MCID: CLB009
MIFTS: 26

Coloboma of Iris

Categories: Rare diseases, Eye 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 TFAP2A (Transcription Factor AP-2 Alpha), and among its related pathways/superpathways is Ectoderm Differentiation. Affiliated tissues include eye, endothelial and brain, and related phenotypes are craniofacial and digestive/alimentary

Related Diseases for Coloboma of Iris

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, Endothelial, Brain, Spinal Cord

Publications for Coloboma of Iris

Articles related to Coloboma of Iris:

(show top 50) (show all 53)
# Title Authors Year
1
Coexistence of optic pit and coloboma of iris, lens, and choroid: a case report. ( 27982214 )
2016
2
Congenital hereditary endothelial dystrophy, not glaucoma, in a child with iris colobomas. ( 27373217 )
2016
3
Iris coloboma in one eye and pigment dispersion syndrome in the fellow eye. ( 23704455 )
2013
4
Microphthalmia, late onset keratitis, and iris coloboma/aniridia in a family with a novel PAX6 mutation. ( 22171686 )
2012
5
Congenital ectropion uveae with iris coloboma and telecanthus. ( 21256075 )
2011
6
Interstitial deletion 5q14.3-q21 associated with iris coloboma, hearing loss, dental anomaly, moderate intellectual disability, and attention deficit and hyperactivity disorder. ( 19876902 )
2009
7
Iris coloboma, blepharophimosis, arachnodactyly, joint contractures: Beals syndrome and Van den Ende-Gupta syndrome phenotypic similarities. ( 19339880 )
2009
8
A new locus for congenital cataract, microcornea, microphthalmia, and atypical iris coloboma maps to chromosome 2. ( 19004499 )
2009
9
New phenotype associated with an Arg116Cys mutation in the CRYAA gene: nuclear cataract, iris coloboma, and microphthalmia. ( 17296897 )
2007
10
Modified flexible iris retractor to retract superior iris and support inferior capsule in eyes with iris coloboma and inferior zonular deficiency. ( 16765784 )
2006
11
Surgical technique for congenital iris coloboma repair. ( 17081895 )
2006
12
Congenital iris coloboma repair using a modified McCannel suture technique. ( 12719095 )
2003
13
Pulverulent cataract with variably associated microcornea and iris coloboma in a MAF mutation family. ( 12642301 )
2003
14
Noonan syndrome associated with unilateral iris coloboma and congenital chylothorax in an infant. ( 12868481 )
2003
15
An iris coloboma preventing pigmentary glaucoma. ( 12860819 )
2003
16
Familial cryptic translocation with deletion 4q33-->4qter and duplication 7q34-->7qter in brothers with mental retardation, macrocephaly and iris coloboma. ( 12514363 )
2003
17
Iris coloboma and a microdeletion of chromosome 22: del(22)(q11.22). ( 12386101 )
2002
18
Focal limbal stem cell deficiency corresponding to an iris coloboma. ( 12446396 )
2002
19
De novo ring chromosome 3 in a girl with hypoplastic thumb and coloboma of iris. ( 11491310 )
2001
20
Encephalocraniocutaneous lipomatosis associated with iris coloboma, chorioretinitis and spinal cord involvement: a case report. ( 11504608 )
2001
21
Hereditary optic pit and iris coloboma in three generations of a single family. ( 11421024 )
2001
22
Iris coloboma with iris heterochromia: a common association. ( 11074823 )
2000
23
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
24
Mental retardation, iris coloboma, optic atrophy and distinctive facial appearance in two sibs. ( 9689994 )
1998
25
Magnetic resonance imaging abnormalities of the brain in Goldberg-Shprintzen syndrome (Hirschsprung disease, microcephaly, and iris coloboma) ( 9409878 )
1997
26
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
27
Prenatal growth retardation associated with microcephaly, microphthalmos/iris coloboma and other congenital malformations in three siblings. ( 9383034 )
1997
28
Prenatal growth retardation, microphthalmos/iris coloboma, cloudy cornea, urogenital anomalies and microcephaly. A possible new sublethal syndrome. ( 9137880 )
1997
29
Simple iris coloboma in a Greek family. ( 8689492 )
1996
30
Unexpected familial recurrence of iris coloboma. A delayed mutation mechanism? ( 8556825 )
1995
31
Photoreceptor orientation in iris coloboma. ( 8152744 )
1994
32
Inferior congenital iris coloboma and IOL implantation. ( 8229733 )
1993
33
Iris coloboma, ptosis, hypertelorism, and mental retardation: Baraitser-Winter syndrome or Noonan syndrome? ( 8320709 )
1993
34
Callosal agenesis, iris coloboma, and megacolon in a Brazilian boy with Rubinstein-Taybi syndrome. ( 1415341 )
1992
35
Iris coloboma, ptosis, hypertelorism, and mental retardation: a new syndrome possibly localised on chromosome 2. ( 1865474 )
1991
36
Repair of iris coloboma by a closed chamber technique. ( 2102690 )
1990
37
Blepharophimosis, iris coloboma, microgenia, hearing loss, postaxial polydactyly, aplasia of corpus callosum, hydroureter, and developmental delay. ( 1694631 )
1990
38
Iris coloboma, ptosis, hypertelorism, and mental retardation. ( 2918534 )
1989
39
Iris coloboma, ptosis, hypertelorism, and mental retardation: a new syndrome. ( 3351890 )
1988
40
Unknown syndrome: Hirschsprung's disease, microcephaly, and iris coloboma: a new syndrome of defective neuronal migration. ( 3172144 )
1988
41
Corneal changes in familial iris coloboma. ( 3703500 )
1986
42
Corneal changes in familial iris coloboma. ( 3785900 )
1986
43
Repair of sector iris coloboma. Closed-chamber technique. ( 7039574 )
1982
44
Selective atrophy in the lateral geniculate nucleus associated with iris coloboma in cat. ( 860750 )
1977
45
Microcornea with high myopia, coloboma of iris and exophthalmos: report of a case. ( 13898627 )
1962
46
MICROCORNEA AND CONGENITAL COLOBOMA OF IRIS AND CHOROID IN ONE EYE WITH CONGENITAL GLAUCOMA AND CORNEAL OPACITY IN THE OTHER EYE. ( 18170686 )
1961
47
Congenital bilateral coloboma of iris and chorioid; a case report. ( 13104607 )
1953
48
Summarized Reports of Eight Cases of Coloboma of Iris and Choroid (Congenital). ( 19989749 )
1934
49
Pseudo-Coloboma of Iris. ( 19987872 )
1930
50
Case of Congenital Morbus Cordis associated with Coloboma of Iris and Choroid. ( 19982581 )
1922

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 transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding GO:0001077 9.16 PAX6 TFAP2A
2 transcription regulatory region DNA binding GO:0044212 8.96 PAX6 TFAP2A
3 RNA polymerase II core promoter sequence-specific DNA binding GO:0000979 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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