Microphthalmia, Isolated 5; Mcop5

Clinical Features

Top most frequent phenotypes and symptoms related to Microphthalmia, Isolated 5; Mcop5

  • Intellectual disability
  • Hearing impairment
  • Cataract
  • Visual impairment
  • Blindness
  • Coma
  • Microphthalmia
  • Rod-cone dystrophy
  • Glaucoma
  • Reduced visual acuity
And another 22 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.


Mendelian

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Microphthalmia, Isolated 5; Mcop5 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMet®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories in United States.

BRCA1, MTHFR, UBE3A, VHL, MUTYH, TP53, MCCC1, MCCC2, AARS2, ABCB11, ABCB4, ABHD12, ACACA, ACAD9, ACADM, ACADS, AGL, ACADVL, ACAT1, ZNF513 , (...)

View the complete list with 617 more genes
Specificity
1 %
Genes
100 %
MFRP Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

MFRP
Specificity
100 %
Genes
100 %
MFRP Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories in United States.

MFRP
Specificity
100 %
Genes
100 %
MFRP Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

MFRP
Specificity
100 %
Genes
100 %
MFRP Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

MFRP
Specificity
100 %
Genes
100 %
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 %
Retinitis Pigmentosa Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

ABHD12, ZNF513, AIPL1, BEST1, NEUROD1, SPATA7, PRKCG, CHM, RP1, ABCA4, MFRP, ARL6, CEP290, CLRN1, TTC8, USH2A, PRPH2, TULP1, SAG, RPGRIP1 , (...)

View the complete list with 72 more genes
Specificity
2 %
Genes
100 %
Anophthalmia/microphthalmia.

By Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet in Denmark.

RAX, ABCB6, MFRP, OTX2, NHS, STRA6, HCCS, BCOR, SIX6, SOX2, PAX2, PORCN, COL4A1, TFAP2A, GLI3, GDF6, FOXE3, GJA1, RARB, VAX1 , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
100 %
MFRP. Complete sequencing.

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

MFRP
Specificity
100 %
Genes
100 %
Microphthalmia (NGS panel for 26 genes).

By CGC Genetics in Portugal.

RAX, ABCB6, MFRP, OTX2, SHH, STRA6, HCCS, BCOR, SIX6, SOX2, CHD7, NAA10, MITF, GDF6, RARB, VAX1, FREM1, VSX2, BMP4, GDF3 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %
Nanophthalmia (sequence analysis of MFRP gene).

By CGC Genetics in Portugal.

MFRP
Specificity
100 %
Genes
100 %
Nanophthalmia (sequence analysis of MFRP gene).

By CGC Genetics in Portugal.

MFRP
Specificity
100 %
Genes
100 %
MFRP-Related Oculopathy via the MFRP Gene.

By PreventionGenetics PreventionGenetics in United States.

MFRP
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 %
Autosomal Recessive Retinitis Pigmentosa Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ABHD12, ZNF513, AIPL1, BEST1, NEUROD1, SPATA7, RP1, INPP5E, ABCA4, MFRP, ARL6, CEP290, CLRN1, TTC8, USH2A, TULP1, SAG, RPGRIP1, RPE65, RLBP1 , (...)

View the complete list with 39 more genes
Specificity
2 %
Genes
100 %
Retinitis Pigmentosa (includes RPGR ORF15) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ABHD12, ZNF513, AIPL1, BEST1, NEUROD1, SPATA7, PRKCG, CHM, RP1, INPP5E, ABCA4, CACNA1F, MFRP, ARL6, CEP290, CLRN1, TTC8, USH2A, PRPH2, TULP1 , (...)

View the complete list with 60 more genes
Specificity
2 %
Genes
100 %
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, C12orf65, INVS, NEUROD1, SPATA7, MMACHC, FBLN5, LRP5, COL2A1, PRKCG, CHM, PDZD7, RP1, INPP5E, AMACR , (...)

View the complete list with 285 more genes
Specificity
1 %
Genes
100 %
Autism Spectrum Disorders Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

FMR1, UBE3A, PTEN, ADSL, MFRP, NDP, MECP2, GAMT, GATM, STXBP1, MAOA, SLC9A6, SGSH, ARX, BRAF, CDKL5, CHD7, DHCR7, FOXG1, KRAS , (...)

View the complete list with 87 more genes
Specificity
1 %
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 %
Microphthalmia-Anophthalmia-Coloboma Complex (MAC).

By MGZ Medical Genetics Center in Germany.

FOXL2, RAX, ABCB6, OCRL, MFRP, NDP, OTX2, CYP1B1, SHH, STRA6, HCCS, BCOR, SIX6, SOX2, HESX1, PAX2, CHD7, RAB3GAP1, SIX3, VPS13B , (...)

View the complete list with 28 more genes
Specificity
3 %
Genes
100 %
Nanophthalmia type 2.

By Centogene AG - the Rare Disease Company in Germany.

MFRP
Specificity
100 %
Genes
100 %
Microphthalmia, isolated type 5.

By Centogene AG - the Rare Disease Company in Germany.

MFRP
Specificity
100 %
Genes
100 %
Microphthalmy Panel.

By CeGaT GmbH in Germany.

RAX, ABCB6, MFRP, OTX2, SHH, STRA6, HCCS, BCOR, SIX6, SOX2, CHD7, NAA10, GDF6, RBP4, RARB, VAX1, FREM1, VSX2, BMP4, GDF3 , (...)

View the complete list with 6 more genes
Specificity
4 %
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 %
Eye diseases comprehensive panel.

By Asper Biogene Asper Biogene LLC in Estonia.

ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, INVS, OPN1MW, SPATA7, TYRP1, LRP5, COL2A1, VSX1, SLC45A2, PAX6, ZEB1, CHM, TGFBI, PITX3, TYR , (...)

View the complete list with 255 more genes
Specificity
1 %
Genes
100 %
Developmental Eye Disease panel.

By Molecular Vision Laboratory in United States.

RAX, PAX6, PITX3, ABCB6, FOXC1, PITX2, MFRP, NDP, OTX2, CYP1B1, SHH, CRX, STRA6, BCOR, SIX6, SOX2, HESX1, PAX2, CHD7, FKTN , (...)

View the complete list with 39 more genes
Specificity
2 %
Genes
100 %
Retinal Dystrophy Panel.

By Molecular Vision Laboratory in United States.

ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, C12orf65, INVS, OPN1MW, OPN1LW, NEUROD1, SPATA7, MMACHC, LRP5, CHM, PDZD7, RP1, INPP5E, AMACR, OPA1 , (...)

View the complete list with 267 more genes
Specificity
1 %
Genes
100 %
MVL Vision Panel.

By Molecular Vision Laboratory in United States.

ZNF513, USH1G, USH1C, BEST1, C12orf65, INVS, OPN1MW, OPN1LW, NEUROD1, SPATA7, MMACHC, LRP5, CHM, PDZD7, RP1, INPP5E, OPA1, WFS1, CC2D2A, ELOVL4 , (...)

View the complete list with 248 more genes
Specificity
1 %
Genes
100 %
Invitae Microphthalmia/Anophthalmia Disorders Panel.

By Invitae in United States.

RAX, MFRP, OTX2, SHH, STRA6, BCOR, SOX2, PAX2, GDF6, FOXE3, VSX2, BMP4, PRSS56, ALDH1A3, PXDN
Specificity
7 %
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 %
Anophthalmia/Microphthalmia/Anterior Segment Dysgenesis/Anomaly: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

PAX6, PITX3, FOXC1, PITX2, MFRP, NDP, OTX2, CYP1B1, STRA6, HCCS, BCOR, SOX2, COL4A1, FOXE3, VAX1, FREM1, VSX2, BMP4, B3GLCT, GRIP1 , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
100 %
Eye Disorders: Comprehensive Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, INVS, SPATA7, TYRP1, LRP5, COL2A1, OCA2, SLC45A2, WT1, PAX6, CHM, PITX3, TYR, RP1, GPR143 , (...)

View the complete list with 190 more genes
Specificity
1 %
Genes
100 %
Anophthalmia/Microphthalmia/Anterior Segment Dysgenesis/Anomaly: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

PAX6, PITX3, FOXC1, PITX2, MFRP, NDP, OTX2, CYP1B1, STRA6, HCCS, BCOR, SOX2, COL4A1, FOXE3, VAX1, FREM1, VSX2, BMP4, B3GLCT, GRIP1 , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
100 %
Eye Disorders: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, INVS, SPATA7, TYRP1, LRP5, COL2A1, OCA2, SLC45A2, WT1, PAX6, CHM, PITX3, TYR, PDZD7, RP1 , (...)

View the complete list with 187 more genes
Specificity
1 %
Genes
100 %
Eye Disorders NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

ZNF513, AIPL1, USH1C, BEST1, INVS, SPATA7, COL2A1, PAX6, CHM, RB1, RP1, OPTN, OPA1, WFS1, CC2D2A, FOXC1, ELOVL4, PITX2, ABCA4, JAG1 , (...)

View the complete list with 118 more genes
Specificity
1 %
Genes
100 %
MFRP.

By Fulgent Genetics Fulgent Genetics in United States.

MFRP
Specificity
100 %
Genes
100 %
Retinal Dystrophy Panel.

By Blueprint Genetics in Finland.

ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, INVS, SPATA7, MMACHC, LRP5, COL2A1, PRKCG, CHM, PDZD7, RP1, INPP5E, OPA1, WFS1, CC2D2A, ELOVL4 , (...)

View the complete list with 240 more genes
Specificity
1 %
Genes
100 %
Retinitis Pigmentosa Panel.

By Blueprint Genetics in Finland.

ABHD12, ZNF513, AIPL1, USH1C, BEST1, SPATA7, PRKCG, CHM, RP1, INPP5E, ABCA4, MFRP, ARL6, CEP290, CLRN1, TTC8, USH2A, PRPH2, TULP1, SAG , (...)

View the complete list with 90 more genes
Specificity
1 %
Genes
100 %
Microphthalmia, Anophthalmia and Anterior Segment Dysgenesis Panel.

By Blueprint Genetics in Finland.

FOXL2, RAX, PAX6, ABCB6, OCRL, FOXC1, PITX2, MFRP, NDP, OTX2, CYP1B1, SHH, STRA6, HCCS, BCOR, SIX6, SOX2, HESX1, PAX2, CHD7 , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
100 %
Isolated anophthalmia - microphthalmia type 6.

By Bioarray in Spain.

MFRP
Specificity
100 %
Genes
100 %
ANOPHTHALMIA/ MICROPHTALMIA: NGS PANEL.

By Laboratorio de Genetica Clinica SL in Spain.

RAX, ABCB6, MFRP, OTX2, SHH, STRA6, HCCS, BCOR, SIX6, SOX2, NAA10, GDF6, RARB, VSX2, CRYBA4, BMP4, GDF3, PRSS56, TENM3, ALDH1A3 , (...)

View the complete list with 3 more genes
Specificity
5 %
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 %

Alternate names

Microphthalmia, Isolated 5; Mcop5 Is also known as microphthalmia, posterior, with retinitis pigmentosa, foveoschisis, and optic disc drusen;nanophtalmos-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome.


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