GTR Home > Conditions/Phenotypes > Anophthalmia-microphthalmia syndrome


Excerpted from the GeneReview: Microphthalmia/Anophthalmia/Coloboma Spectrum
Microphthalmia, anophthalmia, and coloboma comprise the MAC spectrum of ocular malformations. Microphthalmia refers to a globe with a total axial length that is at least two standard deviations below the mean for age. Anophthalmia refers to complete absence of the globe in the presence of ocular adnexa (eyelids, conjunctiva, and lacrimal apparatus). Coloboma refers to the ocular malformations that result from failure of closure of the optic fissure. Chorioretinal coloboma refers to coloboma of the retina and choroid. Iris coloboma causes the iris to appear keyhole-shaped. Microphthalmia, anophthalmia, and coloboma may be unilateral or bilateral; when bilateral they may occur in any combination.

Available tests

29 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Genes See tests for all associated and related genes

  • Also known as: BMP2B, BMP2B1, MCOPS6, OFC11, ZYME, BMP4
    Summary: bone morphogenetic protein 4

  • Also known as: ES1, GATD3, GT335, HES1, KNPH, KNPI, C21orf33
    Summary: chromosome 21 open reading frame 33

  • Also known as: CTRCT23, CYRBA4, MCOPCT4, CRYBA4
    Summary: crystallin beta A4

  • Also known as: DACH, DACH1
    Summary: dachshund family transcription factor 1

  • Also known as: ANF, CPHD5, RPX, HESX1
    Summary: HESX homeobox 1

  • Also known as: AMCBX1, FIP-3, FIP3, Fip3p, IKK-gamma, IKKAP1, IKKG, IMD33, IP, IP1, IP2, IPD2, NEMO, ZC2HC9, IKBKG
    Summary: inhibitor of nuclear factor kappa B kinase subunit gamma

  • Also known as: CTRCT40, CXN, SCML1, NHS
    Summary: NHS actin remodeling regulator

  • Also known as: CPHD6, MCOPS5, OTX2
    Summary: orthodenticle homeobox 2

  • Also known as: FSGS7, PAPRS, PAX2
    Summary: paired box 2

  • Also known as: AN, AN2, ASGD5, D11S812E, FVH1, MGDA, WAGR, PAX6
    Summary: paired box 6

  • Also known as: ARP1, ASGD4, Brx1, IDG2, IGDS, IGDS2, IHG2, IRID2, Otlx2, PTX2, RGS, RIEG, RIEG1, RS, PITX2
    Summary: paired like homeodomain 2

  • Also known as: ASGD1, ASMD, ASOD, CTPP4, CTRCT11, PTX3, PITX3
    Summary: paired like homeodomain 3

  • Also known as: DHOF, FODH, MG61, PORC, PPN, PORCN
    Summary: porcupine O-acyltransferase

  • Also known as: MCOP3, RX, RAX
    Summary: retina and anterior neural fold homeobox

  • Also known as: HPE2, SIX3
    Summary: SIX homeobox 3

  • Also known as: AP-2, AP-2alpha, AP2TF, BOFS, TFAP2, TFAP2A
    Summary: transcription factor AP-2 alpha

  • Also known as: MCOPS11, VAX1
    Summary: ventral anterior homeobox 1

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