Table 1 Overview of disease associated with non-syndromic (isolated and complex) microphthalmia
Name of the disease | OMIM# of the disease | Cytogenetic location | Associated gene(s) | OMIM# of associated gene(s) |
|---|---|---|---|---|
Microphthalmia, isolated 1; MCOP1 | 251600 | 14q32 | — | — |
Microphthalmia, isolated 2; MCOP2 | 610093 | 14q24.3 | VSX2 | 142993 |
Microphthalmia, isolated 3; MCOP3 | 611038 | 18q21.32 | RAX | 601881 |
Microphthalmia, isolated 4; MCOP4 | 613094 | 8q22.1 | GDF6 | 601147 |
Microphthalmia, isolated 5; MCOP5 | 611040 | 11q23.3 | MFRP | 606227 |
Microphthalmia, isolated 6; MCOP6 | 613517 | 2q37.1 | PRSS56 | 613858 |
Microphthalmia, isolated 7; MCOP7 | 613704 | 12p13.31 | GDF3 | 606522 |
Microphthalmia, isolated 8; MCOP8 | 615113 | 15q26.3 | ALDH1A3 | 600463 |
Microphthalmia, isolated with coloboma 1; MCOPCB1 | 300345 | Chr.X | — | — |
Microphthalmia, isolated with coloboma 2; MCOPCB2 | 605738 | 15q12-q15 | — | — |
Microphthalmia, isolated with coloboma 3; MCOPCB3 | 610092 | 14q24.3 | VSX2 | 142993 |
Microphthalmia, isolated with coloboma 4; MCOPCB4 | 251505 | — | — | — |
Microphthalmia, isolated with coloboma 5; MCOPCB5 | 611638 | 7q36.3 | SHH | 600725 |
Microphthalmia, isolated with coloboma 6, digenic; MCOPCB6 | 613703 | 8q22.1 | GDF6 | 601147 |
Microphthalmia, isolated with coloboma 6; MCOPCB6 | 613703 | 12p13.31 | GDF3 | 606522 |
Microphthalmia, isolated with coloboma 7; MCOPCB7 | 614497 | 2q35 | ABCB6 | 605452 |
Microphthalmia, isolated with coloboma 8; MCOPCB8 | 601186 | 15q24.1 | STRA6 | 610745 |
Microphthalmia, isolated with coloboma 9; MCOPCB9 | 615145 | 4q34.3-35.1 | TENM3 | 610083 |
Microphthalmia, isolated with coloboma 10; MCOPCB10 | 616428 | 10q23.33 | RBP4 | 180250 |
Microphthalmia, isolated with corectopia; MCOPCR | 156900 | — | — | — |
Microphthalmia, isolated with cataract 1; MCOPCT1 | 156850 | 16p13.3 | — | — |
Nanophthalmos 1; NN01 | 600165 | 11p | — | — |
Nanophthalmos 2; NN02 | 609549 | 11q23.3 | MFRP | 606227 |
Nanophthalmos 3; NN03 | 611897 | 2q11-q14 | — | — |
Nanophthalmos 4; NN04 | 615972 | 17q11.2 | TMEM98 | 615949 |
