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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessEctopia-lentis-[et-pupillae-]Syndrom, incl. minimaler Linsen-/Pupillenveränderungen

Summary

Short information

Comprehensive differential diagnostic panel for Ectopia-lentis-et-pupillae syndrome, incl. minimal lens/pupillae changes comprising altogether 19 curated genes according to the clinical signs

ID
EP9222
Number of genes
19 Accredited laboratory test
Examined sequence length
3,3 kb (Core-/Core-canditate-Genes)
55,1 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GHeredity
ADAMTSL43225AR
ADAMTS103312AR
ADAMTS173288AR
CBS1656AR
COL8A22112AD
CPAMD85983AR
CYP1B11632AR
FBN18616AD
FOXC11662AD
FOXE3960AD, AR
LTBP25466AR
LTBP33912AD, AR
OVOL2832AD
PAX61269AD
PITX2816AD
PITX3909AD
PXDN4440AR
SUOX1638AR
ZEB13327AD

Informations about the disease

Synonyms
  • 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)
Heredity, heredity patterns etc.
  • AD
  • AR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
Q12.1

Bioinformatics and clinical interpretation

No text defined