MCID: CLB001
MIFTS: 52

Coloboma malady

Categories: Genetic diseases, Rare diseases, Eye diseases, Fetal diseases

Aliases & Classifications for Coloboma

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Aliases & Descriptions for Coloboma:

Name: Coloboma 10 22 23 47 12 36
Congenital Ocular Coloboma 10 23 24
Coloboma of Macula 10 45 51
Hereditary Macular Coloboma 45 65
Microphthalmia, Isolated, with Coloboma 23
 
Uveoretinal Coloboma 23
Agenesis of Macula 45
Macular Coloboma 45
Ocular Coloboma 23
Coloboma of Eye 10

Characteristics:



Classifications:



External Ids:

Disease Ontology10 DOID:12270
ICD1027 Q13.0
MeSH36 D003103
SNOMED-CT59 92828000, 93390002
NCIt42 C98877
Orphanet51 98945
ICD10 via Orphanet28 Q14.8
UMLS65 C0009363, C1852767

Summaries for Coloboma

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Genetics Home Reference:23 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 coloboma of optic nerve and anophthalmos with limb anomalies, and has symptoms including macular coloboma An important gene associated with Coloboma is PAX6 (Paired Box 6), and among its related pathways is Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers. Affiliated tissues include eye, retina and brain, and related mouse phenotypes are pigmentation and taste/olfaction.

Disease Ontology:10 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:68 A coloboma (from the Greek koloboma, meaning defect,) is a hole in one of the structures of the eye,... more...

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 490)
idRelated DiseaseScoreTop Affiliating Genes
1coloboma of optic nerve33.8GDF3, PAX6, SALL2
2anophthalmos with limb anomalies30.5OTX2, PAX6, VSX2
3microphthalmia with coloboma 512.4
4coloboma, ocular12.4
5microphthalmia, isolated, with coloboma 712.4
6microphthalmia, isolated, with coloboma 912.4
7microphthalmia with coloboma 6, digenic12.4
8corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia12.4
9retinochoroidal coloboma12.4
10microphthalmia with coloboma 312.4
11retinal dystrophy, iris coloboma, and comedogenic acne syndrome12.4
12coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation12.3
13coloboma of iris12.3
14coloboma, ocular, autosomal recessive12.3
15coloboma of eye lens12.3
16microphthalmia, isolated, with coloboma 1012.3
17coloboma, cleft lip/palate and mental retardation syndrome12.3
18uveal coloboma-cleft lip and palate-intellectual disability12.3
19microtia with nasolacrimal duct imperforation and eye coloboma12.2
20coloboma of macula with type b brachydactyly12.2
21nasopalpebral lipoma coloboma syndrome12.2
22cerebral-cerebellar-coloboma syndrome, x-linked12.2
23coloboma of optic papilla12.2
24microcornea posterior megalolenticonus persistent fetal vasculature coloboma12.2
25coloboma of inferior eyelid12.2
26coloboma of superior eyelid12.2
27papillorenal syndrome12.1
28microphthalmia/anophthalmia/coloboma spectrum12.1
29amelia cleft lip palate hydrocephalus iris coloboma12.1
30coloboma of alar-nasal cartilages with telecanthus12.1
31coloboma porencephaly hydronephrosis12.1
32esophageal atresia coloboma talipes12.1
33hypercalcinuria macular coloboma12.1
34ptosis coloboma mental retardation12.1
35short limb dwarf edema iris coloboma12.1
36hypospadias-hypertelorism-coloboma and deafness syndrome12.1
37alar cartilages hypoplasia-coloboma-telecanthus syndrome12.1
38nasopalpebral lipoma-coloboma-telecanthus syndrome12.1
39macular coloboma-cleft palate-hallux valgus syndrome12.1
40coloboma of eyelid12.1
41coach syndrome11.8
42temtamy syndrome11.7
43microphthalmia, syndromic 911.7
44chime syndrome11.7
45baraitser-winter syndrome 111.7
46charge syndrome11.6
47kahrizi syndrome11.5
48manitoba oculotrichoanal syndrome11.5
49baraitser-winter syndrome11.4
50abruzzo-erickson syndrome11.4

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 macular coloboma HP:0001116

Drugs & Therapeutics for Coloboma

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Drugs for Coloboma (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Ophthalmic SolutionsPhase 11006
2Pharmaceutical SolutionsPhase 17004
3Liver Extracts3572

Interventional clinical trials:

idNameStatusNCT IDPhase
1Spectral Domain Optical Coherence Tomography Imaging of the Eyes of NeonatesCompletedNCT01404247Phase 1
2Evaluation and Treatment of Pediatric, Developmental, and Genetic Eye DiseasesCompletedNCT00076271
3Quality of Life in Children Glaucoma and CataractCompletedNCT02490267
4Genetics of Uveal ColobomaRecruitingNCT01778543
5A More Engaging Visual Field Test to Increase Use and Reliability in PediatricsRecruitingNCT02157025
6Craniofacial Microsomia: Longitudinal Outcomes in Children Pre-Kindergarten (CLOCK)RecruitingNCT02224677
7Whole Exome and Whole Genome Sequencing for Genotyping of Inherited and Congenital Eye ConditionsRecruitingNCT02077894
8Clinical and Molecular Investigations Into CiliopathiesRecruitingNCT00068224
9Family Studies of Uveal ColobomaTerminatedNCT00368004

Search NIH Clinical Center for Coloboma


Cochrane evidence based reviews: coloboma

Genetic Tests for Coloboma

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Genetic tests related to Coloboma:

id Genetic test Affiliating Genes
1 Coloboma22

Anatomical Context for Coloboma

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MalaCards organs/tissues related to Coloboma:

33
Eye, Retina, Brain, Breast, T cells, Endothelial, Testes

Animal Models for Coloboma or affiliated genes

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MGI Mouse Phenotypes related to Coloboma:

38 (show all 11)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.8OTX2, PAX2, PAX6, VSX2
2MP:00053949.7OTX2, PAX6, SNAP25
3MP:00053778.7CHD7, OTX2, PAX2, PAX6, SNAP25
4MP:00053807.9CHD7, GDF3, OTX2, PAX2, PAX6, RAX
5MP:00053897.8CHD7, OTX2, PAX2, PAX6, RBP4, SNAP25
6MP:00028737.7GDF3, OTX2, PAX6, RAX, RBP4, SALL2
7MP:00053797.5CHD7, IGBP1, OTX2, PAX2, PAX6, RBP4
8MP:00053847.2ABCB6, CHD7, GDF3, OTX2, PAX2, PAX6
9MP:00036316.9CHD7, IGBP1, OTX2, PAX2, PAX6, RAX
10MP:00053916.8CHD7, CYP1B1, OTX2, PAX2, PAX6, RAX
11MP:00107686.0ABCB6, CHD7, GDF3, OTX2, PAX2, PAX6

Publications for Coloboma

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Articles related to Coloboma:

(show top 50)    (show all 553)
idTitleAuthorsYear
1
Flibanserin (Addyi) for Hypoactive Sexual Desire Disorder in Premenopausal Women. (27175717)
2016
2
Updating the epidemiology of dermatophyte infections in Palestine with special reference to concomitant dermatophytosis. (25835157)
2015
3
Effects of polymorphic variation on the mechanism of Endoplasmic Reticulum Aminopeptidase 1. (26224046)
2015
4
ECT2 regulates the Rho/ERK signalling axis to promote early recurrence in human hepatocellular carcinoma. (25617497)
2015
5
Nanotechnology in Phytotherapy: Antiinflammatory Effect of a Nanostructured Thymol Gel from Lippia sidoides in Acute Periodontitis in Rats. (26553130)
2015
6
From Mitchell's causalgia to complex regional pain syndromes: 150 years of definitions and theories. (25786040)
2015
7
A comparison of ultrasonographic and electrophysiologic 'inching' in ulnar neuropathy at the elbow. (24962009)
2014
8
Phospho-Bcl-xL(Ser62) influences spindle assembly and chromosome segregation during mitosis. (24621501)
2014
9
Extensive transcriptional complexity during hypoxia-regulated expression of the myoglobin gene in cancer. (24026678)
2014
10
Dominant I^-catenin mutations cause intellectual disability with recognizable syndromic features. (24614104)
2014
11
Expression of moesin and CD44 is associated with poor prognosis in gastric adenocarcinoma. (23889297)
2013
12
An HLA-DRB1-coded signal transduction ligand facilitates inflammatory arthritis: a new mechanism of autoimmunity. (23180817)
2013
13
The -308 G>A SNP of TNFA is a factor predisposing to chronic rhinosinusitis associated with nasal polyposis in aspirin-sensitive Hungarian individuals: conclusions of a genetic study with multiple stratifications. (23446846)
2013
14
Frequent amplification of CENPF, GMNN and CDK13 genes in hepatocellular carcinomas. (22912832)
2012
15
An external validation study of a classification of mixed connective tissue disease and systemic lupus erythematosus patients. (22805362)
2012
16
Torsade de pointes during sevoflurane anesthesia and fluconazole infusion in a patient with long QT syndrome. A case report. (21919379)
2011
17
Genotype/phenotype correlation in nephrotic syndrome caused by WT1 mutations. (20595692)
2010
18
Correlation between natural cytotoxicity receptors and intracellular cytokine expression of peripheral blood NK cells in women with recurrent pregnancy losses and implantation failures. (19821805)
2009
19
Targeting neurotrophin receptors in the central nervous system. (18289034)
2008
20
Causative agents of canine babesiosis in Brazil. (17980446)
2008
21
Signaling networks assembled by oncogenic EGFR and c-Met. (18180459)
2008
22
Endogenous and exogenous cardiac glycosides and their mechanisms of action. (17610345)
2007
23
The absence of human equilibrative nucleoside transporter 1 expression predicts nonresponse to gemcitabine-containing chemotherapy in non-small cell lung cancer. (17658213)
2007
24
Src tyrosine kinase as a chemotherapeutic target: is there a clinical case? (16428929)
2006
25
Gene symbol: SPAST. Disease: Spastic paraparesis. Accession #Hd0519. (17297686)
2006
26
HPV-mediated transformation of the anogenital tract. (15753009)
2005
27
Genetic basis of short stature. (16114273)
2005
28
Ionic permeation and conduction properties of neuronal KCNQ2/KCNQ3 potassium channels. (14990473)
2004
29
Molecular mechanisms of mammalian DNA repair and the DNA damage checkpoints. (15189136)
2004
30
Acute basilar artery occlusion treated by thromboaspiration in a cocaine and ecstasy abuser. (14504335)
2003
31
Immunohistochemical analyses of colon cancer in I1307K APC mutation carriers compared with noncarriers. (12822869)
2003
32
Study of allergic fungal sinusitis in 40 surgical cases of chronic paranasal sinusitis]. (12607281)
2002
33
Altered expression of connexins 26 and 43 in Sertoli cells in seminiferous tubules infiltrated with carcinoma-in-situ or seminoma. (12210085)
2002
34
Spinal muscular atrophy of childhood at the edge of the centuries. (11996521)
2001
35
Characterization of human FSD1, a novel brain specific gene on chromosome 19 with paralogy to 9q31. (11267680)
2001
36
A feasibility study of salivary gland autograft transplantation for xerostomia. (10748447)
2000
37
Phase I pharmacokinetic trial of perillyl alcohol (NSC 641066) in patients with refractory solid malignancies. (10955786)
2000
38
Changes in urine macromolecular composition during processing. (10840465)
2000
39
Influence of alpha-thalassemia trait on the prevalence and severity of anemia in pregnancy among women in Kuwait. (11154980)
2000
40
Isolation of a human endogenous retroviral HERV-H element with an open env reading frame. (10366582)
1999
41
Structure and activity of rat pancreatic lipase-related protein 2. (9822688)
1998
42
Plasma acylation-stimulating protein in coronary artery disease. (9261252)
1997
43
Glucocorticoids modulate G-protein alpha-subunit levels in PC12 cells. (9221939)
1997
44
Altered endothelin homeostasis in patients undergoing liver transplantation. (9346677)
1996
45
Tourniquet-induced tibial nerve palsy complicating anterior cruciate ligament reconstruction. (8534308)
1995
46
Trypsin inhibition: a potential cause of cobalamin deficiency common to the pathogenesis of Alzheimer-type dementia and AIDS dementia complex? (8531843)
1995
47
Is CA125 useful in the management of recurrence of endometrial carcinoma?]. (7594902)
1995
48
Ipriflavone inhibits phosphoinositide hydrolysis and Ca2+ uptake in the osteoblast-like UMR-106 cells. (1330635)
1992
49
Exchange transfusion in hepatic coma: report of a case. (13503416)
1958
50
Subacute bacterial endocarditis in relation to dental infection. (15397339)
1949

Variations for Coloboma

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Clinvar genetic disease variations for Coloboma:

5
id Gene Variation Type Significance SNP ID Assembly Location
1CYP1B1NM_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 pathwaysScoreTop Affiliating Genes
19.7OTX2, PAX2, PAX6

GO Terms for genes affiliated with Coloboma

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1blood vessel developmentGO:000156810.0CHD7, PAX6
2retina development in camera-type eyeGO:006004110.0CHD7, PAX6
3cell fate determinationGO:00017099.9PAX2, PAX6
4eye developmentGO:00016549.7GDF3, PAX6, SALL2
5camera-type eye developmentGO:00430109.5CHD7, PAX2, RAX
6locomotory behaviorGO:00076269.4CHD7, SNAP25
7visual perceptionGO:00076017.6CYP1B1, PAX2, PAX6, RAX, RBP4, VSX2

Sources for Coloboma

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet