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DATABASES

Disease Database

Syndromes

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
ADRP and sensorineural deafness RP21,RP8 601850

ad unlinked

D9S118
D9S121, ASS
  • Extreme variable age of onset
  • First subjective problems in the third decade
  • Slowly progressive
  • Link(41)
    Link(80)
    Alagille Syndrome AGS 118450 JAG1 601920 ad 20p12

    D20S27, D20S59, D20S61
  • Chinese boy - Interstitial deletion 46,XY,der(20)dir ins(7;20)(q11.23;p11.23p12.2 or p12.2p13)mat
  • Mother - 46,XX,dir ins(7;20)(q11.23; p11.23p12.2 or p12.2p13)
  • Link(78)
    Link(31)
    Link(45)
    Link(55)
    Link(39)
    Alström Syndrome ALMS 203800 ALMS1 606844 ar 2p13

    D2S327- D2S2110- D2S286
    Link(46)
    Link(15)
    Link(16)
    Link(28)
    Ataxia and Retinitis Pigmentosa with Isolated Vitamin E Deficiency

    TTPA 600415 ar 8q13.1-3



    Link(93)
    Autosomal Dominant Rhegmatogenous Retinal Detachment RRD
    COL2A1 120140 ar 12q13.11-13



    Link(24)
    Cerebellar ataxia, ad, with retinal degeneration ADCAII, SCA7 164500 SCA7 607640 ad 3p12-21.1


    Expanding translated CAG repeat Link(18)
    Link(19)
    CRD with Ameliogenesis imperfecta

    CNNM4
    ar 2q11

    rs2970925 - rs953320 [5.4 kb]
    Link(21)
    Link(66)
    Link(64)
    Joubert Syndrome JBTS1 213300 INPP5E 613037 ar 9q34.3



    Link(76)
    Link(88)
    Link(10)
    Joubert Syndrome JBTS10 609583 CXORF5 311200 ar Xp22.3-p22.2


    Link(14)
    Joubert Syndrome JBTS2 608091

    ar 11p13.3-12

    D11S4191-D11S1344
    Link(89)
    Link(40)
    Joubert Syndrome JBTS3 608629 AHI1 608894 ar 6q23.3



    Link(63)
    Joubert Syndrome JBTS4 609583 NPHP1 607100 ar 2q13


    Link(62)
    Joubert Syndrome JBTS5 610188 CEP290 610142 ar 12q21.3

    D12S1660- D12S1708- 12_JS2- D12S2076- D12S- SNP_A-1517043- D12S1289- D12S1719- SNP_A-1514136- D12S853- SNP_A-1518307- 12_JS15- SNP_A-1513321- 12_JS17- SNP_A-1507793- SNP_A- 12_JS41- 12_JS43- D12S1678- SNP_A-1509732- SNP_A-1517251- SNP_A-151621
    Link(90)
    Link(77)
    Joubert Syndrome JBTS6
    MKS3 607361 ar 8q24



    Link(5)
    Joubert Syndrome JBTS7 611560 RPGRIP1L 610937 ar 16q12.2



    Link(42)
    Link(2)
    Link(20)
    Joubert Syndrome JBTS9 612285 CC2D2A 612013 ar 4p15.3



    Link(25)
    Link(53)
    Kearns-Sayre syndrome KS 530000

    mt mitochondrial



    Link(29)<
    Link(38)
    Link(52)
    Link(70)
    Lowe Oculocerebrorenal Syndrome OCRL 309000 OCRL1
    xl Xq25-26

    DXS100- DXS553
  • Inborn error of inositol phosphate metabolism
  • (3)
    Link(44)
    Link(69)
    Meckel Syndrom MKS6 612284 CC2D2A 612013 ar 4p15.3


    Finnish Link(85)
    Microphthalmia, posterior,with retinitis pigmentosa, foveoschisis, and optic disc drusen
    611040 MFRP 606227 mt 11q23



    Link(4)
    Link(84)
    Mohr-Tranebjaerg Syndrome MTS 304700 TIMM8A 300356 xl Xq22.1



    Link(87)
    Link(86)
    Link(37)
    Link(43)
    NARP syndrome
    551500 MTATP6 516060 mt mitochondrial



    Link(32)
    Norrie disease ND 310600 NDP 310600 xl Xp11.4

    tel- DXS7 (L1.28) -MAOB- NDP- DXS426-cen
  • Affects 1:100000
  • Link(8)
    Link(13)
    Link(81)
    North Carolina Macular Dystrophy segregating with progressive sensorineural deafness MCDR 136550

    ad 6

    D6S251- D6S252- D6S1717- D6S1543- D6S468- D6S283
  • Progressive sensorineural deafness present in all affecteds over age 40
  • Linkage to MCDR1 excluded
  • (22)
    Pigmentary Retinopathy and Sensorineural Deafness

    MTTH 300356 mt mitochondrial



    Link(17)
    Posterior Column Ataxia with Retinitis Pigmentosa AXPC1 609033

    ar 1q31-32

    D1S2692
    Link(30)
    Refsum Disease ARD1 266500 PAHX 602026 ar 10pter-11.2



    Link(51)
    Link(48)
    Link(34)
    Link(35)
    Refsum Disease ARD2 266500 PEX7 601757 ar 6q22-24



    Link(92)
    Link(11)
    (50)
    Refsum Disease, Adult with Increased Pipecolicacidemia RDPA 600964

    ar 10pter-11.2

    D10S249 - D10S466
    Link(51)
    Refsum Disease, infantile IRD 266510 PEX1 602136 ar 7q21-22



    Link(68)
    Link(71)
    Refsum Disease, infantile IRD 266510 PXMP3 170993 ar 8q21.1



    Link(82)
    Senior Loken Syndrome SLSN6 610189 CEP290 610142 ar 12q21.3

    D12S1660- D12S1708- 12_JS2- D12S2076- D12S- SNP_A-1517043- D12S1289- D12S1719- SNP_A-1514136- D12S853- SNP_A-1518307- 12_JS15- SNP_A-1513321- 12_JS17- SNP_A-1507793- SNP_A- 12_JS41- 12_JS43- D12S1678- SNP_A-1509732- SNP_A-1517251- SNP_A-151621
    Link(77)
    Senior-Loken-Syndrom SLSN 602088 NPHP2 243305 ar 9q31

    12.9-cM region flanked by markers D9S280 and GGAT3G09
    Link(54)
    Link(27)
    Link(61)
    Senior-Loken-Syndrom SLSN1 266900 NPHP1 607100 ar 2q13

    D2S48, D2S51
    Link(12)
    Senior-Loken-Syndrom SLSN3 604387 NPHP3 608002 ar 3q22

    D3S1587 and D3S621
    Link(57)
    Link(56)
    Senior-Loken-Syndrom SLSN4 606996 NPHP4 607215 ar 1p36

    D1S2660 and D1S2642
    Link(59)
    Link(79)
    Senior-Loken-Syndrom SLSN5 609254 IQCB1 609237 ar 3q21.1

    D3S1278 - D3S3665 - [D3S1575 - D3S1558 - D3S3649 - D3S1303 - D3S3576 - D3S1267 IQCB1- D3S1269 - D3S1551 8.3 cM] - D3S3607 - D3S1589 - D3S1292
    Link(60)
    Severe Mental Retardation, Spasticity, and Tapetoretinal Degeneration MRST 602685

    ar 15q24

    D15S211- D15S152 [1 - 2]
  • Parents were at least first cousins
  • Link(49)i
    Stickler syndrome STL 108300 COL2A1 120140 ad 12q13.11-13.2



    Link(75)
    Stickler syndrome STL 108300 COL9A1 120210 ad 6q13



    Link(91)
    Stickler syndrome Type 2 STL2 604841 COL11A1 120280 ad 1p21.1


  • Gene shared with Marshall Syndrome
  • Link(74)
    Link(73)
    Link(1)
    Link(47)
    Vasculopathy, Retinal, With Cerebral Leukodystrophy HERNS, CRV, HRV 192315 TREX1 606609 ar 3p21.3-21.1

    D2S327- D2S2110- D2S286
    Link(26)
    Link(36)
    Link(58)
    Link(72)
    Wolfram Syndrome (Diabetes insipidus, diabetes mellitus, optic atrophy and deafness) DIDMOAD 222300 WFS1 606201 ar 4p16

    D4S431
    Link(67)
    Link(6)
    Link(7)
    Link(23)
    Link(9)
    Link(33)
    Link(83)
    Wolfram Syndrome (Diabetes insipidus, diabetes mellitus, optic atrophy and deafness), mitochondrial
    598500

    mt mito - 11778



    Link(6)
    Link(65)
    Wolfram Syndrome 2 (Diabetes insipidus, diabetes mellitus, optic atrophy and deafness) WFS2 604928

    ar 4q22-24

    D4S432, D4S3023, and D4S2366
    Link(23)
    MoI = Mode of Inheritance: a: autosomal, ad: autosomal dominant, ar: autosomal recessive, xl: x-linked, mt: mitochondrial

    References

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      Link Goto Top
    2. Arts,H.H., Doherty,D., van Beersum,S.E., Parisi,M.A., Letteboer,S.J., Gorden,N.T., Peters,T.A., Marker,T., Voesenek,K., Kartono,A., Ozyurek,H., Farin,F.M., Kroes,H.Y., Wolfrum,U., Brunner,H.G., Cremers,F.P., Glass,I.A., Knoers,N.V., and Roepman,R. Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome. 2007; Nat.Genet. 39: 882-888.
      Link Goto Top
    3. Attree,O., Olivos,I.M., Okabe,I., Bailey,L.C., Nelson,D.L., Lewis,R.A., McInnes,R.R., and Nussbaum,R.L. The Lowe's oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol polyphosphate-5-phosphatase. 1992; Nature. 358: 239-242. Goto Top
    4. Ayala-Ramirez,R., Graue-Wiechers,F., Robredo,V., Amato-Almanza,M., Horta-Diez,I., and Zenteno,J.C. A new autosomal recessive syndrome consisting of posterior microphthalmos, retinitis pigmentosa, foveoschisis, and optic disc drusen is caused by a MFRP gene mutation. 2006; Mol.Vis. 12:1483-9.: 1483-1489.
      Link Goto Top
    5. Baala,L., Romano,S., Khaddour,R., Saunier,S., Smith,U.M., Audollent,S., Ozilou,C., Faivre,L., Laurent,N., Foliguet,B., Munnich,A., Lyonnet,S., Salomon,R., Encha-Razavi,F., Gubler,M.C., Boddaert,N., de,L.P., Johnson,C.A., Vekemans,M., Antignac,C., and ttie-Bitach,T. The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome. 2007; Am.J.Hum.Genet. 80: 186-194.
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    6. Barrientos,A., Casademont,J., Saiz,A., Cardellach,F., Volpini,V., Solans,A., Tolosa,E., Urbano-Marquez,A., Estivill,X., and Nunes,V. Autosomal recessive Wolfram syndrome associated with an 8.5-kb mtDNA single deletion. 1996; Am.J.Hum.Genet. 58: 963-970.
      Link Goto Top
    7. Barrientos,A., Volpini,V., Casademont,J., Genis,D., Manzanares,J.M., Ferrer,I., Corral,J., Cardellach,F., Urbano-Marquez,A., Estivill,X., and Nunes,V. A nuclear defect in the 4p16 region predisposes to multiple mitochondrial DNA deletions in families with Wolfram syndrome. 1996; J Clin Invest. 97: 1570-1576.
      Link Goto Top
    8. Berger,W., Meindl,A., van de Pol,T.J., Cremers,F.P., Ropers,H.H., Doerner,C., Monaco,A., Bergen,A.A.B., Lebo,R., Warburg,M., Zergollern,L., Lorenz,B., Gal,A., Bleeker-Wagemakers,E.M., and Meitinger,T. Isolation of a candidate gene for Norrie disease by positional cloning. 1992; Nat.Genet. 1: 199-203.
      Link Goto Top
    9. Bespalova,I.N., Van Camp,G., Bom,S.J., Brown,D.J., Cryns,K., Dewan,A.T., Erson,A.E., Flothmann,K., Kunst,H.P., Kurnool,P., Sivakumaran,T.A., Cremers,C.W., Leal,S.M., Burmeister,M., and Lesperance,M.M. Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss. 2001; Hum Mol.Genet. 10: 2501-2508.
      Link Goto Top
    10. Bielas,S.L., Silhavy,J.L., Brancati,F., Kisseleva,M.V., Al-Gazali,L., Sztriha,L., Bayoumi,R.A., Zaki,M.S., bdel-Aleem,A., Rosti,R.O., Kayserili,H., Swistun,D., Scott,L.C., Bertini,E., Boltshauser,E., Fazzi,E., Travaglini,L., Field,S.J., Gayral,S., Jacoby,M., Schurmans,S., Dallapiccola,B., Majerus,P.W., Valente,E.M., and Gleeson,J.G. Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies. 2009; Nat.Genet. 41: 1032-1036.
      Link Goto Top
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      Link Goto Top
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    13. Chen,Z.Y., Hendriks,R.W., Jobling,M.A., Powell,J.F., Breakefield,X.O., Sims,K.B., and Craig,I.W. Isolation and characterization of a candidate gene for Norrie disease. 1992; Nat.Genet. 1: 204-208.
      Link Goto Top
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      Link Goto Top
    15. Collin,G.B., Marshall,J.D., Boerkoel,C.F., Levin,A.V., Weksberg,R., Greenberg,J., Michaud,J.L., Naggert,J.K., and Nishina,P.M. Alstrom syndrome: further evidence for linkage to human chromosome 2p13. 1999; Hum.Genet. 105: 474-479.
      Link Goto Top
    16. Collin,G.B., Marshall,J.D., Ikeda,A., So,W.V., Russell-Eggitt,I., Maffei,P., Beck,S., Boerkoel,C.F., Sicolo,N., Martin,M., Nishina,P.M., and Naggert,J.K. Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alstrom syndrome. 2002; Nat.Genet. 31: 74-78.
      Link Goto Top
    17. Crimi,M., Galbiati,S., Perini,M.P., Bordoni,A., Malferrari,G., Sciacco,M., Biunno,I., Strazzer,S., Moggio,M., Bresolin,N., and Comi,G.P. A mitochondrial tRNA(His) gene mutation causing pigmentary retinopathy and neurosensorial deafness. 2003; Neurology. 60: 1200-1203.
      Link Goto Top
    18. David,G., Durr,A., Stevanin,G., Cancel,G., Abbas,N., Benomar,A., Belal,S., Lebre,A.S., Abada Bendib,M., Grid,D., Holmberg,M., Yahyaoui,M., Hentati,F., Chkili,T., Agid,Y., and Brice,A. Molecular and clinical correlations in autosomal dominant cerebellar ataxia with progressive macular dystrophy (SCA7). 1998; Hum.Mol.Genet. 7: 165-170.
      Link Goto Top
    19. Del Favero,J., Krols,L., Michalik,A., Theuns,J., Lofgren,A., Goossens,D., Wehnert,A., Van den Bossche,D., Van Zand,K., Backhovens,H., van Regenmorter,N., Martin,J.J., and Van Broeckhoven,C. Molecular genetic analysis of autosomal dominant cerebellar ataxia with retinal degeneration (ADCA type II) caused by CAG triplet repeat expansion. 1998; Hum.Mol.Genet. 7: 177-186.
      Link Goto Top
    20. Delous,M., Baala,L., Salomon,R., Laclef,C., Vierkotten,J., Tory,K., Golzio,C., Lacoste,T., Besse,L., Ozilou,C., Moutkine,I., Hellman,N.E., Anselme,I., Silbermann,F., Vesque,C., Gerhardt,C., Rattenberry,E., Wolf,M.T., Gubler,M.C., Martinovic,J., Encha-Razavi,F., Boddaert,N., Gonzales,M., Macher,M.A., Nivet,H., Champion,G., Bertheleme,J.P., Niaudet,P., McDonald,F., Hildebrandt,F., Johnson,C.A., Vekemans,M., Antignac,C., Ruther,U., Schneider-Maunoury,S., ttie-Bitach,T., and Saunier,S. The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome. 2007; Nat.Genet. 39: 875-881.
      Link Goto Top
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    24. Go,S.L., Maugeri,A., Mulder,J.J., van Driel,M.A., Cremers,F.P., and Hoyng,C.B. Autosomal dominant rhegmatogenous retinal detachment associated with an Arg453Ter mutation in the COL2A1 gene. 2003; Invest.Ophthalmol.Vis.Sci. 44: 4035-4043.
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    33. Inoue,H., Tanizawa,Y., Wasson,J., Behn,P., Kalidas,K., Bernal-Mizrachi,E., Mueckler,M., Marshall,H., Donis-Keller,H., Crock,P., Rogers,D., Mikuni,M., Kumashiro,H., Higashi,K., Sobue,G., Oka,Y., and Permutt,M.A. A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome). 1998; Nat.Genet. 20: 143-148.
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    34. Jansen,G.A., Ofman,R., Ferdinandusse,S., Ijlst,L., Muijsers,A.O., Skjeldal,O.H., Stokke,O., Jakobs,C., Besley,G.T., Wraith,J.E., and Wanders,R.J. Refsum disease is caused by mutations in the phytanoyl-CoA hydroxylase gene. 1997; Nat.Genet. 17: 190-193.
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    35. Jansen,G.A., Wanders,R.J., Watkins,P.A., and Mihalik,S.J. Phytanoyl-coenzyme A hydroxylase deficiency -- the enzyme defect in Refsum's disease. 1997; N.Engl.J Med. 337: 133-134.
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    36. Jen,J., Cohen,A.H., Yue,Q., Stout,J.T., Vinters,H.V., Nelson,S., and Baloh,R.W. Hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS). 1997; Neurology. 49: 1322-1330.
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    37. Jin,H., May,M., Tranebjaerg,L., Kendall,E., Fontan,G., Jackson,J., Subramony,S.H., Arena,F., Lubs,H., Smith,S., Stevenson,R., Schwartz,C., and Vetrie,D. A novel X-linked gene, DDP, shows mutations in families with deafness (DFN-1), dystonia, mental deficiency and blindness. 1996; Nat.Genet. 14: 177-180.
      Link Goto Top
    38. Johns,D.R. Improved molecular-genetic diagnosis of Leber's hereditary optic neuropathy. 1990; N.Engl.J.Med. 323: 1488-1489.
      Link Goto Top
    39. Kamath,B.M., Loomes,K.M., Oakey,R.J., Emerick,K.E., Conversano,T., Spinner,N.B., Piccoli,D.A., and Krantz,I.D. Facial features in Alagille syndrome: specific or cholestasis facies? 2002; Am.J.Med.Genet. 112: 163-170.
      Link Goto Top
    40. Keeler,L.C., Marsh,S.E., Leeflang,E.P., Woods,C.G., Sztriha,L., Al Gazali,L., Gururaj,A., and Gleeson,J.G. Linkage analysis in families with Joubert syndrome plus oculo-renal involvement identifies the CORS2 locus on chromosome 11p12-q13.3. 2003; Am J Hum Genet. 73: 656-662.
      Link Goto Top
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