Details of Disease

General Information of Disease (ID: DIS132JP)

• Disease Name: Uveal coloboma-cleft lip and palate-intellectual disability
• Synonyms: coloboma, cleft lip/palate and intellectual disability syndrome; coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or intellectual disability; COB1; uveal coloboma-cleft lip/palate-intellectual disability syndrome; coloboma-microphthalmos syndrome; coloboma-microphthalmos syndrome associated with sensorineural hearing loss, hematuria, and cleft lip/palate; uveal coloboma-cleft lip/palate-mental retardation syndrome; coloboma, cleft lip/palate and mental retardation syndrome; coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation; uveal coloboma-cleft lip and palate-intellectual disability
• Definition: Uveal coloboma-cleft lip and palate-intellectual disability is characterized by coloboma of the iris, bilateral cleft lip and palate, and intellectual deficiency of varying degree. A wide variability in clinical expression is observed. Some patients also present with microphthalmia, cataract, glaucoma, ptosis, sensorineural hearing loss and haematuria. To date, 12 cases have been described from three generations of a single family. Transmission is autosomal dominant.
• Disease Hierarchy:
  DISYKSRF: Genetic disease
  DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
  DIS132JP: Uveal coloboma-cleft lip and palate-intellectual disability
• Disease Identifiers:
  MONDO ID: MONDO_0007355
  UMLS CUI: C3805432
  OMIM ID: 120433
  MedGen ID: 811762
  Orphanet ID: 1473

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
YAP1	OTS78EC3	Strong	Autosomal dominant	[1]

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
YAP1	TT8UN2D	Strong	Autosomal dominant	[1]
YAP1	TT8UN2D	Strong	Biomarker	[2]

References

• [1] Defects in yolk sac vasculogenesis, chorioallantoic fusion, and embryonic axis elongation in mice with targeted disruption of Yap65. Mol Cell Biol. 2006 Jan;26(1):77-87. doi: 10.1128/MCB.26.1.77-87.2006.
• [2] Novel heterozygous mutation in YAP1 in a family with isolated ocular colobomas. Ophthalmic Genet. 2017 May-Jun;38(3):281-283. doi: 10.1080/13816810.2016.1188122. Epub 2016 Jun 7.