English
Klinische FragestellungEctopia-lentis-[et-pupillae-]Syndrom, incl. minimaler Linsen-/Pupillenveränderungen
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Ectopia-lentis-et-pupillae-Syndrom, incl. minimaler Linsen-/Pupillenveränderungen mit zusammen genommen 19 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
EP9222
Anzahl Loci
| Locus-Typ | Anzahl |
|---|---|
| Gen | 19 |
Untersuchte Sequenzlänge
3,3 kb (Core-/Core-canditate-Gene)
55,1 kb (Erweitertes Panel: inkl. additional genes)
55,1 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Untersuchungsmaterial
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
Loci
Gen
| Name | Exon-Länge (bp) | OMIM-G | Referenz-Seq. | Erbgang |
|---|---|---|---|---|
| ADAMTSL4 | 3225 | NM_019032.6 | AR | |
| ADAMTS10 | 3312 | NM_030957.4 | AR | |
| ADAMTS17 | 3288 | NM_139057.4 | AR | |
| CBS | 1656 | NM_000071.3 | AR | |
| COL8A2 | 2112 | NM_005202.4 | AD | |
| CPAMD8 | 5983 | NM_015692.5 | AR | |
| CYP1B1 | 1632 | NM_000104.4 | AR | |
| FBN1 | 8616 | NM_000138.5 | AD | |
| FOXC1 | 1662 | NM_001453.3 | AD | |
| FOXE3 | 960 | NM_012186.3 | AD, AR | |
| LTBP2 | 5466 | NM_000428.3 | AR | |
| LTBP3 | 3912 | NM_001130144.3 | AD, AR | |
| OVOL2 | 832 | NM_021220.4 | AD | |
| PAX6 | 1269 | NM_000280.5 | AD | |
| PITX2 | 816 | NM_153427.2 | AD | |
| PITX3 | 909 | NM_005029.4 | AD | |
| PXDN | 4440 | NM_012293.3 | AR | |
| SUOX | 1638 | NM_000456.3 | AR | |
| ZEB1 | 3327 | NM_001128128.3 | AD |
Infos zur Erkrankung
Synonyme
- Ectopia lentis et pupillae (ADAMTSL4)
- Ectopia lentis, isolated, AR (ADAMTSL4)
- Allelic: Acromicric dysplasia (FBN1)
- Allelic: Foveal hypoplasia 1 (PAX6)
- Allelic: Geleophysic dysplasia 2 (FBN1)
- Allelic: Glaucoma 3, primary congenital, D (LTBP2)
- Allelic: MASS syndrome (FBN1)
- Allelic: Marfan lipodystrophy syndrome (FBN1)
- Allelic: Morning glory disc anomaly (PAX6)
- Allelic: Optic nerve hypoplasia (PAX6)
- Allelic: Stiff skin syndrome (FBN1)
- Allelic: Thrombosis, hyperhomocysteinemic (CBS)
- Aniridia (PAX6)
- Anterior segment dysgenesis 1, multiple subtypes (PITX3)
- Anterior segment dysgenesis 2, multiple subtypes (FOXE3)
- Anterior segment dysgenesis 3, multiple subtypes (FOXC1)
- Anterior segment dysgenesis 4 (PITX2)
- Anterior segment dysgenesis 5, multiple subtypes (PAX6)
- Anterior segment dysgenesis 6, multiple subtypes (CYP1B1)
- Anterior segment dysgenesis 7, with sclerocornea (PXDN)
- Anterior segment dysgenesis 8 (CPAMD8)
- Axenfeld-Rieger syndrome, type 1 (PITX2)
- Axenfeld-Rieger syndrome, type 3 (FOXC1)
- Cataract 11, multiple types (PITX3)
- Cataract 11, syndromic, AR (PITX3)
- Cataract 34, multiple types (FOXE3)
- Cataract with late-onset corneal dystrophy (PAX6)
- Coloboma of optic nerve (PAX6)
- Coloboma, ocular (PAX6)
- Corneal dystrophy, Fuchs endothelial, 1 (COL8A2)
- Corneal dystrophy, Fuchs endothelial, 6 (ZEB1)
- Corneal dystrophy, posterior polymorphous 2 (COL8A2)
- Corneal dystrophy, posterior polymorphous, 1 (OVOL2)
- Corneal dystrophy, posterior polymorphous, 3 (ZEB1)
- Ectopia lentis, familial (FBBN1)
- Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset (CYP1B1)
- Homocystinuria, B6-responsive + nonresponsive types (CBS)
- Hyperlysinemia (AASS)
- Keratitis (PAX6)
- Marfan syndrome (FBN1)
- Microspherophakia and/or megalocornea, with ectopia lentis with/-out secondary glaucoma (LTBP2)
- Ring dermoid of cornea (PITX2)
- Sulfite oxidase deficiency (SUOX)
- Weill-Marchesani syndrome 1, AR (ADAMTS10)
- Weill-Marchesani syndrome 2, AD (FBN1)
- Weill-Marchesani syndrome 3, AR (LTBP2)
- Weill-Marchesani syndrome 4, AR (ADAMTA17)
Erbgänge, Vererbungsmuster etc.
- AD
- AR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatik und klinische Interpretation
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