MCID: CLB001
MIFTS: 68

Coloboma malady

Genetic diseases, Eye diseases, Fetal diseases, Rare diseases categories
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Summaries for Coloboma

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Genetics Home Reference:21 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 microphthalmia and anophthalmia plus syndrome, and has symptoms including An important gene associated with Coloboma is PAX6 (paired box 6), and among its related pathways are the visual cycle I (vertebrates) and Heart Development. The compounds mitoxantrone and quinone have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and brain, and related mouse phenotypes are hearing/vestibular/ear and craniofacial.

Wikipedia:65 A coloboma (from the Greek koloboma, meaning defect,) is a hole in one of the structures of the eye,... more...

Descriptions from OMIM:46 120200,120433

Aliases & Classifications for Coloboma

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Sources:
8Disease Ontology, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 34MeSH, 57SNOMED-CT, 62UMLS, 26ICD10 via Orphanet
See all sources

Coloboma, Aliases & Descriptions:

Name: Coloboma 8 20 21 10 44
Congenital Ocular Coloboma 8 22 21
Microphthalmia, Isolated, with Coloboma 21
Coloboma of Choroid and Retina 48
Uveoretinal Coloboma 21
 
Coloboma of Iris 48
Coloboma, Ocular 46
Coloboma of Eye 8
Ocular Coloboma 21


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Fetal diseases, Rare diseases
Anatomical: Eye diseases


External Ids:

Disease Ontology8 DOID:12270
MeSH34 D003103
SNOMED-CT57 92828000, 93390002
OMIM46 120200
ICD10 via Orphanet26 Q14.8, Q13.0

Related Diseases for Coloboma

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

(show top 50)    (show all 321)
idRelated DiseaseScoreTop Affiliating Genes
1microphthalmia30.5GDF6, PAX2, PAX6, STRA6, VSX2, RAX
2anophthalmia plus syndrome30.5PAX6, VSX2
3aniridia30.4PAX6, PITX2
4anophthalmia/microphthalmia30.0PITX2, PAX2, VSX2, RAX
5peters plus syndrome29.7PAX6, CYP1B1, PITX2
6renal coloboma syndrome10.7
7choroiditis10.7
8retinitis10.7
9retinochoroidal coloboma10.5
10retinal detachment10.5
11coloboma of optic nerve10.4
12renal dysplasia10.4PAX2
13cataract10.4
14mental retardation10.4
15chorioretinitis10.4
16coloboma of iris10.4
17nasopalpebral lipoma coloboma syndrome10.3
18charge syndrome10.3
19klippel-feil syndrome10.3GDF3, GDF6
20cat eye syndrome10.3
21microtia eye coloboma and imperforation of the nasolacrimal duct10.3
22temtamy syndrome10.3
23focal segmental glomerulosclerosis10.3RBP4, PAX2
24glaucoma 3a, primary open angle, congenital, juvenile, or adult onset10.2CYP1B1, PAX6
25glucose intolerance10.2RBP4, PAX6
26microcephaly10.2
27coach syndrome10.2
28coloboma of macula10.2
29coloboma, cleft lip/palate and mental retardation syndrome10.2
30microcornea posterior megalolenticonus persistent fetal vasculature coloboma10.2
31lipoma10.2
32myopia10.2
33baraitser-winter syndrome10.2
34coloboma of macula with type b brachydactyly10.2
35agenesis of the corpus callosum with mental retardation, ocular coloboma, and micrognathia10.2
36coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation10.2
37coloboma, ocular, autosomal recessive10.2
38nasopalpebral lipoma - coloboma - telecanthus10.2
39otodental syndrome10.2
40zunich neuroectodermal syndrome10.2
41coloboma of eyelid10.2
42nephroblastoma10.1PAX6, PAX2
43down syndrome10.1
44joubert syndrome10.1
45hypospadias10.1
46retinoblastoma10.1
47amelia cleft lip palate hydrocephalus iris coloboma10.1
48coloboma of eye lens10.1
49frontonasal dysplasia10.1
50joubert syndrome with oculorenal anomalies10.1

Graphical network of the top 20 diseases related to Coloboma:



Diseases related to coloboma

Symptoms for Coloboma

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Symptoms by clinical synopsis from OMIM:

120200

Clinical features from OMIM:

120200,120433

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 irido-fundal coloboma HP:0007748

Drugs & Therapeutics for Coloboma

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Drug clinical trials:

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Search NIH Clinical Center for Coloboma

Genetic Tests for Coloboma

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Genetic tests related to Coloboma:

id Genetic test Affiliating Genes
1 Coloboma20
2 Congenital Ocular Coloboma22

Anatomical Context for Coloboma

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MalaCards organs/tissues related to Coloboma:

32
Eye, Retina, Brain, Heart, Kidney, Spinal cord, Smooth muscle, Skin, Testes, Pineal, Pituitary

Animal Models for Coloboma or affiliated genes

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Publications for Coloboma

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Articles related to Coloboma:

(show top 50)    (show all 526)
idTitleAuthorsYear
1
Choroidal coloboma in a case of tay-sachs disease. (25295204)
2014
2
Outcomes of phacoemulsification in eyes with congenital choroidal coloboma. (23740521)
2013
3
RE: On a retinochoroidal coloboma. (22883851)
2012
4
Intraoperative OCT of bilateral macular coloboma in a child with Down syndrome. (21766737)
2011
5
Inferior ectopic pupil and typical ocular coloboma in RCS rats. (22330254)
2011
6
Pigmented free-floating vitreous cyst in a patient with high myopia and uveal coloboma simulating choroidal melanoma. (21485975)
2011
7
Lens coloboma and associated ocular malformations. (21692210)
2011
8
Choroidal neovascularization associated with coloboma of the choroid: a series of three cases. (21350286)
2011
9
Mutational screening of CHX10, GDF6, OTX2, RAX and SOX2 genes in 50 unrelated microphthalmia-anophthalmia-coloboma (MAC) spectrum cases. (20494911)
2010
10
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
11
Spontaneous scleral rupture adjacent to retinochoroidal coloboma. (25390595)
2008
12
Long-term anatomical and visual outcome of vitreous surgery for retinal detachment with choroidal coloboma. (17189899)
2007
13
Familial blepharophimosis-like syndrome with esotropia, uveal coloboma, and short stature. (17050282)
2006
14
Dynamic atypical optic nerve coloboma associated with transient macular detachment. (16344452)
2005
15
Autosomal dominant microtia and ocular coloboma: new syndrome or an extension of the oculo-auriculo-vertebral spectrum? (15800906)
2005
16
PHACE syndrome: association with persistent fetal vasculature and coloboma-like iris defect. (15492745)
2004
17
Absence of SIX6 mutations in microphthalmia, anophthalmia, and coloboma. (15505031)
2004
18
Renal-coloboma syndrome]. (12410411)
2002
19
Iris coloboma and a microdeletion of chromosome 22: del(22)(q11.22). (12386101)
2002
20
Coloboma mouse mutant as an animal model of hyperkinesis and attention deficit hyperactivity disorder. (10654661)
2000
21
PAX2 mutations in renal-coloboma syndrome: mutational hotspot and germline mosaicism. (11093271)
2000
22
Microphthalmos and optic disc coloboma associated with a retrobulbar cyst. (11124677)
2000
23
The prevalence of PAX2 mutations in patients with isolated colobomas or colobomas associated with urogenital anomalies. (9783702)
1998
24
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
25
Previously apparently undescribed syndrome: shallow orbits, ptosis, coloboma, trigonocephaly, gyral malformations, and mental and growth retardation. (7545868)
1995
26
Unexpected familial recurrence of iris coloboma. A delayed mutation mechanism? (8556825)
1995
27
Coloboma of the optic disk associated with retinal vascular abnormalities. (8540556)
1995
28
Ptosis, coloboma, hypertelorism and mental retardation. (8471225)
1993
29
Retinochoroidal coloboma and subretinal neovascularization. (2029115)
1991
30
Coloboma: evaluation with real-time sonography. (2105034)
1990
31
Iris reconstruction by coloboma repair. (2616126)
1989
32
Iris coloboma, ptosis, hypertelorism, and mental retardation. (2918534)
1989
33
Unilateral disc-shaped cataract with coloboma of lens. (3411810)
1988
34
CT images in constitutional abnormalities of the posterior pole of the eye: optic disc coloboma, posterior pole staphyloma. (3091785)
1986
35
Bilateral coloboma of lens in Marfan's syndrome. (3841870)
1985
36
Spontaneous posterior bulbar perforation of congenital scleral coloboma and its surgical treatment: a case report. (2410845)
1985
37
Multiple ocular coloboma (MOC) in snow leopards (Panthera uncia). Clinical report, pedigree analysis, chromosome investigations and serum protein studies. (4086323)
1985
38
Esophageal atresia, coloboma, and clubfoot in two unrelated infants. (6469248)
1984
39
Inheritance of microphthalmia with coloboma in the Australian shepherd dog. (7325429)
1981
40
Selective atrophy in the lateral geniculate nucleus associated with iris coloboma in cat. (860750)
1977
41
Bilateral microcornea, coloboma, short stature and other skeletal anomalies - a new hereditary syndrome. (974245)
1976
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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UniProtKB/Swiss-Prot genetic disease variations for Coloboma:

64
id Symbol AA change Variation ID SNP ID
1PAX6p.Phe258SerVAR_017542

Clinvar genetic disease variations for Coloboma:

6
id Gene Name Type Significance SNP ID Assembly Location
1YAP1NM_001130145.2(YAP1): c.370C> T (p.Arg124Ter)single nucleotide variantPathogenicGRCh38Chr 11, 102114192: 102114192
2YAP1NM_001130145.2(YAP1): c.1066G> T (p.Glu356Ter)single nucleotide variantPathogenicGRCh38Chr 11, 102223655: 102223655
3GDF3NM_020634.1(GDF3): c.914T> C (p.Leu305Pro)single nucleotide variantPathogenicrs387906945GRCh37Chr 12, 7842655: 7842655
4PAX6NM_000280.4(PAX6): c.773T> C (p.Phe258Ser)single nucleotide variantPathogenicrs121907925GRCh37Chr 11, 31815343: 31815343
5CYP1B1NM_000104.3(CYP1B1): c.1103G> A (p.Arg368His)single nucleotide variantPathogenicrs79204362GRCh37Chr 2, 38298394: 38298394

Expression for genes affiliated with Coloboma

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Expression patterns in normal tissues for genes affiliated with Coloboma

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Pathways for genes affiliated with Coloboma

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Pathways related to Coloboma according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.8RBP4, STRA6
29.2SHH, PITX2

Compounds for genes affiliated with Coloboma

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Sources:
44Novoseek, 50PharmGKB, 11DrugBank, 24HMDB
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Compounds related to Coloboma according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1mitoxantrone44 50 1111.6CYP1B1, ABCB6
2quinone44 2410.6DHODH, CYP1B1
3serine447.6RBP4, PITX2, CYP1B1, PAX2, PAX6, YAP1

GO Terms for genes affiliated with Coloboma

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Cellular components related to Coloboma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein complexGO:0432349.5RBP4, STRA6, PAX2

Biological processes related to Coloboma according to GeneCards/GeneDecks:

(show all 26)
idNameGO IDScoreTop Affiliating Genes
1notochord developmentGO:03090310.3YAP1, GDF3
2cell fate determinationGO:00170910.3PAX6, PAX2
3formation of anatomical boundaryGO:04885910.2SHH, GDF3
4paramesonephric duct developmentGO:06120510.2STRA6, PAX2
5hindbrain developmentGO:03090210.1SHH, PAX6
6positive regulation of neuroblast proliferationGO:00205210.1PAX6, SHH
7neuron fate commitmentGO:04866310.1PAX6, SHH
8eye developmentGO:00165410.0GDF3, PAX6, RBP4
9growthGO:04000710.0GDF6, GDF3
10pancreas developmentGO:03101610.0PAX2, SHH
11embryonic skeletal system developmentGO:0487069.9RBP4, SHH
12smoothened signaling pathwayGO:0072249.9PAX6, SHH
13blood vessel developmentGO:0015689.8STRA6, PAX6
14iris morphogenesisGO:0610729.8PITX2, PAX6
15lung developmentGO:0303249.7RBP4, STRA6, SHH
16heart developmentGO:0075079.6RBP4, STRA6, SHH
17positive regulation of transcription, DNA-templatedGO:0458939.5PAX6, PAX2, SHH, GDF6
18branching involved in ureteric bud morphogenesisGO:0016589.5PAX2, SHH
19embryonic digestive tract morphogenesisGO:0485579.5PITX2, SHH
20vasculogenesisGO:0015709.4YAP1, SHH, PITX2
21embryonic hindlimb morphogenesisGO:0351169.4SHH, PITX2
22visual perceptionGO:0076019.3RAX, VSX2, PAX6, PAX2, CYP1B1
23patterning of blood vesselsGO:0015699.2PITX2, SHH
24camera-type eye developmentGO:0430109.1RAX, PAX2, SHH, PITX2
25negative regulation of transcription from RNA polymerase II promoterGO:0001228.8PITX2, IGBP1, SHH, PAX2
26positive regulation of transcription from RNA polymerase II promoterGO:0459448.1PITX2, IGBP1, SHH, PAX2, PAX6, YAP1

Products for genes affiliated with Coloboma

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Sources for Coloboma

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet