MCID: CLB026
MIFTS: 34

Colobomatous Microphthalmia

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

Aliases & Classifications for Colobomatous Microphthalmia

MalaCards integrated aliases for Colobomatous Microphthalmia:

Name: Colobomatous Microphthalmia 60 6
Microphthalmia-Anophthalmia-Coloboma Syndrome 60
Microphthalmia with Colobomatous Cyst 60
Microphthalmia and Mental Deficiency 74
Mac 60

Characteristics:

Orphanet epidemiological data:

60
colobomatous microphthalmia
Inheritance: Autosomal dominant,Autosomal recessive;

Classifications:



External Ids:

ICD10 via Orphanet 35 Q11.2
UMLS via Orphanet 75 C2931501
Orphanet 60 ORPHA98938
UMLS 74 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 temtamy syndrome. An important gene associated with Colobomatous Microphthalmia is C12orf57 (Chromosome 12 Open Reading Frame 57). Affiliated tissues include lung, heart and eye, and related phenotypes are mortality/aging and pigmentation

Related Diseases for Colobomatous Microphthalmia

Diseases related to Colobomatous Microphthalmia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 136)
# Related Disease Score Top Affiliating Genes
1 microphthalmia, isolated, with coloboma 6 31.6 GDF3 GDF6
2 temtamy syndrome 30.4 C12orf57 RNU7-1
3 microphthalmia 27.7 ABCB6 C12orf57 GDF3 GDF6 HMGB3 MAB21L2
4 coloboma of macula 26.9 ABCB6 C12orf57 GDF3 GDF6 MAB21L2 RBP4
5 macs syndrome 12.6
6 microphthalmia, syndromic 13 12.3
7 microphthalmia/coloboma and skeletal dysplasia syndrome 11.9
8 microphthalmia, isolated, with coloboma 4 11.8
9 mycobacterium avium complex infections 11.7
10 microphthalmia, isolated, with coloboma 5 11.6
11 microphthalmia, isolated, with coloboma 9 11.6
12 hypocomplementemic urticarial vasculitis 11.4
13 microphthalmia, syndromic 9 11.3
14 coloboma-obesity-hypogenitalism-mental retardation syndrome 11.3
15 microphthalmia, isolated, with coloboma 3 11.3
16 microphthalmia, isolated, with coloboma 7 11.3
17 macdermot-winter syndrome 11.1
18 microcephaly 10.3
19 human immunodeficiency virus type 1 10.3
20 pituitary stalk interruption syndrome 10.2
21 legionnaires' disease 10.1
22 branchiooculofacial syndrome 10.1
23 chromosome 2q35 duplication syndrome 10.1
24 cerebellar hypoplasia 10.1
25 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
26 ptosis 10.1
27 heart disease 10.1
28 kidney disease 10.1
29 lung disease 10.1
30 spondylolisthesis 10.1
31 blood group, gerbich system 10.1
32 malignant syringoma 10.1
33 polymyositis 10.1
34 yellow fever 10.0
35 alcohol dependence 9.9
36 hemifacial microsomia with radial defects 9.9
37 treacher collins syndrome 1 9.9
38 hemifacial microsomia 9.9
39 small cell cancer of the lung 9.9
40 lung cancer 9.9
41 asplenia, isolated congenital 9.9
42 fryns microphthalmia syndrome 9.9
43 nasopharyngeal carcinoma 9.9
44 myocardial infarction 9.9
45 blood group, junior system 9.9
46 acute myocardial infarction 9.9
47 alopecia 9.9
48 cerebral palsy 9.9
49 glomerulonephritis 9.9
50 chlamydia pneumonia 9.9

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:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.85 ABCB6 C12orf57 FAT1 GDF3 GDF6 MAB21L2
2 pigmentation MP:0001186 9.26 FAT1 MAB21L2 STRA6 VSX2
3 vision/eye MP:0005391 9.17 FAT1 GDF6 MAB21L2 RBP4 SHH STRA6

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:

42
Lung, Heart, Eye, Kidney, Pituitary, T Cells, Appendix

Publications for Colobomatous Microphthalmia

Articles related to Colobomatous Microphthalmia:

(show all 16)
# Title Authors Year
1
Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly. ( 30862798 )
2019
2
Confirmation of TENM3 involvement in autosomal recessive colobomatous microphthalmia. ( 27103084 )
2016
3
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
4
Mutations in c12orf57 cause a syndromic form of colobomatous microphthalmia. ( 23453665 )
2013
5
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
6
Novel mutation in sonic hedgehog in non-syndromic colobomatous microphthalmia. ( 12503095 )
2003
7
Colobomatous microphthalmia and orbital neuroglial cyst: case report. ( 11910557 )
2002
8
Genetic mapping of a novel X-linked recessive colobomatous microphthalmia. ( 11391653 )
2001
9
Colobomatous microphthalmia, microcephaly with cerebellar hypoplasia: association or new syndrome? ( 10842296 )
2000
10
A locus for autosomal dominant colobomatous microphthalmia maps to chromosome 15q12-q15. ( 11035633 )
2000
11
Microcephaly, colobomatous microphthalmia, short stature, and severe psychomotor retardation in two male cousins: a new MCA/MR syndrome? ( 10190477 )
1999
12
Colobomatous microphthalmia with midfacial clefting: part of the spectrum of branchio-oculo-facial syndrome? ( 8832722 )
1996
13
Autosomal recessive colobomatous microphthalmia. ( 8209881 )
1994
14
The prenatal development of the optic fissure in colobomatous microphthalmia. ( 1869414 )
1991
15
Complicated colobomatous microphthalmia in the microphthalmic (mi/mi) mouse. ( 3665767 )
1987
16
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

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 lung development GO:0030324 9.58 RBP4 SHH STRA6
4 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.55 GDF3 GDF6
5 camera-type eye development GO:0043010 9.54 MAB21L2 SHH STRA6
6 cognition GO:0050890 9.52 C12orf57 STRA6
7 skin development GO:0043588 9.51 ABCB6 SHH
8 cell development GO:0048468 9.5 GDF3 GDF6 SHH
9 embryonic skeletal system development GO:0048706 9.49 RBP4 SHH
10 developmental growth GO:0048589 9.48 SHH STRA6
11 digestive tract morphogenesis GO:0048546 9.46 SHH STRA6
12 eye development GO:0001654 9.33 GDF3 MAB21L2 RBP4
13 formation of anatomical boundary GO:0048859 9.26 GDF3 SHH
14 retinol transport GO:0034633 8.96 RBP4 STRA6
15 camera-type eye morphogenesis GO:0048593 8.8 C12orf57 FAT1 TENM3

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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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