Details of Disease

Disease Name

congenital ocular coloboma; coloboma of macula; ocular coloboma; coloboma of the eye; coloboma of eye

Definition

An abnormality in which a part of a structure in one or both eyes is missing.

Disease Hierarchy

DISB52BH: Eye disorder

DISP39N5: Coloboma

Disease Identifiers

MONDO ID

MONDO_0001476

MESH ID

D003103

UMLS CUI

C0009363

OMIM ID

120200

MedGen ID

1046

HPO ID

HP:0000589

SNOMED CT ID

93390002

General Information of Disease (ID: DISP39N5)

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 12 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
C3AR1	TTI6B3F	Limited	Biomarker	[1]
GJA8	TTJ7ATH	Limited	Genetic Variation	[2]
RARA	TTW38KT	Limited	Genetic Variation	[3]
ACTG1	TTGAZF9	Strong	Genetic Variation	[4]
BRPF1	TTT46BN	Strong	Genetic Variation	[5]
CEP290	TT3XBOV	Strong	Biomarker	[6]
CRYAA	TT8CWJG	Strong	Genetic Variation	[7]
FFAR4	TT08JVB	Strong	CausalMutation	[8]
PIGL	TTQA8DT	Strong	Genetic Variation	[9]
RBP4	TT0C8BY	Strong	CausalMutation	[8]
SNAP25	TTYQWA0	Strong	Genetic Variation	[10]
YAP1	TT8UN2D	Strong	Genetic Variation	[11]
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⏷ Show the Full List of 12 DTT(s)

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
ABCB6	DTF9Y2V	Strong	Genetic Variation	[12]
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This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
B4GALT7	DEKRS6L	Strong	Genetic Variation	[13]
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This Disease Is Related to 35 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ALX3	OTXZ25PZ	Limited	Biomarker	[14]
CHD7	OTHNIZWZ	Limited	Genetic Variation	[15]
IPO13	OT887N3O	Limited	Biomarker	[16]
OLFM2	OT7TSF7I	Limited	Biomarker	[17]
PACS1	OT9TMQL3	Limited	Genetic Variation	[18]
TMEM67	OTME92T5	Limited	Genetic Variation	[19]
TMX3	OTHHW2B4	Limited	Genetic Variation	[20]
ACTB	OT1MCP2F	moderate	Genetic Variation	[4]
FOXE3	OTAUDKC1	moderate	Genetic Variation	[12]
GDF3	OTD3KGJK	moderate	Genetic Variation	[12]
GDF6	OTERXWJU	moderate	Genetic Variation	[12]
RNF2	OTFPLOIN	moderate	Biomarker	[21]
SALL2	OTQWI68Q	moderate	Biomarker	[22]
ALDH1A3	OT1C9NKQ	Strong	Genetic Variation	[12]
ALDH7A1	OTV57BZD	Strong	Biomarker	[23]
ATOH7	OTUBW5PV	Strong	Genetic Variation	[12]
ATXN7	OTL3YF1H	Strong	Biomarker	[24]
C12orf57	OT7V1MLD	Strong	Genetic Variation	[12]
CASK	OT8EF7ZF	Strong	Biomarker	[25]
CDON	OT81X593	Strong	Biomarker	[26]
KDM6A	OTZM3MJJ	Strong	Biomarker	[25]
KIF21A	OT511XD9	Strong	Biomarker	[27]
LAMB1	OT6J9LJR	Strong	Biomarker	[28]
LCP1	OTK61F2A	Strong	Genetic Variation	[4]
MAB21L2	OTZM5VMX	Strong	Biomarker	[29]
MAF	OT1GR3IZ	Strong	Genetic Variation	[30]
NDP	OTGDJ4US	Strong	Genetic Variation	[25]
OTX2	OTTV05B1	Strong	Genetic Variation	[12]
PAX2	OTKP1N8F	Strong	Genetic Variation	[31]
RAX	OTJ3YCE7	Strong	Genetic Variation	[32]
SCRIB	OTW4N3FV	Strong	Genetic Variation	[33]
SLBP	OTVYYQRT	Strong	Biomarker	[34]
STRA6	OT2IDF27	Strong	Genetic Variation	[12]
TBX2	OTTOT7A9	Strong	Genetic Variation	[35]
TENM3	OTWY13GR	Strong	Genetic Variation	[12]
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⏷ Show the Full List of 35 DOT(s)

References

1	Complement component C3aR constitutes a novel regulator for chick eye morphogenesis.Dev Biol. 2017 Aug 1;428(1):88-100. doi: 10.1016/j.ydbio.2017.05.019. Epub 2017 May 30.
2	New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies.Hum Genet. 2019 Sep;138(8-9):1027-1042. doi: 10.1007/s00439-018-1875-2. Epub 2018 Feb 20.
3	Syndromic chorioretinal coloboma associated with heterozygous de novo RARA mutation affecting an amino acid critical for retinoic acid interaction.Clin Genet. 2019 Oct;96(4):371-375. doi: 10.1111/cge.13611. Epub 2019 Aug 6.
4	A recurrent de novo mutation in ACTG1 causes isolated ocular coloboma.Hum Mutat. 2017 Aug;38(8):942-946. doi: 10.1002/humu.23246. Epub 2017 Jun 6.
5	Novel BRPF1 mutation in a boy with intellectual disability, coloboma, facial nerve palsy and hypoplasia of the corpus callosum.Eur J Med Genet. 2019 Aug;62(8):103691. doi: 10.1016/j.ejmg.2019.103691. Epub 2019 Jun 6.
6	Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.J Med Genet. 2015 Aug;52(8):514-22. doi: 10.1136/jmedgenet-2015-103087. Epub 2015 Jun 19.
7	Clinical variability of autosomal dominant cataract, microcornea and corneal opacity and novel mutation in the alpha A crystallin gene (CRYAA).Am J Med Genet A. 2008 Apr 1;146A(7):833-42. doi: 10.1002/ajmg.a.32236.
8	Panel-based whole exome sequencing identifies novel mutations in microphthalmia and anophthalmia patients showing complex Mendelian inheritance patterns.Mol Genet Genomic Med. 2017 Nov;5(6):709-719. doi: 10.1002/mgg3.329. Epub 2017 Aug 21.
9	A new autosomal recessive syndrome of ocular colobomas, ichthyosis, brain malformations and endocrine abnormalities in an inbred Emirati family.Am J Med Genet A. 2008 Apr 1;146A(7):813-9. doi: 10.1002/ajmg.a.32114.
10	The Association of SNAP25 Gene Polymorphisms in Attention Deficit/Hyperactivity Disorder: a Systematic Review and Meta-Analysis.Mol Neurobiol. 2017 Apr;54(3):2189-2200. doi: 10.1007/s12035-016-9810-9. Epub 2016 Mar 3.
11	New variant and expression studies provide further insight into the genotype-phenotype correlation in YAP1-related developmental eye disorders.Sci Rep. 2017 Aug 11;7(1):7975. doi: 10.1038/s41598-017-08397-w.
12	The genetic architecture of microphthalmia, anophthalmia and coloboma. Eur J Med Genet. 2014 Aug;57(8):369-80. doi: 10.1016/j.ejmg.2014.05.002. Epub 2014 May 22.
13	Corneal clouding, cataract, and colobomas with a novel missense mutation in B4GALT7-a review of eye anomalies in the linkeropathy syndromes.Am J Med Genet A. 2016 Oct;170(10):2711-8. doi: 10.1002/ajmg.a.37809. Epub 2016 Jun 20.
14	Midline facial defects with ocular colobomata.Am J Med Genet. 1990 Sep;37(1):23-7. doi: 10.1002/ajmg.1320370107.
15	Chromodomain Helicase DNA-Binding Protein 7 Is Suppressed in the Perinecrotic/Ischemic Microenvironment and Is a Novel Regulator of Glioblastoma Angiogenesis.Stem Cells. 2019 Apr;37(4):453-462. doi: 10.1002/stem.2969. Epub 2019 Jan 24.
16	Mutation of IPO13 causes recessive ocular coloboma, microphthalmia, and cataract.Exp Mol Med. 2018 Apr 27;50(4):1-11. doi: 10.1038/s12276-018-0079-0.
17	Identification and functional characterisation of genetic variants in OLFM2 in children with developmental eye disorders.Hum Genet. 2017 Jan;136(1):119-127. doi: 10.1007/s00439-016-1745-8. Epub 2016 Nov 14.
18	Ocular manifestations of PACS1 mutation.J AAPOS. 2018 Aug;22(4):323-325. doi: 10.1016/j.jaapos.2017.12.008. Epub 2018 Mar 14.
19	Characteristics of Liver Disease in 100 Individuals With Joubert Syndrome Prospectively Evaluated at a Single Center.J Pediatr Gastroenterol Nutr. 2018 Mar;66(3):428-435. doi: 10.1097/MPG.0000000000001816.
20	A male with unilateral microphthalmia reveals a role for TMX3 in eye development.PLoS One. 2010 May 11;5(5):e10565. doi: 10.1371/journal.pone.0010565.
21	Bcl6a function is required during optic cup formation to prevent p53-dependent apoptosis and colobomata.Hum Mol Genet. 2013 Sep 1;22(17):3568-82. doi: 10.1093/hmg/ddt211. Epub 2013 May 12.
22	Developmental SALL2 transcription factor: a new player in cancer.Carcinogenesis. 2017 Jul 1;38(7):680-690. doi: 10.1093/carcin/bgx036.
23	aldh7a1 regulates eye and limb development in zebrafish.PLoS One. 2014 Jul 8;9(7):e101782. doi: 10.1371/journal.pone.0101782. eCollection 2014.
24	Loss of zebrafish Ataxin-7, a SAGA subunit responsible for SCA7 retinopathy, causes ocular coloboma and malformation of photoreceptors.Hum Mol Genet. 2019 Mar 15;28(6):912-927. doi: 10.1093/hmg/ddy401.
25	A case of exudative vitreoretinopathy and chorioretinal coloboma associated with microcephaly in a female with contiguous Xp11.3-11.4 deletion.Ophthalmic Genet. 2018 Jun;39(3):396-398. doi: 10.1080/13816810.2018.1443342. Epub 2018 Apr 4.
26	Homozygous variants in MAPRE2 and CDON in individual with skin folds, growth delay, retinal coloboma, and pyloric stenosis.Am J Med Genet A. 2019 Dec;179(12):2454-2458. doi: 10.1002/ajmg.a.61355. Epub 2019 Sep 9.
27	Congenital fibrosis of the extraocular muscles type 1, distinctive conjunctival changes and intrapapillary disc colobomata.Ophthalmic Genet. 2009 Jun;30(2):91-5. doi: 10.1080/13816810802697473.
28	Translational bypass of nonsense mutations in zebrafish rep1, pax2.1 and lamb1 highlights a viable therapeutic option for untreatable genetic eye disease.Hum Mol Genet. 2008 Dec 15;17(24):3987-4000. doi: 10.1093/hmg/ddn302. Epub 2008 Sep 22.
29	Zebrafish mab21l2 mutants possess severe defects in optic cup morphogenesis, lens and cornea development.Dev Dyn. 2019 Jul;248(7):514-529. doi: 10.1002/dvdy.44. Epub 2019 May 21.
30	Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma. Hum Mol Genet. 2002 Jan 1;11(1):33-42. doi: 10.1093/hmg/11.1.33.
31	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.
32	Unraveling the genetic cause of a consanguineous family with unilateral coloboma and retinoschisis: expanding the phenotypic variability of RAX mutations.Sci Rep. 2017 Aug 22;7(1):9064. doi: 10.1038/s41598-017-09276-0.
33	PUF60-SCRIB fusion transcript in a patient with 8q24.3 microdeletion and atypical Verheij syndrome.Eur J Med Genet. 2019 Dec;62(12):103587. doi: 10.1016/j.ejmg.2018.11.021. Epub 2018 Nov 23.
34	Abrogation of Stem Loop Binding Protein (Slbp) function leads to a failure of cells to transition from proliferation to differentiation, retinal coloboma and midline axon guidance deficits.PLoS One. 2019 Jan 29;14(1):e0211073. doi: 10.1371/journal.pone.0211073. eCollection 2019.
35	Morphogenetic defects underlie Superior Coloboma, a newly identified closure disorder of the dorsal eye.PLoS Genet. 2018 Mar 9;14(3):e1007246. doi: 10.1371/journal.pgen.1007246. eCollection 2018 Mar.