expression of lysosomal membrane proteins but not lysosomal proteins
  • Link(6)
    Hermansky-Pudlak syndrome HPS3 203300 HPS3 606118 ar 3q24

    D3S1764- D3S1589- GATA50C05- GATA88G10- D3S1593- D3S1557- D3S1608- D3S2439- D3S1744- D3S3618- [1.6 cM D3S3626-D3S1306- D3S1555- D3S3022- D3S3705]- D3S1306- D3S2401- GGAA15H10- D3S1279- D3S1594- D3S3053
  • 6 Puerto Rican Families
  • PDP
  • Founder Mutation
  • Less severe disease
  • 8 non Puerto-Rican
  • Link(1)
    Hermansky-Pudlak syndrome HPS4 203300 HPS4, le 606682 ar 22q11.2-12.2

    Hermansky-Pudlak syndrome HPS5 203300 HPS5, ru2 607521 ar 11p15-13

    Hermansky-Pudlak syndrome HPS6 203300 HPS6, ru 607522 ar 10q24.32

    Hermansky-Pudlak syndrome HPS7 203300 DTNBP1 607145 ar 6p22.3

    ocular (Nettleship-Falls) OA1 300500 GPR143
    xl Xp22.3-22.2

    DXS237- DXS143
    DXS143- DXS85

    ocular, autosomal recessive OA3 300600 P-gene
    ar 15q11.2-12

    ocular OAR 203310

    ar 6q13-15

    chrom. del. Link(20)
    oculocutaneous - type 1 OCA1 203100 TYR 606933 ar 11q14.3

    oculocutaneous - type 2 OCA2 203200 P-gene
    ar 15q11.2-12

    D15S12 Families with parallel OCA3 and OCA2 phenotypes Link(19)
    oculocutaneous, brown OCA3 203290 TYRP1 115501 ar 9p23

    Families with parallel OCA3 and OCA2 phenotypes Link(5)
    oculocutaneous OCA4 606574 MATP, AIM1, SLC45A2 606202 ar 5p13

    GHR- SLC1A3- AIM1- MYO10
    oculocutaneous OCA5 203200 MC1R 155555 ar 16q24.3

    MoI = Mode of Inheritance: a: autosomal, ad: autosomal dominant, ar: autosomal recessive, xl: x-linked, mt: mitochondrial


    1. Anikster,Y., Huizing,M., White,J., Shevchenko,Y.O., Fitzpatrick,D.L., Touchman,J.W., Compton,J.G., Bale,S.J., Swank,R.T., Gahl,W.A., and Toro,J.R. Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico. 2001; Nat.Genet. 28: 376-380.
      Link Goto Top
    2. Barbosa,M.D., Nguyen,Q.A., Tchernev,V.T., Ashley,J.A., Detter,J.C., Blaydes,S.M., Brandt,S.J., Chotai,D., Hodgman,C., Solari,R.C., Lovett,M., and Kingsmore,S.F. Identification of the homologous beige and Chediak-Higashi syndrome genes. 1996; Nature. 382: 262-265.
      Link Goto Top
    3. Bassi,M.T., Schiaffino,M.V., Renieri,A., De,N.F., Galli,L., Bruttini,M., Gebbia,M., Bergen,A.A., Lewis,R.A., and Ballabio,A. Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome. 1995; Nat.Genet. 10: 13-19.
      Link Goto Top
    4. Boissy,R.E., Zhao,H., Oetting,W.S., Austin,L.M., Wildenberg,S.C., Boissy,Y.L., Zhao,Y., Sturm,R.A., Hearing,V.J., King,R.A., and Nordlund,J.J. Mutation in and lack of expression of tyrosinase-related protein- 1 (TRP-1) in melanocytes from an individual with brown oculocutaneous albinism: a new subtype of albinism classified as "OCA3". 1996; Am.J.Hum.Genet. 58: 1145-1156.
      Link Goto Top
    5. Cohen,T., Muller,R.M., Tomita,Y., and Shibahara,S. Nucleotide sequence of the cDNA encoding human tyrosinase- related protein. 1990; Nucleic.Acids.Res. 18: 2807-2808.
      Link Goto Top
    6. Dell'Angelica,E.C., Shotelersuk,V., Aguilar,R.C., Gahl,W.A., and Bonifacino,J.S. Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta 3A subunit of the AP-3 adaptor. 1999; Mol.Cell. 3: 11-21.
      Link Goto Top
    7. Fukai,K., Holmes,S.A., Lucchese,N.J., Siu,V.M., Weleber,R.G., Schnur,R.E., and Spritz,R.A. Autosomal recessive ocular albinism associated with a functionally significant tyrosinase gene polymorphism. 1995; Nat.Genet. 9: 92-95.
      Link Goto Top
    8. Giebel,L.B., Strunk,K.M., King,R.A., Hanifin,J.M., and Spritz,R.A. A frequent tyrosinase gene mutation in classic, tyrosinase- negative (type IA) oculocutaneous albinism. 1990; Proc.Natl.Acad.Sci.U.S.A. 87: 3255-3258.
      Link Goto Top
    9. Huizing,M., Anikster,Y., Fitzpatrick,D.L., Jeong,A.B., D'Souza,M., Rausche,M., Toro,J.R., Kaiser-Kupfer,M.I., White,J.G., and Gahl,W.A. Hermansky-pudlak syndrome type 3 in ashkenazi jews and other non-puerto rican patients with hypopigmentation and platelet storage-pool deficiency. 2001; Am.J.Hum.Genet. 69: 1022-1032.
      Link Goto Top
    10. King,R.A., Willaert,R.K., Schmidt,R.M., Pietsch,J., Savage,S., Brott,M.J., Fryer,J.P., Summers,C.G., and Oetting,W.S. MC1R Mutations Modify the Classic Phenotype of Oculocutaneous Albinism Type 2 (OCA2). 2003; Am.J.Hum.Genet. 73: 638-645.
      Link Goto Top
    11. Li,W., Zhang,Q., Oiso,N., Novak,E.K., Gautam,R., O'Brien,E.P., Tinsley,C.L., Blake,D.J., Spritz,R.A., Copeland,N.G., Jenkins,N.A., Amato,D., Roe,B.A., Starcevic,M., Dell'Angelica,E.C., Elliott,R.W., Mishra,V., Kingsmore,S.F., Paylor,R.E., and Swank,R.T. Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1). 2003; Nat.Genet. 35: 84-89.
      Link Goto Top
    12. Manga,P., Kromberg,J.G., Box,N.F., Sturm,R.A., Jenkins,T., and Ramsay,M. Rufous oculocutaneous albinism in southern African Blacks is caused by mutations in the TYRP1 gene. 1997; Am.J.Hum.Genet. 61: 1095-1101.
      Link Goto Top
    13. Manga,P., Kromberg,J.G., Turner,A., Jenkins,T., and Ramsay,M. In Southern Africa, Brown Oculocutaneous Albinism (BOCA) Maps to the OCA2 Locus on Chromosome 15q: P-Gene Mutations Identified. 2001; Am.J.Hum.Genet. 68: 782-787.
      Link Goto Top
    14. Menasche,G., Pastural,E., Feldmann,J., Certain,S., Ersoy,F., Dupuis,S., Wulffraat,N., Bianchi,D., Fischer,A., Le Deist,F., and de Saint,B.G. Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome. 2000; Nat.Genet. 25: 173-176.
      Link Goto Top
    15. Nagle,D.L., Karim,M.A., Woolf,E.A., Holmgren,L., Bork,P., Misumi,D.J., McGrail,S.H., Dussault,B.J., Jr., Perou,C.M., Boissy,R.E., Duyk,G.M., Spritz,R.A., and Moore,K.J. Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome. 1996; Nat.Genet. 14: 307-311.
      Link Goto Top
    16. Newton,J.M., Cohen-Barak,O., Hagiwara,N., Gardner,J.M., Davisson,M.T., King,R.A., and Brilliant,M.H. Mutations in the Human Orthologue of the Mouse underwhite Gene (uw) Underlie a New Form of Oculocutaneous Albinism, OCA4. 2001; Am.J.Hum.Genet. 69: 981-988.
      Link Goto Top
    17. Oh,J., Bailin,T., Fukai,K., Feng,G.H., Ho,L., Mao,J.I., Frenk,E., Tamura,N., and Spritz,R.A. Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles. 1996; Nat.Genet. 14: 300-306.
      Link Goto Top
    18. Oh,J., Liu,Z.X., Feng,G.H., Raposo,G., and Spritz,R.A. The Hermansky-Pudlak syndrome (HPS) protein is part of a high molecular weight complex involved in biogenesis of early melanosomes. 2000; Hum.Mol.Genet. 9: 375-385.
      Link Goto Top
    19. Rinchik,E.M., Bultman,S.J., Horsthemke,B., Lee,S.T., Strunk,K.M., Spritz,R.A., Avidano,K.M., Jong,M.T., and Nicholls,R.D. A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism. 1993; Nature. 361: 72-76.
      Link Goto Top
    20. Rose,N.C., Menacker,S.J., Schnur,R.E., Jackson,L., McDonald McGinn,D.M., Stump,T., Emanuel,B.S., and Zackai,E.H. Ocular albinism in a male with del (6)(q13-q15): candidate region for autosomal recessive ocular albinism? 1992; Am.J.Med.Genet. 42: 700-705.
      Link Goto Top
    21. Rosemblat,S., Durham Pierre,D., Gardner,J.M., Nakatsu,Y., Brilliant,M.H., and Orlow,S.J. Identification of a melanosomal membrane protein encoded by the pink-eyed dilution (type II oculocutaneous albinism) gene. 1994; Proc.Natl.Acad.Sci.U.S.A. 91: 12071-12075.
      Link Goto Top
    22. Schiaffino,M.V., Bassi,M.T., Galli,L., Renieri,A., Bruttini,M., Denigris,F., Bergen,A.A.B., Charles,S.J., Yates,J.R.W., Meindl,A., Lewis,R.A., King,R.A., Ballabio,A., De Nigris,F., and Yates,J.R. Analysis of the OA1 gene reveals mutations in only one third of patients with X-linked ocular albinism. 1995; Hum.Mol.Genet. 4: 2319-2325.
      Link Goto Top
    23. Shiloh,Y., Litvak,G., Ziv,Y., Lehner,T., Sandkuyl,L., Hildesheimer,M., Buchris,V., Cremers,F.P., Szabo,P., and White,B.N. Genetic mapping of X-linked albinism-deafness syndrome (ADFN) to Xq26.3-q27.I. 1990; Am.J.Hum.Genet. 47: 20-27.
      Link Goto Top
    24. Shotelersuk,V., Hazelwood,S., Larson,D., Iwata,F., Kaiser-Kupfer,M.I., Kuehl,E., Bernardini,I., and Gahl,W.A. Three new mutations in a gene causing Hermansky-Pudlak syndrome: clinical correlations. 1998; Mol.Genet Metab. 64: 99-107.
      Link Goto Top
    25. Stevens,G., Vanbeukering,J., Jenkins,T., Ramsay,M., and van Beukering,J. An intragenic deletion of the P gene is the common mutation causing tyrosinase-positive oculocutaneous albinism in southern African Negroids. 1995; Am.J.Hum.Genet. 56: 586-591.
      Link Goto Top
    26. Suzuki,T., Li,W., Zhang,Q., Karim,A., Novak,E.K., Sviderskaya,E.V., Hill,S.P., Bennett,D.C., Levin,A.V., Nieuwenhuis,H.K., Fong,C.T., Castellan,C., Miterski,B., Swank,R.T., and Spritz,R.A. Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene. 2002; Nat.Genet. 30: 321-324.
      Link Goto Top
    27. Tripathi,R.K., Bundey,S., Musarella,M.A., Droetto,S., Strunk,K.M., Holmes,S.A., and Spritz,R.A. Mutations of the tyrosinase gene in Indo-Pakistani patients with type I (tyrosinase-deficient) oculocutaneous albinism (OCA). 1993; Am.J.Hum.Genet. 53: 1173-1179.
      Link Goto Top
    28. Wildenberg,S.C., Oetting,W.S., Almodovar,C., Krumwiede,M., White,J.G., and King,R.A. A gene causing Hermansky-Pudlak syndrome in a Puerto Rican population maps to chromosome 10q2. 1995; Am.J.Hum.Genet. 57: 755-765.
      Link Goto Top
    29. Zhang,Y., Schlachetzki,F., Li,J.Y., Boado,R.J., and Pardridge,W.M. Organ-specific gene expression in the rhesus monkey eye following intravenous non-viral gene transfer. 2003; Mol.Vis. 9:465-72.: 465-472.
      Link Goto Top
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