Details of Disease

General Information of Disease (ID: DISQQJMC)

• Disease Name: Isolated microphthalmia 5
• Synonyms: microphthalmia, isolated 5; microphthalmia, posterior, with retinitis pigmentosa, foveoschisis, and optic Disc drusen; MCOP5; MFRP isolated microphthalmia; posterior microphthalmia with retinitis pigmentosa, foveoschisis and optic disk drusen; Nanophtalmos-retinitis pigmentosa-foveoschisis-optic disk drusen syndrome; isolated microphthalmia 5; Nanophtalmos-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome; posterior microphthalmia with retinitis pigmentosa, foveoschisis and optic disc drusen; microphthalmia-retinitis pigmentosa-foveoschisis-optic disk drusen syndrome; isolated microphthalmia type 5; microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome; isolated microphthalmia caused by mutation in MFRP; microphthalmia, isolated type 5
• Definition: Any isolated microphthalmia in which the cause of the disease is a mutation in the MFRP gene.
• Disease Hierarchy:
  DISLGR9K: Isolated microphthalmia
  DISQQJMC: Isolated microphthalmia 5
• Disease Identifiers:
  MONDO ID: MONDO_0012605
  MESH ID: C567024
  UMLS CUI: C1970236
  OMIM ID: 611040
  MedGen ID: 410021
  Orphanet ID: 251279

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MFRP	OTHY9ZA5	Definitive	Autosomal recessive	[1]

References

• [1] A new autosomal recessive syndrome consisting of posterior microphthalmos, retinitis pigmentosa, foveoschisis, and optic disc drusen is caused by a MFRP gene mutation. Mol Vis. 2006 Dec 4;12:1483-9.