©istock.com/Andrea Obzerova
Interdisziplinäre KompetenzMolekulare Diagnostik
Know how bei der Analyse von Erbmaterial.
Zum Wohle von Patienten.

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)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
BFSP11998AD und/oder AR
BFSP21248AD
COL4A15010AD und/oder Mult
CRYAA522AD und/oder AR
CRYAB528AD
CRYBB1759AD und/oder AR
CRYBB2618AD
CRYBB3636AD und/oder AR
CRYGC525AD
CRYGD525AD
FOXE3960AD und/oder AR
GJA31308AD
GJA81302AD
ABHD121197AR
ADAMTS103312AR
AGK1269AR
AGPS1977AR
ALDH18A12388AD und/oder AR
ANAPC15835AR
ATAD3A1761AD und/oder AR
B3GLCT1497AR
BCOR5166XLD und/oder SMu
CHMP4B675AD
CLPB2034AR
COG42295AD und/oder AR
COL11A15421AD und/oder AR
COL18A14560AR
COL2A14464AD
COPB12883AR
CRYBA1648AD
CRYBA2594AD
CRYBA4591AD
CRYGB528AD
CRYGS537AD
CTDP12529AR
CYP27A11596AR
CYP51A11540AR
DHCR71428AR
DNMBP6032AR
DYRK1A2292AD
EED2100AD und/oder Impr
EIF2B21056AR
EPG57740AR
EPHA22931AD
ERCC22283AR
ERCC32349AR
ERCC64482AD und/oder AR und/oder SMu und/oder Sus
ERCC81191AR und/oder Sus
EYA11779AD
FAM126A1566AR
FAR11548AR
FOXC11662AD und/oder Dig und/oder SMu und/oder Sus
FTL528AD und/oder AR
FYCO14437AR
GALK11179AR
GALM1069AR
GALT1140AR und/oder Dig
GCNT21203AD und/oder AR
GEMIN43177AR
GFER618AR
GLS1797AD und/oder AR
GNPAT2043AR
GTF2H5216AR
HMX11047AR
HSF41389AD
HTRA21377AR und/oder Sus
INPP5K1119AR
INTS16843AR
JAM3780AR
LCAT1323AR
LEMD21738AD und/oder AR
LIM2648AR
LONP12688AR
LSS2303AR
MAF1212AD
MAN2B13036AR
MED271160AR
MIP792AD
MSMO1489AR
MYH95883AD
NACC11589AD
NDP402XLR
NF21788AD
NHS4425XL
NUP1885294AR
OCRL2706XLR
OPA3540AD und/oder AR
P3H21584AR
PANK42378AD
PAX61269AD und/oder AR
PEX13852AR
PEX101041AR
PEX11B780AR
PEX121080AR
PEX131212AR
PEX141134AR
PEX161011AR
PEX19900AR
PEX2918AR
PEX26918AR
PEX31122AR
PEX51920AR
PEX62943AD und/oder AR
PEX7972AR
PGRMC1588XLR
PIK3C2A5093AR
PITX3909AD und/oder AR
PLOD32217AR
POLG3720AD und/oder AR
PSMC31501AR
PXDN4440AR
RAB18621AR
RAB3GAP12946AR
RAB3GAP24182AR
RECQL43628AR
RIC13498AR
SC5D900AR
SIL11386AR
SIPA1L35366AR
SLC16A121551AD
SLC2A11479AD und/oder AR
SLC33A11650AD und/oder AR
SMG82988AR
SORD1074AR
SRD5A3957AR
SREBF13534AD
TBC1D201212AR
TDRD73297AR
TFAP2A1296AD
TKFC2102AR
UNC45B2790AD
VIM1401AD
VPS4A1325AD
VSX21086AR
WFS12673AD und/oder AR
WRN4299AR
XYLT22598AR
ZNF5262013AR

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

Kein Text hinterlegt