ErkrankungLebersche kongenitale Amaurose/Abiotrophie, Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Lebersche kongenitale Amaurose mit 4 bzw. 35 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
LP0140
Anzahl Gene
27
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
19,8 kb (Core-/Basis-Gene)
67,0 kb (Erweitertes Panel)
67,0 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 |
---|---|---|---|
CEP290 | 7440 | AR und/oder Dig | |
CRB1 | 4221 | AD und/oder AR | |
GUCY2D | 3312 | AD und/oder AR | |
RDH12 | 951 | AD und/oder AR | |
RPGRIP1 | 3861 | AR und/oder Ass | |
ADAMTS18 | 3666 | AR | |
AIPL1 | 1155 | AD und/oder AR | |
ALMS1 | 12504 | AR | |
CABP4 | 828 | AR | |
CRX | 900 | AD | |
GDF6 | 1368 | AD und/oder AR | |
IFT140 | 4389 | AR | |
IMPDH1 | 1800 | AD | |
IQCB1 | 1797 | AR | |
LCA5 | 2094 | AR | |
LRAT | 693 | AR | |
MERTK | 3000 | AR | |
NMNAT1 | 840 | AR | |
OTX2 | 870 | AD | |
POC1B | 1437 | AR | |
PRPH2 | 1041 | AD und/oder AR und/oder Dig | |
RD3 | 588 | AR | |
ROM1 | 1056 | AD und/oder Dig | |
SPATA7 | 1704 | AR | |
TUBB4B | 1342 |
| AD |
TULP1 | 1629 | AR | |
USP45 | 2510 | AR |
Infos zur Erkrankung
Klinischer Kommentar
Netzhautdystrophie mit Erblindung und Reaktionen auf elektrophysiologische Stimulation unterhalb der Schwelle, schwere Sehbehinderung im 1. Lebensjahr
Synonyme
- Alias: Amaurosis congenita of Leber, LCA
- Alias: Amaurosis, Leber congenital
- Alias: Congenital amaurosis of retinal origin
- Alias: Congenital retinal blindness
- Alias: Dysgenesis neuroepithelialis retinae
- Alias: Hereditary epithelial dysplasia of retina
- Alias: Hereditary retinal aplasia
- Alias: Heredoretinopathia congenitalis
- Alias: Leber abiotrophy
- Alias: Leber congenital tapetoretinal degeneration
- Alias: Retinal blindness, congenital
- Allelic: Bardet-Biedl syndrome 14 (CEP290)
- Allelic: Choroidal dystrophy, central areolar 1 (GUCY2D)
- Allelic: Choroidal dystrophy, central areolar 2 (PRPH2)
- Allelic: Cone-rod dystrophy 13 (RPGRIP1)
- Allelic: Cranioectodermal dysplasia 4 (WDR19)
- Allelic: Joubert syndrome 5 (CEP290)
- Allelic: Klippel-Feil syndrome 1, AD (GDF6)
- Allelic: Macular dystrophy, patterned, 1 (PRPH2)
- Allelic: Macular dystrophy, vitelliform, 3 (PRPH2)
- Allelic: Meckel syndrome 4 (CEP290)
- Allelic: Microphthalmia with coloboma 6, digenic (GDF6)
- Allelic: Microphthalmia, isolated 4 (GDF6)
- Allelic: Multiple synostoses syndrome 4 (GDF6)
- Allelic: Nephronophthisis 13 (WDR19)
- Allelic: Night blindness, congenital stationary, type 1I (GUCY2D)
- Allelic: Senior-Loken syndrome 6 (CEP290)
- Allelic: Short-rib thoracic dysplasia 5 with/-out polydactyly (WDR19)
- Allelic: Snowflake vitreoretinal degeneration (KCNJ13)
- Allelic: Spermatogenic failure 72 (WDR19)
- Cone-rod dystrophy (AIPL1)
- Cone-rod dystrophy 13 (RPGRIP1)
- Cone-rod dystrophy 6 (GUCY2D)
- Cone-rod retinal dystrophy 2 (CRX)
- Hypotaurinemic retinal degeneration + cardiomyopathy (SLC6A6)
- Leber congenital amaurosis 1 (GUCY2D)
- Leber congenital amaurosis 10 (CEP290)
- Leber congenital amaurosis 11 (IMPDH1)
- Leber congenital amaurosis 12 (RD3)
- Leber congenital amaurosis 13 (RDH12)
- Leber congenital amaurosis 14 (LRAT)
- Leber congenital amaurosis 15 (TULP1)
- Leber congenital amaurosis 16 (KCNJ13)
- Leber congenital amaurosis 18 (PRPH2)
- Leber congenital amaurosis 19 (USP45)
- Leber congenital amaurosis 2 (RPE65)
- Leber congenital amaurosis 3 (SPATA7)
- Leber congenital amaurosis 4 (AIPL1)
- Leber congenital amaurosis 5 (LCA5)
- Leber congenital amaurosis 6 (RPGRIP1)
- Leber congenital amaurosis 7 (CRX)
- Leber congenital amaurosis 8 (CRB1)
- Leber congenital amaurosis 9 (NMNAT1)
- Leber's amaurosis
- Nephronophthisis 15 (CEP164)
- Pigmented paravenous chorioretinal atrophy (CRB1)
- Retinal dystrophy, early-onset severe (LRAT)
- Retinitis pigmentosa 10 (IMPDH1)
- Retinitis pigmentosa 12 (CRB1)
- Retinitis pigmentosa 14 (TULP1)
- Retinitis pigmentosa 20 (RPE65)
- Retinitis pigmentosa 7 + digenic form (PRPH2)
- Retinitis pigmentosa 7, digenic form (ROM1)
- Retinitis pigmentosa 87 with choroidal involvement (RPE65)
- Retinitis pigmentosa, juvenile (AIPL1)
- Retinitis pigmentosa, juvenile (LRAT)
- Retinitis pigmentosa, juvenile, AR (SPATA7)
- Retinitis punctata albescens (PRPH2)
- Senior-Loken syndrome 8 (WDR19)
- Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developm. dis., LCA (NMNAT1)
Erbgänge, Vererbungsmuster etc.
- AD
- AD und/oder AR
- AD und/oder AR und/oder Dig
- AD und/oder Dig
- AR
- AR und/oder Ass
- AR und/oder Dig
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
H54.0
Bioinformatik und klinische Interpretation
Kein Text hinterlegt