MCID: CLB009
MIFTS: 28

Coloboma of Iris

Categories: Eye diseases, Rare diseases

Aliases & Classifications for Coloboma of Iris

MalaCards integrated aliases for Coloboma of Iris:

Name: Coloboma of Iris 52 32
Iris Coloboma 29 54 6

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases


External Ids:

ICD10 32 Q13.0

Summaries for Coloboma of Iris

MalaCards based summary : Coloboma of Iris, also known as iris coloboma, is related to coloboma, ocular, autosomal dominant and coloboma of macula. An important gene associated with Coloboma of Iris is PRR12 (Proline Rich 12), and among its related pathways/superpathways is Ectoderm Differentiation. Affiliated tissues include eye, brain and skin, and related phenotypes are craniofacial and digestive/alimentary

Related Diseases for Coloboma of Iris

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

(show top 50) (show all 87)
# Related Disease Score Top Affiliating Genes
1 coloboma, ocular, autosomal dominant 32.4 TMEM67 PAX6
2 coloboma of macula 30.4 TMEM67 TFAP2A PAX6
3 hypertelorism 29.9 TFAP2A PAX6
4 pathologic nystagmus 29.1 TMEM67 TFAP2A PAX6
5 microphthalmia 29.0 TMEM67 TFAP2A PAX6
6 retinal dystrophy, iris coloboma, and comedogenic acne syndrome 12.8
7 retinal dystrophy and iris coloboma with or without congenital cataract 12.5
8 baraitser-winter syndrome 1 11.9
9 baraitser-winter syndrome 11.9
10 donnai-barrow syndrome 11.6
11 cataract microcornea syndrome 11.6
12 curry-jones syndrome 11.5
13 hydrocephalus, congenital, 2, with or without brain or eye anomalies 11.4
14 vagneur triolle ripert syndrome 11.4
15 wolf-hirschhorn syndrome 11.4
16 biemond syndrome ii 11.4
17 catel-manzke syndrome 11.3
18 chromosome 17q11.2 deletion syndrome 11.3
19 syngnathia multiple anomalies 11.3
20 focal dermal hypoplasia 11.2
21 cataract 10.3
22 ptosis 10.3
23 microcephaly 10.3
24 aniridia 1 10.1
25 hirschsprung disease 1 10.1
26 noonan syndrome 1 10.1
27 mowat-wilson syndrome 10.1
28 glaucoma-related pigment dispersion syndrome 10.1
29 goldberg-shprintzen syndrome 10.1
30 intraocular pressure quantitative trait locus 10.1
31 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
32 blepharophimosis 10.1
33 pseudo-turner syndrome 10.1
34 myopia 10.1
35 47,xyy 10.1
36 cleft palate, isolated 10.0
37 heterochromia iridis 10.0
38 keratitis, hereditary 10.0
39 lipomatosis, multiple 10.0
40 melanoma, uveal 10.0
41 polydactyly, postaxial, type a1 10.0
42 rubinstein-taybi syndrome 1 10.0
43 telecanthus 10.0
44 renal hypodysplasia/aplasia 1 10.0
45 velocardiofacial syndrome 10.0
46 temtamy syndrome 10.0
47 cryptorchidism, unilateral or bilateral 10.0
48 kaufman oculocerebrofacial syndrome 10.0
49 3-methylglutaconic aciduria, type iii 10.0
50 van den ende-gupta syndrome 10.0

Graphical network of the top 20 diseases related to Coloboma of Iris:



Diseases related to Coloboma of Iris

Symptoms & Phenotypes for Coloboma of Iris

MGI Mouse Phenotypes related to Coloboma of Iris:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.13 PAX6 TFAP2A TMEM67
2 digestive/alimentary MP:0005381 8.8 PAX6 TFAP2A TMEM67

Drugs & Therapeutics for Coloboma of Iris

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Family Studies of Uveal Coloboma Terminated NCT00368004

Search NIH Clinical Center for Coloboma of Iris

Genetic Tests for Coloboma of Iris

Genetic tests related to Coloboma of Iris:

# Genetic test Affiliating Genes
1 Iris Coloboma 29

Anatomical Context for Coloboma of Iris

MalaCards organs/tissues related to Coloboma of Iris:

40
Eye, Brain, Skin, Bone, Spinal Cord

Publications for Coloboma of Iris

Articles related to Coloboma of Iris:

(show top 50) (show all 199)
# Title Authors PMID Year
1
A new locus for congenital cataract, microcornea, microphthalmia, and atypical iris coloboma maps to chromosome 2. 54 61
19004499 2009
2
Anterior transposition of inferior oblique for inferior rectus muscle aplasia. 61
31942437 2019
3
SOLITARY RETINAL CAPILLARY HEMANGIOMA IN A PATIENT WITH BILATERAL CHORIORETINAL COLOBOMA. 61
28358746 2019
4
Sequence variations in TENM3 gene causing eye anomalies with intellectual disability: Expanding the phenotypic spectrum. 61
29753094 2019
5
Zika and the Eye: Pieces of a Puzzle. 61
29698814 2018
6
Modified sewing machine technique for iridodialysis repair, intraocular lens relocation, iris coloboma repair, Cionni ring fixation, and scleral-fixated intraocular lens. 61
30038167 2018
7
Commentary: Modified sewing machine technique: An innovative method for the management of iridodialysis, iris coloboma, and scleral fixation of intraocular lenses. 61
30038168 2018
8
Amniotic Band Syndrome: A Review of 2 Cases. 61
29634607 2018
9
De novo apparent loss-of-function mutations in PRR12 in three patients with intellectual disability and iris abnormalities. 61
29556724 2018
10
New ocular finding in Baraitser-Winter syndrome (BWS). 61
29024830 2018
11
Zika Virus and the Eye. 61
28318359 2018
12
Prevalence of Congenital Ocular Anomalies among Children with Genetic Disorders: An Egyptian Study. 61
28991511 2018
13
[Bilateral iris coloboma]. 61
30123404 2018
14
Parental Mosaicism in PAX6 Causes Intra-Familial Variability: Implications for Genetic Counseling of Congenital Aniridia and Microphthalmia. 61
30386378 2018
15
Mutation c.943G>T (p.Ala315Ser) in FGFR2 Causing a Mild Phenotype of Crouzon Craniofacial Dysostosis in a Three-Generation Family. 61
28611549 2017
16
Evaluations of Corneas in Eyes with Isolated Iris Coloboma. 61
27266586 2017
17
Coexistence of optic pit and coloboma of iris, lens, and choroid: a case report. 61
27982214 2016
18
Phacoemulsification with pupilloplasty in a patient with congenital cataract and iris colohoma - case report. 61
29727115 2016
19
A clinical study of Aicardi syndrome in Northern Ireland: the spectrum of ophthalmic findings. 61
27101753 2016
20
Ocular Findings in Infants With Microcephaly Associated With Presumed Zika Virus Congenital Infection in Salvador, Brazil. 61
26865554 2016
21
Phenotypic Expansion of Congenital Disorder of Glycosylation Due to SRD5A3 Null Mutation. 61
26219881 2016
22
Germline activating MTOR mutation arising through gonadal mosaicism in two brothers with megalencephaly and neurodevelopmental abnormalities. 61
26542245 2015
23
Goldberg-Shprintzen megacolon syndrome with associated sensory motor axonal neuropathy. 61
25846562 2015
24
Ascher's syndrome: A rare case report. 61
25971175 2015
25
Goltz syndrome: a newborn with ectrodactyly and skin lesions. 61
25814752 2015
26
Modified muscle transposition procedure for a case of inferior rectus muscle aplasia. 61
25852539 2015
27
Concurrent triplication and uniparental isodisomy: evidence for microhomology-mediated break-induced replication model for genomic rearrangements. 61
24713661 2015
28
Severe psychomotor delay in a severe presentation of cat-eye syndrome. 61
25648072 2015
29
Abrogation of HMX1 function causes rare oculoauricular syndrome associated with congenital cataract, anterior segment dysgenesis, and retinal dystrophy. 61
25574057 2015
30
Baraitser and Winter syndrome with growth hormone deficiency. 61
25624931 2014
31
Phenotype-genotype correlations in patients with Marinesco-Sjögren syndrome. 61
23829326 2014
32
Intraocular lens implantation for patients with coloboma of the iris. 61
24926350 2014
33
Chorioretinal coloboma in a paediatric population. 61
24675580 2014
34
Identification of a novel missense mutation of MAF in a Japanese family with congenital cataract by whole exome sequencing: a clinical report and review of literature. 61
24664492 2014
35
A de novo 1.4-Mb deletion at 21q22.11 in a boy with developmental delay. 61
24458657 2014
36
Ocular phenotype of Fbn2-null mice. 61
24130178 2013
37
Anal atresia, coloboma, microphthalmia, and nasal skin tag in a female patient with 3.5 Mb deletion of 3q26 encompassing SOX2. 61
23613260 2013
38
Iris coloboma in one eye and pigment dispersion syndrome in the fellow eye. 61
23704455 2013
39
Bilateral microphthalmos with unilateral superior cyst in a child with autism and CHARGE syndrome. 61
23111569 2013
40
Prevalence of olfactory and other developmental anomalies in patients with central hypogonadotropic hypogonadism. 61
23760293 2013
41
Oculoauriculovertebral spectrum with radial anomaly in child. 61
24479055 2013
42
A large novel deletion downstream of PAX6 gene in a Chinese family with ocular coloboma. 61
24349436 2013
43
Chromosome 6p25 deletion syndrome: report of a case with optic disc coloboma and review of published ophthalmic findings. 61
22497499 2012
44
Ophthalmic and systemic findings in interstitial deletions of chromosome 14q: a case report and literature review. 61
22486322 2012
45
Microphthalmia, late onset keratitis, and iris coloboma/aniridia in a family with a novel PAX6 mutation. 61
22171686 2012
46
Two novel mutations of the PAX6 gene causing different phenotype in a cohort of Chinese patients. 61
21904390 2011
47
Combined partial trisomy 11q and partial monosomy 10p in a 19-year-old female patient: phenotypic and genotypic findings. 61
22052712 2011
48
Lens coloboma and associated ocular malformations. 61
21692210 2011
49
Congenital ectropion uveae with iris coloboma and telecanthus. 61
21256075 2011
50
The development of recurrent choroidal neovascularization in a patient with choroidal coloboma. 61
21350699 2011

Variations for Coloboma of Iris

ClinVar genetic disease variations for Coloboma of Iris:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PRR12 NM_020719.3(PRR12):c.1918G>T (p.Glu640Ter)SNV Pathogenic 446254 rs1555740650 19:50099510-50099510 19:49596253-49596253
2 PRR12 NM_020719.3(PRR12):c.4502_4505del (p.Leu1501fs)deletion Pathogenic 446255 rs1555741826 19:50104903-50104906 19:49601646-49601649
3 PRR12 NM_020719.3(PRR12):c.903_909dup (p.Pro304fs)duplication Pathogenic 446256 rs1555740394 19:50098491-50098492 19:49595234-49595235
4 TFAP2A NM_001032280.3(TFAP2A):c.1019_1020del (p.Lys340fs)deletion Pathogenic 523459 rs1554110735 6:10398926-10398927 6:10398693-10398694
5 TMEM67 NM_001142301.1(TMEM67):c.271C>T (p.Arg91Ter)SNV Pathogenic/Likely pathogenic 506012 rs765468645 8:94777641-94777641 8:93765413-93765413
6 TMEM67 NM_001142301.1(TMEM67):c.2175_2180dup (p.724_725MN[3])duplication Likely pathogenic 523562 rs1554558365 8:94817079-94817080 8:93804851-93804852

Expression for Coloboma of Iris

Search GEO for disease gene expression data for Coloboma of Iris.

Pathways for Coloboma of Iris

Pathways related to Coloboma of Iris according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.78 TFAP2A PAX6

GO Terms for Coloboma of Iris

Molecular functions related to Coloboma of Iris according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription repressor activity, RNA polymerase II-specific GO:0001227 8.96 TFAP2A PAX6
2 transcription regulatory region DNA binding GO:0044212 8.62 TFAP2A PAX6

Sources for Coloboma of Iris

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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