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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Sources:
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:

Search ClinicalTrials for Coloboma

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, Pituitary, Testes, Spinal cord, Tongue, Skin, Pineal

Animal Models for Coloboma or affiliated genes

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Sources:
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
Congenital left upper eyelid coloboma. (24000518)
2013
2
Systemic diagnostic testing in patients with apparently isolated uveal coloboma. (24012100)
2013
3
Anal atresia, coloboma, microphthalmia, and nasal skin tag in a female patient with 3.5a88Mb deletion of 3q26 encompassing SOX2. (23613260)
2013
4
RE: On a retinochoroidal coloboma. (22883851)
2012
5
Organogenesis of mild ocular coloboma in FLS mice: failure of basement membrane disintegration at optic fissure margins. (22182670)
2012
6
Congenital isolated bilateral upper lid coloboma. (22344023)
2012
7
Early onset West syndrome with severe hypomyelination and coloboma-like optic discs in a girl with SPTAN1 mutation. (22429196)
2012
8
Pigmented free-floating vitreous cyst in a patient with high myopia and uveal coloboma simulating choroidal melanoma. (21485975)
2011
9
First implication of STRA6 mutations in isolated anophthalmia, microphthalmia, and coloboma: A new dimension to the STRA6 phenotype. (21901792)
2011
10
Array comparative genomic hybridization analysis in patients with anophthalmia, microphthalmia, and coloboma. (21285886)
2011
11
One-stage reconstruction technique for large congenital eyelid coloboma. (21780928)
2011
12
Surgical outcome of 21 patients with congenital upper eyelid coloboma. (22553521)
2010
13
Choroidal melanoma in a patient with congenital bilateral chorioretinal coloboma: a case report of an extremely rare association of ocular comorbities. (21225135)
2010
14
Iris coloboma, blepharophimosis, arachnodactyly, joint contractures: Beals syndrome and Van den Ende-Gupta syndrome phenotypic similarities. (19339880)
2009
15
Familial upper eyelid coloboma with ipsilateral anterior hairline abnormality: two new reports of MOTA syndrome. (19291776)
2009
16
Ocular coloboma and dorsoventral neuroretinal patterning defects in Lrp6 mutant eyes. (18985738)
2008
17
The alpha(2C)-adrenergic receptor mediates hyperactivity of coloboma mice, a model of attention deficit hyperactivity disorder. (16839770)
2006
18
Choroidal neovascularization in retinochoroidal coloboma: thermal laser treatment achieves long-term stabilization of visual acuity. (16151482)
2006
19
Optic disc coloboma and localized chorioretinal defects in constitutional partial trisomy 8 mosaicism. (17050287)
2006
20
Modified flexible iris retractor to retract superior iris and support inferior capsule in eyes with iris coloboma and inferior zonular deficiency. (16765784)
2006
21
PHACE syndrome: association with persistent fetal vasculature and coloboma-like iris defect. (15492745)
2004
22
Renal-coloboma syndrome]. (12410411)
2002
23
Split hand/split foot, iris/choroid coloboma, hypospadias and subfertility: a new developmental malformation syndrome? (12401986)
2002
24
Optic nerve entrance coloboma associated with situs inversus. (12532503)
2002
25
Congenital intraocular teratoma associated with eyelid coloboma. (11476702)
2001
26
Morning glory disk anomaly, choroidal coloboma, and congenital constrictive malformations of the internal carotid arteries (moyamoya disease). (10779846)
2000
27
Transgenic rescue of SNAP-25 restores dopamine-modulated synaptic transmission in the coloboma mutant. (10575087)
1999
28
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
29
Simple iris coloboma in a Greek family. (8689492)
1996
30
Morning glory disc anomaly or optic disc coloboma? (8311756)
1994
31
Ptosis, coloboma, hypertelorism and mental retardation. (8471225)
1993
32
Classification of microphthalmos and coloboma. (8411053)
1993
33
Inferior congenital iris coloboma and IOL implantation. (8229733)
1993
34
Renal Coloboma Syndrome (20301624)
1993
35
Update of sporadic microphthalmos and coloboma. Non-inherited anomalies. (1495761)
1992
36
Spontaneous retinal reattachment in a patient with persistent hyperplastic primary vitreous and an optic nerve coloboma. (1463051)
1992
37
White sponge naevus and ocular coloboma. (2031612)
1991
38
Congenital coloboma in a IIama. (17423822)
1991
39
Blepharophimosis, iris coloboma, microgenia, hearing loss, postaxial polydactyly, aplasia of corpus callosum, hydroureter, and developmental delay. (1694631)
1990
40
Retinochoroidal coloboma associated with subretinal neovascularization. (2416022)
1985
41
Coloboma of optic nerve associated with serous maculopathy. A clinicopathologic correlative study. (6548623)
1984
42
Coloboma of lens. (6500659)
1984
43
Ocular coloboma with congenital heart disease in the absence of chromosomal abnormalities. (7015216)
1980
44
Coloboma of eyelid and harelip. A case report. (4981563)
1969
45
ATYPICAL COLOBOMA OF THE CHOROID IN A DOG. (14072820)
1963
46
UNUSUAL COLOBOMA OF THE OPTIC NERVE ENTRANCE. (18170740)
1961
47
Atypical coloboma of choroid with dysplasia of macula; report of a case. (14894016)
1952
48
A CASE OF ATYPICAL COLOBOMA ASSOCIATED WITH ABNORMAL RETINAL VESSELS. (18168834)
1929
49
Two Cases of Congenital Coloboma of Iris and Choroid. (16692424)
1917
50
Coloboma of Iris in Mother and Child. (19978967)
1915

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