MCID: CLB001
MIFTS: 55

Coloboma malady

Genetic diseases, Rare diseases, Eye diseases, Fetal diseases categories

Aliases & Classifications for Coloboma

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Sources:
10Disease Ontology, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 47Novoseek, 12DISEASES, 51Orphanet, 24GTR, 65UMLS, 36MeSH, 59SNOMED-CT, 28ICD10 via Orphanet
See all sources

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


Classifications:



External Ids:

Disease Ontology10 DOID:12270
MeSH36 D003103
SNOMED-CT59 92828000, 93390002
Orphanet51 98945
ICD10 via Orphanet28 Q14.8

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, ocular and microphthalmia with coloboma 6, digenic, and has symptoms including iris coloboma, autosomal dominant inheritance and macular coloboma. An important gene associated with Coloboma is PAX6 (Paired Box 6). Affiliated tissues include eye, retina and brain, and related mouse phenotypes are taste/olfaction and hearing/vestibular/ear.

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 386)
idRelated DiseaseScoreTop Affiliating Genes
1coloboma, ocular30.9GDF3, PAX6, SALL2, YAP1
2microphthalmia with coloboma 6, digenic30.8GDF3, GDF6
3charge syndrome30.5CHD7, OTX2, PAX2
4aniridia30.4CYP1B1, OTX2, PAX6
5peters anomaly30.3CYP1B1, MAF, PAX6
6anophthalmos with limb anomalies30.1OTX2, PAX6, VSX2
7microphthalmia, isolated 430.0GDF3, GDF6
8choroiditis10.7
9retinitis10.7
10papillorenal syndrome10.7
11retinochoroidal coloboma10.6
12coloboma of optic nerve10.6
13retinal detachment10.6
14microphthalmia10.6
15cataract10.5
16chorioretinitis10.5
17coloboma of iris10.5
18temtamy syndrome10.4
19microphthalmia, syndromic 110.4
20nasopalpebral lipoma coloboma syndrome10.4
21microtia with nasolacrimal duct imperforation and eye coloboma10.4
22cat eye syndrome10.4
23corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia10.3
24coach syndrome10.3
25microphthalmia with coloboma 510.3
26coloboma, ocular, autosomal recessive10.3
27microcornea posterior megalolenticonus persistent fetal vasculature coloboma10.3
28microphthalmia, isolated, with coloboma 710.3
29microphthalmia with coloboma 310.3
30chime syndrome10.3
31microphthalmia, isolated, with coloboma 910.3
32retinal dystrophy, iris coloboma, and comedogenic acne syndrome10.3
33microphthalmia, isolated, with coloboma 1010.3
34coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation10.3
35ptosis10.3
36scleritis10.3PAX2, PAX6
37treacher collins syndrome 110.3
38abruzzo-erickson syndrome10.3
39holoprosencephaly10.3
40microcephaly10.3
41coloboma, cleft lip/palate and mental retardation syndrome10.3
42curry jones syndrome10.3
43gynecomastia10.2PAX2, PAX6
44branchiooculofacial syndrome10.2
45baraitser-winter syndrome 110.2
46lipoma10.2
47baraitser-winter syndrome10.2
48myopia10.2
49coloboma of macula with type b brachydactyly10.2
50joubert syndrome with oculorenal anomalies10.2

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 iris coloboma hallmark (90%) HP:0000612
2 autosomal dominant inheritance HP:0000006
3 macular coloboma HP:0001116

Drugs & Therapeutics for Coloboma

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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
3Genetics of Uveal ColobomaRecruitingNCT01778543
4A More Engaging Visual Field Test to Increase Use and Reliability in PediatricsRecruitingNCT02157025
5Craniofacial Microsomia: Longitudinal Outcomes in Children Pre-Kindergarten (CLOCK)RecruitingNCT02224677
6Whole Exome and Whole Genome Sequencing for Genotyping of Inherited and Congenital Eye ConditionsRecruitingNCT02077894
7Quality of Life in Children Glaucoma and CataractRecruitingNCT02490267
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
2 Congenital Ocular Coloboma24

Anatomical Context for Coloboma

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MalaCards organs/tissues related to Coloboma:

33
Eye, Retina, Brain, Heart, Kidney, Pineal, Pituitary

Animal Models for Coloboma or affiliated genes

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MGI Mouse Phenotypes related to Coloboma:

38 (show all 15)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000539410.3OTX2, PAX6, SHH, SNAP25
2MP:00053779.4CHD7, GDF6, OTX2, PAX2, PAX6, SHH
3MP:00053829.1CHD7, GDF6, MAF, OTX2, PAX6, RAX
4MP:00053859.1CHD7, OTX2, PAX2, PAX6, RBP4, SHH
5MP:00028739.1GDF3, OTX2, PAX6, RAX, RBP4, SALL2
6MP:00053848.7ABCB6, CHD7, GDF3, OTX2, PAX2, PAX6
7MP:00053808.7CHD7, GDF3, OTX2, PAX2, PAX6, RAX
8MP:00053798.6CHD7, OTX2, PAX2, PAX6, RBP4, SHH
9MP:00053898.5CHD7, OTX2, PAX2, PAX6, RBP4, SHH
10MP:00053788.4CHD7, GDF3, GDF6, MAF, OTX2, PAX6
11MP:00053868.2CHD7, IGBP1, MAF, OTX2, PAX6, RAX
12MP:00053767.9ABCB6, CHD7, CYP1B1, GDF3, MAF, OTX2
13MP:00053917.8CHD7, CYP1B1, GDF6, MAF, OTX2, PAX2
14MP:00107687.5ABCB6, CHD7, GDF3, GDF6, MAF, OTX2
15MP:00036317.3CHD7, GDF6, IGBP1, MAF, OTX2, PAX2

Publications for Coloboma

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Articles related to Coloboma:

(show top 50)    (show all 549)
idTitleAuthorsYear
1
Congenital upper eyelid coloboma: embryologic, nomenclatorial, nosologic, etiologic, pathogenetic, epidemiologic, clinical, and management perspectives. (25419956)
2015
2
Upper Eyelid Coloboma Repair Using Accessory Preauricular Cartilage in a Patient With Goldenhar Syndrome: Technique Revisited. (25514664)
2014
3
Choroidal coloboma in a case of tay-sachs disease. (25295204)
2014
4
Outcomes of phacoemulsification in eyes with congenital choroidal coloboma. (23740521)
2013
5
RE: On a retinochoroidal coloboma. (22883851)
2012
6
Intraoperative OCT of bilateral macular coloboma in a child with Down syndrome. (21766737)
2011
7
Inferior ectopic pupil and typical ocular coloboma in RCS rats. (22330254)
2011
8
Pigmented free-floating vitreous cyst in a patient with high myopia and uveal coloboma simulating choroidal melanoma. (21485975)
2011
9
Lens coloboma and associated ocular malformations. (21692210)
2011
10
Mutational screening of CHX10, GDF6, OTX2, RAX and SOX2 genes in 50 unrelated microphthalmia-anophthalmia-coloboma (MAC) spectrum cases. (20494911)
2010
11
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
12
Spontaneous scleral rupture adjacent to retinochoroidal coloboma. (25390595)
2008
13
Long-term anatomical and visual outcome of vitreous surgery for retinal detachment with choroidal coloboma. (17189899)
2007
14
Familial blepharophimosis-like syndrome with esotropia, uveal coloboma, and short stature. (17050282)
2006
15
Dynamic atypical optic nerve coloboma associated with transient macular detachment. (16344452)
2005
16
Autosomal dominant microtia and ocular coloboma: new syndrome or an extension of the oculo-auriculo-vertebral spectrum? (15800906)
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
Letter: Coloboma in Charolais. (1119070)
1975
43
Atypical coloboma in the optic disc of a Beagle. (1141461)
1975
44
Correspondence: Coloboma in Charolais. (804205)
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
1YAP1NM_001130145.2(YAP1): c.370C> T (p.Arg124Ter)single nucleotide variantPathogenicrs587777249GRCh38Chr 11, 102114192: 102114192
2GDF3NM_020634.1(GDF3): c.914T> C (p.Leu305Pro)single nucleotide variantPathogenicrs387906945GRCh37Chr 12, 7842655: 7842655
3PAX6NM_000280.4(PAX6): c.773T> C (p.Phe258Ser)single nucleotide variantPathogenicrs121907925GRCh37Chr 11, 31815343: 31815343
4CYP1B1NM_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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GO Terms for genes affiliated with Coloboma

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

(show all 28)
idNameGO IDScoreTop Affiliating Genes
1primitive streak formationGO:009000910.8GDF3, OTX2
2somite rostral/caudal axis specificationGO:003252510.8GDF3, OTX2
3regulation of metanephric nephron tubule epithelial cell differentiationGO:007230710.8PAX2, YAP1
4formation of anatomical boundaryGO:004885910.7GDF3, SHH
5positive regulation of neuroblast proliferationGO:000205210.7PAX6, SHH
6cell fate specificationGO:000170810.7OTX2, SHH
7telencephalon regionalizationGO:002197810.6PAX6, SHH
8anatomical structure developmentGO:004885610.6OTX2, SHH
9cell fate determinationGO:000170910.6PAX2, PAX6
10neuron fate commitmentGO:004866310.5OTX2, PAX6, SHH
11dorsal/ventral pattern formationGO:000995310.5OTX2, PAX6, SHH
12regulation of neurogenesisGO:005076710.5CHD7, PAX6, YAP1
13anterior/posterior pattern specificationGO:000995210.4OTX2, PAX6, SHH
14cell fate commitmentGO:004516510.3OTX2, PAX6, SHH, VSX2
15notochord developmentGO:003090310.3GDF3, YAP1
16retinol metabolic processGO:004257210.3CYP1B1, RBP4
17limb developmentGO:006017310.2CHD7, RAX, SHH
18eye developmentGO:000165410.2GDF3, PAX6, RBP4, SALL2
19forebrain developmentGO:003090010.1OTX2, PAX6, SHH
20inner ear morphogenesisGO:004247210.0CHD7, OTX2, PAX2
21cell developmentGO:00484689.8GDF3, GDF6, MAF, SHH
22central nervous system developmentGO:00074179.8CHD7, OTX2, PAX6, SHH
23positive regulation of transcription, DNA-templatedGO:00458939.8GDF6, OTX2, PAX2, PAX6, SHH
24camera-type eye developmentGO:00430109.6CHD7, PAX2, PAX6, RAX, SHH, VSX2
25visual perceptionGO:00076019.3CYP1B1, PAX2, PAX6, RAX, RBP4, VSX2
26transcription from RNA polymerase II promoterGO:00063669.0MAF, OTX2, PAX2, PAX6, RAX
27regulation of transcription, DNA-templatedGO:00063558.6CHD7, MAF, OTX2, PAX2, PAX6, RAX
28positive regulation of transcription from RNA polymerase II promoterGO:00459448.5IGBP1, MAF, OTX2, PAX2, PAX6, RAX

Molecular functions related to Coloboma according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1transcription regulatory region DNA bindingGO:00442129.9PAX2, PAX6, SALL2, YAP1
2RNA polymerase II core promoter proximal region sequence-specific DNA bindingGO:00009789.7CHD7, OTX2, PAX6, RAX
3sequence-specific DNA bindingGO:00435659.1MAF, OTX2, PAX6, RAX, SALL2, 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