ErkrankungKatarakt mit anderen Augenfehlbildungen, Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Katarakt plus andere Augenfehlbildungen (ohne weitere systemische Manifestationen) mit 8 bzw. 25 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
KP0017
Anzahl Gene
20
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
8,5 kb (Core-/Basis-Gene)
35,5 kb (Erweitertes Panel)
35,5 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
[Sanger]
Genpanel
Ausgewählte Gene
Name | Exon-Länge (bp) | OMIM-G | Erbgang |
---|---|---|---|
B3GLCT | 1497 | AR | |
CRYAA | 522 | AD und/oder AR | |
CRYBA4 | 591 | AD | |
FOXE3 | 960 | AD und/oder AR | |
GJA8 | 1302 | AD | |
MAF | 1212 | AD | |
PAX6 | 1269 | AD und/oder AR | |
VSX2 | 1086 | AR | |
BCOR | 5166 | XLD und/oder SMu | |
COL18A1 | 4560 | AR | |
CRYBB1 | 759 | AD und/oder AR | |
CRYBB2 | 618 | AD | |
CRYGC | 525 | AD | |
CRYGD | 525 | AD | |
DNMBP | 6032 | AR | |
LCAT | 1323 | AR | |
OPA3 | 540 | AD und/oder AR | |
P3H2 | 1584 | AR | |
PITX3 | 909 | AD und/oder AR | |
PXDN | 4440 | AR |
Infos zur Erkrankung
Klinischer Kommentar
Gruppe von heterogenen Erkrankungen
Synonyme
- Cataract pulverulent or cerulean with/-out microcornea
- Peter's anomaly, microphthalmia, included
- Peters anomaly, included
- Alias: Cataract combined with other eye anomalies
- Alias: Cataract-microcornea syndrome, included
- Allelic: 3-methylglutaconic aciduria, type III (OPA3)
- Allelic: Aniridia (PAX6)
- Allelic: Aortic aneurysm, familial thoracic 11, susceptibility to (FOXE3)
- Allelic: Ayme-Gripp syndrome (MAF)
- Allelic: Cataract 11, multiple types (PTX3)
- Allelic: Cataract 11, syndromic, AR (PTX3)
- Allelic: Cataract with late-onset corneal dystrophy (PAX6)
- Allelic: Coloboma of optic nerve (PAX6)
- Allelic: Coloboma, ocular (PAX6)
- Allelic: Foveal hypoplasia 1 (PAX6)
- Allelic: Keratitis (PAX6)
- Allelic: Microphthalmia, isolated 2 (VSX2)
- Allelic: Morning glory disc anomaly (PAX6)
- Allelic: Norum disease (LCAT)
- Allelic: Optic nerve hypoplasia (PAX6)
- Anterior segment dysgenesis 1, multiple subtypes (PTX3)
- Anterior segment dysgenesis 2, multiple subtypes (FOXE3)
- Anterior segment dysgenesis 5, multiple subtypes (PAX6)
- Anterior segment dysgenesis 7, with sclerocornea (PXDN)
- Cataract 1, multiple types (GJA8)
- Cataract 17, multiple types (CRYBB1)
- Cataract 2, multiple types (CRYGC)
- Cataract 21, multiple types (MAF)
- Cataract 23 (CRYBA4)
- Cataract 3, multiple types (CRYBB2)
- Cataract 34, multiple types (FOXE3)
- Cataract 4, multiple types (CRYGD)
- Cataract 48 (DNMBP)
- Cataract 9, multiple types (CRYAA)
- Fish-eye disease (LCAT)
- Knobloch syndrome, type 1 (COL18A1)
- Microphthalmia with coloboma 3 (VSX2)
- Microphthalmia, syndromic 2 (BCOR)
- Myopia, high, with cataract and vitreoretinal degeneration (P3H2)
- Optic atrophy 3 with cataract (OPA3)
- Peters-plus syndrome (B3GLCT)
Erbgänge, Vererbungsmuster etc.
- AD
- AD und/oder AR
- AR
- XLD und/oder SMu
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
H26.-
Bioinformatik und klinische Interpretation
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