MCOP1
MCID: MCR124
MIFTS: 37

Microphthalmia, Isolated 1 (MCOP1)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Microphthalmia, Isolated 1

MalaCards integrated aliases for Microphthalmia, Isolated 1:

Name: Microphthalmia, Isolated 1 58 13 74
Isolated Microphthalmia 1 12 15
Mcop1 58 12
Microphthalmos, Autosomal Recessive 58
Anophthalmia, Clinical, Isolated 58
Mcop 58

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive
also dominant forms


HPO:

33
microphthalmia, isolated 1:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060840
OMIM 58 251600
ICD10 34 Q11.0
MedGen 43 C1855052
UMLS 74 C1855052

Summaries for Microphthalmia, Isolated 1

OMIM : 58 Microphthalmia designates a heterogeneous group of ocular malformations with a more or less evident reduction in the size of the eyeball. Additional features include high hypermetropia and a short axial length. The size of the anterior chamber and the cornea may also be reduced, whereas the lens is normal or thicker than usual for age (summary by Fuchs et al., 2005). (251600)

MalaCards based summary : Microphthalmia, Isolated 1, also known as isolated microphthalmia 1, is related to microphthalmia, isolated 6 and microphthalmia, isolated 2. An important gene associated with Microphthalmia, Isolated 1 is MCOP1 (Microphthalmia, Autosomal Recessive), and among its related pathways/superpathways are Integrated Breast Cancer Pathway and Regulation of Wnt-mediated beta catenin signaling and target gene transcription. Affiliated tissues include eye and kidney, and related phenotypes are microphthalmia and glaucoma

Disease Ontology : 12 A microphthalmia that has material basis in variation in the chromosomal region 14q32.

Related Diseases for Microphthalmia, Isolated 1

Graphical network of the top 20 diseases related to Microphthalmia, Isolated 1:



Diseases related to Microphthalmia, Isolated 1

Symptoms & Phenotypes for Microphthalmia, Isolated 1

Human phenotypes related to Microphthalmia, Isolated 1:

33
# Description HPO Frequency HPO Source Accession
1 microphthalmia 33 HP:0000568
2 glaucoma 33 HP:0000501
3 anophthalmia 33 HP:0000528
4 high hypermetropia 33 HP:0008499

Symptoms via clinical synopsis from OMIM:

58
H E E N T:
glaucoma
microphthalmos
nanophthalmos
high-grade hyperopia
anophthalmos

Clinical features from OMIM:

251600

MGI Mouse Phenotypes related to Microphthalmia, Isolated 1:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.9 CHRNG ETV1 ETV4 FOXO1 JUN KEAP1
2 embryo MP:0005380 9.87 CHRNG ETV4 FOXO1 JUN MITF SFN
3 integument MP:0010771 9.86 CHRNG ETV4 FOXO1 JUN KEAP1 MITF
4 no phenotypic analysis MP:0003012 9.43 ETV4 FOXO1 JUN MITF SOX2 VSX2
5 vision/eye MP:0005391 9.17 JUN MITF MTA1 PDE6D SFN SOX2

Drugs & Therapeutics for Microphthalmia, Isolated 1

Search Clinical Trials , NIH Clinical Center for Microphthalmia, Isolated 1

Genetic Tests for Microphthalmia, Isolated 1

Anatomical Context for Microphthalmia, Isolated 1

MalaCards organs/tissues related to Microphthalmia, Isolated 1:

42
Eye, Kidney

Publications for Microphthalmia, Isolated 1

Variations for Microphthalmia, Isolated 1

Expression for Microphthalmia, Isolated 1

Search GEO for disease gene expression data for Microphthalmia, Isolated 1.

Pathways for Microphthalmia, Isolated 1

GO Terms for Microphthalmia, Isolated 1

Cellular components related to Microphthalmia, Isolated 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 acetylcholine-gated channel complex GO:0005892 8.62 CHRND CHRNG

Biological processes related to Microphthalmia, Isolated 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription by RNA polymerase II GO:0000122 9.88 FOXO1 JUN MITF MTA1 SOX2
2 positive regulation of transcription by RNA polymerase II GO:0045944 9.85 ETV1 ETV4 FOXO1 JUN MITF SOX2
3 positive regulation of transcription, DNA-templated GO:0045893 9.72 ETV1 FOXO1 JUN MITF SOX2
4 synaptic transmission, cholinergic GO:0007271 9.46 CHRND CHRNG
5 neuronal stem cell population maintenance GO:0097150 9.43 FOXO1 SOX2
6 release of cytochrome c from mitochondria GO:0001836 9.4 JUN SFN
7 regulation of transcription, DNA-templated GO:0006355 9.28 ETV1 ETV4 FOXO1 JUN KEAP1 MITF
8 transcription by RNA polymerase II GO:0006366 9.26 ETV1 JUN
9 visual perception GO:0007601 9.26 CRYBA4 CRYBB1 PDE6D VSX2
10 positive regulation of DNA-templated transcription, initiation GO:2000144 9.16 JUN MITF

Molecular functions related to Microphthalmia, Isolated 1 according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.92 ETV1 ETV4 FOXO1 JUN MITF MTA1
2 chromatin binding GO:0003682 9.78 FOXO1 JUN MITF MTA1
3 DNA-binding transcription factor activity GO:0003700 9.73 ETV1 ETV4 FOXO1 JUN MITF SOX2
4 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.56 ETV1 ETV4 FOXO1 JUN MITF MTA1
5 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.55 ETV1 ETV4 JUN MITF MTA1
6 structural constituent of eye lens GO:0005212 9.46 CRYBA4 CRYBB1
7 acetylcholine binding GO:0042166 9.43 CHRND CHRNG
8 acetylcholine-gated cation-selective channel activity GO:0022848 9.4 CHRND CHRNG
9 acetylcholine receptor activity GO:0015464 9.37 CHRND CHRNG
10 sequence-specific DNA binding GO:0043565 9.17 ETV1 ETV4 FOXO1 JUN MTA1 SOX2
11 protein binding GO:0005515 10.34 CHRNG CRYBA4 CRYBB1 ETV1 ETV4 FOXO1

Sources for Microphthalmia, Isolated 1

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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