Cataract 34, Multiple Types; Ctrct34

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

Mutations in the FOXE3 gene have been found to cause multiple types of cataract, which have been described as membranous and posterior subcapsular.

Genes related to Cataract 34, Multiple Types; Ctrct34

FOXE3

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Clinical Features

Phenotypes and symptoms related to Cataract 34, Multiple Types; Ctrct34

Nystagmus
Cataract
Corneal opacity
Congenital cataract
Microcornea
Subcapsular cataract
Posterior subcapsular cataract
Membranous cataract

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Alternative names

Cataract 34, Multiple Types; Ctrct34 Is also known as cataract, autosomal recessive congenital 3, cataract 34, multiple types, with or without microcornea, catc3.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Cataract 34, Multiple Types; Ctrct34 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Optic Atrophy and Early Glaucoma Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States). SLC4A4, SPG7, TBK1, ACO2, BEST1, WFS1, ACVR1, OPTN, ASB10, MFRP, CANT1, SBF2, COL4A1, CISD2, TMEM126A, MTPAP, CYP1B1, C12orf65, SH3PXD2B, FOXC1 , (...) View the complete list with 14 more genes Panel complete gene list SLC4A4, SPG7, TBK1, ACO2, BEST1, WFS1, ACVR1, OPTN, ASB10, MFRP, CANT1, SBF2, COL4A1, CISD2, TMEM126A, MTPAP, CYP1B1, C12orf65, SH3PXD2B, FOXC1, FOXE3, LMX1B, LTBP2, MAF, MYOC, NDUFS1, NR2F1, OPA1, OPA3, PAX6, AUH, PITX2, PITX3, POLG Specificity 3 % Genes 100 %
Familial Aneurysm Panel. By Collagen Diagnostic Laboratory University of Washington (United States). BGN, SKI, TGFB2, TGFB3, TGFBR1, TGFBR2, ACTA2, SLC2A10, CBS, COL3A1, MFAP5, FBN1, FBN2, FOXE3, LOX, SMAD2, SMAD3, SMAD4, MAT2A, MYH11 , (...) View the complete list with 3 more genes Panel complete gene list BGN, SKI, TGFB2, TGFB3, TGFBR1, TGFBR2, ACTA2, SLC2A10, CBS, COL3A1, MFAP5, FBN1, FBN2, FOXE3, LOX, SMAD2, SMAD3, SMAD4, MAT2A, MYH11, MYLK, PLOD3, PRKG1 Specificity 5 % Genes 100 %
Anophthalmia/microphthalmia. By Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet (Denmark). BMP4, SIX6, SOX2, TFAP2A, VAX1, ALX1, PORCN, MFRP, RAX, VSX2, BCOR, COL4A1, FREM1, CRYBA4, TENM3, STRA6, FOXE3, PRSS56, ALDH1A3, GDF3 , (...) View the complete list with 9 more genes Panel complete gene list BMP4, SIX6, SOX2, TFAP2A, VAX1, ALX1, PORCN, MFRP, RAX, VSX2, BCOR, COL4A1, FREM1, CRYBA4, TENM3, STRA6, FOXE3, PRSS56, ALDH1A3, GDF3, GDF6, GJA1, GLI3, ABCB6, HCCS, NHS, OTX2, PAX2, RARB Specificity 4 % Genes 100 %
Axenfeld-Rieger syndrome. By Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet (Denmark). B3GLCT, CYP1B1, FOXC1, FOXE3, PAX6, PITX2, PITX3 Specificity 15 % Genes 100 %
Anterior segment defects. By Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet (Denmark). PORCN, B3GLCT, COL4A1, CYP1B1, EYA1, FOXC1, FOXE3, KERA, LAMB2, PAX2, PAX6, PITX2, PITX3 Specificity 8 % Genes 100 %
FOXE3. By Institute for Human Genetics University Clinic Freiburg (Germany). FOXE3 Specificity 100 % Genes 100 %
Connective Tissue Disorders Panel. By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center (United States). BGN, SKI, TGFB2, TGFB3, TGFBR1, TGFBR2, MED12, TNXB, C1R, C1S, ACTA2, ADAMTS10, SLC2A10, ADAMTSL2, CBS, TAB2, B3GALT6, ATP6V0A2, FKBP14, RIN2 , (...) View the complete list with 45 more genes Panel complete gene list BGN, SKI, TGFB2, TGFB3, TGFBR1, TGFBR2, MED12, TNXB, C1R, C1S, ACTA2, ADAMTS10, SLC2A10, ADAMTSL2, CBS, TAB2, B3GALT6, ATP6V0A2, FKBP14, RIN2, SLC39A13, DSE, ADAMTS2, COL11A1, COL11A2, COL1A2, COL3A1, COL5A1, COL5A2, COL9A1, COL9A2, COL9A3, ZNF469, CHST14, GORAB, FLCN, MFAP5, EFEMP2, ELN, FBLN5, FBN1, FBN2, FLNA, FOXE3, ABCC6, LOX, LTBP4, SMAD2, SMAD3, SMAD4, SMAD6, MYH11, MYLK, NOTCH1, NOTCH2, ATP7A, PKD1, PKD2, PLOD1, B4GALT7, PRDM5, PRKG1, PTDSS1, PYCR1, ALDH18A1 Specificity 2 % Genes 100 %
Connective Tissue Seq Analysis. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States). SKI, TGFB2, TGFB3, TGFBR1, TGFBR2, MED12, ACTA2, SLC2A10, CBS, COL1A2, COL3A1, COL4A5, COL5A1, COL5A2, MFAP5, EFEMP2, FBN1, FBN2, FLNA, FOXE3 , (...) View the complete list with 10 more genes Panel complete gene list SKI, TGFB2, TGFB3, TGFBR1, TGFBR2, MED12, ACTA2, SLC2A10, CBS, COL1A2, COL3A1, COL4A5, COL5A1, COL5A2, MFAP5, EFEMP2, FBN1, FBN2, FLNA, FOXE3, LOX, SMAD3, SMAD4, SMAD6, MYH11, MYLK, NOTCH1, PLOD1, PLOD3, B3GAT3 Specificity 4 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

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