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ErkrankungKatarakt, syndromisch; Differentialdiagnose

Zusammenfassung

Kurzinformation

Ein kuratiertes panel mit 97 Genen zur umfassenden Untersuchung von praktisch allen bekannten genetisch bedingten, syndromischen Katarakt-Entitäten

ID
KP0010
Anzahl Gene
120 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
0,0 kb (Core-/Basis-Gene)
266,6 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

[Sanger]

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
ABHD121197AR
ADAMTS103312AR
AGK1269AR
AGPS1977AR
ALDH18A12388AD und/oder AR
ANAPC15835AR
ATAD3A1761AD und/oder AR
B3GLCT1497AR
BCOR5166XLD und/oder SMu
CDK91126AR
COG42295AD und/oder AR
COL11A15421AD und/oder AR
COL18A14560AR
COL2A14464AD
COL4A15010AD und/oder Mult
COL4A55058XLD
COPB12883AR
CRYAA522AD und/oder AR
CRYAB528AD
CRYBA4591AD
CRYBB1759AD und/oder AR
CRYBB2618AD
CRYBB3636AD und/oder AR
CRYGC525AD
CTDP12529AR
CYP27A11596AR
CYP51A11540AR
DHCR71428AR
DMPK1920AD
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
FBN18616AD und/oder Mult
FOXC11662AD und/oder Dig und/oder SMu und/oder Sus
FOXE3960AD und/oder AR
FTL528AD und/oder AR
GALK11179AR
GALM1069AR
GALT1140AR und/oder Dig
GCNT21203AD und/oder AR
GEMIN43177AR
GFER618AR
GLS1797AD und/oder AR
GNPAT2043AR
GTF2H5216AR
HMX11047AR
HTRA21377AR und/oder Sus
INPP5K1119AR
INTS16843AR
JAM3780AR
LCAT1323AR
LIM2648AR
LONP12688AR
LSS2303AR
MAF1212AD
MAN2B13036AR
MED271160AR
MSMO1489AR
MYH95883AD
NACC11589AD
NDP402XLR
NF21788AD
NHS4425XL
NUP1885294AR
OCRL2706XLR
OPA3540AD und/oder AR
P3H21584AR
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
POMT12244AR
PSMC31501AR
PXDN4440AR
RAB18621AR
RAB3GAP12946AR
RAB3GAP24182AR
RECQL43628AR
RIC13498AR
SEC23A2298AR
SIL11386AR
SLC16A121551AD
SLC33A11650AD und/oder AR
SMG82988AR
SRD5A3957AR
SREBF13534AD
TBC1D201212AR
TKFC2102AR
VPS4A1325AD
VSX21086AR
WFS12673AD und/oder AR
WRN4299AR
XYLT22598AR
ZNF5262013AR

Infos zur Erkrankung

Klinischer Kommentar

Heterogene Gruppe von Erkrankungen

 

Synonyme
  • 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)
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
  • XLD und/oder SMu
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
H28.-*

Bioinformatik und klinische Interpretation

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