Retina

International

Scientific

Newsletter

Contact the Editor

DATABASES

Disease Database

Recent update from: 15.12.2011

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

This site includes links which are off influence of Retina International and do not neccessarily reflect the opinion of Retina International. Therefore, we refrain from any responsibility for these external links.

Genes and loci reported throughout the years -
annual listing

Genes and loci by years

Genes and loci reported throughout the years -
compiled listing

Accumulated genes and loci

Chromosome
Albinism Bardet Biedl Syndrome Colour Vision Defects Cone + Cone Rod Dystrophies
Congenital Stationary Night Blindness
Incontinentia Pigmenti Leber`s Congenital Amaurosis and other Early Onset Severe Retinal Dystrophies Other Diseases
Last update 26.02.04 09.05.07 10.03.04 14.03.10
14.03.10
11.03.04 14.03.10 10.03.04
1
CHS1, q42.1-2, LYST
ACHM4, p13, GNAT2

CRD, p21-13, ABCR

CRD, q12-24

CORD8, q12-24

CORD10, q22, SEMA4A



LCA9, p36

LCA2, p31, RPE65


LCA8, q31-32.1, CRB1

LCA12, q32, RD3


2

BBS5, q31
ACHM2, p11-q12, CNGA3

Oguchi, q37, SAG

LCA19, q37.1, KCNJ13

3
HPS3, q24, HPS3
BBS3, p13-12, ARL6


CSNB Nougaret type, p22, GNAT1

CSNB RHO-type, q21-24, RHO



4

BBS7, q27, BBS2L1

BBS12, q27, FLJ35630



CSNB3, p16.3, PDE6B

LCA, q31.2, LRAT
ABL, q22-24, MTP
5
OCA4, p13, MATP

HPS2, q13, ADTB3



CSNB1B, adCSNB, q35, GRM6




6

HPS7, p22.3 DTNBP1

OAR, q13-15



CRD, p21.1, GUCA1A

COD/CORD, p21.1-12.2

CORD7, q13-15, RIM1

RCD1, q25-26



LCA5, q14, C6ORF152
7

BBS9, p14, PTHB1
Tritanopia, q31.3-32, BCP





8


ACHM3, q21.1-22.1, CNGB3
CORD9, p11-q11, ADAM9


LCA11, q31.3, IMPDH1

9
OCA3, p23, TYRP1

BBS11, q33.1, TRIM32

MORM, q34


COD, p24, KCNV2

Hypomelanosis of Ito, q33-ter


10
HPS1, q23, ep

HPS6, q24-32, ru


CORD15, q23.1-23.2, PCDH21

COD4, q24, PDE6C




GA, q26, OAT
11
HPS5, p15-13, ru2

OCA1, q14.3, Tyr
BBS1, q13, BBS2L2


CSNB2B, q13.1, CABP4

LCA14, q13, CABP4

12

BBS10, q, FLJ23560/C12orf58

CRD, p13.3, CACNA2D4


LCA10, q21.3, CEP290


13




Oguchi disease, q34, GRK1



14

BBS8, q32.1, TTC8
ACHM1,
CRD, q11, RPGRIP


EORD. 14q21-22, OTX2

LCA6, q11, RPGRIP

LCA13, q23.3, RDH12

LCA3. q31.3, SPATA7


15

HPS9, p22.1, PLDN

OCA2, OA3, q11.2-12, P-gene

GS, q21, RAB27A

BBS4, q22.3-23, BBS4


arCSNB, 15q13-14, SLC24A1

CSNB1C, 15q13-14, TRPM1

Hypomelanosis of Ito, q11-13


16
OCA5, q24.3, MC1R
BBS2, q13, BBS2






17



ADCD, p13

CORD5, p13-12, PITPNM3

CORD6, p13-12, GUCY2D

CRD, q

CORD4, q

CORD2, q11.2, AIPL1

CRD, q11.2, HRG4



LCA1, p13, GUCY2D

LCA4, p13.1, AIPL1

18



CORD1, q21.1-21.3




19



CORD2, q13.3, CRX


LCA7, q13.3, CRX

20

BBS6, p12, MKKS






21








22
HPS4, q11.2-12.2, le







X
OA1, p22.3-22.2, OA1

ADFN, q26.3-27.1

Deuteranopia, q28, OPNLW, OPNMW

Protanopia, q28, OPNLW, OPBMW


BCM, q28, OPNMW, OPNLW
CORDX1 (RP15), p22.13-22.11

COD1, p11.4, RPGR


COD, p11.4 - q13.1


CORDX3, p11.23, CACANA1F

XLPCD2, q27


COD2,
q28, OPNMW, OPNLW
CSNB2, AIED (OA2) , p11.23, CACNA1F

CSNB1, p11.3, NYX
Hypomelanosis of Ito, p11

IP1, p11.2,


IP2, q28,

CHM, q21.2, REP1
mt








Remarks

Triallelic Inheritance






Summary
19 Loci
17 Genes id.
12 Loci
11 Genes id.
8 Loci
7 Genes id.
29 Loci
19 Genes id.
131 Loci
13 Genes id.
5 Loci
0 Genes id.
19 Loci
18 Genes id.
3 Loci
3 Genes id.
Return to pagehead
Chromosome Neuronal Ceroid Lipofuscinosis Optic Atrophy Retinal and Macular Dystrophies Retinitis Pigmentosa
Syndromes
Usher Syndrome Vitreoretinopathies
Age-related Macular Dystrophies
Last update 26.02.04 14.03.10 30.11.06 09.05.2010
30.11.06
14.03.10 14.03.10 14.03.10
1
CLN1, CLN4, p32, PPT

BFR, p36-p34, PLA2G5

FFM, STGD1, p22-21, ABCR

Rod/Cone Dystrophy, pseudo dominant, p21-13

ARRP, p36.11, DHDDS

RP32, p21.2-13.3

RP19, p21-13, ABCR

RP18, q13-21, HPRP3

RP35, q22, SEMA4A

RP20, q31, RPE65

RP12, RPCLD, q31-32.1, CRB1

RP39, q41, USH2A

SLSN4, p36, NPHP4

STL2, p21.1, COL1A1

CRD+AI, q11, CNNM4

AXPC1, q31-32

SLSN7, q34-44, SDCCAG8

USH2A, q41, USH2A

ARMD2, p22-21, ABCR

ARMD1, q24-25, HMCN1

ARMD4, q32, CFH


2


MLVT, DHRD, p16, EFEMP1

ARRP, p22.2-24.1, C2ORF71

ARRP, p22.3-24.1, ZNF513

RP28, p15-11, FAM161A

RP33, q11.2, SNRNP200, ASCC3L1

RP38, q14, MERTK


RP26, q31.2-32.3, CERKL

RP47, q37, SAG

ALMS, p13, ALMS1

CRD + Ameliogenesis, q11, CNNM4

SLSN1, JBTS4, q13, NPHP1

JBTS11, q33, TMEM237


SVD, q37, KCNJ13

3

OPA1, q28, OPA1
RPA, q21-24, RHO

RP5, q

RP56, q12.2-12.3, IMPG2

ARRP, q21-24, RHO

RP4, q21-24, RHO

ADCAII ( SCA7), p21.1-12, SCA7

HERNS (CRV, HRV), q21.1-3, TREX1

SLSN5, q21.1, IQCB1

SLSN3, q22, NPHP3

USH2B, p24.2-23, SLC4A7

USH3, q21-25, Clarin-1


4


STGD4
MCDR2
, p16,
PROM1

BCD, q35.2, CYP4V2

RP41, p16, PROM1

RP40, p16.3, PDE6B

RP49, p12-cen, CNGA1

RP29, q32-34,

DIDMOAD, p16, WFS1

JBTS9, MKS6, p15.3, CC2D2A

WFS2, q22 - q24, CISD2



ARMD, q35.1, TLR3
5


MCDR3, p13.1-15.33,

BSMD, q21.2-33.2,

RP43, q31.2-34, PDE6A

USH2C, q14.3-21.3, VLGR1
WGN1, q13-14, VCAN

6


RPA, Retinal pattern dystrophy, p12, RDS/Peripherin

BCAMD, p12.3-q16, IMPG1

PBCRA, q11-16.2,

adRD,p21.1, GUCA1B

adMD, q14, ELOVL4

STGD3, q14, ELOVL4

Dominant drusen with macular dystrophy, q14

autosomal dominant Stargardt-like Macular Dystrophy, q16,

MCDR1, q16,

RP14, p21.3, TULP1

RP7, digenic RP, p12, PRPH2

RP25, q12.4, EYS

North Carolina Macular Dystrophy segregating with progressive sensorineural deafness, 6,

STL3, q13, COL9A1

Refsum Disease, adult 2, q22-24, PEX7

JBTS3, q23.3, AHI1



ARMD, p12.3, C2

ARMD, p12.3, CFB

7


DCMD, p21-15

RP42, p15.3, KLHL7

RP9, p14, PIM1K

RP10, q31.3, IMPDH

Refsum Disease,
q21-22, PEX1

DFEVR, q31, TSPAN12

8

OPA6 ( ROA), q21-22

OMD, q24, RP1L1

VMD1, q24

R0P1, q12-13, RP1

Refsum Disease, infantile, q21.1, PXMP3

Ataxia and Retinitis Pigmentosa with isolated Vitamin E Deficiency, q13.1-13.3, TTPA

JBTS6, q34.3, MKS3




9



RP31, p22-13, TOPORS

RP21, q34-ter

JBTS1, q34.3, INPP5E

SLSN, q31, NPHP2

USH2D, q32-34, Whirlin


ARMD10, q32-33, TLR4
10


Fundus Xerophthalmicus, q24, RBP4

ARRP, q11, PCDH21

ARRP, q11, RBP3

ARRD, q23.1-23.2, PCDH21

ADRP, ARRP,
q23, RGR

Refsum Disease, adult, pter-11.2, PAHX

Refsum Disease, adult with increased pipecolicacidemia, pter-11.2,

USH1F, q11.2-21, PCDH15

USH1D, q21-22, CDH23

USH1D/F digenic, q11.2-22, CDH23, PCDH15


ARMD5, q11, ERCC6

ARMD7, q26, HTRA1

ARMD8, q26, LOC387715


11
CLN2, p15.5, CLN2
OPA7, q14.1-21, TMEM126A
AA, p15, TEAD1

VMD2, ARB, ADVIRC , q12-13.1, BEST1


L-ORD, LOMD , q23.3, CTRP5

RP50, q12-13.1, BEST1

ADRP,
RP digenic, q13, ROM1

JBTS2, p12-q13.3

Mirophthalmia with posterior cataract, q23

USH1C, p14.3, USH1C

USH1B, q13.5, MyoVIIa
EVR3, p12-13

VRNI, q13


EVR1, q13-23, FZD4


EVR4, q13.2, LRP5

12


FA, q13-14, RDH5

STL, q13.11-13.13, COL2A1

JBTS5, SLSN6, q31, CEP290

Autosomal Dominant Rhegmatogenous Retinal Detachment, q13.11-13.13, COL2A1


WGN2, q13.11-13.2, COL2A1

13
CLN5, q21.1-32, CLN5

STGD2, q34
ARRP, q34, GRK1




14


MCDR4, q

RP27, ADRP/CMO,
RP,si, q11, NRL


RP16, q11-13.1

RP53, q23.3, RDH12

RP51, q32.1, TTC8


USH1A, q32,

ARMD3, q32.12, FBLN5
15
CLN6, q21-23, CLN6

ESCS, q23, NR2E3

NFRCD, RPA, BRD, q26, RLBP1

ARRP, q26, RLBP1
Severe Mental Retardation, Spasticity, and Tapetoretinal Degeneration, q24
USH1H, q22-23


16
CLN3 (JCNL), p12.1, CLN3
OPA8, q21-22


PXE, p13.1, ABCC6

HJMD, q22.1, CDH3

RP22, p12.3-12.1

ARRP, p13, CNGB1

FHASD, q23.2-24.2

JBTS7, q31, RPGRIP1L




17





CACD, p13-12

SPD, q24, RGS9

RP13, p13.3, PRPC8

RP36, q22, C2Y

RP17, q23, CA4


RP30, q25, FSCN2


USH1G, q24-25, SANS


18







OPA4, q12.2-3






19



OPA3, q13.2-3, OPA3

MCDR5, q13.31-32

SPD, q24, R9AP

ADRP, q13.3, CRX

RP11, q13.4, PRKCG

RP11a, q13.4, PRPF31




ARMD6, p13.3, QRX

ARMD9, p13.3-2, C3

20






ARRP, p13, IDH3B

ADRP, q13.33, PRPF6

AGS, p12, JAG1



21




USH1E, q21,


22

OPA5, q12.3
SFD, q12-13.2, TIMP3





X
OPA2, p11.4-11.21

CORD3 (RP15) , p22.13-22.11, RPGR

PRD, p11.3-11.23,

RS, p22.2, XLRS1

RP23, p22,

RP3, p21.1, RPGR

RP6, p21.3-21.2,


RP2, p11.3-11.22, RP2


RP24, q26.2-27.2

RP34, q28

ND, p11.4, NDP

OCRL, q25-26, OCRL1

JBTS10, p22.3-2, CXORF5

MTS, p22.1, TIMM8A


XEFVR, p11.3-11.23, NDP

mt

LHON, mitochondrial

KS, mitochondrial

NARP syndrome, mitochondrial, ATPase 6


Pigmentary Retinopathy and Sensorineural Deafness, mitochondrial, MTTH


Wolfram Syndrome (Diabetes insipidus, diabetes mellitus, optic atrophy and deafness), mitochondrial, mitochondrial 11778

Sensorineural Deafness with RP, mitochondrial, MTTS2


Remarks
digenic inheritance
Summary
6 Loci
6 Genes id.

10 Loci
4 Gene id.

48 Loci
31 Genes id.

67 Loci
57 Genes id.

49 Loci
42 Genes id.

15 Loci
13 Genes id.

911 Loci
8 Genes id.

13 Loci
13 Genes id.
     
Return to Retina International's Scientific Newsletter
Return to Databases
Return to pagehead