©istock.com/Andrea Obzerova
Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessAphakie, kongenitale primäre; Differentialdiagnose

Request form illness

Summary

Short information

A curated panel containing 3 genes for the comprehensive analysis of the genetically caused forms of congenital primary aphakia

ID
AP0850
Number of genes
2 Accredited laboratory test
Examined sequence length
2,3 kb (Core-/Core-canditate-Genes)
- (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-GReferenz-Seq.Heredity
FOXE3960NM_012186.3AR
TFAP2A1296NM_001032280.3AD

Informations about the disease

Clinical Comment

Absence of the lens, can be associated with variable secondary ocular defects

 

Synonyms
  • Alias: Congenital primary aphakia, CPA
  • Allelic: Cardiomyopathy, dilated, 1II (CRYAB)
  • Allelic: Cataract 11, multiple types (PITX3)
  • Allelic: Cataract 11, syndromic, AR (PITX3)
  • Allelic: Cataract 34, multiple types (FOXE3)
  • Allelic: Hemangiomatous branchial clefts-lip pseudocleft syndrome (TFAP2A)
  • Allelic: Myopathy, myofibrillar, 2 (CRYAB)
  • Allelic: Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related (CRYAB)
  • Anterior segment dysgenesis 1, multiple subtypes (PITX3)
  • Anterior segment dysgenesis 2, multiple subtypes (FOXE3)
  • BOF syndrome + ocular anomalies: microphthalmia, lacrimal duct obstruction (TFAP2A)
  • Branchiooculofacial [BOF] syndrome (TFAP2A)
  • Cataract 16, multiple types (CRYAB)
Heredity, heredity patterns etc.
  • AD
  • AR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined