MCID: CLB001
MIFTS: 56

Coloboma malady

Eye, Fetal categories

Summaries for Coloboma

Sources:
21Genetics Home Reference, 64Wikipedia, 47OMIM, 33MalaCards
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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 skin, tongue and spinal cord, and related mouse phenotypes are pigmentation and vision/eye.

Wikipedia:64 A coloboma (from the Greek koloboma, meaning defect,) is a hole in one of the structures of the eye,... more...

Description from OMIM:47 120200

Aliases & Classifications for Coloboma

Sources:
8Disease Ontology, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 35MeSH, 57SNOMED-CT, 61UMLS, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet
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Classifications:

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


Aliases & Descriptions:

coloboma 8 20 21 10 45
congenital ocular coloboma 8 22 21
microphthalmia, isolated, with coloboma 21
coloboma of choroid and retina 49
uveoretinal coloboma 21
coloboma of iris 49
coloboma, ocular 47
coloboma of eye 8
ocular coloboma 21


External Ids:

Disease Ontology8 DOID:12270
MeSH35 D003103
OMIM47 120200
SNOMED-CT57 92828000, 93390002
ICD10 via Orphanet26 Q14.8, Q13.0
SNOMED-CT via Orphanet58 9446007

Related Diseases for Coloboma

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 314)
idRelated DiseaseScoreTop Affiliating Genes
1renal coloboma syndrome31.0PAX2
2microphthalmia30.7GDF6, VSX2, RAX, PAX6, PAX2
3anophthalmia/microphthalmia30.3PAX2, RAX, VSX2, PITX2
4aniridia30.1PITX2, KIR2DS4, PAX6
5anophthalmia plus syndrome30.0PAX6, VSX2
6microphthalmia with coloboma 629.8GDF3
7microphthalmia with coloboma 329.8VSX2
8peters plus syndrome29.6PITX2, PAX6
9retinochoroidal coloboma10.5
10n syndrome10.5
11mental retardation10.4
12micro syndrome10.4
13coloboma of optic nerve10.3
14nasopalpebral lipoma coloboma syndrome10.3
15charge syndrome10.3
16ptosis coloboma mental retardation10.3
17microtia eye coloboma and imperforation of the nasolacrimal duct10.2
18temtamy syndrome10.2
19microcornea posterior megalolenticonus persistent fetal vasculature coloboma10.2
20nasopalpebral lipoma - coloboma - telecanthus10.2
21microcephaly10.2
22coach syndrome10.2
23cleft palate10.2
24coloboma of macula10.2
25coloboma of macula with type b brachydactyly10.2
26cat eye syndrome10.2
27coloboma, cleft lip/palate and mental retardation syndrome10.2
28agenesis of the corpus callosum with mental retardation, ocular coloboma, and micrognathia10.2
29char syndrome10.1
30oculofaciocardiodental syndrome10.1
31baraitser-winter syndrome10.1
32zunich neuroectodermal syndrome10.1
33cataract, congenital10.1
34uveal coloboma - cleft lip and palate - intellectual deficit10.1
35noonan syndrome10.1
36matthew-wood syndrome10.1
37hypospadias10.1
38joubert syndrome10.1
39amelia cleft lip palate hydrocephalus iris coloboma10.1
40frontonasal dysplasia10.1
41baraitser-winter syndrome 110.1
42hypospadias - hypertelorism - coloboma and deafness10.1
43otodental syndrome10.1
44attention deficit hyperactivity disorder10.0
45goldenhar syndrome10.0
46klinefelter's syndrome10.0
47wolf-hirschhorn syndrome10.0
48blepharophimosis10.0
49holoprosencephaly10.0
50short syndrome10.0

Graphical network of the top 20 diseases related to Coloboma:



Diseases related to coloboma

Clinical Features for Coloboma

Sources:
47OMIM
See all sources

Clinical features from OMIM:

120200

Clinical synopsis from OMIM:

120200

Drugs & Therapeutics for Coloboma

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

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

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Coloboma:

id Genetic test Affiliating Genes
1 Coloboma20
2 Congenital Ocular Coloboma22

Anatomical Context for Coloboma

Sources:
33MalaCards
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MalaCards organs/tissues related to Coloboma:

33
Skin, Tongue, Spinal cord, Brain, Kidney, Whole blood, Retina, Heart, Smooth muscle, Skeletal muscle, Myeloid, T cells, Fetal brain, Pineal, Pituitary

Animal Models for Coloboma or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Coloboma:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000118610.4PAX2, PAX6, VSX2, PITX2
2MP:000539110.1PAX2, PITX2, SHH, GDF6, VSX2, RAX

Publications for Coloboma

Sources:
51PubMed
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Articles related to Coloboma:

(show top 50)    (show all 558)
idTitleAuthorsYear
1
Iridal coloboma induces dyscoria during miosis in FLS mice. (22813095)
2013
2
Successful ABO-Incompatible Living-Donor Renal Transplant Without Splenectomy For Renal Coloboma Syndrome: A Case Report. (23902562)
2013
3
Aniridia associated with lens coloboma and secondary glaucoma treated with transcorneal argon laser ciliary body photocoagulation: a case report. (23898292)
2013
4
Retinal detachment associated with optic disc colobomas and morning glory syndrome. (22241012)
2012
5
Organogenesis of mild ocular coloboma in FLS mice: failure of basement membrane disintegration at optic fissure margins. (22182670)
2012
6
Inferior ectopic pupil and typical ocular coloboma in RCS rats. (22330254)
2011
7
Choroidal neovascularization associated with coloboma of the choroid: a series of three cases. (21350286)
2011
8
An autosomal recessive syndrome of severe mental retardation, cataract, coloboma and kyphosis maps to the pericentromeric region of chromosome 4. (18781183)
2009
9
Optical coherence tomographic finding in a case of macular coloboma. (17804926)
2007
10
Choroidal coloboma. (18054659)
2007
11
Congenital isolate and total optic disc coloboma: case report and review of the literature. (17914211)
2007
12
Renal hypoplasia without optic coloboma associated with PAX2 gene deletion. (17403695)
2007
13
Optic disc coloboma and localized chorioretinal defects in constitutional partial trisomy 8 mosaicism. (17050287)
2006
14
Autosomal dominant brachydactyly, coloboma and anterior segment dysgenesis. (15621880)
2004
15
A new X-linked syndrome with agenesis of the corpus callosum, mental retardation, coloboma, micrognathia, and a mutation in the alpha 4 gene at Xq13. (14556245)
2003
16
Unilateral giant coloboma of the upper eyelid associated with other congenital anomalies (33 years follow-up of surgical repair). (14620177)
2003
17
Novel mutation in sonic hedgehog in non-syndromic colobomatous microphthalmia. (12503095)
2003
18
A new association of congenital hydrocephalus, albinism, megalocornea, and retinal coloboma in a syndromic child: a clinical and genetic study. (11135491)
2000
19
Visual acuity in children with coloboma: clinical features and a new phenotypic classification system. (10711890)
2000
20
Retinoblastoma in an eye with congenital uveal coloboma. (10646753)
1998
21
Two brothers with hypospadias, hypertelorism, upper lid coloboma and mixed type hearing loss: a new syndrome. (9843000)
1998
22
Chorioretinal coloboma with hypoplasia of the inferior rectus muscle in a microphthalmic eye. (9503320)
1998
23
Further delineation of renal-coloboma syndrome in patients with extreme variability of phenotype and identical PAX2 mutations. (9106533)
1997
24
Imaging in optic nerve coloboma. (8692434)
1996
25
Optic disc in fundus coloboma. (9003347)
1996
26
Unexpected familial recurrence of iris coloboma. A delayed mutation mechanism? (8556825)
1995
27
Atypical retinochoroidal coloboma in patients with dysplastic optic discs and transsphenoidal encephalocele. (7748133)
1995
28
Optic nerve coloboma (morning glory syndrome): CT findings. (8134598)
1994
29
Peripapillary choroidal neovascular membrane associated with an optic nerve coloboma. (7682407)
1993
30
Classification of microphthalmos and coloboma. (8411053)
1993
31
Two cases of coloboma associated with unbalanced translocations. (8435414)
1993
32
Update of sporadic microphthalmos and coloboma. Non-inherited anomalies. (1495761)
1992
33
Microphthalmos with colobomatous orbital cyst in trisomy 13. (1881654)
1991
34
Coloboma: evaluation with real-time sonography. (2105034)
1990
35
Ocular coloboma associated with a solitary maxillary central incisor and growth failure: manifestations of holoprosencephaly. (3113318)
1987
36
Chorioretinal coloboma and Joubert syndrome: a nonrandom association. (6747764)
1984
37
Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association. (6166737)
1981
38
Retinal detachment with coloboma of the choroid. (7346456)
1981
39
Brief Clinical Report: coloboma hypospadias. (7246606)
1981
40
Coloboma of optic nerve with overlay of peripapillary retina. (666981)
1978
41
Selective atrophy in the lateral geniculate nucleus associated with iris coloboma in cat. (860750)
1977
42
Correspondence: Coloboma in Charolais. (804205)
1975
43
Bilateral macular coloboma, keratoconus, and retinitis pigmentosa. (5164435)
1971
44
Coloboma of eyelid and harelip. A case report. (4981563)
1969
45
Microcornea with high myopia, coloboma of iris and exophthalmos: report of a case. (13898627)
1962
46
Arthropathia Progressiva Mutilans: Congenital Coloboma-Partially Sighted: Gross Dorsal Scoliosis. (19994003)
1959
47
Dermoid tumor of the cornea associated with coloboma of the upper lid and optic nerve. (14368844)
1954
48
A case of atypical coloboma. (14845841)
1950
49
Coloboma of the optic nerve. (18121101)
1949
50
Summarized Reports of Eight Cases of Coloboma of Iris and Choroid (Congenital). (19989749)
1934

Genetic Variations for Coloboma

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Coloboma:

63
id Symbol AA change Variation SNP ID
1PAX6p.Phe258SerVAR_017542

Expression for genes affiliated with Coloboma

Sources:
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

Compounds for genes affiliated with Coloboma

GO Terms for genes affiliated with Coloboma

Sources:
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

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet