IllnessAniridia, differential diagnosis
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)
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
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