ErkrankungAchromatopsie, Differentialdiagnose
Zusammenfassung
Kurzinformation
Ein kuratiertes panel zur umfassenden Untersuchung von praktisch allen bekannten genetisch bedingten Störungen der Achromatopsie; Mutationen in 6 bzw. insgesamt 35 Genen erfassen die weitaus häufigsten Mutationen.
ID
AP0060
Anzahl Gene
35
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
10,5 kb (Core-/Basis-Gene)
84,7 kb (Erweitertes Panel)
84,7 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
Genpanel
Ausgewählte Gene
Name | Exon-Länge (bp) | OMIM-G | Erbgang |
---|---|---|---|
ATF6 | 2013 | AR | |
CNGA3 | 2085 | AR | |
CNGB3 | 2430 | AR | |
GNAT2 | 1065 | AR | |
PDE6C | 2577 | AR | |
PDE6H | 252 | AD und/oder AR | |
ABCA4 | 6822 | AR | |
ADAM9 | 2460 | AR | |
AIPL1 | 1155 | AD und/oder AR | |
ALMS1 | 12504 | AR | |
BEST1 | 1758 | AD und/oder AR | |
CABP4 | 828 | AR | |
CACNA1F | 5934 | XL | |
CACNA2D4 | 3414 | AR | |
CDHR1 | 2580 | AR | |
CEP290 | 7440 | AR und/oder Dig | |
CFAP418 | 624 | AR | |
CNGB1 | 900 | AR | |
CNNM4 | 2328 | AR | |
GUCA1A | 606 | AD | |
GUCY2D | 3312 | AD und/oder AR | |
KCNV2 | 1638 | AR | |
OPN1LW | 1095 | XLR | |
OPN1MW | 1095 | XL | |
OPN1SW | 1047 | AD | |
PROM1 | 2598 | AD und/oder AR | |
RAB28 | 663 | AR | |
RAX2 | 555 | AD | |
RBP4 | 606 | AD und/oder AR | |
RDH5 | 957 | AD und/oder AR | |
RGS9 | 2025 | AR | |
RPGR | 2448 | XL | |
RPGRIP1 | 3861 | AR und/oder Ass | |
SEMA4A | 2286 | AD und/oder AR | |
UNC119 | 723 | AD |
Infos zur Erkrankung
Klinischer Kommentar
Farbenblindheit, Nystagmus, Photophobie, erheblich reduzierter Sehschärfe, da die Zapfenfunktion fehlt oder eingeschränkt ist
Synonyme
- Alias: Achromatopsia, ACHM; Total color blindness
- Alias: Complete or incomplete color blindness
- Allelic: Aland Island eye disease (CACNA1F)
- Allelic: Bardet-Biedl syndrome 14 (CEP290)
- Allelic: Bardet-Biedl syndrome 21 (C8orf37)
- Allelic: Bestrophinopathy, AR (BEST1)
- Allelic: Choroidal dystrophy, central areolar 1 (GUCY2D)
- Allelic: Fundus flavimaculatus (ABCA4)
- Allelic: Leber congenital amaurosis 1 (GUCY2D)
- Allelic: Leber congenital amaurosis 10 (CEP290)
- Allelic: Leber congenital amaurosis 4 (AIPL1)
- Allelic: Macular degeneration, age-related, 2 (ABCA4)}
- Allelic: Macular degeneration, age-related, 6 (RAX2)
- Allelic: Macular dystrophy, retinal, 2 (PROM1)
- Allelic: Macular dystrophy, vitelliform, 2 (BEST1)
- Allelic: Meckel syndrome 4 (CEP290)
- Allelic: Microcornea, rod-cone dystrophy, cataract + posterior staphyloma 2 (BEST1)
- Allelic: Microphthalmia, isolated, with coloboma 10 (RBP4)
- Allelic: Night blindness, congenital stationary, incomplete, 2A, XL (CACNA1F)
- Allelic: Night blindness, congenital stationary, type 1I (GUCY2D)
- Allelic: Senior-Loken syndrome 6 (CEP290)
- Allelic: Stargardt disease 1 (ABCA4)
- Allelic: Stargardt disease 4 (PROM1)
- Allelic: Vitreoretinochoroidopathy (BST1)
- Achromatopsia 1 - see Achromatopsia 3 (CNGB3)
- Achromatopsia 2, Rod monochromatism 2 (CNGA3)
- Achromatopsia 3, Pingelapese blindness (CNGB3)
- Achromatopsia 4 (GNAT2)
- Achromatopsia 5 (PDE6C)
- Achromatopsia 6 (PDE6H)
- Achromatopsia 7 (ATF6)
- Alias: Achromatism
- Alias: Rod monochromatism
- Alias: Total color blindness
- Allelic: Immunodeficiency 13 (UNC119)
- Allelic: Leber congenital amaurosis 6 (RPGRIP1)
- Allelic: Macular degeneration, XL atrophic (RPGR)
- Alstrom syndrome (ALMS1)
- Blue cone monochromacy (OPN1LW)
- Blue cone monochromacy (OPN1MW)
- Bradyopsia (RGS9)
- Colorblindness, deutan (OPN1MW)
- Colorblindness, protan (OPN1LW)
- Colorblindness, tritan (OPN1SW)
- Cone dystrophy 4 (PDE6C)
- Cone dystrophy-3 (GUCA1A)
- Cone-rod dystrophy (AIPL1)
- Cone-rod dystrophy (UNC119)
- Cone-rod dystrophy 10 (SEMA4A)
- Cone-rod dystrophy 11 (RAX2)
- Cone-rod dystrophy 12 (PROM1)
- Cone-rod dystrophy 13 (RPGRIP1)
- Cone-rod dystrophy 14 (GUCA1A)
- Cone-rod dystrophy 15 (CDHR1)
- Cone-rod dystrophy 16 (C8orf37)
- Cone-rod dystrophy 18 (RAB28)
- Cone-rod dystrophy 3 (ABCA4)
- Cone-rod dystrophy 6 (GUCY2D)
- Cone-rod dystrophy 9 (ADAM9)
- Cone-rod dystrophy, XL, 1 (RPGR)
- Cone-rod dystrophy, XL, 3 (CACNA1F)
- Cone-rod synaptic disorder, congenital nonprogressive (CABP4)
- Fundus albipunctatus (RDH5)
- Jalili syndrome (CNNM4)
- Joubert syndrome 5 (CEP290)
- Retinal cone dystrophy 3 (PDE6H)
- Retinal cone dystrophy 3B (KCNV2)
- Retinal cone dystrophy 4 (CACNA2D4)
- Retinal dystrophy, early-onset severe (ABCA4)
- Retinal dystrophy, iris coloboma + comedogenic acne syndrome (RBP4)
- Retinitis pigmentosa 19 (ABCA4)
- Retinitis pigmentosa 3 (RPGR)
- Retinitis pigmentosa 35 (SEMA4A)
- Retinitis pigmentosa 41 (PROM1)
- Retinitis pigmentosa 45 (CNGB1)
- Retinitis pigmentosa 50 (BEST1)
- Retinitis pigmentosa 64 (C8orf37)
- Retinitis pigmentosa 65 (CDHR1)
- Retinitis pigmentosa, XL, + sinorespiratory infections +/- deafness (RPGR)
- Retinitis pigmentosa, concentric (BEEST1)
- Retinitis pigmentosa, juvenile (AIPL1)
Erbgänge, Vererbungsmuster etc.
- AD
- AD und/oder AR
- AR
- AR und/oder Ass
- AR und/oder Dig
- XL
- XLR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
H53.5
Bioinformatik und klinische Interpretation
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