Schnyder Corneal Dystrophy

Table of contents:

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

Description

Schnyder corneal dystrophy (SCD) is a rare form of stromal corneal dystrophy (see this term) characterized by corneal clouding or crystals within the corneal stroma, and a progressive decrease in visual acuity.

Genes related to Schnyder Corneal Dystrophy

UBIAD1

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Clinical Features

Top most frequent phenotypes and symptoms related to Schnyder Corneal Dystrophy

Intellectual disability
Visual loss
Cerebellar hypoplasia
Abnormality of the eye
Corneal opacity
Genu valgum
Postural instability
Atherosclerosis
Corneal dystrophy
Peripheral arterial stenosis

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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.

Alternative names

Schnyder Corneal Dystrophy Is also known as corneal dystrophy, crystalline, of schnyder, schnyder crystalline corneal dystrophy, hereditary crystalline stromal dystrophy of schnyder, scd, schnyder crystalline dystrophy sine crystals, sccd, crystalline stromal dystrophy, corneal dystrophy, schnyder.

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.

Schnyder Corneal Dystrophy Recommended genes panels

Panel Name, Specifity and genes Tested/covered
UBIAD1. By Institute for Human Genetics University Clinic Freiburg (Germany). UBIAD1 Specificity 100 % Genes 100 %
Schnyder corneal dystrophy (sequence analysis of UBIAD1 gene). By CGC Genetics (Portugal). UBIAD1 Specificity 100 % Genes 100 %
Schnyder corneal dystrophy (sequence analysis of UBIAD1 gene). By CGC Genetics (Portugal). UBIAD1 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 %
Schnyder Crystalline Corneal Dystrophy (SCCD) via UBIAD1 Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics (United States). UBIAD1 Specificity 100 % 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 1 % Genes 100 %
Corneal Dystrophy. By Asper Biogene Asper Biogene LLC (Estonia). SOD1, TACSTD2, TCF4, ZEB1, TGFBI, VSX1, SLC4A11, COL17A1, COL8A2, CYP4V2, ZNF469, PIKFYVE, LOXHD1, DCN, UBIAD1, GSN, KRT12, KRT3, CHST6, PRDM5 Specificity 5 % Genes 100 %
Eye diseases comprehensive panel. By Asper Biogene Asper Biogene LLC (Estonia). RGS9, RHO, GRK1, RLBP1, ROM1, RP1, RP2, RP9, RPE65, RPGR, BFSP2, RS1, CNNM4, SAG, SDCCAG8, BMP4, SEMA4A, SIX6, SLC24A1, SOX2 , (...) View the complete list with 259 more genes Panel complete gene list RGS9, RHO, GRK1, RLBP1, ROM1, RP1, RP2, RP9, RPE65, RPGR, BFSP2, RS1, CNNM4, SAG, SDCCAG8, BMP4, SEMA4A, SIX6, SLC24A1, SOX2, TACSTD2, ZEB1, TEAD1, TGFBI, TIMM8A, TIMP3, TREX1, CEP41, TULP1, TYR, TYRP1, USH1C, CFAP410, USH2A, CLRN1, VAX1, VIM, BEST1, VSX1, WFS1, ARL6, RPGRIP1, CDH23, CA4, CABP4, CACNA1F, C1QTNF5, ELOVL4, TMEM237, CDHR1, FYCO1, PCDH15, PRPF31, JAM3, KLHL7, PRPF6, ABHD12, PANK2, RP1L1, CHMP4B, YAP1, USH1G, WHRN, TRIM32, SLC4A11, SLC45A2, MFN2, ADAMTS18, RIMS1, PRPF8, PRPF3, ADGRV1, CDH3, INVS, NMNAT1, MFRP, GIPC3, RAX2, WDR19, IMPG2, NAA10, GRIP1, BBS7, NPHP4, FRAS1, CHM, RD3, VSX2, TTLL5, RDH12, TTC8, GPR143, CACNA2D4, B3GLCT, SMOC1, SPATA7, DHDDS, TPP1, CLN3, CLN5, CLN6, CLN8, BCOR, PITPNM3, CNGA1, CNGA3, CNGB1, CNGB3, EYS, AHI1, ADAM9, TSPAN12, TOPORS, CERKL, VPS13B, COL11A1, AGK, COL11A2, COL4A1, COL8A2, COL9A1, COL9A2, GNPTG, CYP4V2, ZNF469, FREM1, CRB1, PIKFYVE, CRX, CRYAA, CRYAB, CRYBA1, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGB, CRYGC, CRYGD, CRYGS, CIB2, VCAN, FLVCR1, CTDP1, TMEM216, CTNNA1, CTSD, TMEM126A, FREM2, ARL13B, C19orf12, TTC21B, OFD1, TCTN2, FAM161A, CYP1B1, TCTN1, PDZD7, BBS10, ZNF513, BBS12, TMEM138, DCN, C8orf37, WDPCP, TMEM67, MFSD8, IQCB1, CEP290, IFT140, RPGRIP1L, ZNF644, CC2D2A, BBS9, RGS9BP, KIF7, STRA6, UBIAD1, TDRD7, POC1B, SNRNP200, GPR179, LCA5, EFEMP1, PRCD, EPHA2, ABCA4, PCARE, AIPL1, PRSS56, FSCN2, FTL, FZD4, GALK1, GALT, OPN1MW, GDF3, GDF6, GFER, GJA1, GJA3, ALMS1, GNAT1, GNAT2, GRM6, GRN, GSN, GUCA1A, GUCA1B, GUCY2D, ABCB6, HARS, HCCS, CFH, HMX1, HSF4, IDH3B, ABCC6, IMPDH1, IMPG1, ITM2B, JAG1, KCNJ13, KIF11, KRT12, KRT3, LAMA1, LIM2, LRAT, LRP5, LZTFL1, MAK, CHST6, MERTK, MIP, MKKS, MKS1, TRPM1, MTTP, MVK, MYO7A, MYOC, NDP, NHS, NPHP1, NPHP3, NR2E3, NRL, NYX, OAT, OPA1, OPA3, OTX2, PAX2, PAX6, PCYT1A, PDE6A, PDE6B, PDE6C, PDE6G, PDE6H, PEX7, PHYH, PITX2, PITX3, PLA2G5, PPT1, PRDM5, PROM1, BBS1, BBS2, BBS4, BBS5, RAB28, RBP3, RBP4, RDH5, PRPH2, RGR Specificity 1 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

MESH ORPHANET OMIM Rare Disease Search Engine

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