Details of Disease | DrugMAP

General Information of Disease (ID: DISR9DCH)

Disease Name	Coloboma of optic nerve
Synonyms	morning glory Disc anomaly; coloboma of optic disc; optic nerve head pits, bilateral congenital; congenital coloboma of the optic nerve; optic nerve coloboma; coloboma of optic nerve (disease); coloboma of optic papilla
Disease Hierarchy	DISP39N5: Coloboma DISD715V: Hereditary neurological disease DISSCGXJ: Visual pathway disorder DISR9DCH: Coloboma of optic nerve
Disease Identifiers	MONDO ID MONDO_0007354 MESH ID C535970 UMLS CUI C0155299 OMIM ID 120430 MedGen ID 57832 HPO ID HP:0000588 Orphanet ID 98947 SNOMED CT ID 44295002

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
KIF26B	TTQWICZ	Strong	CausalMutation	[1]
TFAP2A	TTDY4BS	Strong	CausalMutation	[2]
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This Disease Is Related to 2 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC25A21	DT2UQYR	Limited	Genetic Variation	[3]
ABCB6	DTF9Y2V	Strong	GermlineCausalMutation	[4]
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This Disease Is Related to 4 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SPINT2	OTQV7BKQ	Limited	Genetic Variation	[5]
SALL2	OTQWI68Q	Disputed	GermlineCausalMutation	[6]
FZD5	OTXFFY56	Strong	GermlineCausalMutation	[7]
PAX6	OTOC9876	Definitive	Autosomal dominant	[8]
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References

1	Association of PAX2 and Other Gene Mutations with the Clinical Manifestations of Renal Coloboma Syndrome.PLoS One. 2015 Nov 16;10(11):e0142843. doi: 10.1371/journal.pone.0142843. eCollection 2015.
2	A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A.Ann Hum Genet. 2015 Mar;79(2):148-52. doi: 10.1111/ahg.12098. Epub 2015 Jan 15.
3	PAX6 missense mutations associated in patients with optic nerve malformation.Mol Vis. 2006 Mar 30;12:236-42.
4	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.
5	Congenital sodium diarrhea and chorioretinal coloboma with optic disc coloboma in a patient with biallelic SPINT2 mutations, including p.(Tyr163Cys).Am J Med Genet A. 2018 Apr;176(4):997-1000. doi: 10.1002/ajmg.a.38637.
6	Mutation of SALL2 causes recessive ocular coloboma in humans and mice. Hum Mol Genet. 2014 May 15;23(10):2511-26. doi: 10.1093/hmg/ddt643. Epub 2014 Jan 9.
7	A secreted WNT-ligand-binding domain of FZD5 generated by a frameshift mutation causes autosomal dominant coloboma.Hum Mol Genet. 2016 Apr 1;25(7):1382-91. doi: 10.1093/hmg/ddw020. Epub 2016 Jan 24.
8	Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformations. Am J Hum Genet. 2003 Jun;72(6):1565-70. doi: 10.1086/375555. Epub 2003 Apr 29.