ErkrankungKatarakt, Differentialdiagnose

NGS +

• Alias: Cataract
• Alias: Cataract combined with other eye anomalies
• Alias: Cataract-microcornea syndrome, included
• Allelic: 3-methylglutaconic aciduria, type III (OPA3)
• Allelic: Aniridia (PAX6)
• Allelic: Aortic aneurysm, familial thoracic 11, susceptibility to (FOXE3)
• Allelic: Ayme-Gripp syndrome (MAF)
• Allelic: Cardiomyopathy, dilated, 1II (CRYAB)
• Allelic: Cataract 11, multiple types (PTX3)
• Allelic: Cataract 11, syndromic, AR (PTX3)
• Allelic: Cataract with late-onset corneal dystrophy (PAX6)
• Allelic: Coloboma of optic nerve (PAX6)
• Allelic: Coloboma, ocular (PAX6)
• Allelic: Deafness, AD 37 (COL11A1)
• Allelic: Dent disease 2 (OCRL)
• Allelic: Fibrochondrogenesis 1 (COL11A1)
• Allelic: Foveal hypoplasia 1 (PAX6)
• Allelic: Keratitis (PAX6)
• Allelic: Lumbar disc herniation, susceptibility to (COL11A1)
• Allelic: Marbach-Rustad progeroid syndrome (LEMD2)
• Allelic: Microphthalmia, isolated 2 (VSX2)
• Allelic: Morning glory disc anomaly (PAX6)
• Allelic: Myofibrillar myopathy 11 (UNC45B)
• Allelic: Myopathy, myofibrillar, 2 (CRYAB)
• Allelic: Norum disease (LCAT)
• Allelic: Optic nerve hypoplasia (PAX6)
• Allelic: Spastic paraplegia 9A, AD (ALDH18A1)
• Allelic: Spastic paraplegia 9B, AR (ALDH18A1)
• Allelic: Stickler sydrome, type I, nonsyndromic ocular (COL2A1)
• Allelic: Stickler syndrome, type II (COL11A1)
• Allelic: Trichothiodystrophy 1, photosensitive (ERCC2)
• Allelic: Vitreoretinopathy with phalangeal epiphyseal dysplasia (COL2A1)
• Allelic: Xeroderma pigmentosum, group D (ERCC2)
• Peter's anomaly, microphthalmia, included
• Peters anomaly, included
• 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement, neutropenia (CLPB)
• 3-methylglutaconic aciduria, type VIII (HTRA2)
• Alzahrani-Kuwahara syndrome (SMG8)
• Anterior segment anomalies with/-out cataract (EYA1)
• Anterior segment dysgenesis 1, multiple subtypes (PITX)
• Anterior segment dysgenesis 1, multiple subtypes (PTX3)
• Anterior segment dysgenesis 2, multiple subtypes (FOXE3)
• Anterior segment dysgenesis 3, multiple subtypes (FOXC1)
• Anterior segment dysgenesis 5, multiple subtypes (PAX6)
• Anterior segment dysgenesis 7, with sclerocornea (PXDN)
• Axenfeld-Rieger syndrome, type 3 (FOXC1)
• Ayme-Gripp syndrome (MAF)
• Brain small vessel disease with/-out ocular anomalies (COL4A1)
• Branchiootorenal syndrome 1, with/-out cataracts (EYA1)
• CIMDAG s. [Cereb. hypopl., cataract, ID, cong. Microc., Dyst., dysery. Anemia, Growth ret.] (VPS4A)
• Cataract 1, multiple types (GJA8)
• Cataract 11, multiple types (PITX)
• Cataract 11, syndromic, AR (PITX)
• Cataract 14, multiple types (GJA3)
• Cataract 15, multiple types (MIP)
• Cataract 16, multiple types (CRYAB)
• Cataract 21, multiple types (MAF)
• Cataract 22 (CRYBB3)
• Cataract 23 (CRYBA4)
• Cataract 3, multiple types (CRYBB2)
• Cataract 34, multiple types (FOXE3)
• Cataract 38, AR (AGK)
• Cataract 40, XL (NHS)
• Cataract 41 (WFS1)
• Cataract 42 (CRYBA2)
• Cataract 43 (UNC45B)
• Cataract 45 (SIP1L3)
• Cataract 46, juvenile-onset (LEMD2)
• Cataract 47, juvenile, with microcornea (SLC16A12)
• Cataract 48 (DNMBP)
• Cataract 9, multiple types (CRYAA)
• Cataract due to abnormal sterol metabolism, AR [panelapp] (CYP51A1)
• Cataract pulverulent or cerulean with/-out microcornea (MAF)
• Cataract with late-onset corneal dystrophy (PAX6)
• Cataract, deafness, intellectual disability, seizures, Down syndr.-like facies; Ayme-Gripp s. (MAF)
• Cerebrooculofacioskeletal syndrome 2 (ERCC2)
• Cerebrotendinous xanthomatosis (CYP27A1)
• Congenital cataracts, facial dysmorphism, neuropathy (CTDP1)
• Congenital cataracts, hearing loss + neurodegeneration (SLC33A1)
• Congenital posterior cataract [panelapp] (PANK4)
• Cutis laxa, AD (ALDH18A1)
• Cutis laxa, AR, type IIIA (ALDH18A1)
• Deafness, cataract, impaired intellectual development + polyneuropathy (PSMC3)
• Exudative vitreoretinopathy 2, XL (NDP)
• Fish-eye disease (LCAT)
• Galactosemia (GALT)
• Gillespie syndrome, included Knobloch syndrome, type 1 (COL18A1)
• Hemorrhagic destruction of the brain, subependymal calcification + cataracts (JAM3)
• Hyperferritinemia-cataract syndrome (FTL)
• Ichthyosis, follicular, with atrichia + photophobia syndrome 2 (SREBF1)
• Kahrizi syndrome (SRD5A3)
• Leukodystrophy, hypomyelinating, 5 (FAM126A)
• Lowe syndrome (OCRL)
• Macrothrombocytopenia, granulocyte incl. with/-out nephritis, sensorineural hearing loss (MYH9)
• Mannosidosis, alpha-, types I, II (MAN2B1)
• Marinesco-Sjogren syndrome (SIL1)
• Marshall syndrome (COL11A1)
• Martsolf syndrome (RAB3GAP2)
• Microcephaly, congenital cataract, psoriasiform dermatitis (MSMO1)
• Microphthalmia with coloboma 3 (VSX2)
• Microphthalmia, syndromic 2 (BCOR)
• Mucoepithelial dysplasia, hereditary (SREBF1)
• Muscular dystrophy, congenital, cataracts + intellectual disability (INPP5K)
• Myopia, high, with cataract + vitreoretinal degeneration (P3H2)
• Nance-Horan syndrome (NHS)
• Neurofibromatosis, type 2 (NF2)
• Norrie disease (NDP)
• Norum disease (LCAT)
• Oculoauricular syndrome (HMX1)
• Optic atrophy 3 with cataract (OPA3)
• Peroxisomal fatty acyl-CoA reductase 1 disorder (FAR1)
• Peroxisome biogenesis disorders (PEX...)
• Peters-plus syndrome (B3GLCT)
• Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa + cataract (ABHD12)
• Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract (ADAMTS10)
• Rhizomelic chondrodysplasia punctata, type 2 (GNPAT)
• Rhizomelic chondrodysplasia punctata, type 3 (AGPS)
• Rothmund-Thomson syndrome, type 2 (RECQL4)
• Sengers syndrome (AGK)
• Smith-Lemli-Opitz syndrome (DHCR7)
• Sorbitol dehydrogenase deficiency with peripheral neuropathy (SORD)
• Spondyloocular syndrome (XYLT2)
• Stickler syndrome, type I (COL2A1)
• Triokinase + FMN cyclase deficiency syndrome (TKFC)
• Vici syndrome (EPG5)
• Warburg micro syndrome 1 (RAB3GAP1)
• Warburg micro syndrome 2 (RAB3GAP2)
• Warburg micro syndrome 3 (RAB18)
• Warburg micro syndrome 4 (TBC1D20)
• Werner syndrome (WRN)