Klinische FragestellungKatarakt, syndromisch; Differentialdiagnose

NGS +

[Sanger]

Heterogene Gruppe von Erkrankungen

• Alias: Cataract, syndromal
• Allelic: Adult i phenotype without cataract (GCNT2)
• Allelic: Blood group, Ii (GCNT2)
• Allelic: Cardiomyopathy, dilated, 1II (CRYAB)
• Allelic: Cataract 38, AR (AGK)
• Allelic: Deafness, autosomal dominant 37 (COL11A1)
• Allelic: Dent disease 2 (OCRL)
• Allelic: Epilepsy, idiopathic generalized, susceptibility to, 12 (SLC2A1)
• Allelic: Fibrochondrogenesis 1 (COL11A1)
• Allelic: Lumbar disc herniation, susceptibility to (COL11A1)
• Allelic: Myopathy, myofibrillar, 2 (CRYAB)
• Allelic: Premature ovarian insufficiency [panelapp] (PGRMC1)
• 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)
• Lysyl hydroxylase 3 deficiency (PLOD3)
• 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement, neutropenia (CLPB)
• 3-methylglutaconic aciduria, type VIII (HTRA2)
• AR cataract due to abnormal sterol metabolism [panelapp] (CYP51A1)
• Acromicric dysplasia (FBN1)
• Allelic: Pontocereb. hypoplasia, hypotonia, respiratory insufficiency s., neonatal lethal (ATAD3)
• Alopecia-mental retardation syndrome 4 (LSS)
• Alport syndrome 1, XL (COL4A5)
• Alport syndrome 1, XL (COL4A5)
• Alzahrani-Kuwahara syndrome: global developmental delay ID, poor/absent speech (SMG8)
• Anterior segment anomalies with/-out cataract (EYA1)
• Anterior segment dysgenesis 1, multiple subtypes (PITX)
• 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)
• Baralle-Macken syndrome: neurodevelopmental disorder, cataracts, var. microcephaly (COPB1)
• Brain small vessel disease with/-out ocular anomalies (COL4A1)
• Branchiooculofacial syndrome (TFAP2A)
• Branchiootorenal syndrome 1, with/-out cataracts (EYA1)
• CATIFA syndrome: cleft lip, cataract, tooth abnormality, ID, face dysmorph, ADHS (RIC1)
• CIMDAG syndr.: cereb. hypoplasia, cataract, ID, microceph., dystonia, anemia, red. growth (VPS4A)
• CODAS [cerebral, ocular, dental, auricular + skeletal anomalies] syndrome (LONP1)
• Cataract 1, multiple types (GJA8)
• Cataract 11, multiple types (PITX)
• Cataract 11, syndromic, AR (PITX)
• 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 19 (LIM2)
• Cataract 2, multiple types (CRYGC)
• Cataract 21, multiple types (MAF)
• Cataract 22 (CRYBB3)
• Cataract 23 (CRYBA4)
• Cataract 3, multiple types (CRYBB2)
• Cataract 34, multiple types (FOXE3)
• Cataract 40, X-linked (NHS)
• Cataract 41 (WFS1)
• Cataract 44 (LSS)
• Cataract 47, juvenile, with microcornea (SLC16A12)
• Cataract 48 (DNMBP1)
• Cataract 6, multiple types (EPHA2)
• Cataract 9, multiple types (CRYAA)
• Cataract with late-onset corneal dystrophy (PAX6)
• Cerebrooculofacioskeletal syndrome 2 (ERCC2)
• Cerebrotendinous xanthomatosis (CYP27A1)
• Cohen-Gibson syndrome (EED)
• Congenital cataracts, facial dysmorphism, neuropathy (CTDP1)
• Congenital cataracts, hearing loss + neurodegeneration (SLC33A1)
• Congenital disorder of glycosylation, type IIj (COG4)
• Craniolenticulosutural dysplasia (SEC23A)
• Cutis laxa, AD (ALDH18A1)
• Cutis laxa, AR, type IIIA (ALDH18A1)
• Dentici-Novelli neurodevelopmental syndrome (ZNF526)
• Developmental + epileptic encephalopathy 71 (GLS
• Dystonia 9 (SLC2A1)
• Ectopia lentis, familial (FBN1)
• Exudative vitreoretinopathy 2, XL (NDP)
• Fish-eye disease (LCAT)
• GLUT1 deficiency syndrome 1, infantile onset, severe (SLC2A1)
• GLUT1 deficiency syndrome 2, childhood onset (SLC2A1)
• Galactokinase deficiency with cataracts (GALK1)
• Galactosemia (GALT)
• Galactosemia IV (GALM)
• Geleophysic dysplasia 2 (FBN1)
• Glaucoma, primary closed-angle (COL18A1)
• Global developmental delay, progressive ataxia + elevated glutamine (GLS)
• Harel-Yoon syndrome (ATAD3)
• Hemorrhagic destruction of the brain, subependymal calcification, and cataracts (JAM3)
• Hyperferritinemia-cataract syndrome (FTL)
• Hypotrichosis 14 (LSS)
• ID, cataract; iris, ear, heart, skeletal + choanal morph., AKUT, seizures [panelapp] (CDK9)
• Ichthyosis, follicular, with atrichia + photophobia syndrome 2 (SREBF1)
• Infantile cataract, skin abnormalities, glutamate excess, impaired intellectual development (GLS)
• Intellectual developmental disorder, AD 7 (DYRK1A)
• Isolated paediatric cataract; Cataract [MONDO:0005129] [panelapp] (PGRMC1)
• Kahrizi syndrome: mental retardation, cataracts, coloboma, kyphosis, coarse face (SRD5A3)
• Knobloch syndrome, type 1 (COL18A1)
• Lathosterolosis (SC5D)
• Leukodystrophy, hypomyelinating, 5 (FAM126A)
• Leukoencephalopathy with vanishing white matter (EIF2B2)
• Lowe syndrome (OCRL)
• MASS syndrome (FBN1)
• Macrothrombocytopenia, granulocyte inclusions with/-out nephritis, sensorineural hearing loss (MYH9)
• Mannosidosis, alpha-, types I, II (MAN2B1)
• Marfan lipodystrophy syndrome (FBN1)
• Marfan syndrome (FBN1)
• 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)
• Mitochondrial DNA depletion syndrome 4B, Alpers + MNGIE types (POLG)
• Mitochondrial recessive ataxia syndrome, includes SANDO + SCAE (POLG)
• Mucoepithelial dysplasia, hereditary (SREBF1)
• Muscular dystrophy, congenital, cataracts + intellectual disability (INPP5K)
• Muscular dystrophy-dystroglycanopathy, cong. with ID, type B, 1 (POMT1)
• Muscular dystrophy-dystroglycanopathy, cong. with brain + eye anomalies, type A, 1 (POMT1)
• Muscular dystrophy-dystroglycanopathy, cong. with mental retardation, type B, 1 (POMT1)
• Muscular dystrophy-dystroglycanopathy, limb-girdle, type C, 1 (POMT1)
• Myopathy, mitochondrial progressive, congenital cataract, developmental delay (GFER)
• Myopia, high, cataract + vitreoretinal degeneration (P3H2)
• Myotonic dystrophy 1 (DMPK)
• Nance-Horan syndrome: cong. cataract, dental anomalies, dysmorphic features, in some cases ID (NHS)
• Neurodevelopmental disorder with cataracts, poor growth, dysmorphic facies (INTS1)
• Neurodevelopmental disorder with microcephaly, cataracts + renal abnormalities (GEMIN4)
• Neurodevelopmental disorder with spasticity, cataracts, cerebellar hypoplasia (MED27)
• Neurodevelopmental disorder, epilepsy, cataracts, feeding diff., delayed brain myelin. (NACC1)
• Neurofibromatosis, type 2 (NF2)
• Norrie disease (NDP)
• Norum disease (LCAT)
• Oculoauricular syndrome (HMX1)
• Oculoskeletodental syndrome (PIK3C2A)
• Optic atrophy 3 with cataract (OPA3)
• Ovarioleukodystrophy (EIF2B2)
• Peroxisomal fatty acyl-CoA reductase 1 disorder (FAR1)
• Peroxisome biogenesis disorders (PEX...)
• Peters-plus syndrome (B3GLCT)
• Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract (ABHD12)
• Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract (ADAMTS10)
• Progressive external ophthalmoplegia, AD 1 (POLG)
• Progressive external ophthalmoplegia, AR 1 (POLG)
• Rhizomelic chondrodysplasia punctata, type 2 (GNPAT)
• Rhizomelic chondrodysplasia punctata, type 3 (AGPS)
• Rothmund-Thomson syndrome, type 1 (ANAPC1)
• Rothmund-Thomson syndrome, type 2 (RECQL4)
• Sandestig-Stefanova s.: micro-, trigonoceph., cataract, microphth., face, camptodactyly... (NUP188)
• Saul-Wilson syndrome (COG4)
• Sengers syndrome (AGK)
• Smith-Lemli-Opitz syndrome (DHCR7)
• Sorbitol dehydrogenase deficiency with peripheral neuropathy (SORD)
• Spondyloocular syndrome (XYLT2)
• Stickler syndrome, type I (COL2A1)
• Stiff skin syndrome (FBN1)
• Stomatin-deficient cryohydrocytosis with neurologic defects (SLC2A1)
• Trichothiodystrophy 3, photosensitive (GTF2H5)
• 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)
• Weill-Marchesani syndrome 2, AD (FBN1)
• Weill-Marchesani syndrome 2, dominant (FBN1)
• Werner syndrome (WRN)