MCID: CLB026
MIFTS: 30

Colobomatous Microphthalmia

Categories: Eye diseases, Fetal diseases, Rare diseases, Neuronal diseases, Mental diseases

Aliases & Classifications for Colobomatous Microphthalmia

MalaCards integrated aliases for Colobomatous Microphthalmia:

Name: Colobomatous Microphthalmia 59 6
Microphthalmia-Anophthalmia-Coloboma Syndrome 59
Microphthalmia with Colobomatous Cyst 59
Microphthalmia and Mental Deficiency 73
Mac 59

Characteristics:

Orphanet epidemiological data:

59
colobomatous microphthalmia
Inheritance: Autosomal dominant,Autosomal recessive;

Classifications:



External Ids:

Orphanet 59 ORPHA98938
UMLS via Orphanet 74 C2931501
ICD10 via Orphanet 34 Q11.2
UMLS 73 C2931500

Summaries for Colobomatous Microphthalmia

MalaCards based summary : Colobomatous Microphthalmia, also known as microphthalmia-anophthalmia-coloboma syndrome, is related to microphthalmia, isolated, with coloboma 6 and microphthalmia. An important gene associated with Colobomatous Microphthalmia is C12orf57 (Chromosome 12 Open Reading Frame 57), and among its related pathways/superpathways are the visual cycle I (vertebrates) and Diseases associated with visual transduction. Affiliated tissues include eye and heart, and related phenotypes are mortality/aging and vision/eye

Related Diseases for Colobomatous Microphthalmia

Graphical network of the top 20 diseases related to Colobomatous Microphthalmia:



Diseases related to Colobomatous Microphthalmia

Symptoms & Phenotypes for Colobomatous Microphthalmia

MGI Mouse Phenotypes related to Colobomatous Microphthalmia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.61 ABCB6 C12orf57 GDF3 GDF6 MAB21L2 SHH
2 vision/eye MP:0005391 9.1 GDF6 MAB21L2 RBP4 SHH STRA6 VSX2

Drugs & Therapeutics for Colobomatous Microphthalmia

Search Clinical Trials , NIH Clinical Center for Colobomatous Microphthalmia

Genetic Tests for Colobomatous Microphthalmia

Anatomical Context for Colobomatous Microphthalmia

MalaCards organs/tissues related to Colobomatous Microphthalmia:

41
Eye, Heart

Publications for Colobomatous Microphthalmia

Articles related to Colobomatous Microphthalmia:

(show all 15)
# Title Authors Year
1
Confirmation of TENM3 involvement in autosomal recessive colobomatous microphthalmia. ( 27103084 )
2016
2
Identification of an HMGB3 Frameshift Mutation in a Family With an X-linked Colobomatous Microphthalmia Syndrome Using Whole-Genome and X-Exome Sequencing. ( 24993872 )
2014
3
Mutations in c12orf57 cause a syndromic form of colobomatous microphthalmia. ( 23453665 )
2013
4
Physical and transcript map of the autosomal dominant colobomatous microphthalmia locus on chromosome 15q12-q15 and refinement to a 4.4 Mb region. ( 15083168 )
2004
5
Novel mutation in sonic hedgehog in non-syndromic colobomatous microphthalmia. ( 12503095 )
2003
6
Colobomatous microphthalmia and orbital neuroglial cyst: case report. ( 11910557 )
2002
7
Genetic mapping of a novel X-linked recessive colobomatous microphthalmia. ( 11391653 )
2001
8
A locus for autosomal dominant colobomatous microphthalmia maps to chromosome 15q12-q15. ( 11035633 )
2000
9
Colobomatous microphthalmia, microcephaly with cerebellar hypoplasia: association or new syndrome? ( 10842296 )
2000
10
Microcephaly, colobomatous microphthalmia, short stature, and severe psychomotor retardation in two male cousins: a new MCA/MR syndrome? ( 10190477 )
1999
11
Colobomatous microphthalmia with midfacial clefting: part of the spectrum of branchio-oculo-facial syndrome? ( 8832722 )
1996
12
Autosomal recessive colobomatous microphthalmia. ( 8209881 )
1994
13
The prenatal development of the optic fissure in colobomatous microphthalmia. ( 1869414 )
1991
14
Complicated colobomatous microphthalmia in the microphthalmic (mi/mi) mouse. ( 3665767 )
1987
15
Colobomatous microphthalmia, heart disease, hearing loss, and mental retardation--a syndrome. ( 458518 )
1979

Variations for Colobomatous Microphthalmia

ClinVar genetic disease variations for Colobomatous Microphthalmia:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 C12orf57 NM_138425.3(C12orf57): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs587776954 GRCh37 Chromosome 12, 7053285: 7053285
2 C12orf57 NM_138425.3(C12orf57): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs587776954 GRCh38 Chromosome 12, 6944122: 6944122

Expression for Colobomatous Microphthalmia

Search GEO for disease gene expression data for Colobomatous Microphthalmia.

Pathways for Colobomatous Microphthalmia

Pathways related to Colobomatous Microphthalmia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.7 RBP4 STRA6
2
Show member pathways
9.9 RBP4 STRA6

GO Terms for Colobomatous Microphthalmia

Biological processes related to Colobomatous Microphthalmia according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.91 GDF3 GDF6 HMGB3 MAB21L2 SHH VSX2
2 heart development GO:0007507 9.71 RBP4 SHH STRA6
3 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.55 GDF3 GDF6
4 lung development GO:0030324 9.54 RBP4 SHH STRA6
5 skin development GO:0043588 9.52 ABCB6 SHH
6 cognition GO:0050890 9.51 C12orf57 STRA6
7 camera-type eye development GO:0043010 9.5 MAB21L2 SHH STRA6
8 embryonic skeletal system development GO:0048706 9.49 RBP4 SHH
9 developmental growth GO:0048589 9.48 SHH STRA6
10 camera-type eye morphogenesis GO:0048593 9.46 C12orf57 TENM3
11 cell development GO:0048468 9.43 GDF3 GDF6 SHH
12 digestive tract morphogenesis GO:0048546 9.4 SHH STRA6
13 formation of anatomical boundary GO:0048859 9.16 GDF3 SHH
14 eye development GO:0001654 9.13 GDF3 MAB21L2 RBP4
15 retinol transport GO:0034633 8.62 RBP4 STRA6

Molecular functions related to Colobomatous Microphthalmia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transforming growth factor beta receptor binding GO:0005160 9.26 GDF3 GDF6
2 retinol binding GO:0019841 9.16 RBP4 STRA6
3 retinal binding GO:0016918 8.96 RBP4 STRA6
4 retinol transmembrane transporter activity GO:0034632 8.62 RBP4 STRA6

Sources for Colobomatous Microphthalmia

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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