ErkrankungKatarakt, Differentialdiagnose
Zusammenfassung
Kurzinformation
Ein kuratiertes panel mit 138 Genen zur umfassenden Untersuchung von praktisch allen bekannten genetisch bedingten Katarakt-Formen
ID
KP8822
Anzahl Gene
138
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
16,0 kb (Core-/Basis-Gene)
285,1 kb (Erweitertes Panel)
285,1 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
Genpanel
Ausgewählte Gene
Name | Exon-Länge (bp) | OMIM-G | Erbgang |
---|---|---|---|
BFSP1 | 1998 | AD und/oder AR | |
BFSP2 | 1248 | AD | |
COL4A1 | 5010 | AD und/oder Mult | |
CRYAA | 522 | AD und/oder AR | |
CRYAB | 528 | AD | |
CRYBB1 | 759 | AD und/oder AR | |
CRYBB2 | 618 | AD | |
CRYBB3 | 636 | AD und/oder AR | |
CRYGC | 525 | AD | |
CRYGD | 525 | AD | |
FOXE3 | 960 | AD und/oder AR | |
GJA3 | 1308 | AD | |
GJA8 | 1302 | AD | |
ABHD12 | 1197 | AR | |
ADAMTS10 | 3312 | AR | |
AGK | 1269 | AR | |
AGPS | 1977 | AR | |
ALDH18A1 | 2388 | AD und/oder AR | |
ANAPC1 | 5835 | AR | |
ATAD3A | 1761 | AD und/oder AR | |
B3GLCT | 1497 | AR | |
BCOR | 5166 | XLD und/oder SMu | |
CHMP4B | 675 | AD | |
CLPB | 2034 | AR | |
COG4 | 2295 | AD und/oder AR | |
COL11A1 | 5421 | AD und/oder AR | |
COL18A1 | 4560 | AR | |
COL2A1 | 4464 | AD | |
COPB1 | 2883 | AR | |
CRYBA1 | 648 | AD | |
CRYBA2 | 594 | AD | |
CRYBA4 | 591 | AD | |
CRYGB | 528 | AD | |
CRYGS | 537 | AD | |
CTDP1 | 2529 | AR | |
CYP27A1 | 1596 | AR | |
CYP51A1 | 1540 | AR | |
DHCR7 | 1428 | AR | |
DNMBP | 6032 | AR | |
DYRK1A | 2292 | AD | |
EED | 2100 | AD und/oder Impr | |
EIF2B2 | 1056 | AR | |
EPG5 | 7740 | AR | |
EPHA2 | 2931 | AD | |
ERCC2 | 2283 | AR | |
ERCC3 | 2349 | AR | |
ERCC6 | 4482 | AD und/oder AR und/oder SMu und/oder Sus | |
ERCC8 | 1191 | AR und/oder Sus | |
EYA1 | 1779 | AD | |
FAM126A | 1566 | AR | |
FAR1 | 1548 | AR | |
FOXC1 | 1662 | AD und/oder Dig und/oder SMu und/oder Sus | |
FTL | 528 | AD und/oder AR | |
FYCO1 | 4437 | AR | |
GALK1 | 1179 | AR | |
GALM | 1069 | AR | |
GALT | 1140 | AR und/oder Dig | |
GCNT2 | 1203 | AD und/oder AR | |
GEMIN4 | 3177 | AR | |
GFER | 618 | AR | |
GLS | 1797 | AD und/oder AR | |
GNPAT | 2043 | AR | |
GTF2H5 | 216 | AR | |
HMX1 | 1047 | AR | |
HSF4 | 1389 | AD | |
HTRA2 | 1377 | AR und/oder Sus | |
INPP5K | 1119 | AR | |
INTS1 | 6843 | AR | |
JAM3 | 780 | AR | |
LCAT | 1323 | AR | |
LEMD2 | 1738 | AD und/oder AR | |
LIM2 | 648 | AR | |
LONP1 | 2688 | AR | |
LSS | 2303 | AR | |
MAF | 1212 | AD | |
MAN2B1 | 3036 | AR | |
MED27 | 1160 | AR | |
MIP | 792 | AD | |
MSMO1 | 489 | AR | |
MYH9 | 5883 | AD | |
NACC1 | 1589 | AD | |
NDP | 402 | XLR | |
NF2 | 1788 | AD | |
NHS | 4425 | XL | |
NUP188 | 5294 | AR | |
OCRL | 2706 | XLR | |
OPA3 | 540 | AD und/oder AR | |
P3H2 | 1584 | AR | |
PANK4 | 2378 | AD | |
PAX6 | 1269 | AD und/oder AR | |
PEX1 | 3852 | AR | |
PEX10 | 1041 | AR | |
PEX11B | 780 | AR | |
PEX12 | 1080 | AR | |
PEX13 | 1212 | AR | |
PEX14 | 1134 | AR | |
PEX16 | 1011 | AR | |
PEX19 | 900 | AR | |
PEX2 | 918 | AR | |
PEX26 | 918 | AR | |
PEX3 | 1122 | AR | |
PEX5 | 1920 | AR | |
PEX6 | 2943 | AD und/oder AR | |
PEX7 | 972 | AR | |
PGRMC1 | 588 | XLR | |
PIK3C2A | 5093 | AR | |
PITX3 | 909 | AD und/oder AR | |
PLOD3 | 2217 | AR | |
POLG | 3720 | AD und/oder AR | |
PSMC3 | 1501 | AR | |
PXDN | 4440 | AR | |
RAB18 | 621 | AR | |
RAB3GAP1 | 2946 | AR | |
RAB3GAP2 | 4182 | AR | |
RECQL4 | 3628 | AR | |
RIC1 | 3498 | AR | |
SC5D | 900 | AR | |
SIL1 | 1386 | AR | |
SIPA1L3 | 5366 | AR | |
SLC16A12 | 1551 | AD | |
SLC2A1 | 1479 | AD und/oder AR | |
SLC33A1 | 1650 | AD und/oder AR | |
SMG8 | 2988 | AR | |
SORD | 1074 | AR | |
SRD5A3 | 957 | AR | |
SREBF1 | 3534 | AD | |
TBC1D20 | 1212 | AR | |
TDRD7 | 3297 | AR | |
TFAP2A | 1296 | AD | |
TKFC | 2102 | AR | |
UNC45B | 2790 | AD | |
VIM | 1401 | AD | |
VPS4A | 1325 | AD | |
VSX2 | 1086 | AR | |
WFS1 | 2673 | AD und/oder AR | |
WRN | 4299 | AR | |
XYLT2 | 2598 | AR | |
ZNF526 | 2013 | AR |
Infos zur Erkrankung
Synonyme
- 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)
Erbgänge, Vererbungsmuster etc.
- AD
- AD und/oder AR
- AD und/oder AR und/oder SMu und/oder Sus
- AD und/oder Dig und/oder SMu und/oder Sus
- AD und/oder Impr
- AD und/oder Mult
- AR
- AR und/oder Dig
- AR und/oder Sus
- XL
- XLD und/oder SMu
- XLR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
H26.-
Bioinformatik und klinische Interpretation
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