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

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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
Test material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
ADAMTSL43225NM_019032.6AR
ADAMTS103312NM_030957.4AR
ADAMTS173288NM_139057.4AR
CBS1656NM_000071.3AR
COL8A22112NM_005202.4AD
CPAMD85983NM_015692.5AR
CYP1B11632NM_000104.4AR
FBN18616NM_000138.5AD
FOXC11662NM_001453.3AD
FOXE3960NM_012186.3AD, AR
LTBP25466NM_000428.3AR
LTBP33912NM_001130144.3AD, AR
OVOL2832NM_021220.4AD
PAX61269NM_000280.5AD
PITX2816NM_153427.2AD
PITX3909NM_005029.4AD
PXDN4440NM_012293.3AR
SUOX1638NM_000456.3AR
ZEB13327NM_001128128.3AD

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

Bioinformatics and clinical interpretation

No text defined