MCID: CLB001
MIFTS: 63

Coloboma malady

Eye diseases, Fetal diseases categories

Summaries for Coloboma

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21Genetics Home Reference, 63Wikipedia, 46OMIM, 32MalaCards
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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: Coloboma, also known as congenital ocular coloboma, is related to renal coloboma syndrome and microphthalmia. An important gene associated with Coloboma is PAX6 (paired box 6). Affiliated tissues include eye, retina and brain, and related mouse phenotypes are pigmentation and vision/eye.

Wikipedia:63 A coloboma (from the Greek koloboma, meaning defect,) is a hole in one of the structures of the eye,... more...

Description from OMIM:46 120200

Aliases & Classifications for Coloboma

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8Disease Ontology, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 34MeSH, 56SNOMED-CT, 60UMLS, 57SNOMED-CT via Orphanet, 26ICD10 via Orphanet
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Classifications:

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


Aliases & Descriptions:

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


External Ids:

Disease Ontology8 DOID:12270
MeSH34 D003103
OMIM46 120200
SNOMED-CT56 92828000, 93390002
SNOMED-CT via Orphanet57 39302008, 9446007
ICD10 via Orphanet26 Q14.8, Q13.0

Related Diseases for Coloboma

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17GeneCards, 18GeneDecks
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Diseases related to Coloboma via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 304)
idRelated DiseaseScoreTop Affiliating Genes
1renal coloboma syndrome31.0PAX2
2microphthalmia30.6GDF6, VSX2, RAX, PAX6, PAX2
3cataract30.5PAX6
4aniridia30.1PITX2, KIR2DS4, PAX6
5anophthalmia/microphthalmia30.0PAX2, RAX, VSX2, PITX2
6anophthalmia plus syndrome30.0PAX6, VSX2
7microphthalmia with coloboma 629.8GDF3
8microphthalmia with coloboma 329.8VSX2
9peters plus syndrome29.6PITX2, PAX6
10choroiditis10.6
11retinitis10.6
12coloboma of optic nerve10.6
13retinal detachment10.5
14chorioretinitis10.3
15retinochoroidal coloboma10.3
16charge syndrome10.3
17microtia eye coloboma and imperforation of the nasolacrimal duct10.2
18microcephaly10.2
19coach syndrome10.2
20microcornea posterior megalolenticonus persistent fetal vasculature coloboma10.2
21cleft palate10.1
22lipoma10.1
23myopia10.1
24coloboma of macula10.1
25coloboma of macula with type b brachydactyly10.1
26cat eye syndrome10.1
27coloboma, cleft lip/palate and mental retardation syndrome10.1
28temtamy syndrome10.1
29nasopalpebral lipoma coloboma syndrome10.1
30agenesis of the corpus callosum with mental retardation, ocular coloboma, and micrognathia10.1
31uveal coloboma - cleft lip and palate - intellectual deficit10.1
32nasopalpebral lipoma - coloboma - telecanthus10.1
33matthew-wood syndrome10.1
34hypospadias10.1
35down syndrome10.1
36joubert syndrome10.1
37retinoblastoma10.1
38amelia cleft lip palate hydrocephalus iris coloboma10.1
39oculofaciocardiodental syndrome10.1
40baraitser-winter syndrome10.1
41zunich neuroectodermal syndrome10.1
42coloboma of eye lens10.1
43coloboma of iris10.1
44baraitser-winter syndrome 110.1
45hypospadias - hypertelorism - coloboma and deafness10.1
46otodental syndrome10.1
47attention deficit hyperactivity disorder10.0
48noonan syndrome10.0
49wolf-hirschhorn syndrome10.0
50cleft lip10.0

Graphical network of the top 20 diseases related to Coloboma:



Diseases related to coloboma

Clinical Features for Coloboma

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Sources:
46OMIM
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Clinical features from OMIM:

120200

Clinical synopsis from OMIM:

120200

Drugs & Therapeutics for Coloboma

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Coloboma

Drug clinical trials:

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Search NIH Clinical Center for Coloboma

Search CenterWatch for Coloboma

Genetic Tests for Coloboma

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20GeneTests, 22GTR
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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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32MalaCards
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MalaCards organs/tissues related to Coloboma:

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

Animal Models for Coloboma or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Coloboma:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000118610.4PAX2, PAX6, VSX2, PITX2
2MP:000539110.1PAX2, PITX2, SHH, GDF6, VSX2, RAX

Publications for Coloboma

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50PubMed
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Articles related to Coloboma:

(show top 50)    (show all 517)
idTitleAuthorsYear
1
Mutation of SALL2 causes recessive ocular coloboma in humans and mice. (24412933)
2014
2
Iridal coloboma induces dyscoria during miosis in FLS mice. (22813095)
2013
3
Deficient FGF signaling causes optic nerve dysgenesis and ocular coloboma. (23720040)
2013
4
Pattern of blood vessels in eyes with coloboma. (24413826)
2013
5
Coloboma and anorectal malformations: a rare association with important clinical implications. (23907175)
2013
6
Congenital upper eyelid coloboma with ipsilateral eyebrow hypoplasia. (23050409)
2012
7
Hydranencephaly associated with cerebellar involvement and bilateral microphthalmia and colobomas. (20577730)
2011
8
Bilateral aniridia lenticular coloboma and snowflake retinal degeneration. (19205498)
2009
9
Photorefractive keratectomy in iris and choroidal coloboma using Pulzar Z1 solid-state technology from Customvis, Australia. (18654605)
2009
10
A case of renal-coloboma syndrome associated with mental developmental delay exhibiting a novel PAX2 gene mutation. (19954729)
2009
11
Familial blepharophimosis-like syndrome with esotropia, uveal coloboma, and short stature. (17050282)
2006
12
Nager acrofacial dysostosis: an unusual association with both upper and lower eyelid colobomas. (16877861)
2006
13
Surgical technique for congenital iris coloboma repair. (17081895)
2006
14
Absence of SIX6 mutations in microphthalmia, anophthalmia, and coloboma. (15505031)
2004
15
Spontaneous resolution of optic nerve coloboma-associated retinal detachment. (15609521)
2004
16
Autosomal dominant brachydactyly, coloboma and anterior segment dysgenesis. (15621880)
2004
17
Bony syngnathia, vertebral segmentation defect, coloboma, microcephaly and mental retardation: confirmation of Dobrow syndrome and review of syndromal syngnathias. (15365455)
2004
18
Congenital bilateral upper eyelid coloboma. (12673270)
2003
19
Ureteric bud apoptosis and renal hypoplasia in transgenic PAX2-Bax fetal mice mimics the renal-coloboma syndrome. (14569086)
2003
20
Optic nerve dysplasia and renal insufficiency in a family with a novel PAX2 mutation, Arg115X: further ophthalmologic delineation of the renal-coloboma syndrome. (14566649)
2003
21
Diagnostic ophthalmology. Bilateral lenticular coloboma and cortical cataracts. (12677698)
2003
22
The familial contribution to non-syndromic ocular coloboma in south India. (12598450)
2003
23
Correction of eyelid coloboma in four cats using subdermal collagen and a modified Stades technique. (12445297)
2002
24
Cerebellar vermis defect, oligophrenia, congenital ataxia, and hepatic fibrocirrhosis without coloboma and renal abnormalities: report of three cases. (12368986)
2002
25
Neuromuscular transmission and muscle contractility in SNAP-25-deficient coloboma mice. (11829411)
2001
26
High myopia, hypertelorism, iris coloboma, exomphalos, absent corpus callosum, and sensorineural deafness: report of a case and further evidence for autosomal recessive inheritance. (10794262)
2000
27
Choroidal coloboma in two members of a family. (9562101)
1998
28
Coloboma of the optic disk associated with retinal vascular abnormalities. (8540556)
1995
29
Morning Glory fundus anomaly, coloboma of the optic nerve, porencephaly and hydronephrosis in a newborn infant: MCPH entity. (8574421)
1995
30
Optic nerve coloboma in Down syndrome. (7606327)
1995
31
Ophthalmoscopic visualization of the inferior ophthalmic vein through a chorioretinal coloboma. (7832239)
1995
32
Photoreceptor orientation in iris coloboma. (8152744)
1994
33
Morning glory disc anomaly or optic disc coloboma? (8311757)
1994
34
Lens coloboma and Alport-like glomerulonephritis. (7819734)
1994
35
A new syndrome with ptosis, coloboma and mental retardation. (1642810)
1992
36
An update on microphthalmos and coloboma. A brief survey of genetic disorders with microphthalmos and coloboma. (1923314)
1991
37
Unilateral disc-shaped cataract with coloboma of lens. (3411810)
1988
38
Single maxillary central incisor and coloboma in hypomelanosis of Ito. (3621638)
1987
39
Corneal changes in familial iris coloboma. (3703500)
1986
40
Multiple ocular coloboma (MOC) in snow leopards (Panthera uncia). Clinical report, pedigree analysis, chromosome investigations and serum protein studies. (4086323)
1985
41
Uveal colobomas and Klinefelter's syndrome. (6476050)
1984
42
A discussion of 61 cases of optic nerve coloboma. (6662005)
1983
43
Retinal detachment with coloboma of the choroid. (7346456)
1981
44
Retinal aplasia in association with macular coloboma, keratoconus and cataract. (4765210)
1973
45
Congenital coloboma of the upper eyelid. (4625826)
1972
46
Uveal coloboma and true Klinefelter syndrome. (4992342)
1970
47
Dermoid tumor of the cornea associated with coloboma of the upper lid and optic nerve. (14368844)
1954
48
Congenital bilateral coloboma of iris and chorioid; a case report. (13104607)
1953
49
Progeria? with erythema of hands and feet, partial alopecia, congenital coloboma and osteoporosis. (18210563)
1949
50
MACULAR COLOBOMA WITH BILATERAL GROUPED PIGMENTATION OF THE RETINA. (18170096)
1945

Genetic Variations for Coloboma

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Coloboma:

62
id Symbol AA change Variation ID SNP ID
1PAX6p.Phe258SerVAR_017542

Expression for genes affiliated with Coloboma

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1BioGPS, 15Gene 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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Compounds for genes affiliated with Coloboma

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GO Terms for genes affiliated with Coloboma

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16Gene Ontology
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Biological processes related to Coloboma according to GeneCards/GeneDecks:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1formation of anatomical boundaryGO:04885910.7GDF3, SHH
2camera-type eye developmentGO:04301010.7PAX2, RAX, SHH, PITX2
3visual perceptionGO:00760110.7PAX2, PAX6, RAX, VSX2
4iris morphogenesisGO:06107210.6PITX2, PAX6
5cell fate determinationGO:00170910.6PAX2, PAX6
6positive regulation of transcription from RNA polymerase II promoterGO:04594410.6PITX2, SHH, IGBP1, VSX2, PAX6, PAX2
7hindbrain developmentGO:03090210.6SHH, PAX6
8positive regulation of neuroblast proliferationGO:00205210.6SHH, PAX6
9neuron fate commitmentGO:04866310.5SHH, PAX6
10pancreas developmentGO:03101610.5SHH, PAX2
11growthGO:04000710.5GDF3, GDF6
12eye developmentGO:00165410.4GDF3, PAX6
13embryonic hindlimb morphogenesisGO:03511610.1SHH, PITX2

Molecular functions related to Coloboma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1growth factor activityGO:00808310.4CECR1, GDF3, GDF6

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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet