Klinische FragestellungKatarakt, kongenital; Differentialdiagnose

KP9274_DH

illness_ClinicalComment_KP9274

• Alias: Cataract, congenital
• Allelic: Adult i phenotype without cataract (GCNT2)
• Allelic: Ayme-Gripp syndrome (MAF)
• Allelic: Branchiootic syndrome 1 (EYA1)
• Allelic: Branchiootorenal syndrome 1, +/- cataracts (EYA1)
• Allelic: Deafness, AD (WFS1)
• Allelic: Isolated paediatric cataract [panelapp] (PGRMC1)
• Allelic: Leukodystrophy, hypomyelinating, 5 (HYCC1)
• Allelic: Nance-Horan syndrome (NHS)
• Allelic: Orofacial cleft 11 (BMP4)
• Allelic: Sengers syndrome (AGK)
• Allelic: Spastic paraplegia 42, AD (SLC33A1)
• Allelic: Wolfram syndrome 1 (WFS1)
• Allelic: Wolfram-like syndrome, AD (WFS1)
• Anterior segment anomalies +/- cataract (EYA1)
• Anterior segment dysgenesis 1, multiple subtypes (PITX3)
• Anterior segment dysgenesis 2, multiple subtypes (FOXE3)
• Anterior segment dysgenesis 5, multiple subtypes (PAX6)
• Anterior segment dysgenesis 7, with sclerocornea (PXDN)
• Brain small vessel disease +/- ocular anomalies (COL4A1)
• Cataract 1, multiple types (GJA8)
• Cataract 10, multiple types (CRYBA1)
• Cataract 11, multiple types (PITX3)
• Cataract 11, syndromic, AR (PITX3)
• Cataract 12, multiple types (BFSP2)
• Cataract 13 with adult i phenotype (GCNT2)
• Cataract 14, multiple types (GJA3)
• Cataract 15, multiple types (MIP)
• Cataract 16, multiple types (CRYAB)
• Cataract 17, multiple types (CRYBB1)
• Cataract 18, AR (FYCO1)
• Cataract 19, multiple types (LIM2)
• Cataract 2, multiple types (CRYGC)
• Cataract 20, multiple types (CRYGS)
• Cataract 21, multiple types (MAF)
• Cataract 22 (CRYBB3)
• Cataract 23 (CRYBA4)
• Cataract 3, multiple types (CRYBB2)
• Cataract 30, pulverulent (VIM)
• Cataract 33, multiple types (BFSP1)
• Cataract 34, multiple types (FOXE32)
• Cataract 36 (TDRD7)
• Cataract 38, AR (AGK)
• Cataract 39, multiple types, AD (CRYGB)
• Cataract 4, multiple types (CRYGD)
• Cataract 40, XL (NHS)
• Cataract 41 (WFS1)
• Cataract 48 (DNMBP1)
• Cataract 49 (PANK4)
• Cataract 5, multiple types (HSF4)
• Cataract 6, multiple types (EPHA2)
• Cataract 9, multiple types (CRYAA)
• Cataract [MONDO:0005129, panelapp] (PGRMC1)
• Cataract with late-onset corneal dystrophy (PAX6)
• Cataract, congenital [panelapp] (CDK9)
• Cataracts [panelapp] (NECTIN3)
• Congenital cataracts, facial dysmorphism, neuropathy (CTDP1)
• Congenital cataracts, hearing loss, neurodegeneration (SLC33A1)
• Congenital muscular dystrophy overlapping Marinesco-Sjogren s. + dystroglycanopathy (INPP5K)
• Hemorrhagic destruction of the brain, subependymal calcification + cataracts (JAM3)
• Hyperferritinemia-cataract syndrome (FTL)
• Hypomyelination + congenital cataract [panelapp] (HYCC1)
• Marinesco-Sjogren syndrome (SIL1)
• Microcephaly, congenital cataract, psoriasiform dermatitis (MSMO1)
• Microphthalmia, syndromic 6 (BMP4)
• Muscular dystrophy, congenital, cataracts; intellectual disability (INPP5K)
• Myopathy, mitochondrial progressive, congenital cataract, developmental delay (GFER)