MCID: CLB001
MIFTS: 52

Coloboma malady

Categories: Genetic diseases, Rare diseases, Eye diseases, Fetal diseases

Aliases & Classifications for Coloboma

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Aliases & Descriptions for Coloboma:

Name: Coloboma 10 22 23 47 12 36
Congenital Ocular Coloboma 10 23 24
Coloboma of Macula 10 45 51
Hereditary Macular Coloboma 45 65
Microphthalmia, Isolated, with Coloboma 23
 
Uveoretinal Coloboma 23
Agenesis of Macula 45
Macular Coloboma 45
Ocular Coloboma 23
Coloboma of Eye 10

Characteristics:



Classifications:



External Ids:

Disease Ontology10 DOID:12270
ICD1027 Q13.0
MeSH36 D003103
SNOMED-CT59 92828000, 93390002
NCIt42 C98877
Orphanet51 98945
ICD10 via Orphanet28 Q14.8
UMLS65 C0009363, C1852767

Summaries for Coloboma

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Genetics Home Reference:23 Coloboma is an eye abnormality that occurs before birth. Colobomas are missing pieces of tissue in structures that form the eye. They may appear as notches or gaps in one of several parts of the eye, including the colored part of the eye called the iris; the retina, which is the specialized light-sensitive tissue that lines the back of the eye; the blood vessel layer under the retina called the choroid; or the optic nerves, which carry information from the eyes to the brain.

MalaCards based summary: Coloboma, also known as congenital ocular coloboma, is related to coloboma of optic nerve and anophthalmos with limb anomalies, and has symptoms including macular coloboma An important gene associated with Coloboma is PAX6 (Paired Box 6), and among its related pathways is Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers. Affiliated tissues include eye, retina and brain, and related mouse phenotypes are pigmentation and taste/olfaction.

Disease Ontology:10 An eye disease characterized by missing pieces of tissue in structures that form the eye, such as the iris, retina, choroid or optic disc.

Wikipedia:68 A coloboma (from the Greek koloboma, meaning defect,) is a hole in one of the structures of the eye,... more...

Related Diseases for Coloboma

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Diseases related to Coloboma via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 244)
idRelated DiseaseScoreTop Affiliating Genes
1coloboma of optic nerve33.5GDF3, PAX6, SALL2
2anophthalmos with limb anomalies30.1OTX2, PAX6, VSX2
3retinochoroidal coloboma12.1
4coloboma of iris12.1
5microphthalmia with coloboma 512.0
6coloboma, ocular12.0
7microphthalmia, isolated, with coloboma 712.0
8microphthalmia, isolated, with coloboma 912.0
9microphthalmia with coloboma 6, digenic12.0
10corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia12.0
11microphthalmia with coloboma 312.0
12retinal dystrophy, iris coloboma, and comedogenic acne syndrome12.0
13coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation12.0
14nasopalpebral lipoma coloboma syndrome11.9
15coloboma, ocular, autosomal recessive11.9
16coloboma of eye lens11.9
17microphthalmia, isolated, with coloboma 1011.9
18papillorenal syndrome11.9
19coloboma, cleft lip/palate and mental retardation syndrome11.9
20uveal coloboma-cleft lip and palate-intellectual disability11.9
21coloboma of eyelid11.8
22microtia with nasolacrimal duct imperforation and eye coloboma11.8
23coloboma of macula with type b brachydactyly11.8
24cerebral-cerebellar-coloboma syndrome, x-linked11.8
25coloboma of optic papilla11.8
26microcornea posterior megalolenticonus persistent fetal vasculature coloboma11.8
27coloboma of inferior eyelid11.8
28coloboma of superior eyelid11.8
29microphthalmia/anophthalmia/coloboma spectrum11.7
30amelia cleft lip palate hydrocephalus iris coloboma11.7
31coloboma of alar-nasal cartilages with telecanthus11.7
32coloboma porencephaly hydronephrosis11.7
33esophageal atresia coloboma talipes11.7
34hypercalcinuria macular coloboma11.7
35ptosis coloboma mental retardation11.7
36short limb dwarf edema iris coloboma11.7
37hypospadias-hypertelorism-coloboma and deafness syndrome11.7
38alar cartilages hypoplasia-coloboma-telecanthus syndrome11.7
39nasopalpebral lipoma-coloboma-telecanthus syndrome11.7
40macular coloboma-cleft palate-hallux valgus syndrome11.7
41temtamy syndrome11.5
42charge syndrome11.4
43coach syndrome11.4
44baraitser-winter syndrome11.4
45microphthalmia, syndromic 911.3
46chime syndrome11.3
47baraitser-winter syndrome 111.3
48kahrizi syndrome11.1
49morning glory syndrome11.1
50manitoba oculotrichoanal syndrome11.1

Graphical network of the top 20 diseases related to Coloboma:



Diseases related to coloboma

Symptoms for Coloboma

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HPO human phenotypes related to Coloboma:

id Description Frequency HPO Source Accession
1 macular coloboma HP:0001116

Drugs & Therapeutics for Coloboma

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Drugs for Coloboma (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Ophthalmic SolutionsPhase 11006
2Pharmaceutical SolutionsPhase 17004
3Liver Extracts3572

Interventional clinical trials:

idNameStatusNCT IDPhase
1Spectral Domain Optical Coherence Tomography Imaging of the Eyes of NeonatesCompletedNCT01404247Phase 1
2Evaluation and Treatment of Pediatric, Developmental, and Genetic Eye DiseasesCompletedNCT00076271
3Quality of Life in Children Glaucoma and CataractCompletedNCT02490267
4Genetics of Uveal ColobomaRecruitingNCT01778543
5A More Engaging Visual Field Test to Increase Use and Reliability in PediatricsRecruitingNCT02157025
6Craniofacial Microsomia: Longitudinal Outcomes in Children Pre-Kindergarten (CLOCK)RecruitingNCT02224677
7Whole Exome and Whole Genome Sequencing for Genotyping of Inherited and Congenital Eye ConditionsRecruitingNCT02077894
8Clinical and Molecular Investigations Into CiliopathiesRecruitingNCT00068224
9Family Studies of Uveal ColobomaTerminatedNCT00368004

Search NIH Clinical Center for Coloboma


Cochrane evidence based reviews: coloboma

Genetic Tests for Coloboma

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Genetic tests related to Coloboma:

id Genetic test Affiliating Genes
1 Coloboma22

Anatomical Context for Coloboma

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MalaCards organs/tissues related to Coloboma:

33
Eye, Retina, Brain, Heart, Thyroid, Testes, Endothelial

Animal Models for Coloboma or affiliated genes

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MGI Mouse Phenotypes related to Coloboma:

38 (show all 11)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.8OTX2, PAX2, PAX6, VSX2
2MP:00053949.7OTX2, PAX6, SNAP25
3MP:00053778.7CHD7, OTX2, PAX2, PAX6, SNAP25
4MP:00053807.9CHD7, GDF3, OTX2, PAX2, PAX6, RAX
5MP:00053897.8CHD7, OTX2, PAX2, PAX6, RBP4, SNAP25
6MP:00028737.7GDF3, OTX2, PAX6, RAX, RBP4, SALL2
7MP:00053797.5CHD7, IGBP1, OTX2, PAX2, PAX6, RBP4
8MP:00053847.2ABCB6, CHD7, GDF3, OTX2, PAX2, PAX6
9MP:00036316.9CHD7, IGBP1, OTX2, PAX2, PAX6, RAX
10MP:00053916.8CHD7, CYP1B1, OTX2, PAX2, PAX6, RAX
11MP:00107686.0ABCB6, CHD7, GDF3, OTX2, PAX2, PAX6

Publications for Coloboma

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Articles related to Coloboma:

(show top 50)    (show all 575)
idTitleAuthorsYear
1
A secreted WNT-ligand-binding domain of FZD5 generated by a frameshift mutation causes autosomal dominant coloboma. (26908622)
2016
2
Congenital upper eyelid coloboma: embryologic, nomenclatorial, nosologic, etiologic, pathogenetic, epidemiologic, clinical, and management perspectives. (25419956)
2015
3
Upper Eyelid Coloboma Repair Using Accessory Preauricular Cartilage in a Patient With Goldenhar Syndrome: Technique Revisited. (25514664)
2014
4
Choroidal coloboma in a case of tay-sachs disease. (25295204)
2014
5
Outcomes of phacoemulsification in eyes with congenital choroidal coloboma. (23740521)
2013
6
RE: On a retinochoroidal coloboma. (22883851)
2012
7
Intraoperative OCT of bilateral macular coloboma in a child with Down syndrome. (21766737)
2011
8
Inferior ectopic pupil and typical ocular coloboma in RCS rats. (22330254)
2011
9
Pigmented free-floating vitreous cyst in a patient with high myopia and uveal coloboma simulating choroidal melanoma. (21485975)
2011
10
Lens coloboma and associated ocular malformations. (21692210)
2011
11
Mutational screening of CHX10, GDF6, OTX2, RAX and SOX2 genes in 50 unrelated microphthalmia-anophthalmia-coloboma (MAC) spectrum cases. (20494911)
2010
12
An 8.35 Mb overlapping interstitial deletion of 8q24 in two patients with coloboma, congenital heart defect, limb abnormalities, psychomotor retardation and convulsions. (19464398)
2009
13
Spontaneous scleral rupture adjacent to retinochoroidal coloboma. (25390595)
2008
14
Long-term anatomical and visual outcome of vitreous surgery for retinal detachment with choroidal coloboma. (17189899)
2007
15
Familial blepharophimosis-like syndrome with esotropia, uveal coloboma, and short stature. (17050282)
2006
16
Dynamic atypical optic nerve coloboma associated with transient macular detachment. (16344452)
2005
17
PHACE syndrome: association with persistent fetal vasculature and coloboma-like iris defect. (15492745)
2004
18
Absence of SIX6 mutations in microphthalmia, anophthalmia, and coloboma. (15505031)
2004
19
Renal-coloboma syndrome]. (12410411)
2002
20
Correction of eyelid coloboma in four cats using subdermal collagen and a modified Stades technique. (12445297)
2002
21
Coloboma mouse mutant as an animal model of hyperkinesis and attention deficit hyperactivity disorder. (10654661)
2000
22
PAX2 mutations in renal-coloboma syndrome: mutational hotspot and germline mosaicism. (11093271)
2000
23
Microphthalmos and optic disc coloboma associated with a retrobulbar cyst. (11124677)
2000
24
The prevalence of PAX2 mutations in patients with isolated colobomas or colobomas associated with urogenital anomalies. (9783702)
1998
25
A small deletion of 16q23.1-->16q24.2 [del(16)(q23.1q24.2).ish del(16)(q23.1q24.2)(D16S395+, D16S348-, P5432+)] in a boy with iris coloboma and minor anomalies. (9182777)
1997
26
Previously apparently undescribed syndrome: shallow orbits, ptosis, coloboma, trigonocephaly, gyral malformations, and mental and growth retardation. (7545868)
1995
27
Unexpected familial recurrence of iris coloboma. A delayed mutation mechanism? (8556825)
1995
28
Coloboma of the optic disk associated with retinal vascular abnormalities. (8540556)
1995
29
Ptosis, coloboma, hypertelorism and mental retardation. (8471225)
1993
30
Retinochoroidal coloboma and subretinal neovascularization. (2029115)
1991
31
Coloboma: evaluation with real-time sonography. (2105034)
1990
32
Iris reconstruction by coloboma repair. (2616126)
1989
33
Iris coloboma, ptosis, hypertelorism, and mental retardation. (2918534)
1989
34
Unilateral disc-shaped cataract with coloboma of lens. (3411810)
1988
35
CT images in constitutional abnormalities of the posterior pole of the eye: optic disc coloboma, posterior pole staphyloma. (3091785)
1986
36
Bilateral coloboma of lens in Marfan's syndrome. (3841870)
1985
37
Spontaneous posterior bulbar perforation of congenital scleral coloboma and its surgical treatment: a case report. (2410845)
1985
38
Multiple ocular coloboma (MOC) in snow leopards (Panthera uncia). Clinical report, pedigree analysis, chromosome investigations and serum protein studies. (4086323)
1985
39
Esophageal atresia, coloboma, and clubfoot in two unrelated infants. (6469248)
1984
40
Inheritance of microphthalmia with coloboma in the Australian shepherd dog. (7325429)
1981
41
Selective atrophy in the lateral geniculate nucleus associated with iris coloboma in cat. (860750)
1977
42
Bilateral microcornea, coloboma, short stature and other skeletal anomalies - a new hereditary syndrome. (974245)
1976
43
Letter: Coloboma in Charolais. (1119070)
1975
44
Atypical coloboma in the optic disc of a Beagle. (1141461)
1975
45
Peters' anomaly and total posterior coloboma of retinal pigment epithelium and choroid. (4623873)
1972
46
Coloboma of the iris and choroid and retinal detachment in oculo-auricular dysplasia (Goldenhar syndrome). (5076735)
1972
47
Arthropathia Progressiva Mutilans: Congenital Coloboma-Partially Sighted: Gross Dorsal Scoliosis. (19994003)
1959
48
A CASE OF BILATERAL COLOBOMA OF THE OPTIC DISC. (18170390)
1947
49
Summarized Reports of Eight Cases of Coloboma of Iris and Choroid (Congenital). (19989749)
1934
50
Case of Congenital Morbus Cordis associated with Coloboma of Iris and Choroid. (19982581)
1922

Variations for Coloboma

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Clinvar genetic disease variations for Coloboma:

5
id Gene Variation Type Significance SNP ID Assembly Location
1CYP1B1NM_000104.3(CYP1B1): c.1103G> A (p.Arg368His)single nucleotide variantPathogenicrs79204362GRCh37Chr 2, 38298394: 38298394

Expression for genes affiliated with Coloboma

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Search GEO for disease gene expression data for Coloboma.

Pathways for genes affiliated with Coloboma

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Pathways related to Coloboma according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.7OTX2, PAX2, PAX6

GO Terms for genes affiliated with Coloboma

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Biological processes related to Coloboma according to GeneCards Suite gene sharing:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1blood vessel developmentGO:000156810.0CHD7, PAX6
2retina development in camera-type eyeGO:006004110.0CHD7, PAX6
3cell fate determinationGO:00017099.9PAX2, PAX6
4eye developmentGO:00016549.7GDF3, PAX6, SALL2
5camera-type eye developmentGO:00430109.5CHD7, PAX2, RAX
6locomotory behaviorGO:00076269.4CHD7, SNAP25
7visual perceptionGO:00076017.6CYP1B1, PAX2, PAX6, RAX, RBP4, VSX2

Sources for Coloboma

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet