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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
ADRP and sensorineural deafness RP21,RP8 601850

ad unlinked

D9S121, ASS
  • Extreme variable age of onset
  • First subjective problems in the third decade
  • Slowly progressive
  • Link(41)
    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)
    Alström Syndrome ALMS 203800 ALMS1 606844 ar 2p13

    D2S327- D2S2110- D2S286
    Ataxia and Retinitis Pigmentosa with Isolated Vitamin E Deficiency

    TTPA 600415 ar 8q13.1-3

    Autosomal Dominant Rhegmatogenous Retinal Detachment RRD
    COL2A1 120140 ar 12q13.11-13

    Cerebellar ataxia, ad, with retinal degeneration ADCAII, SCA7 164500 SCA7 607640 ad 3p12-21.1

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

    ar 2q11

    rs2970925 - rs953320 [5.4 kb]
    Joubert Syndrome JBTS1 213300 INPP5E 613037 ar 9q34.3

    Joubert Syndrome JBTS10 609583 CXORF5 311200 ar Xp22.3-p22.2

    Joubert Syndrome JBTS2 608091

    ar 11p13.3-12

    Joubert Syndrome JBTS3 608629 AHI1 608894 ar 6q23.3

    Joubert Syndrome JBTS4 609583 NPHP1 607100 ar 2q13

    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
    Joubert Syndrome JBTS6
    MKS3 607361 ar 8q24

    Joubert Syndrome JBTS7 611560 RPGRIP1L 610937 ar 16q12.2

    Joubert Syndrome JBTS9 612285 CC2D2A 612013 ar 4p15.3

    Kearns-Sayre syndrome KS 530000

    mt mitochondrial

    Lowe Oculocerebrorenal Syndrome OCRL 309000 OCRL1
    xl Xq25-26

    DXS100- DXS553
  • Inborn error of inositol phosphate metabolism
  • (3)
    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

    Mohr-Tranebjaerg Syndrome MTS 304700 TIMM8A 300356 xl Xq22.1

    NARP syndrome
    551500 MTATP6 516060 mt mitochondrial

    Norrie disease ND 310600 NDP 310600 xl Xp11.4

    tel- DXS7 (L1.28) -MAOB- NDP- DXS426-cen
  • Affects 1:100000
  • Link(8)
    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

    Posterior Column Ataxia with Retinitis Pigmentosa AXPC1 609033

    ar 1q31-32

    Refsum Disease ARD1 266500 PAHX 602026 ar 10pter-11.2

    Refsum Disease ARD2 266500 PEX7 601757 ar 6q22-24

    Refsum Disease, Adult with Increased Pipecolicacidemia RDPA 600964

    ar 10pter-11.2

    D10S249 - D10S466
    Refsum Disease, infantile IRD 266510 PEX1 602136 ar 7q21-22

    Refsum Disease, infantile IRD 266510 PXMP3 170993 ar 8q21.1

    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
    Senior-Loken-Syndrom SLSN 602088 NPHP2 243305 ar 9q31

    12.9-cM region flanked by markers D9S280 and GGAT3G09
    Senior-Loken-Syndrom SLSN1 266900 NPHP1 607100 ar 2q13

    D2S48, D2S51
    Senior-Loken-Syndrom SLSN3 604387 NPHP3 608002 ar 3q22

    D3S1587 and D3S621
    Senior-Loken-Syndrom SLSN4 606996 NPHP4 607215 ar 1p36

    D1S2660 and D1S2642
    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
    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

    Stickler syndrome STL 108300 COL9A1 120210 ad 6q13

    Stickler syndrome Type 2 STL2 604841 COL11A1 120280 ad 1p21.1

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

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

    Wolfram Syndrome (Diabetes insipidus, diabetes mellitus, optic atrophy and deafness), mitochondrial

    mt mito - 11778

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

    ar 4q22-24

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


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