Microphthalmia, Syndromic 1 (MCOPS1)

Alias:

Lenz Microphthalmia Syndrome

Lenz Microphthalmia

Lenz Dysplasia

Mcops1

Microphthalmia, Syndromic 4

Syndromic Microphthalmia 1

Microphthalmia, Lenz Type

Microphthalmia or Anophthalmos with Associated Anomalies

Microphthalmia, Syndromic 4, Formerly

Microphthalmia, Syndromic, Type 1

Microphthalmia, Syndromic, 1

Syndromic Microphthalmia 4

Lenz Type Microphthalmia

Mcops4, Formerly

Anop1, Formerly

Maa, Formerly

Mcops4

Anop1

Maa

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Microphthalmia, Syndromic 1, also known as lenz microphthalmia syndrome, is related to microphthalmia and microphthalmia, syndromic 2. An important gene associated with Microphthalmia, Syndromic 1 is NAA10 (N-Alpha-Acetyltransferase 10, NatA Catalytic Subunit), and among its related pathways/superpathways are Metapathway biotransformation Phase I and II and FBXL10 enhancement of MAP/ERK signaling in diffuse large B-cell lymphoma. Affiliated tissues include eye and skin, and related phenotypes are microphthalmia and intellectual disability

Related ID：

MALACARDS：MCR263

OMIM：309800

MESH：D008850