Details of Disease

General Information of Disease (ID: DISLSEUJ)

• Disease Name: Microphthalmia, isolated, with coloboma
• Synonyms: microphthalmos bilateral, colobomatous orbital cyst; microphthalmia associated with colobomatous cyst; MCOPCB1; microphthalmia-anophthalmia-coloboma syndrome; microphthalmia with colobomatous cyst; colobomatous microphthalmia; MAC
• Definition: A developmental disorder of the eye characterized by unilateral or bilateral microphthalmia associated with ocular coloboma.
• Disease Hierarchy:
  DISLGR9K: Isolated microphthalmia
  DISP39N5: Coloboma
  DISA55ZA: Isolated anophthalmia-microphthalmia syndrome
  DISLSEUJ: Microphthalmia, isolated, with coloboma
• Disease Identifiers:
  MONDO ID: MONDO_0000170
  MESH ID: C537462
  UMLS CUI: C2931500
  MedGen ID: 444071
  Orphanet ID: 98938

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 12 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
VSX2	OTW2E47S	Supportive	Autosomal dominant	[1]
ABCB6	OTPGZFES	Supportive	Autosomal dominant	[5]
GDF3	OTD3KGJK	Supportive	Autosomal dominant	[6]
PORCN	OT79GAY2	Supportive	Autosomal dominant	[2]
RBP4	OTL9RBH5	Supportive	Autosomal dominant	[3]
SHH	OTOG2BXF	Supportive	Autosomal dominant	[4]
STRA6	OT2IDF27	Supportive	Autosomal dominant	[7]
TENM3	OTWY13GR	Supportive	Autosomal dominant	[8]
C12orf57	OT7V1MLD	Strong	Genetic Variation	[9]
HMGB3	OTCJ2EZY	Strong	Genetic Variation	[10]
RAX	OTJ3YCE7	Strong	Genetic Variation	[11]
TENM1	OTSKSU4V	Strong	Genetic Variation	[12]

This Disease Is Related to 3 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
PORCN	TTNFBTO	Supportive	Autosomal dominant	[2]
RBP4	TT0C8BY	Supportive	Autosomal dominant	[3]
SHH	TTIENCJ	Supportive	Autosomal dominant	[4]

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
ABCB6	DTF9Y2V	Supportive	Autosomal dominant	[5]

References

• [1] CHX10 mutations cause non-syndromic microphthalmia/ anophthalmia in Arab and Jewish kindreds. Hum Genet. 2004 Sep;115(4):302-9. doi: 10.1007/s00439-004-1154-2.
• [2] Non-syndromic anophthalmia/microphthalmia can be caused by a PORCN variant inherited in X-linked recessive manner. Am J Med Genet A. 2021 Jan;185(1):250-255. doi: 10.1002/ajmg.a.61938. Epub 2020 Oct 27.
• [3] Biochemical Basis for Dominant Inheritance, Variable Penetrance, and Maternal Effects in RBP4 Congenital Eye Disease. Cell. 2015 Apr 23;161(3):634-646. doi: 10.1016/j.cell.2015.03.006.
• [4] Novel mutation in sonic hedgehog in non-syndromic colobomatous microphthalmia. Am J Med Genet A. 2003 Jan 30;116A(3):215-21. doi: 10.1002/ajmg.a.10884.
• [5] ABCB6 mutations cause ocular coloboma. Am J Hum Genet. 2012 Jan 13;90(1):40-8. doi: 10.1016/j.ajhg.2011.11.026. Epub 2012 Jan 5.
• [6] Mutation of the bone morphogenetic protein GDF3 causes ocular and skeletal anomalies. Hum Mol Genet. 2010 Jan 15;19(2):287-98. doi: 10.1093/hmg/ddp496. Epub 2009 Oct 28.
• [7] First implication of STRA6 mutations in isolated anophthalmia, microphthalmia, and coloboma: a new dimension to the STRA6 phenotype. Hum Mutat. 2011 Dec;32(12):1417-26. doi: 10.1002/humu.21590. Epub 2011 Sep 29.
• [8] Homozygous null mutation in ODZ3 causes microphthalmia in humans. Genet Med. 2012 Nov;14(11):900-4. doi: 10.1038/gim.2012.71. Epub 2012 Jul 5.
• [9] Mutations in c12orf57 cause a syndromic form of colobomatous microphthalmia. Am J Hum Genet. 2013 Mar 7;92(3):387-91. doi: 10.1016/j.ajhg.2013.01.008. Epub 2013 Feb 28.
• [10] Identification of an HMGB3 frameshift mutation in a family with an X-linked colobomatous microphthalmia syndrome using whole-genome and X-exome sequencing.JAMA Ophthalmol. 2014 Oct;132(10):1215-20. doi: 10.1001/jamaophthalmol.2014.1731.
• [11] Mutations in the LHX2 gene are not a frequent cause of micro/anophthalmia.Mol Vis. 2010 Dec 18;16:2847-9.
• [12] Confirmation of TENM3 involvement in autosomal recessive colobomatous microphthalmia.Am J Med Genet A. 2016 Jul;170(7):1895-8. doi: 10.1002/ajmg.a.37667. Epub 2016 Apr 22.