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ErkrankungKatarakt mit anderen Augenfehlbildungen, Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Katarakt plus andere Augenfehlbildungen (ohne weitere systemische Manifestationen) mit 8 bzw. 25 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
KP0017
Anzahl Gene
20 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
8,5 kb (Core-/Basis-Gene)
35,5 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
B3GLCT1497AR
CRYAA522AD und/oder AR
CRYBA4591AD
FOXE3960AD und/oder AR
GJA81302AD
MAF1212AD
PAX61269AD und/oder AR
VSX21086AR
BCOR5166XLD und/oder SMu
COL18A14560AR
CRYBB1759AD und/oder AR
CRYBB2618AD
CRYGC525AD
CRYGD525AD
DNMBP6032AR
LCAT1323AR
OPA3540AD und/oder AR
P3H21584AR
PITX3909AD und/oder AR
PXDN4440AR

Infos zur Erkrankung

Klinischer Kommentar

Gruppe von heterogenen Erkrankungen

 

Synonyme
  • Cataract pulverulent or cerulean with/-out microcornea
  • Peter's anomaly, microphthalmia, included
  • Peters anomaly, included
  • 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: 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: Foveal hypoplasia 1 (PAX6)
  • Allelic: Keratitis (PAX6)
  • Allelic: Microphthalmia, isolated 2 (VSX2)
  • Allelic: Morning glory disc anomaly (PAX6)
  • Allelic: Norum disease (LCAT)
  • Allelic: Optic nerve hypoplasia (PAX6)
  • Anterior segment dysgenesis 1, multiple subtypes (PTX3)
  • Anterior segment dysgenesis 2, multiple subtypes (FOXE3)
  • Anterior segment dysgenesis 5, multiple subtypes (PAX6)
  • Anterior segment dysgenesis 7, with sclerocornea (PXDN)
  • Cataract 1, multiple types (GJA8)
  • Cataract 17, multiple types (CRYBB1)
  • Cataract 2, multiple types (CRYGC)
  • Cataract 21, multiple types (MAF)
  • Cataract 23 (CRYBA4)
  • Cataract 3, multiple types (CRYBB2)
  • Cataract 34, multiple types (FOXE3)
  • Cataract 4, multiple types (CRYGD)
  • Cataract 48 (DNMBP)
  • Cataract 9, multiple types (CRYAA)
  • Fish-eye disease (LCAT)
  • Knobloch syndrome, type 1 (COL18A1)
  • Microphthalmia with coloboma 3 (VSX2)
  • Microphthalmia, syndromic 2 (BCOR)
  • Myopia, high, with cataract and vitreoretinal degeneration (P3H2)
  • Optic atrophy 3 with cataract (OPA3)
  • Peters-plus syndrome (B3GLCT)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AD und/oder AR
  • AR
  • XLD und/oder SMu
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
H26.-

Bioinformatik und klinische Interpretation

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