MCID: MCR273
MIFTS: 17

Microphthalmia/anophthalmia/coloboma Spectrum

Aliases & Classifications for Microphthalmia/anophthalmia/coloboma Spectrum

MalaCards integrated aliases for Microphthalmia/anophthalmia/coloboma Spectrum:

Name: Microphthalmia/anophthalmia/coloboma Spectrum 24

Summaries for Microphthalmia/anophthalmia/coloboma Spectrum

MalaCards based summary : Microphthalmia/anophthalmia/coloboma Spectrum is related to coloboma of macula and microphthalmia. An important gene associated with Microphthalmia/anophthalmia/coloboma Spectrum is BCOR (BCL6 Corepressor), and among its related pathways/superpathways is Ectoderm Differentiation. Affiliated tissues include eye, and related phenotype is embryo.

GeneReviews: NBK1378

Related Diseases for Microphthalmia/anophthalmia/coloboma Spectrum

Graphical network of the top 20 diseases related to Microphthalmia/anophthalmia/coloboma Spectrum:



Diseases related to Microphthalmia/anophthalmia/coloboma Spectrum

Symptoms & Phenotypes for Microphthalmia/anophthalmia/coloboma Spectrum

MGI Mouse Phenotypes related to Microphthalmia/anophthalmia/coloboma Spectrum:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 8.92 BCOR BMP4 CHD7 COX7B

Drugs & Therapeutics for Microphthalmia/anophthalmia/coloboma Spectrum

Search Clinical Trials , NIH Clinical Center for Microphthalmia/anophthalmia/coloboma Spectrum

Genetic Tests for Microphthalmia/anophthalmia/coloboma Spectrum

Anatomical Context for Microphthalmia/anophthalmia/coloboma Spectrum

MalaCards organs/tissues related to Microphthalmia/anophthalmia/coloboma Spectrum:

41
Eye

Publications for Microphthalmia/anophthalmia/coloboma Spectrum

Articles related to Microphthalmia/anophthalmia/coloboma Spectrum:

(show all 19)
# Title Authors PMID Year
1
Novel mutations in PXDN cause microphthalmia and anterior segment dysgenesis. 4
24939590 2015
2
Functional analysis of FOXE3 mutations causing dominant and recessive ocular anterior segment disease. 4
25504734 2015
3
Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia. 4
24033328 2014
4
The genetic architecture of microphthalmia, anophthalmia and coloboma. 4
24859618 2014
5
Prenatal diagnosis of bilateral anophthalmia by 3D "reverse face" view ultrasound and magnetic resonance imaging. 4
23276567 2012
6
Targeted 'next-generation' sequencing in anophthalmia and microphthalmia patients confirms SOX2, OTX2 and FOXE3 mutations. 4
22204637 2011
7
Eye development genes and known syndromes. 4
22005280 2011
8
Homozygous mutations in PXDN cause congenital cataract, corneal opacity, and developmental glaucoma. 4
21907015 2011
9
OTX2 microphthalmia syndrome: four novel mutations and delineation of a phenotype. 4
20486942 2011
10
Ocular anomalies in incontinentia pigmenti: literature review and meta-analysis. 4
20842883 2010
11
Examination of SOX2 in variable ocular conditions identifies a recurrent deletion in microphthalmia and lack of mutations in other phenotypes. 4
20454695 2010
12
Antenatal diagnosis of anophthalmia by three-dimensional ultrasound: a novel application of the reverse face view. 4
18570241 2008
13
Anophthalmia and microphthalmia. 4
18039390 2007
14
Early sonographic detection of recurrent fetal eye anomalies. 4
15517557 2004
15
Prenatal diagnosis of otocephaly with microphthalmia/anophthalmia using ultrasound and magnetic resonance imaging. 4
12905522 2003
16
Three dimensional ultrasound: abnormalities of the fetal face in surface and volume rendering mode. 4
7612513 1995
17
Simple microphthalmos. 4
2818284 1989
18
Refractive development of the human eye. 4
4004614 1985
19
Microphthalmia/Anophthalmia/Coloboma Spectrum 38
20301552 2004

Variations for Microphthalmia/anophthalmia/coloboma Spectrum

Expression for Microphthalmia/anophthalmia/coloboma Spectrum

Search GEO for disease gene expression data for Microphthalmia/anophthalmia/coloboma Spectrum.

Pathways for Microphthalmia/anophthalmia/coloboma Spectrum

Pathways related to Microphthalmia/anophthalmia/coloboma Spectrum according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.78 BMP4 BCOR

GO Terms for Microphthalmia/anophthalmia/coloboma Spectrum

Biological processes related to Microphthalmia/anophthalmia/coloboma Spectrum according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription, DNA-templated GO:0045892 9.63 DACH1 BMP4 BCOR
2 skeletal system development GO:0001501 9.49 CHD7 BMP4
3 central nervous system development GO:0007417 9.48 COX7B CHD7
4 roof of mouth development GO:0060021 9.43 CHD7 BCOR
5 positive regulation of epithelial cell proliferation GO:0050679 9.4 FOXE3 BMP4
6 cell development GO:0048468 9.37 FOXE3 BMP4
7 blood vessel development GO:0001568 9.32 CHD7 BMP4
8 odontogenesis GO:0042476 9.26 BMP4 BCOR
9 embryonic hindlimb morphogenesis GO:0035116 9.16 CHD7 BMP4
10 epithelium development GO:0060429 8.96 CHD7 BMP4
11 camera-type eye development GO:0043010 8.92 FOXE3 CRYBA4 CHD7 BMP4

Sources for Microphthalmia/anophthalmia/coloboma Spectrum

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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