Cataract-microcornea Syndrome

Table of contents:

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

Description

Cataract-microcornea syndrome is characterized by the association of congenital cataract and microcornea without any other systemic anomaly or dysmorphism.

Genes related to Cataract-microcornea Syndrome

GJA8
CRYBA4
CRYBB1
CRYGC
CRYBB2
MAF
CRYGD
CRYAA

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Clinical Features

Phenotypes and symptoms related to Cataract-microcornea Syndrome

Nystagmus
Cataract
Myopia
Corneal opacity
Iris coloboma
Microcornea
Corneal dystrophy

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.

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-microcornea Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Cataract 1, multiple types (sequence analysis of GJA8 gene). By CGC Genetics (Portugal). GJA8 Specificity 100 % Genes 13 %
Cataracts (NGS panel for 41 genes). By CGC Genetics (Portugal). BFSP1, BFSP2, VIM, WFS1, FYCO1, PXDN, CHMP4B, P3H2, AGK, SLC16A12, CRYAA, CRYAB, CRYBA1, CRYBA2, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGB, CRYGC , (...) View the complete list with 21 more genes Panel complete gene list BFSP1, BFSP2, VIM, WFS1, FYCO1, PXDN, CHMP4B, P3H2, AGK, SLC16A12, CRYAA, CRYAB, CRYBA1, CRYBA2, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGB, CRYGC, CRYGD, CRYGS, SIL1, CTDP1, TDRD7, EPHA2, EYA1, FOXE3, FTL, GALK1, GALT, GCNT2, GJA3, GJA8, HSF4, LIM2, MAF, MIP, NHS, PAX6, PITX3 Specificity 20 % Genes 100 %
Congenital Cataracts Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). BFSP1, BFSP2, VIM, FYCO1, PXDN, CHMP4B, P3H2, AGK, SLC16A12, CRYAA, CRYAB, CRYBA1, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGB, CRYGC, CRYGD, CRYGS , (...) View the complete list with 20 more genes Panel complete gene list BFSP1, BFSP2, VIM, FYCO1, PXDN, CHMP4B, P3H2, AGK, SLC16A12, CRYAA, CRYAB, CRYBA1, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGB, CRYGC, CRYGD, CRYGS, FAM126A, SIL1, CTDP1, TDRD7, MIR184, EPHA2, EYA1, FOXE3, GALK1, GCNT2, GJA3, GJA8, HSF4, LIM2, MAF, MIP, NHS, PAX6, PITX3, SLC33A1 Specificity 20 % Genes 100 %
Corneal Dystrophies Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). TACSTD2, TCF4, ZEB1, TGFBI, VSX1, OVOL2, SLC4A11, COL8A2, CYP4V2, ZNF469, PIKFYVE, AGBL1, LOXHD1, DCN, CHRDL1, UBIAD1, FOXE3, GJA8, GSN, KERA , (...) View the complete list with 6 more genes Panel complete gene list TACSTD2, TCF4, ZEB1, TGFBI, VSX1, OVOL2, SLC4A11, COL8A2, CYP4V2, ZNF469, PIKFYVE, AGBL1, LOXHD1, DCN, CHRDL1, UBIAD1, FOXE3, GJA8, GSN, KERA, KRT12, KRT3, MAF, CHST6, PITX2, PRDM5 Specificity 8 % Genes 25 %
Cataract. By MGZ Medical Genetics Center (Germany). BFSP1, BFSP2, SIX6, VIM, WFS1, RAB18, FYCO1, JAM3, TBC1D20, CHMP4B, RAB3GAP1, RAB3GAP2, P3H2, VSX2, COL11A1, COL18A1, COL4A1, COL4A2, SLC16A12, CRYAA , (...) View the complete list with 44 more genes Panel complete gene list BFSP1, BFSP2, SIX6, VIM, WFS1, RAB18, FYCO1, JAM3, TBC1D20, CHMP4B, RAB3GAP1, RAB3GAP2, P3H2, VSX2, COL11A1, COL18A1, COL4A1, COL4A2, SLC16A12, CRYAA, CRYAB, CRYBA1, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGB, CRYGC, CRYGD, CRYGS, FAM126A, SIL1, CTDP1, CYP27A1, EPG5, TDRD7, MIR184, TMEM114, EPHA2, ERCC1, ERCC2, ERCC5, ERCC6, EYA1, FOXC1, FOXE3, FTL, GALK1, GCNT2, GJA3, GJA8, GLA, ABCB6, HSF4, LIM2, LTBP2, MAF, MIP, MYH9, NHS, OPA3, PAX6, PITX2, SLC33A1 Specificity 13 % Genes 100 %
Eye Diseases - panels. By MGZ Medical Genetics Center (Germany). BFSP1, BFSP2, SALL2, BMP4, BMP7, SHH, SIX3, SIX6, FOXL2, SOX2, TACSTD2, ZEB1, TFAP2A, TGFBI, TGIF1, TREX1, TYR, TYRP1, VAX1, VIM , (...) View the complete list with 146 more genes Panel complete gene list BFSP1, BFSP2, SALL2, BMP4, BMP7, SHH, SIX3, SIX6, FOXL2, SOX2, TACSTD2, ZEB1, TFAP2A, TGFBI, TGIF1, TREX1, TYR, TYRP1, VAX1, VIM, VSX1, WFS1, ZIC2, ACTB, ADAMTS10, ATOH7, RAB18, ACTG1, FYCO1, PXDN, CBS, JAM3, OVOL2, TBC1D20, CHMP4B, SLC4A11, SLC45A2, MFN2, RAB3GAP1, ADAMTS17, RAB3GAP2, MFRP, RAX, GRIP1, FRAS1, P3H2, KIF21A, ADAMTSL4, VSX2, GPR143, B3GLCT, SMOC1, NDUFB11, SLC24A5, CHD7, TUBB3, BCOR, ADAMTS2, VPS13B, COL11A1, COL11A2, COL17A1, COL18A1, COL3A1, COL4A1, COL4A2, COL5A1, COL5A2, COL8A2, COL9A1, COL9A2, COL9A3, SLC16A12, CYP4V2, ZNF469, LRMDA, PIKFYVE, SIPA1L3, CRYAA, CRYAB, CRYBA1, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGB, CRYGC, CRYGD, CRYGS, TMEM98, FAM126A, SIL1, VCAN, CTDP1, TMEM126A, FREM2, MTPAP, CYP1B1, CYP27A1, AGBL1, C12orf65, DCN, EPG5, C12orf57, TENM3, STRA6, UBIAD1, TUBB2B, TDRD7, MIR184, SLC38A8, TMEM114, EPHA2, ERCC1, ERCC2, ERCC5, ERCC6, EYA1, FBN1, FOXC1, FOXE3, PRSS56, FTL, FZD4, ALDH1A3, GALK1, GCNT2, GDF3, GDF6, GJA1, GJA3, GJA8, GLA, GSN, ABCB6, HCCS, HESX1, HMX1, HSF4, KRT3, LIM2, LRP2, LRP5, LTBP2, MAB21L2, MAF, PHOX2A, CHST6, MIP, ASPH, MYH9, MYOC, NDP, NHS, FRMD7, OCA2, OCRL, OPA1, OPA3, OTX2, PAX2, PAX6, PITX2, PRDM5, SLC33A1, RARB Specificity 5 % Genes 100 %
Cataract panel. By Centogene AG - the Rare Disease Company (Germany). BFSP1, BFSP2, VIM, WFS1, UNC45B, FYCO1, CHMP4B, P3H2, VSX2, BCOR, LEMD2, AGK, SLC16A12, SIPA1L3, CRYAA, CRYAB, CRYBA1, CRYBA2, CRYBA4, CRYBB1 , (...) View the complete list with 25 more genes Panel complete gene list BFSP1, BFSP2, VIM, WFS1, UNC45B, FYCO1, CHMP4B, P3H2, VSX2, BCOR, LEMD2, AGK, SLC16A12, SIPA1L3, CRYAA, CRYAB, CRYBA1, CRYBA2, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGB, CRYGC, CRYGD, CRYGS, CTDP1, TDRD7, EPHA2, EYA1, FOXC1, FOXE3, FTL, GALK1, GCNT2, GJA3, GJA8, HSF4, LIM2, LSS, MAF, MIP, NHS, PAX6, PITX3 Specificity 18 % Genes 100 %
Cataract-microcornea syndrome. By Centogene AG - the Rare Disease Company (Germany). GJA8 Specificity 100 % Genes 13 %

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Sources and references

You can check the following sources for additional information.

MESH ORPHANET Rare Disease Search Engine

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