MCID: MCR124
MIFTS: 36

Microphthalmia, Isolated 1

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

Aliases & Classifications for Microphthalmia, Isolated 1

MalaCards integrated aliases for Microphthalmia, Isolated 1:

Name: Microphthalmia, Isolated 1 57 13 73
Isolated Microphthalmia 1 12 15
Mcop1 57 12
Microphthalmos, Autosomal Recessive 57
Anophthalmia, Clinical, Isolated 57
Mcop 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive
also dominant forms


HPO:

32
microphthalmia, isolated 1:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 251600
Disease Ontology 12 DOID:0060840
ICD10 33 Q11.0
MedGen 42 C1855052
UMLS 73 C1855052

Summaries for Microphthalmia, Isolated 1

OMIM : 57 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 2 and cataract microcornea syndrome. 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 IL6-mediated signaling events. Affiliated tissues include eye, and related phenotypes are glaucoma and anophthalmia

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

Symptoms via clinical synopsis from OMIM:

57
HEENT:
microphthalmos
anophthalmos
nanophthalmos
high-grade hyperopia
glaucoma


Clinical features from OMIM:

251600

Human phenotypes related to Microphthalmia, Isolated 1:

32
# Description HPO Frequency HPO Source Accession
1 glaucoma 32 HP:0000501
2 anophthalmia 32 HP:0000528
3 microphthalmia 32 HP:0000568
4 high hypermetropia 32 HP:0008499

MGI Mouse Phenotypes related to Microphthalmia, Isolated 1:

46
# 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 ETV4 FOXO1 JUN MITF SFN SOX2
3 integument MP:0010771 9.86 CHRNG ETV4 FOXO1 JUN KEAP1 MITF
4 pigmentation MP:0001186 9.35 CHRNG MFRP MITF SOX2 VSX2
5 vision/eye MP:0005391 9.23 SFN SOX2 VSX2 JUN MFRP MITF

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:

41
Eye

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 regulation of transcription, DNA-templated GO:0006355 9.91 ETV1 ETV4 FOXO1 JUN KEAP1 MITF
2 positive regulation of transcription by RNA polymerase II GO:0045944 9.88 ETV1 ETV4 FOXO1 JUN MITF SOX2
3 transcription, DNA-templated GO:0006351 9.81 ETV1 ETV4 FOXO1 JUN KEAP1 MITF
4 transcription by RNA polymerase II GO:0006366 9.77 ETV1 ETV4 JUN MITF SOX2
5 positive regulation of transcription, DNA-templated GO:0045893 9.72 ETV1 FOXO1 JUN MITF SOX2
6 release of cytochrome c from mitochondria GO:0001836 9.46 JUN SFN
7 neuronal stem cell population maintenance GO:0097150 9.43 FOXO1 SOX2
8 visual perception GO:0007601 9.02 CRYBA4 CRYBB1 MFRP PDE6D VSX2
9 positive regulation of DNA-templated transcription, initiation GO:2000144 8.96 JUN MITF

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

# Name GO ID Score Top Affiliating Genes
1 DNA binding transcription factor activity GO:0003700 9.8 ETV1 ETV4 FOXO1 JUN MITF MTA1
2 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.78 ETV1 ETV4 JUN MITF
3 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0000981 9.76 ETV1 ETV4 FOXO1 JUN MITF MTA1
4 structural constituent of eye lens GO:0005212 9.46 CRYBA4 CRYBB1
5 acetylcholine binding GO:0042166 9.4 CHRND CHRNG
6 acetylcholine-gated cation-selective channel activity GO:0022848 9.37 CHRND CHRNG
7 transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding GO:0001077 9.35 ETV1 ETV4 JUN MITF SOX2
8 acetylcholine receptor activity GO:0015464 9.32 CHRND CHRNG
9 sequence-specific DNA binding GO:0043565 9.17 ETV1 ETV4 FOXO1 JUN MTA1 SOX2
10 DNA binding GO:0003677 10.03 ETV1 ETV4 FOXO1 JUN MITF MTA1

Sources for Microphthalmia, Isolated 1

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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