isolated microphthalmia 6

Summary
Synonym
  • MCOP6
  • posterior nonsyndromic microphthalmia
Definition
An isolated microphthalmia characterized by autosomal recessive inheritance reduction in eye size that is restricted to the posterior segment of the eye, extreme hyperopia, and short axial length that has_material_basis_in homozygous or compound heterozygous mutation in the PRSS56 gene on chromosome 2q37.
Super Class
autosomal recessive disease isolated microphthalmia
External Links
Disease Ontology
DOID:0060835
Mondo Disease Ontology
ORDO
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
220 ALDH1A3 aldehyde dehydrogenase 1 family member A3
The Human Phenotype Ontology
Displaying all 6 entries
HPO ID HPO Term
HP:0000610 Abnormal choroid morphology
HP:0000501 Glaucoma
HP:0008499 High hypermetropia
HP:0000486 Strabismus
HP:0007703 Abnormality of retinal pigmentation
HP:0000568 Microphthalmia
Displaying 1 entry
Gene ID Gene Symbol Description
220 ALDH1A3 aldehyde dehydrogenase 1 family member A3

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024