Megalocornea

Table of contents:

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

Genes related to Megalocornea

CHRDL1

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Megalocornea

Cataract
Tremor
Glaucoma
Astigmatism
Megalocornea
Miosis
Corneal arcus
Lens subluxation
Iridodonesis
Increased corneal thickness

And another 1 symptoms. If you need more information about this disease we can help you.

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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.

Megalocornea Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Megalocornea 1, X-linked (sequence analysis of CHRDL1 gene). By CGC Genetics (Portugal). CHRDL1 Specificity 100 % Genes 100 %
X-linked Megalocornea 1 (MGC1) via CHRDL1 Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics (United States). CHRDL1 Specificity 100 % 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 4 % Genes 100 %
Megalocornea, X-linked. By Centogene AG - the Rare Disease Company (Germany). CHRDL1 Specificity 100 % Genes 100 %
CHRDL1. By Fulgent Genetics Fulgent Genetics (United States). CHRDL1 Specificity 100 % Genes 100 %
X-chromosome High Resolution microarray analysis. By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center (United States). RP2, RPGR, RPL10, RPS6KA3, RS1, SAT1, SH2D1A, SHOX, SLC16A2, SLC35A2, SLC6A14, SLC6A8, SLC9A6, KDM5C, SMPX, SMS, SOX3, SRY, BTK, CDKL5 , (...) View the complete list with 140 more genes Panel complete gene list RP2, RPGR, RPL10, RPS6KA3, RS1, SAT1, SH2D1A, SHOX, SLC16A2, SLC35A2, SLC6A14, SLC6A8, SLC9A6, KDM5C, SMPX, SMS, SOX3, SRY, BTK, CDKL5, STS, SYN1, SYP, TAF1, TAZ, SERPINA7, TBX22, TIMM8A, TSPAN7, MED12, UBA1, UBE2A, UBQLN2, KDM6A, WAS, XK, ZIC3, ZNF41, ZNF711, ZNF81, FTSJ1, HDAC8, NSDHL, CACNA1F, PCDH19, NLGN4X, NLGN3, ARHGEF9, CASK, MBTPS2, RAB39B, BRWD3, ZNF674, PORCN, ARX, PHF6, ATP6AP2, TMLHE, ZDHHC9, NAA10, CHM, GPR143, CLCN5, ZDHHC15, UPF3B, CLIC2, PHF8, BCOR, COL4A5, VMA21, COX7B, TRAPPC2, CSF2RA, ZC4H2, RAB40AL, OFD1, MAMLD1, CYBB, AMER1, DCX, CCNQ, MAGT1, DKC1, WDR45, DLG3, SHROOM4, DMD, CHRDL1, SRPX2, ALG13, EBP, EDA, EFNB1, EMD, AGTR2, F8, F9, ACSL4, FANCB, FHL1, FLNA, AFF2, ALAS2, G6PD, GATA1, OPN1MW, GDI1, GJB1, GK, GLA, GRIA3, AMELX, ABCB7, HSD17B10, HCCS, HCFC1, HPRT1, IDS, IGBP1, AP1S2, XIAP, IGSF1, IKBKG, IL1RAPL1, IL2RG, ABCD1, ANOS1, AR, L1CAM, LAMP2, MAOA, ARHGEF6, MECP2, MID1, ARSE, MTM1, NDP, NHS, NR0B1, OCRL, OPHN1, ATP2B3, OTC, PAK3, ATP7A, AIFM1, PDHA1, ATRX, CFP, PGK1, PHKA1, PHKA2, PIGA, AVPR2, PLP1, POLA1, POU3F4, PQBP1, PRPS1, RBM10 Specificity 1 % Genes 100 %
Corneal Dystrophy Panel. By Blueprint Genetics (Finland). TACSTD2, TCF4, ZEB1, TGFBI, OVOL2, SLC4A11, COL17A1, COL5A1, COL8A2, CYP4V2, ZNF469, PIKFYVE, LOXHD1, DCN, CHRDL1, UBIAD1, FOXE3, GJA8, GSN, KERA , (...) View the complete list with 7 more genes Panel complete gene list TACSTD2, TCF4, ZEB1, TGFBI, OVOL2, SLC4A11, COL17A1, COL5A1, COL8A2, CYP4V2, ZNF469, PIKFYVE, LOXHD1, DCN, CHRDL1, UBIAD1, FOXE3, GJA8, GSN, KERA, KRT12, KRT3, LCAT, MAF, CHST6, PITX2, PRDM5 Specificity 4 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

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