Klinische FragestellungWAGR-/WAGRO-Syndrom, Differentialdiagnose

NGS +

[Sanger]

Komplexe angeborene Entwicklungsstörungen mit geistiger Behinderung + Risiko für Wilmstumor

• WAGRO syndrome: WAGR syndrome + Obesity; (WT1, PAX6 + BDNF deletion in addition)
• Microscopic/submicroscopic chromosomal deletion 11p13 (WT1 + PAX6)
• Alias: WAGR syndrome - 11p13 deletion syndrome
• Alias: WAGR syndrome: Wilms tumor, Aniridia, Genitourinary anomalies, mental Retardation
• Alias: WAGRO syndrome - 11p13-p12 deletion syndrome
• Alias: Wilms tumor-Aniridia-Genitourinary anomalies-Retardation/intellectual disability syndrome
• Allelic: Anterior segment dysgenesis 5, multiple subtypes (PAX6)
• Allelic: Cataract 11, multiple types (PITX3)
• Allelic: Cataract 11, syndromic, AR (PITX3)
• Allelic: Denys-Drash syndrome (WT1)
• 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)
• Albinism, oculocutaneous, type IV (SLC45A2)
• Aniridia (PAX6)
• Anterior segment dysgenesis 1, multiple subtypes (PITX3)
• Anterior segment dysgenesis 3, multiple subtypes (FOXC1)
• Anterior segment dysgenesis 4 (PITX2)
• Axenfeld-Rieger syndrome, type 1 (PITX2)
• Axenfeld-Rieger syndrome, type 3 (FOXC1)
• Gillespie syndrome: aniridia, cerebellar ataxia, mental retardation (ITPR1)
• PAX6-related aniridia (PAX6)
• Wilms tumor, type 1 (WT1)