Details of Disease

General Information of Disease (ID: DISN43YC)

• Disease Name: Blepharophimosis, ptosis, and epicanthus inversus syndrome
• Synonyms: BPES with ovarian failure; blepharophimosis, ptosis, epicanthus inversus with ovarian failure; BPES, type 1; blepharophimosis, ptosis, and epicanthus inversus syndrome type 1; BPES with Duane retraction syndrome; BPES, type 2; blepharophimosis syndrome type 1; BPES without ovarian failure; BPES with premature ovarian failure; BPES, type I, autosomal recessive; BPES type 1; blepharophimosis, ptosis, epicanthus inversus syndrome; Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome; blepharophimosis, ptosis, and epicanthus inversus; blepharophimosis-epicanthus inversus-ptosis syndrome; blepharophimosis types 1 and 2; blepharophimosis, epicanthus inversus, and ptosis, type 2; BPES; blepharophimosis, epicanthus inversus, and ptosis, type 1; blepharophimosis, ptosis, and epicanthus inversus syndrome
• Definition: Blepharophimosis, Ptosis, and Epicanthus Inversus syndrome (BPES) is an ophthalmic disorder characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus, that can appear associated with (type I) or without premature ovarian failure (POF) (type II).
• Disease Hierarchy:
  DISKPIOJ: Telecanthus
  DIS4V9SY: Inherited primary ovarian failure
  DIS3HIWD: Autosomal dominant disease
  DISN43YC: Blepharophimosis, ptosis, and epicanthus inversus syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0007201
  MESH ID: C562419
  UMLS CUI: C0220663
  OMIM ID: 110100
  MedGen ID: 66312
  Orphanet ID: 126
  SNOMED CT ID: 715391004

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 4 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ADNP	OTEGICWR	Strong	Genetic Variation	[1]
TBX20	OTMPU2XQ	Strong	Biomarker	[2]
FOXL2	OTFRQUYL	Definitive	Autosomal dominant	[3]
OSR2	OTYG371T	Definitive	Biomarker	[4]

References

• [1] Further evidence that a blepharophimosis syndrome phenotype is associated with a specific class of mutation in the ADNP gene.Am J Med Genet A. 2017 Jun;173(6):1631-1634. doi: 10.1002/ajmg.a.38126. Epub 2017 Apr 13.
• [2] Characterization of the human TBX20 gene, a new member of the T-Box gene family closely related to the Drosophila H15 gene.Genomics. 2000 Aug 1;67(3):317-32. doi: 10.1006/geno.2000.6249.
• [3] Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
• [4] Functional evidence implicating FOXL2 in non-syndromic premature ovarian failure and in the regulation of the transcription factor OSR2.J Med Genet. 2009 Jul;46(7):455-7. doi: 10.1136/jmg.2008.065086. Epub 2009 May 7.