Microphthalmia, Isolated 1; Mcop1

Description

Microphthalmia designates a heterogeneous group of ocular malformations with a more or less evident reduction in the size of the eyeball. Additional features include high hypermetropia and a short axial length. The size of the anterior chamber and the cornea may also be reduced, whereas the lens is normal or thicker than usual for age (summary by Fuchs et al., 2005). Genetic Heterogeneity of Isolated MicrophthalmiaMCOP1 has been mapped to chromosome 14q32. MCOP2 (OMIM ) is caused by mutation in the CHX10 gene (OMIM ) on chromosome 14q24. MCOP3 (OMIM ) is caused by mutation in the RAX gene (OMIM ) on chromosome 18q21.3. MCOP4 (OMIM ) is caused by mutation in the GDF6 gene (OMIM ) on chromosome 8q22.1. MCOP5 (OMIM ) is caused by mutation in the MFRP gene (OMIM ) on chromosome 11q23. MCOP6 (OMIM ) is caused by mutation in the PRSS56 gene (OMIM ) on chromosome 2q37.1. MCOP7 (OMIM ) is caused by mutation in the GDF3 gene (OMIM ) on chromosome 12p13.1. MCOP8 (OMIM ) is caused by mutation in the ALDH1A3 gene (OMIM ) on chromosome 15q26.

Clinical Features

Phenotypes and symptoms related to Microphthalmia, Isolated 1; Mcop1

  • Microphthalmia
  • Glaucoma
  • Coloboma
  • Hypermetropia
  • Anophthalmia
  • High hypermetropia
  • Sclerocornea
  • Corneal neovascularization
  • Scleral staphyloma
  • Anterior staphyloma

Incidence and onset information

— Based on the latest data available Microphthalmia, Isolated 1; Mcop1 have a estimated birth prevalence of 5.3 per 100k worldwide.
No data available about the known clinical features onset.

Alternative names

Microphthalmia, Isolated 1; Mcop1 Is also known as anophthalmia, clinical, isolated, microphthalmos, autosomal recessive, mcop.

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.


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Microphthalmia, Isolated 1; Mcop1 Recommended genes panels

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

By Baylor Miraca Genetics Laboratories (United States).

RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)

View the complete list with 612 more genes
Specificity
1 %
Genes
58 %
Leber Congential Amaurosis Panel (MitomeNGS).

By Baylor Miraca Genetics Laboratories (United States).

RPE65, TULP1, RPGRIP1, CABP4, NMNAT1, RD3, RDH12, SPATA7, CRB1, CRX, IQCB1, CEP290, LCA5, AIPL1, GUCY2D, IMPDH1, KCNJ13, LRAT, OTX2
Specificity
6 %
Genes
15 %
OTX2 Familial Mutation/Variant Analysis.

By Baylor Miraca Genetics Laboratories (United States).

OTX2
Specificity
100 %
Genes
15 %
OTX2 Prenatal Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

OTX2
Specificity
100 %
Genes
15 %
OTX2 Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

OTX2
Specificity
100 %
Genes
15 %
Leber Congenital Amaurosis Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RPE65, TULP1, RPGRIP1, CABP4, NMNAT1, CLUAP1, RD3, RDH12, SPATA7, CRB1, CRX, IQCB1, CEP290, IFT140, LCA5, AIPL1, DTHD1, GDF6, GUCY2D, IMPDH1 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
15 %
Macular Degeneration Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RPGR, TIMP3, BEST1, C1QTNF5, ELOVL4, RP1L1, CDH3, RAX2, IMPG2, HMCN1, CNGB3, CTNNA1, MFSD8, DRAM2, EFEMP1, ABCA4, FBLN5, FSCN2, GUCA1B, IMPG1 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
15 %
Microphthalmia, Pituitary Hormone Deficiency, Retinal Dystrophy - OTX2 Sequencing.

By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado (United States).

OTX2
Specificity
100 %
Genes
15 %

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Sources and references

You can check the following sources for additional information.

MESH OMIM ORPHANET Rare Disease Search Engine

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