Microphthalmia, isolated 5

Preferred Label : Microphthalmia, isolated 5;

Symbol : MCOP5;

CISMeF acronym : MCOP5;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Microphthalmia, posterior, with retinitis pigmentosa, foveoschisis, and optic disc drusen;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the membrane-type frizzled-related protein gene (MFRP, 606227.0005);

Prefixed ID : #611040;

Details

Origin ID

611040;

UMLS CUI

C1970236;

Automatic exact mappings (from CISMeF team)
- microphthalmia, posterior, with retinitis pigmentosa, foveoschisis, and optic disc drusen [MeSH concept]
Currated CISMeF NLP mapping
- Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome [ORDO Disease]
- isolated microphthalmia 5 [DO Concept]
- microphthalmia, posterior, with retinitis pigmentosa, foveoschisis, and optic disc drusen [MeSH Supplementary Concept]
DO Cross reference
- isolated microphthalmia 5 [DO Concept]
Genes related to phenotype
- Membrane-type frizzled-related protein [OMIM gene]
HPO term(s)
- Abnormal foveal morphology [HPO term]
- Abnormal light- and dark-adapted electroretinogram [HPO term]
- Abnormal sclera morphology [HPO term]
- Abnormality of skin pigmentation [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bone spicule pigmentation of the retina [HPO term]
- Cataract [HPO term]
- Cystoid macular edema [HPO term]
- Drusen [HPO term]
- Foveoschisis [HPO term]
- Hypermetropia [HPO term]
- Microphthalmia [HPO term]
- Nyctalopia [HPO term]
- Optic disc drusen [HPO term]
- Photophobia [HPO term]
- Reduced visual acuity [HPO term]
- Retinal pigment epithelial atrophy [HPO term]
- Rod-cone dystrophy [HPO term]
- Scleral thickening [HPO term]
- Visual impairment [HPO term]
ORDO concept(s)
- Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome [ORDO Disease]
- isolated microphthalmia 5 [DO Concept]
- microphthalmia, posterior, with retinitis pigmentosa, foveoschisis, and optic disc drusen [MeSH Supplementary Concept]
- microphthalmia, posterior, with retinitis pigmentosa, foveoschisis, and optic disc drusen [MeSH concept]

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