MCID: CLB001
MIFTS: 54

Coloboma malady

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

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 peters anomaly and anophthalmia/microphthalmia, and has symptoms including autosomal dominant inheritanceand macular coloboma. An important gene associated with Coloboma is GDF3 (growth differentiation factor 3), and among its related pathways are Transcription factors in neurogenesis and the visual cycle I (vertebrates). The compound mitoxantrone have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and brain, and related mouse phenotypes are pigmentation and hearing/vestibular/ear.

Disease Ontology:9 An eye disease characterized by missing pieces of tissue in structures that form the eye, such as the iris, retina, choroid or optic disc.

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

Aliases & Classifications for Coloboma

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Sources:
9Disease Ontology, 41NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 11DISEASES, 43Novoseek, 47Orphanet, 22GTR, 60UMLS, 33MeSH, 55SNOMED-CT, 26ICD10 via Orphanet
See all sources

Coloboma, Aliases & Descriptions:

Name: Coloboma 9 20 21 11 43
Congenital Ocular Coloboma 9 21 22
Coloboma of Macula 9 41 47
Hereditary Macular Coloboma 41 60
Microphthalmia, Isolated, with Coloboma 21
 
Uveoretinal Coloboma 21
Agenesis of Macula 41
Macular Coloboma 41
Ocular Coloboma 21
Coloboma of Eye 9


Classifications:

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


External Ids:

Disease Ontology9 DOID:12270
MeSH33 D003103
SNOMED-CT55 92828000, 93390002
Orphanet47 98945
ICD10 via Orphanet26 Q14.8

Related Diseases for Coloboma

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

(show top 50)    (show all 346)
idRelated DiseaseScoreTop Affiliating Genes
1peters anomaly30.7CYP1B1, PAX6
2anophthalmia/microphthalmia30.6RAX, PAX2
3microphthalmia30.5RAX, PAX6, PAX2, GDF6, STRA6
4microcephaly30.4PAX6, SHH
5choroiditis10.7
6retinitis10.7
7papillorenal syndrome10.6
8retinochoroidal coloboma10.6
9retinal detachment10.5
10cataract10.4
11mental retardation10.4
12coloboma of optic nerve10.4
13coloboma of iris10.4
14renal dysplasia10.4PAX2
15chorioretinitis10.4
16cat eye syndrome10.4
17nasopalpebral lipoma coloboma syndrome10.4
18microtia with nasolacrimal duct imperforation and eye coloboma10.4
19coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation10.4
20temtamy syndrome10.4
21coach syndrome10.3
22microphthalmia, syndromic 110.3
23microcornea posterior megalolenticonus persistent fetal vasculature coloboma10.3
24charge syndrome10.3
25corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia10.3
26otodental dysplasia10.3
27wilms tumor10.3PAX2, PAX6
28coloboma, ocular, autosomal recessive10.3
29microphthalmia with coloboma 6, digenic10.3
30ptosis10.3
31coloboma of macula with type b brachydactyly10.3
32uveal coloboma - cleft lip and palate - intellectual disability10.3
33abruzzo-erickson syndrome10.2
34microphthalmia with coloboma 510.2
35microphthalmia with coloboma 310.2
36chime syndrome10.2
37holoprosencephaly10.2
38coloboma, cleft lip/palate and mental retardation syndrome10.2
39curry jones syndrome10.2
40morning glory syndrome10.2
41glaucoma 3a, primary open angle, congenital, juvenile, or adult onset10.2CYP1B1, PAX6
42klippel-feil syndrome10.2GDF6, GDF3
43focal segmental glomerulosclerosis10.2PAX2, RBP4
44axenfeld-rieger syndrome, type 310.2PAX6, CYP1B1
45developmental disabilities10.2PAX2, PAX6
46treacher collins syndrome 110.2
47branchiooculofacial syndrome10.2
48lipoma10.2
49retinol dystrophy, iris coloboma, and comedogenic acne syndrome10.2
50baraitser-winter syndrome10.2

Graphical network of the top 20 diseases related to Coloboma:



Diseases related to coloboma

Symptoms for Coloboma

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HPO human phenotypes related to Coloboma:

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 macular coloboma HP:0001116

Drugs & Therapeutics for Coloboma

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Drug clinical trials:

Search ClinicalTrials for Coloboma

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:

31
Eye, Retina, Brain, Heart, Kidney, Spinal cord, Smooth muscle, Skin, Testes, Tongue, Pineal, Pituitary

Animal Models for Coloboma or affiliated genes

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MGI Mouse Phenotypes related to Coloboma:

35 (show all 11)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011868.9PAX2, PAX6, STRA6
2MP:00053778.7PAX6, PAX2, SHH, GDF6
3MP:00053828.7RAX, PAX6, SHH, GDF6
4MP:00028738.2GDF3, SHH, PAX6, RAX, RBP4
5MP:00053808.0GDF3, SHH, PAX2, PAX6, STRA6, RAX
6MP:00053787.7GDF3, GDF6, SHH, PAX6, STRA6, RAX
7MP:00053847.7GDF3, ABCB6, SHH, PAX2, PAX6, RAX
8MP:00036317.4GDF6, IGBP1, SHH, PAX2, PAX6, STRA6
9MP:00053767.3GDF3, ABCB6, CYP1B1, SHH, PAX6, STRA6
10MP:00107687.2GDF3, GDF6, ABCB6, SHH, PAX2, PAX6
11MP:00053917.1RBP4, GDF6, CYP1B1, SHH, PAX2, PAX6

Publications for Coloboma

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Articles related to Coloboma:

(show top 50)    (show all 535)
idTitleAuthorsYear
1
Congenital upper eyelid coloboma: embryologic, nomenclatorial, nosologic, etiologic, pathogenetic, epidemiologic, clinical, and management perspectives. (25419956)
2015
2
Upper Eyelid Coloboma Repair Using Accessory Preauricular Cartilage in a Patient With Goldenhar Syndrome: Technique Revisited. (25514664)
2014
3
Choroidal coloboma in a case of tay-sachs disease. (25295204)
2014
4
Outcomes of phacoemulsification in eyes with congenital choroidal coloboma. (23740521)
2013
5
RE: On a retinochoroidal coloboma. (22883851)
2012
6
Intraoperative OCT of bilateral macular coloboma in a child with Down syndrome. (21766737)
2011
7
Inferior ectopic pupil and typical ocular coloboma in RCS rats. (22330254)
2011
8
Pigmented free-floating vitreous cyst in a patient with high myopia and uveal coloboma simulating choroidal melanoma. (21485975)
2011
9
Lens coloboma and associated ocular malformations. (21692210)
2011
10
Mutational screening of CHX10, GDF6, OTX2, RAX and SOX2 genes in 50 unrelated microphthalmia-anophthalmia-coloboma (MAC) spectrum cases. (20494911)
2010
11
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
12
Spontaneous scleral rupture adjacent to retinochoroidal coloboma. (25390595)
2008
13
Long-term anatomical and visual outcome of vitreous surgery for retinal detachment with choroidal coloboma. (17189899)
2007
14
Familial blepharophimosis-like syndrome with esotropia, uveal coloboma, and short stature. (17050282)
2006
15
Dynamic atypical optic nerve coloboma associated with transient macular detachment. (16344452)
2005
16
Autosomal dominant microtia and ocular coloboma: new syndrome or an extension of the oculo-auriculo-vertebral spectrum? (15800906)
2005
17
PHACE syndrome: association with persistent fetal vasculature and coloboma-like iris defect. (15492745)
2004
18
Absence of SIX6 mutations in microphthalmia, anophthalmia, and coloboma. (15505031)
2004
19
Renal-coloboma syndrome]. (12410411)
2002
20
Correction of eyelid coloboma in four cats using subdermal collagen and a modified Stades technique. (12445297)
2002
21
Coloboma mouse mutant as an animal model of hyperkinesis and attention deficit hyperactivity disorder. (10654661)
2000
22
PAX2 mutations in renal-coloboma syndrome: mutational hotspot and germline mosaicism. (11093271)
2000
23
Microphthalmos and optic disc coloboma associated with a retrobulbar cyst. (11124677)
2000
24
The prevalence of PAX2 mutations in patients with isolated colobomas or colobomas associated with urogenital anomalies. (9783702)
1998
25
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
26
Previously apparently undescribed syndrome: shallow orbits, ptosis, coloboma, trigonocephaly, gyral malformations, and mental and growth retardation. (7545868)
1995
27
Unexpected familial recurrence of iris coloboma. A delayed mutation mechanism? (8556825)
1995
28
Coloboma of the optic disk associated with retinal vascular abnormalities. (8540556)
1995
29
Ptosis, coloboma, hypertelorism and mental retardation. (8471225)
1993
30
Retinochoroidal coloboma and subretinal neovascularization. (2029115)
1991
31
Coloboma: evaluation with real-time sonography. (2105034)
1990
32
Iris reconstruction by coloboma repair. (2616126)
1989
33
Iris coloboma, ptosis, hypertelorism, and mental retardation. (2918534)
1989
34
Unilateral disc-shaped cataract with coloboma of lens. (3411810)
1988
35
CT images in constitutional abnormalities of the posterior pole of the eye: optic disc coloboma, posterior pole staphyloma. (3091785)
1986
36
Bilateral coloboma of lens in Marfan's syndrome. (3841870)
1985
37
Spontaneous posterior bulbar perforation of congenital scleral coloboma and its surgical treatment: a case report. (2410845)
1985
38
Multiple ocular coloboma (MOC) in snow leopards (Panthera uncia). Clinical report, pedigree analysis, chromosome investigations and serum protein studies. (4086323)
1985
39
Esophageal atresia, coloboma, and clubfoot in two unrelated infants. (6469248)
1984
40
Inheritance of microphthalmia with coloboma in the Australian shepherd dog. (7325429)
1981
41
Selective atrophy in the lateral geniculate nucleus associated with iris coloboma in cat. (860750)
1977
42
Bilateral microcornea, coloboma, short stature and other skeletal anomalies - a new hereditary syndrome. (974245)
1976
43
Letter: Coloboma in Charolais. (1119070)
1975
44
Atypical coloboma in the optic disc of a Beagle. (1141461)
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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Clinvar genetic disease variations for Coloboma:

6
id Gene Variation Type Significance SNP ID Assembly Location
1GDF3NM_020634.1(GDF3): c.914T> C (p.Leu305Pro)single nucleotide variantPathogenicrs387906945GRCh37Chr 12, 7842655: 7842655
2CYP1B1NM_000104.3(CYP1B1): c.1103G> A (p.Arg368His)single nucleotide variantPathogenicrs79204362GRCh37Chr 2, 38298394: 38298394

Expression for genes affiliated with Coloboma

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Search GEO for disease gene expression data for Coloboma.

Pathways for genes affiliated with Coloboma

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Pathways related to Coloboma according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.3RBP4, STRA6

Compounds for genes affiliated with Coloboma

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Sources:
43Novoseek, 49PharmGKB, 12DrugBank
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Compounds related to Coloboma according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1mitoxantrone43 49 1211.8CYP1B1, ABCB6

GO Terms for genes affiliated with Coloboma

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Cellular components related to Coloboma according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1protein complexGO:00432348.7RBP4, STRA6, PAX2
2extracellular spaceGO:00056158.5RBP4, SHH, GDF6, GDF3

Biological processes related to Coloboma according to GeneCards Suite gene sharing:

(show all 23)
idNameGO IDScoreTop Affiliating Genes
1cell fate determinationGO:000170910.1PAX2, PAX6
2growthGO:004000710.0GDF3, GDF6
3paramesonephric duct developmentGO:00612059.8STRA6, PAX2
4eye developmentGO:00016549.7PAX6, GDF3, RBP4
5formation of anatomical boundaryGO:00488599.7GDF3, SHH
6blood vessel developmentGO:00015689.7PAX6, STRA6
7glucose homeostasisGO:00425939.6PAX6, RBP4
8hindbrain developmentGO:00309029.6PAX6, SHH
9neuron fate commitmentGO:00486639.6SHH, PAX6
10positive regulation of neuroblast proliferationGO:00020529.6PAX6, SHH
11visual perceptionGO:00076019.6CYP1B1, PAX2, PAX6, RAX
12pancreas developmentGO:00310169.5PAX2, SHH
13branching involved in ureteric bud morphogenesisGO:00016589.4SHH, PAX2
14smoothened signaling pathwayGO:00072249.4PAX6, SHH
15negative regulation of cysteine-type endopeptidase activity involved in apoptotic processGO:00431549.4IGBP1, PAX2
16camera-type eye developmentGO:00430109.4PAX2, SHH, RAX
17embryonic skeletal system developmentGO:00487069.4SHH, RBP4
18retinoid metabolic processGO:00015239.3RBP4, STRA6
19pattern specification processGO:00073899.3SHH, RAX
20positive regulation of transcription, DNA-templatedGO:00458938.9GDF6, PAX2, SHH, PAX6
21lung developmentGO:00303248.8RBP4, STRA6, SHH
22heart developmentGO:00075078.8SHH, RBP4, STRA6
23positive regulation of transcription from RNA polymerase II promoterGO:00459448.7IGBP1, SHH, PAX2, PAX6

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
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet