MCID: CLB001
MIFTS: 64

Coloboma malady

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

Summaries for Coloboma

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22Genetics Home Reference, 66Wikipedia, 48OMIM, 34MalaCards
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Genetics Home Reference:22 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: Coloboma, also known as congenital ocular coloboma, is related to microphthalmia and microcephaly. An important gene associated with Coloboma is PAX6 (paired box 6), and among its related pathways are Transcription factors in neurogenesis and the visual cycle I (vertebrates). Affiliated tissues include eye, retina and heart, and related mouse phenotypes are pigmentation and hearing/vestibular/ear.

Wikipedia:66 A coloboma (from the Greek koloboma, meaning defect,) is a hole in one of the structures of the eye,... more...

Description from OMIM:48 120200,120433

Aliases & Classifications for Coloboma

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9Disease Ontology, 21GeneTests, 23GTR, 22Genetics Home Reference, 48OMIM, 11DISEASES, 46Novoseek, 50Orphanet, 36MeSH, 59SNOMED-CT, 63UMLS, 60SNOMED-CT via Orphanet, 27ICD10 via Orphanet
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Classifications:

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


Aliases & Descriptions:

coloboma 9 21 22 11 46
congenital ocular coloboma 9 23 22
microphthalmia, isolated, with coloboma 22
coloboma of choroid and retina 50
uveoretinal coloboma 22
coloboma of iris 50
coloboma, ocular 48
coloboma of eye 9
ocular coloboma 22


External Ids:

Disease Ontology9 DOID:12270
MeSH36 D003103
OMIM48 120200
SNOMED-CT59 93390002, 92828000
SNOMED-CT via Orphanet60 39302008, 9446007
ICD10 via Orphanet27 Q14.8, Q13.0

Related Diseases for Coloboma

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18GeneCards, 19GeneDecks
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Diseases related to Coloboma via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 319)
idRelated DiseaseScoreTop Affiliating Genes
1microphthalmia30.7GDF6, PAX2, PAX6, STRA6, RAX
2microcephaly30.3PAX6, SHH
3anophthalmia/microphthalmia30.2RAX, PAX2
4renal coloboma syndrome10.7
5choroiditis10.7
6retinitis10.6
7retinochoroidal coloboma10.5
8retinal detachment10.5
9mental retardation10.4
10coloboma of optic nerve10.4
11cataract10.4
12coloboma of iris10.4
13chorioretinitis10.4
14nasopalpebral lipoma coloboma syndrome10.3
15cat eye syndrome10.3
16microtia eye coloboma and imperforation of the nasolacrimal duct10.3
17charge syndrome10.2
18coach syndrome10.2
19microcornea posterior megalolenticonus persistent fetal vasculature coloboma10.2
20temtamy syndrome10.2
21lipoma10.2
22myopia10.2
23baraitser-winter syndrome10.2
24coloboma of macula10.2
25coloboma of macula with type b brachydactyly10.2
26coloboma, cleft lip/palate and mental retardation syndrome10.2
27agenesis of the corpus callosum with mental retardation, ocular coloboma, and micrognathia10.2
28coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation10.2
29nasopalpebral lipoma - coloboma - telecanthus10.2
30otodental syndrome10.2
31aniridia10.1
32zunich neuroectodermal syndrome10.1
33matthew-wood syndrome10.1
34hypospadias10.1
35cleft palate10.1
36joubert syndrome10.1
37retinoblastoma10.1
38amelia cleft lip palate hydrocephalus iris coloboma10.1
39coloboma of eye lens10.1
40frontonasal dysplasia10.1
41ocular colobomas, ichthyosis, brain malformations and endocrine abnormalities10.1
42oculofaciocardiodental syndrome10.1
43baraitser-winter syndrome 110.1
44hypospadias - hypertelorism - coloboma and deafness10.1
45renal dysplasia10.1PAX2
46nephroblastoma10.1PAX6, PAX2
47focal segmental glomerulosclerosis10.0RBP4, PAX2
48klippel-feil syndrome10.0GDF3, GDF6
49developmental disabilities10.0PAX6, PAX2
50glucose intolerance10.0PAX6, RBP4

Graphical network of the top 20 diseases related to Coloboma:



Diseases related to coloboma

Symptoms for Coloboma

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48OMIM
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Symptoms by clinical synopsis from OMIM:

120200

Clinical features from OMIM:

120200,120433

Drugs & Therapeutics for Coloboma

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Coloboma

Drug clinical trials:

Search ClinicalTrials for Coloboma

Search NIH Clinical Center for Coloboma

Search CenterWatch for Coloboma

Genetic Tests for Coloboma

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21GeneTests, 23GTR
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Genetic tests related to Coloboma:

id Genetic test Affiliating Genes
1 Coloboma21
2 Congenital Ocular Coloboma23

Anatomical Context for Coloboma

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34MalaCards
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MalaCards organs/tissues related to Coloboma:

34
Eye, Retina, Heart, Brain, Kidney, Skin, Pineal, Smooth muscle, Testes, Tongue, Spinal cord, Pituitary

Animal Models for Coloboma or affiliated genes

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38MGI
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Publications for Coloboma

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53PubMed
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Articles related to Coloboma:

(show top 50)    (show all 511)
idTitleAuthorsYear
1
Outcomes of phacoemulsification in eyes with congenital choroidal coloboma. (23740521)
2013
2
RE: On a retinochoroidal coloboma. (22883851)
2012
3
Intraoperative OCT of bilateral macular coloboma in a child with Down syndrome. (21766737)
2011
4
Inferior ectopic pupil and typical ocular coloboma in RCS rats. (22330254)
2011
5
Pigmented free-floating vitreous cyst in a patient with high myopia and uveal coloboma simulating choroidal melanoma. (21485975)
2011
6
Lens coloboma and associated ocular malformations. (21692210)
2011
7
Choroidal neovascularization associated with coloboma of the choroid: a series of three cases. (21350286)
2011
8
Mutational screening of CHX10, GDF6, OTX2, RAX and SOX2 genes in 50 unrelated microphthalmia-anophthalmia-coloboma (MAC) spectrum cases. (20494911)
2010
9
Visual electrophysiological findings in CHARGE syndrome with bilateral colobomas: a case report. (20213536)
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
Long-term anatomical and visual outcome of vitreous surgery for retinal detachment with choroidal coloboma. (17189899)
2007
12
Familial blepharophimosis-like syndrome with esotropia, uveal coloboma, and short stature. (17050282)
2006
13
Dynamic atypical optic nerve coloboma associated with transient macular detachment. (16344452)
2005
14
Autosomal dominant microtia and ocular coloboma: new syndrome or an extension of the oculo-auriculo-vertebral spectrum? (15800906)
2005
15
PHACE syndrome: association with persistent fetal vasculature and coloboma-like iris defect. (15492745)
2004
16
Absence of SIX6 mutations in microphthalmia, anophthalmia, and coloboma. (15505031)
2004
17
Renal-coloboma syndrome]. (12410411)
2002
18
Correction of eyelid coloboma in four cats using subdermal collagen and a modified Stades technique. (12445297)
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
The prevalence of PAX2 mutations in patients with isolated colobomas or colobomas associated with urogenital anomalies. (9783702)
1998
23
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
24
Hydrolethalus: a midline malformation syndrome with optic nerve coloboma and hypoplasia. (8740232)
1996
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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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Coloboma:

65
id Symbol AA change Variation ID SNP ID
1PAX6p.Phe258SerVAR_017542

Clinvar genetic disease variations for Coloboma:

1
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 variantPathogenic, Uncertain significancers79204362GRCh37Chr 2, 38298394: 38298394
6CYP1B1NM_000104.3(CYP1B1): c.241T> A (p.Tyr81Asn)single nucleotide variantBenign, Pathogenic, Uncertain significancers9282671GRCh37Chr 2, 38302291: 38302291

Expression for genes affiliated with Coloboma

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Coloboma

Search GEO for disease gene expression data for Coloboma.

Pathways for genes affiliated with Coloboma

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51PathCards, 13EMD Millipore, 39NCBI BioSystems Database, 56Reactome
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Pathways related to Coloboma according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.9PAX6, PAX2
2
Show member pathways
9.4RBP4, STRA6

Compounds for genes affiliated with Coloboma

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GO Terms for genes affiliated with Coloboma

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17Gene Ontology
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Cellular components related to Coloboma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein complexGO:0432348.8RBP4, STRA6, PAX2
2extracellular spaceGO:0056158.3RBP4, SHH, GDF6, GDF3

Biological processes related to Coloboma according to GeneCards/GeneDecks:

(show all 27)
idNameGO IDScoreTop Affiliating Genes
1cell fate determinationGO:00170910.2PAX2, PAX6
2keratinocyte differentiationGO:03021610.1YAP1, PAX6
3notochord developmentGO:03090310.0YAP1, GDF3
4paramesonephric duct developmentGO:0612059.9PAX2, STRA6
5visual perceptionGO:0076019.9RAX, PAX6, PAX2
6growthGO:0400079.8GDF6, GDF3
7blood vessel developmentGO:0015689.8STRA6, PAX6
8hindbrain developmentGO:0309029.7PAX6, SHH
9neuron fate commitmentGO:0486639.7SHH, PAX6
10positive regulation of neuroblast proliferationGO:0020529.7SHH, PAX6
11negative regulation of cysteine-type endopeptidase activity involved in apoptotic processGO:0431549.6PAX2, IGBP1
12pancreas developmentGO:0310169.6PAX2, SHH
13eye developmentGO:0016549.6RBP4, PAX6, GDF3
14smoothened signaling pathwayGO:0072249.6SHH, PAX6
15branching involved in ureteric bud morphogenesisGO:0016589.5PAX2, SHH
16retinoid metabolic processGO:0015239.5RBP4, STRA6
17formation of anatomical boundaryGO:0488599.5GDF3, SHH
18glucose homeostasisGO:0425939.5RBP4, PAX6
19embryonic skeletal system developmentGO:0487069.5SHH, RBP4
20vasculogenesisGO:0015709.4YAP1, SHH
21camera-type eye developmentGO:0430109.4RAX, PAX2, SHH
22phototransduction, visible lightGO:0076039.4RBP4, STRA6
23pattern specification processGO:0073899.4SHH, RAX
24positive regulation of transcription, DNA-templatedGO:0458939.1PAX6, PAX2, SHH, GDF6
25lung developmentGO:0303248.9SHH, STRA6, RBP4
26heart developmentGO:0075078.9RBP4, STRA6, SHH
27positive regulation of transcription from RNA polymerase II promoterGO:0459448.7YAP1, PAX6, PAX2, SHH, IGBP1

Products for genes affiliated with Coloboma

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  • Antibodies
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Sources for Coloboma

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet