Foveal Hypoplasia-optic Nerve Decussation Defect-anterior Segment Dysgenesis Syndrome

Incidence and onset information

Alternative names

Foveal Hypoplasia-optic Nerve Decussation Defect-anterior Segment Dysgenesis Syndrome Is also known as foveal hypoplasia 2 with optic nerve decussation defects and anterior segment dysgenesis without albinism, fhonda syndrome, foveal hypoplasia 2 with or without optic nerve misrouting and/or anterior segment dysgenesis, fhonda.

Researches and researchers

Doctors, researchs, and experts related to Foveal Hypoplasia-optic Nerve Decussation Defect-anterior Segment Dysgenesis Syndrome extracted from public data.

Foveal Hypoplasia-optic Nerve Decussation Defect-anterior Segment Dysgenesis Syndrome Experts map

Current Researchs and researchers

• GENT — Dr Bart P LEROY

  Clinical expert - Principal investigator of clinical trial - Investigator of research project - Contact person of patient organisation
  
  

  • Institution/s:
    — Ghent University Hospital, Center for Medical Genetics Gent
    — Ghent University Hospital - UZGent
    — Ghent University Hospital - UZGent
  • Research area/topic::
    

    Study of candidate genes for anterior segment dysgenesis.



• MADRID — Dr Matías MORÍN RODRÍGUEZ

  Investigator of research project
  
  

  • Institution/s:
    — Hospital Universitario Ramón y Cajal
  • Research area/topic::
    

    Analysis of genetic mosaicism by NGS. Application in rare pathologies and in cellular and animal models by genetic edition

Foveal Hypoplasia-optic Nerve Decussation Defect-anterior Segment Dysgenesis Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Ocular anterior segment mesenchymal dysgenesis (NGS panel of 18 genes). By CGC Genetics (Portugal). BMP4, VSX1, PXDN, B3GLCT, COL4A1, CYP1B1, MIR184, SLC38A8, FGFR2, FOXC1, FOXE3, HMX1, JAG1, ASPH, PAX6, PITX2, PITX3, PTCH1 Specificity 6 % Genes 100 %
Ocular anterior segment mesenchymal dysgenesis (NGS panel of 18 genes). By CGC Genetics (Portugal). BMP4, VSX1, PXDN, B3GLCT, COL4A1, CYP1B1, MIR184, SLC38A8, FGFR2, FOXC1, FOXE3, HMX1, JAG1, ASPH, PAX6, PITX2, PITX3, PTCH1 Specificity 6 % Genes 100 %
Isolated Foveal Hypoplasia Type 2 (FVH2) via SLC38A8 Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics (United States). SLC38A8 Specificity 100 % Genes 100 %
Hypopigmentation Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). SNAI2, SOX10, TYR, TYRP1, HPS3, HPS4, SLC45A2, HPS5, DTNBP1, HPS6, LYST, GPR143, SLC24A5, BLOC1S3, LRMDA, MLPH, EDN3, EDNRB, SLC38A8, HPS1 , (...) View the complete list with 10 more genes Panel complete gene list SNAI2, SOX10, TYR, TYRP1, HPS3, HPS4, SLC45A2, HPS5, DTNBP1, HPS6, LYST, GPR143, SLC24A5, BLOC1S3, LRMDA, MLPH, EDN3, EDNRB, SLC38A8, HPS1, AP3B1, AP3D1, KITLG, MC1R, MITF, MYO5A, OCA2, BLOC1S6, PAX3, RAB27A Close Specificity 4 % 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 Close Specificity 1 % Genes 100 %
Ocular / Oculocutaneous Albinism. By MGZ Medical Genetics Center (Germany). TYR, TYRP1, SLC45A2, GPR143, SLC24A5, LRMDA, SLC38A8, FRMD7, OCA2 Specificity 12 % Genes 100 %
Anterior Segment Dysgenesis, Axenfeld-Rieger Syndrome. By MGZ Medical Genetics Center (Germany). B3GLCT, COL4A1, COL4A2, CYP1B1, MIR184, SLC38A8, EYA1, FOXC1, FOXE3, LTBP2, ASPH, MYOC, PAX6, PITX2 Specificity 8 % Genes 100 %
Anophthalmia/Microphthalmia/Coloboma/Anterior Segment Dysgenesis. By Asper Biogene Asper Biogene LLC (Estonia). BMP4, SIX6, SOX2, VAX1, VSX1, MFRP, RAX, VSX2, B3GLCT, SMOC1, CHD7, BCOR, COL4A1, CYP1B1, TENM3, STRA6, SLC38A8, EYA1, FOXC1, FOXE3 , (...) View the complete list with 15 more genes Panel complete gene list BMP4, SIX6, SOX2, VAX1, VSX1, MFRP, RAX, VSX2, B3GLCT, SMOC1, CHD7, BCOR, COL4A1, CYP1B1, TENM3, STRA6, SLC38A8, EYA1, FOXC1, FOXE3, PRSS56, ALDH1A3, GDF3, GDF6, ABCB6, HCCS, HESX1, HMGB3, LTBP2, MAB21L2, ASPH, OTX2, PAX6, PITX2, RARB Close Specificity 3 % Genes 100 %

Sources and references

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