Microspherophakia And/or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma; Mspka

Description

Microspherophakia (MSP) is a rare disease characterized by smaller and more spherical lenses than normal bilaterally, an increased anteroposterior thickness of the lens, and highly myopic eyes. Lens dislocation or subluxation may occur, leading to defective accommodation (summary by Ben Yahia et al., 2009).Microspherophakia may occur in association with ectopia lentis and glaucoma, Marfan syndrome (MFS ), and Weill-Marchesani syndrome (WMS ).

Clinical Features

Top most frequent phenotypes and symptoms related to Microspherophakia And/or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma; Mspka

  • Visual impairment
  • High palate
  • Hypertension
  • Myopia
  • Coma
  • Pectus excavatum
  • Glaucoma
  • Abnormality of the genital system
  • Hypermetropia
  • Arachnodactyly
And another 18 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


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Microspherophakia And/or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma; Mspka 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 in United States.

AUH, BEST1, C12orf65, PAX6, PITX3, OPTN, OPA1, WFS1, FOXC1, PITX2, MFRP, CYP1B1, POLG, OPA3, ACO2, MTPAP, TMEM126A, SPG7, CISD2, NDUFS1 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
100 %
LTBP2. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

LTBP2
Specificity
100 %
Genes
100 %
MYOC, CYP1B1, LTBP2, OPTN. NextGeneDx.Complete sequencing by NGS.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

OPTN, CYP1B1, MYOC, LTBP2
Specificity
25 %
Genes
100 %
Primary Congenital Glaucoma (sequence analysis of LTBP2 gene).

By CGC Genetics in Portugal.

LTBP2
Specificity
100 %
Genes
100 %
Primary Congenital Glaucoma via the LTBP2 Gene.

By PreventionGenetics PreventionGenetics in United States.

LTBP2
Specificity
100 %
Genes
100 %
Glaucoma Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

PAX6, OPTN, FOXC1, PITX2, MFRP, CYP1B1, LMX1B, MYOC, COL4A1, LTBP2, SLC4A4, SH3PXD2B, WDR36, COL8A2, ATOH7, OPTC, COL8A1
Specificity
6 %
Genes
100 %
Comprehensive Cardiology Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

HFE, TTR, GAA, COL3A1, ELN, EYA4, JAG1, DSP, SLC25A4, CRYAB, HADHA, RAF1, FBN1, GCKR, DNAJC19, SCO2, TAZ, COX15, CBS, ALMS1 , (...)

View the complete list with 144 more genes
Specificity
1 %
Genes
100 %
Weill-Marchesani syndrome NGS panel.

By Connective Tissue Gene Tests in United States.

FBN1, LTBP2, ADAMTS10, ADAMTS17
Specificity
25 %
Genes
100 %
Weill-Marchesani syndrome Comprehensive panel.

By Connective Tissue Gene Tests in United States.

FBN1, LTBP2, ADAMTS10, ADAMTS17
Specificity
25 %
Genes
100 %
Weill-Marchesani syndrome Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

FBN1, LTBP2, ADAMTS10, ADAMTS17
Specificity
25 %
Genes
100 %
Cataract.

By MGZ Medical Genetics Center in Germany.

EYA1, COL2A1, PAX6, ABCB6, WFS1, FOXC1, PITX2, NHS, CRYAB, OPA3, FYCO1, GJA3, GALK1, CYP27A1, SIX6, GLA, SLC33A1, SIL1, COL4A1, RAB3GAP1 , (...)

View the complete list with 45 more genes
Specificity
2 %
Genes
100 %
LTBP2-Related Primary Congenital Glaucoma.

By MGZ Medical Genetics Center in Germany.

LTBP2
Specificity
100 %
Genes
100 %
LTBP2-Related Weill-Marchesani Syndrome.

By MGZ Medical Genetics Center in Germany.

LTBP2
Specificity
100 %
Genes
100 %
Eye Diseases - panels.

By MGZ Medical Genetics Center in Germany.

C12orf65, FOXL2, RAX, TYRP1, EYA1, LRP5, COL2A1, COL3A1, OCA2, VSX1, SLC45A2, PAX6, ZEB1, TGFBI, TUBB3, TYR, GPR143, OPA1, ABCB6, WFS1 , (...)

View the complete list with 147 more genes
Specificity
1 %
Genes
100 %
Anterior Segment Dysgenesis, Axenfeld-Rieger Syndrome.

By MGZ Medical Genetics Center in Germany.

EYA1, PAX6, FOXC1, PITX2, CYP1B1, MYOC, COL4A1, FOXE3, LTBP2, B3GLCT, COL4A2, ASPH, SLC38A8, MIR184
Specificity
8 %
Genes
100 %
Microspherophakia and/or megalocornea.

By Centogene AG - the Rare Disease Company in Germany.

LTBP2
Specificity
100 %
Genes
100 %
Glaucoma, primary type 3D.

By Centogene AG - the Rare Disease Company in Germany.

LTBP2
Specificity
100 %
Genes
100 %
Weill-Marchesani syndrome 3.

By Centogene AG - the Rare Disease Company in Germany.

LTBP2
Specificity
100 %
Genes
100 %
Anophthalmia/Microphthalmia/Coloboma/Anterior Segment Dysgenesis.

By Asper Biogene Asper Biogene LLC in Estonia.

RAX, EYA1, VSX1, PAX6, ABCB6, FOXC1, PITX2, MFRP, OTX2, CYP1B1, STRA6, HCCS, BCOR, SIX6, SOX2, HESX1, CHD7, COL4A1, GDF6, FOXE3 , (...)

View the complete list with 15 more genes
Specificity
3 %
Genes
100 %
Glaucoma.

By Asper Biogene Asper Biogene LLC in Estonia.

BEST1, PAX6, PITX3, OPTN, FOXC1, PITX2, CYP1B1, LMX1B, MYOC, SBF2, CANT1, ACVR1, ASB10, LTBP2, SLC4A4, WDR36, COL18A1, LTBP3, NTF4, LOXL1
Specificity
5 %
Genes
100 %
Ectopia lentis gene package.

By Connective Tissue Laboratory Ghent University Hospital in Belgium.

FBN1, LTBP2, ADAMTSL4
Specificity
34 %
Genes
100 %
LTBP2 mutational analysis.

By Connective Tissue Laboratory Ghent University Hospital in Belgium.

LTBP2
Specificity
100 %
Genes
100 %
Glaucoma 3, primary congenital, D: LTBP2 gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

LTBP2
Specificity
100 %
Genes
100 %
Glaucoma.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

PAX6, OPTN, OPA1, FOXC1, MFRP, CYP1B1, RPGRIP1, MYOC, ASB10, LTBP2, SH3PXD2B, VSX2, PRSS56, WDR36, COL8A2, OPTC, NTF4, LOXL1, OLFM2
Specificity
6 %
Genes
100 %
Glaucoma (Advance).

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

MTHFR, TTR, BEST1, PAX6, PITX3, OPTN, OPA1, FOXC1, MFRP, CYP1B1, RRM2B, RPGRIP1, CA4, LMX1B, MYOC, RPS19, SBF2, POMT1, ISPD, CANT1 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
100 %
NGS panel - Ectopia lentis and/or Weill-Marchesani syndrome.

By Genome Diagnostics VU University Medical Center in Netherlands.

FBN1, CBS, ADAMTSL2, LTBP2, ADAMTSL4, ADAMTS10, ADAMTS17
Specificity
15 %
Genes
100 %
Lysosomal Storage Disorders: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

GAA, PSAP, GNPTAB, GLB1, GNE, SMPD1, FBN1, CTSD, GRN, HEXA, GM2A, HEXB, CTSA, GUSB, GALNS, GNS, HGSNAT, NAGLU, SGSH, MANBA , (...)

View the complete list with 35 more genes
Specificity
2 %
Genes
100 %
Glaucoma NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

MTHFR, TTR, BEST1, PAX6, PITX3, OPTN, OPA1, FOXC1, CYP1B1, RRM2B, CA4, LMX1B, MYOC, RPS19, SBF2, POMT1, ISPD, CANT1, ACVR1, LTBP2 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
100 %
LTBP2.

By Fulgent Genetics Fulgent Genetics in United States.

LTBP2
Specificity
100 %
Genes
100 %
Glaucoma Panel.

By Blueprint Genetics in Finland.

PAX6, OPTN, OPA1, FOXC1, PITX2, CYP1B1, OPA3, TMEM126A, LMX1B, MYOC, COL4A1, CNTNAP2, TBK1, MAF, FOXE3, LTBP2, TEK, WDR36
Specificity
6 %
Genes
100 %
Skeletal Dysplasias Core Panel.

By Blueprint Genetics in Finland.

ALPL, ANKH, FKBP10, LRP5, COL2A1, COL1A1, COL1A2, TGFB1, TNFRSF11A, CLCN7, SERPINF1, SLC39A13, P3H1, CRTAP, PLOD2, AGPS, CTSK, CYP27B1, FAM20C, CA2 , (...)

View the complete list with 91 more genes
Specificity
1 %
Genes
100 %
Comprehensive Skeletal Dysplasias and Disorders Panel.

By Blueprint Genetics in Finland.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, LRP5, COL2A1, COL1A1, COL1A2, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, ATP6V0A2, FBN1, SERPINF1, SP7 , (...)

View the complete list with 226 more genes
Specificity
1 %
Genes
100 %
Micromelic Dysplasia Panel.

By Blueprint Genetics in Finland.

FBN1, FGFR3, SMAD4, PRKAR1A, SHOX, WDR35, SOX9, ADAMTSL2, IFT140, LTBP2, BMPR1B, WDR19, GNAS, IFT122, EXT1, WNT5A, ROR2, LIFR, SLC35D1, TRIP11 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
100 %
Ectopia Lentis Panel.

By Blueprint Genetics in Finland.

AASS, FBN1, BCOR, SUOX, CBS, PORCN, LTBP2, VSX2, COL18A1, ADAMTSL4, ADAMTS10, ASPH, P3H2, ADAMTS17
Specificity
8 %
Genes
100 %
Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel.

By Blueprint Genetics in Finland.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, BCS1L, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, COL3A1, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, ATP6V0A2 , (...)

View the complete list with 288 more genes
Specificity
1 %
Genes
100 %
Primary congenital glaucoma 3.

By Bioarray in Spain.

LTBP2
Specificity
100 %
Genes
100 %
GLAUCOMA, SECONDARY - MEGALOCORNEA - SPHEROPHAKIA.

By Laboratorio de Genetica Clinica SL in Spain.

LTBP2
Specificity
100 %
Genes
100 %
GLAUCOMA,PRIMARY.

By Laboratorio de Genetica Clinica SL in Spain.

CYP1B1, LTBP2
Specificity
50 %
Genes
100 %
Primary Congenital Glaucoma, Sequencing LTBP2 Gene.

By Reference Laboratory Genetics in Spain.

LTBP2
Specificity
100 %
Genes
100 %
Glaucoma , Panel Massive Sequencing (NGS) 17 Genes.

By Reference Laboratory Genetics in Spain.

PAX6, OPTN, OPA1, FOXC1, MFRP, CYP1B1, RPGRIP1, MYOC, ASB10, LTBP2, SH3PXD2B, VSX2, PRSS56, WDR36, COL8A2, NTF4, LOXL1
Specificity
6 %
Genes
100 %
Ectopia Lentis , Panel Massive Sequencing (NGS) ADAMTSL4, FBN1, LTBP2 Genes.

By Reference Laboratory Genetics in Spain.

FBN1, LTBP2, ADAMTSL4
Specificity
34 %
Genes
100 %
Weill-Marchesani Syndrome: gene sequencing panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

FBN1, LTBP2, ADAMTS10
Specificity
34 %
Genes
100 %
Primary Congenital Glaucoma: gene sequencing panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

CYP1B1, LTBP2, TEK
Specificity
34 %
Genes
100 %


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