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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
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IllnessAniridia, differential diagnosis

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Summary

Short information

A curated panel containing 8 genes for the comprehensive analysis of the genetically caused forms of aniridia

ID
AP4321
Number of genes
7 Accredited laboratory test
Examined sequence length
13,2 kb (Core-/Core-canditate-Genes)
15,1 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

[Sanger]

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GHeredity
ELP41275AD
FOXC11662AD
ITPR18088AD, AR
PAX61269AD
PITX2816AD
PITX3909AD
TRIM441040AR

Informations about the disease

Clinical Comment

Congenital bilateral ocular malformation, complete or partial absence of the iris

Group of disorders

ORPHA:250923 Isolated aniridia

ORPHA:98557 Syndromic aniridia

 

Synonyms
  • Alias: Complete or partial absence of the iris
  • Allelic: Albinism, oculocutaneous, type IV (SLC45A2)
  • Allelic: Cataract 11, multiple types (PITX3)
  • Allelic: Cataract 11, syndromic, AR (PITX3)
  • 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: Morning glory disc anomaly (PAX6)
  • Allelic: Optic nerve hypoplasia (PAX6)
  • Allelic: Ring dermoid of cornea (PITX2)
  • Allelic: Skin/hair/eye pigmentation 5, black/nonblack hair (SLC45A2)
  • Allelic: Skin/hair/eye pigmentation 5, dark/fair skin (SLC45A2)
  • Allelic: Skin/hair/eye pigmentation 5, dark/light eyes (SLC45A2)
  • Allelic: Spinocerebellar ataxia 15 (ITPR1)
  • Allelic: Spinocerebellar ataxia 29, congenital nonprogressive (ITPR1)
  • Aniridia (PAX6)
  • Aniridia 2 (ELP4)
  • Aniridia 3 (TRIM44)
  • Anterior segment dysgenesis 1, multiple subtypes (PITX3)
  • Anterior segment dysgenesis 3, multiple subtypes (FOXC1)
  • Anterior segment dysgenesis 4 (PITX2)
  • Anterior segment dysgenesis 5, multiple subtypes (PAX6)
  • Axenfeld-Rieger syndrome, type 1 (PITX2)
  • Axenfeld-Rieger syndrome, type 3 (FOXC1)
  • Gillespie syndrome [aniridia, cerebellar ataxia, mental retardation] (ITPR1)
Heredity, heredity patterns etc.
  • AD
  • AR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
Q13.1

Bioinformatics and clinical interpretation

No text defined