MCID: CLB009
MIFTS: 26

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 53
Iris Coloboma 29 55 6

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases


External Ids:

ICD10 33 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 TMEM67 (Transmembrane Protein 67), and among its related pathways/superpathways is Ectoderm Differentiation. Affiliated tissues include eye, brain and spinal cord, 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 all 50)
# Related Disease Score Top Affiliating Genes
1 coloboma, ocular, autosomal dominant 32.6 PAX6 TMEM67
2 coloboma of macula 30.2 PAX6 PRR12 TFAP2A TMEM67
3 microphthalmia 29.9 PAX6 TFAP2A
4 retinal dystrophy, iris coloboma, and comedogenic acne syndrome 12.6
5 retinal dystrophy and iris coloboma with or without congenital cataract 12.3
6 short limb dwarf edema iris coloboma 12.2
7 brachial amelia, cleft lip, and holoprosencephaly 11.8
8 baraitser-winter syndrome 11.7
9 goldberg-shprintzen syndrome 11.4
10 baraitser-winter syndrome 1 11.4
11 curry-jones syndrome 11.4
12 hydrocephalus, congenital, 2, with or without brain or eye anomalies 11.3
13 vagneur triolle ripert syndrome 11.2
14 wolf-hirschhorn syndrome 11.2
15 biemond syndrome ii 11.2
16 wegmann jones smith syndrome 11.2
17 catel-manzke syndrome 11.1
18 cataract microcornea syndrome 11.1
19 chromosome 17q11.2 deletion syndrome 11.1
20 syngnathia multiple anomalies 11.1
21 focal dermal hypoplasia 11.1
22 hypertelorism 10.3
23 ptosis 10.3
24 microcephaly 10.3
25 cataract 10.2
26 noonan syndrome 1 10.1
27 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
28 blepharophimosis 10.1
29 pseudo-turner syndrome 10.1
30 hirschsprung disease 1 10.0
31 telecanthus 10.0
32 3-methylglutaconic aciduria, type iii 10.0
33 glaucoma-related pigment dispersion syndrome 10.0
34 van den ende-gupta syndrome 10.0
35 chylothorax, congenital 10.0
36 polydactyly 10.0
37 chromosome 16p13.3 deletion syndrome, proximal 10.0
38 encephalocraniocutaneous lipomatosis 10.0
39 alacrima, achalasia, and mental retardation syndrome 10.0
40 limbal stem cell deficiency 10.0
41 megacolon 10.0
42 ectropion 10.0
43 lipomatosis 10.0
44 chorioretinitis 10.0
45 congenital ectropion uveae 10.0
46 glaucoma 3, primary congenital, a 9.9
47 myopia 9.9
48 exophthalmos 9.9
49 ring chromosome 3 9.9
50 pathologic nystagmus 9.7 PAX6 TFAP2A TMEM67

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:

46
# 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 Effects of Interactive Video Game Cycling on Obese Adolescent Health Completed NCT00983970 Phase 4
2 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:

41
Eye, Brain, Spinal Cord

Publications for Coloboma of Iris

Articles related to Coloboma of Iris:

(show top 50) (show all 55)
# Title Authors Year
1
Modified sewing machine technique for iridodialysis repair, intraocular lens relocation, iris coloboma repair, Cionni ring fixation, and scleral-fixated intraocular lens. ( 30038167 )
2018
2
Commentary: Modified sewing machine technique: An innovative method for the management of iridodialysis, iris coloboma, and scleral fixation of intraocular lenses. ( 30038168 )
2018
3
Evaluations of Corneas in Eyes with Isolated Iris Coloboma. ( 27266586 )
2017
4
Coexistence of optic pit and coloboma of iris, lens, and choroid: a case report. ( 27982214 )
2016
5
Iris coloboma in one eye and pigment dispersion syndrome in the fellow eye. ( 23704455 )
2013
6
Microphthalmia, late onset keratitis, and iris coloboma/aniridia in a family with a novel PAX6 mutation. ( 22171686 )
2012
7
Congenital ectropion uveae with iris coloboma and telecanthus. ( 21256075 )
2011
8
Interstitial deletion 5q14.3-q21 associated with iris coloboma, hearing loss, dental anomaly, moderate intellectual disability, and attention deficit and hyperactivity disorder. ( 19876902 )
2009
9
Iris coloboma, blepharophimosis, arachnodactyly, joint contractures: Beals syndrome and Van den Ende-Gupta syndrome phenotypic similarities. ( 19339880 )
2009
10
A new locus for congenital cataract, microcornea, microphthalmia, and atypical iris coloboma maps to chromosome 2. ( 19004499 )
2009
11
New phenotype associated with an Arg116Cys mutation in the CRYAA gene: nuclear cataract, iris coloboma, and microphthalmia. ( 17296897 )
2007
12
Modified flexible iris retractor to retract superior iris and support inferior capsule in eyes with iris coloboma and inferior zonular deficiency. ( 16765784 )
2006
13
Surgical technique for congenital iris coloboma repair. ( 17081895 )
2006
14
Congenital iris coloboma repair using a modified McCannel suture technique. ( 12719095 )
2003
15
Pulverulent cataract with variably associated microcornea and iris coloboma in a MAF mutation family. ( 12642301 )
2003
16
Noonan syndrome associated with unilateral iris coloboma and congenital chylothorax in an infant. ( 12868481 )
2003
17
An iris coloboma preventing pigmentary glaucoma. ( 12860819 )
2003
18
Familial cryptic translocation with deletion 4q33-->4qter and duplication 7q34-->7qter in brothers with mental retardation, macrocephaly and iris coloboma. ( 12514363 )
2003
19
Iris coloboma and a microdeletion of chromosome 22: del(22)(q11.22). ( 12386101 )
2002
20
Focal limbal stem cell deficiency corresponding to an iris coloboma. ( 12446396 )
2002
21
De novo ring chromosome 3 in a girl with hypoplastic thumb and coloboma of iris. ( 11491310 )
2001
22
Encephalocraniocutaneous lipomatosis associated with iris coloboma, chorioretinitis and spinal cord involvement: a case report. ( 11504608 )
2001
23
Hereditary optic pit and iris coloboma in three generations of a single family. ( 11421024 )
2001
24
Iris coloboma with iris heterochromia: a common association. ( 11074823 )
2000
25
High myopia, hypertelorism, iris coloboma, exomphalos, absent corpus callosum, and sensorineural deafness: report of a case and further evidence for autosomal recessive inheritance. ( 10794262 )
2000
26
Mental retardation, iris coloboma, optic atrophy and distinctive facial appearance in two sibs. ( 9689994 )
1998
27
Magnetic resonance imaging abnormalities of the brain in Goldberg-Shprintzen syndrome (Hirschsprung disease, microcephaly, and iris coloboma) ( 9409878 )
1997
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
Prenatal growth retardation associated with microcephaly, microphthalmos/iris coloboma and other congenital malformations in three siblings. ( 9383034 )
1997
30
Prenatal growth retardation, microphthalmos/iris coloboma, cloudy cornea, urogenital anomalies and microcephaly. A possible new sublethal syndrome. ( 9137880 )
1997
31
Simple iris coloboma in a Greek family. ( 8689492 )
1996
32
Unexpected familial recurrence of iris coloboma. A delayed mutation mechanism? ( 8556825 )
1995
33
Photoreceptor orientation in iris coloboma. ( 8152744 )
1994
34
Inferior congenital iris coloboma and IOL implantation. ( 8229733 )
1993
35
Iris coloboma, ptosis, hypertelorism, and mental retardation: Baraitser-Winter syndrome or Noonan syndrome? ( 8320709 )
1993
36
Callosal agenesis, iris coloboma, and megacolon in a Brazilian boy with Rubinstein-Taybi syndrome. ( 1415341 )
1992
37
Iris coloboma, ptosis, hypertelorism, and mental retardation: a new syndrome possibly localised on chromosome 2. ( 1865474 )
1991
38
Repair of iris coloboma by a closed chamber technique. ( 2102690 )
1990
39
Blepharophimosis, iris coloboma, microgenia, hearing loss, postaxial polydactyly, aplasia of corpus callosum, hydroureter, and developmental delay. ( 1694631 )
1990
40
Iris coloboma, ptosis, hypertelorism, and mental retardation. ( 2918534 )
1989
41
Iris coloboma, ptosis, hypertelorism, and mental retardation: a new syndrome. ( 3351890 )
1988
42
Unknown syndrome: Hirschsprung's disease, microcephaly, and iris coloboma: a new syndrome of defective neuronal migration. ( 3172144 )
1988
43
Corneal changes in familial iris coloboma. ( 3703500 )
1986
44
Corneal changes in familial iris coloboma. ( 3785900 )
1986
45
Repair of sector iris coloboma. Closed-chamber technique. ( 7039574 )
1982
46
Selective atrophy in the lateral geniculate nucleus associated with iris coloboma in cat. ( 860750 )
1977
47
Microcornea with high myopia, coloboma of iris and exophthalmos: report of a case. ( 13898627 )
1962
48
MICROCORNEA AND CONGENITAL COLOBOMA OF IRIS AND CHOROID IN ONE EYE WITH CONGENITAL GLAUCOMA AND CORNEAL OPACITY IN THE OTHER EYE. ( 18170686 )
1961
49
Congenital bilateral coloboma of iris and chorioid; a case report. ( 13104607 )
1953
50
Summarized Reports of Eight Cases of Coloboma of Iris and Choroid (Congenital). ( 19989749 )
1934

Variations for Coloboma of Iris

ClinVar genetic disease variations for Coloboma of Iris:

6 (show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 PRR12 NM_020719.2(PRR12): c.1918G> T (p.Glu640Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 19, 49596253: 49596253
2 PRR12 NM_020719.2(PRR12): c.1918G> T (p.Glu640Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 19, 50099510: 50099510
3 PRR12 NM_020719.2(PRR12): c.4502_4505delTGCC (p.Leu1501Argfs) deletion Pathogenic GRCh37 Chromosome 19, 50104904: 50104907
4 PRR12 NM_020719.2(PRR12): c.4502_4505delTGCC (p.Leu1501Argfs) deletion Pathogenic GRCh38 Chromosome 19, 49601647: 49601650
5 PRR12 NM_020719.2(PRR12): c.899_900insCCCACCA (p.Pro304Thrfs) insertion Pathogenic GRCh38 Chromosome 19, 49595234: 49595235
6 PRR12 NM_020719.2(PRR12): c.899_900insCCCACCA (p.Pro304Thrfs) insertion Pathogenic GRCh37 Chromosome 19, 50098491: 50098492
7 TMEM67 NM_153704.5(TMEM67): c.514C> T (p.Arg172Ter) single nucleotide variant Pathogenic/Likely pathogenic rs765468645 GRCh37 Chromosome 8, 94777641: 94777641
8 TMEM67 NM_153704.5(TMEM67): c.514C> T (p.Arg172Ter) single nucleotide variant Pathogenic/Likely pathogenic rs765468645 GRCh38 Chromosome 8, 93765413: 93765413
9 TFAP2A NM_003220.2(TFAP2A): c.1037_1038delAA (p.Lys346Argfs) deletion Pathogenic GRCh37 Chromosome 6, 10398926: 10398927
10 TFAP2A NM_003220.2(TFAP2A): c.1037_1038delAA (p.Lys346Argfs) deletion Pathogenic GRCh38 Chromosome 6, 10398693: 10398694
11 TMEM67 NM_001142301.1(TMEM67): c.2175_2180dup (p.Asn727_Leu728insMetAsn) duplication Likely pathogenic GRCh38 Chromosome 8, 93804857: 93804862
12 TMEM67 NM_001142301.1(TMEM67): c.2175_2180dup (p.Asn727_Leu728insMetAsn) duplication Likely pathogenic GRCh37 Chromosome 8, 94817085: 94817090

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 PAX6 TFAP2A

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 proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001077 8.96 PAX6 TFAP2A
2 transcription regulatory region DNA binding GO:0044212 8.62 PAX6 TFAP2A

Sources for Coloboma of Iris

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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