MCID: MCR349
MIFTS: 19

Microphthalmia, Isolated, with Coloboma 3

Categories: Genetic diseases

Aliases & Classifications for Microphthalmia, Isolated, with Coloboma 3

MalaCards integrated aliases for Microphthalmia, Isolated, with Coloboma 3:

Name: Microphthalmia, Isolated, with Coloboma 3 57 29 6 73
Microphthalmia, Cataracts, and Iris Abnormalities 29 6
Microphthalmia with Coloboma 3 57 13
Mcopcb3 57 75
Microphthalmia with Cataracts and Iris Abnormalities 75
Microphthalmia, Isolated, with Coloboma, Type 3 40
Microphthalmia, Isolated, with Coloboma, 3 75
Microphthalmia, Colobomatous, Isolated 3 57
Isolated Colobomatous Microphthalmia 3 75
Mcopcti 75

Characteristics:

HPO:

32
microphthalmia, isolated, with coloboma 3:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Microphthalmia, Isolated, with Coloboma 3

UniProtKB/Swiss-Prot : 75 Microphthalmia with cataracts and iris abnormalities: A disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, cataract and other abnormalities like cataract may also be present. Microphthalmia, isolated, with coloboma, 3: A disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities may also be present. Ocular colobomas are a set of malformations resulting from abnormal morphogenesis of the optic cup and stalk, and the fusion of the fetal fissure (optic fissure).

MalaCards based summary : Microphthalmia, Isolated, with Coloboma 3, is also known as microphthalmia, cataracts, and iris abnormalities. An important gene associated with Microphthalmia, Isolated, with Coloboma 3 is VSX2 (Visual System Homeobox 2). Affiliated tissues include retina and eye, and related phenotypes are cataract and microphthalmia

Description from OMIM: 610092

Related Diseases for Microphthalmia, Isolated, with Coloboma 3

Symptoms & Phenotypes for Microphthalmia, Isolated, with Coloboma 3

Clinical features from OMIM:

610092

Human phenotypes related to Microphthalmia, Isolated, with Coloboma 3:

32
# Description HPO Frequency HPO Source Accession
1 cataract 32 HP:0000518
2 microphthalmia 32 HP:0000568
3 coloboma 32 HP:0000589

Drugs & Therapeutics for Microphthalmia, Isolated, with Coloboma 3

Search Clinical Trials , NIH Clinical Center for Microphthalmia, Isolated, with Coloboma 3

Genetic Tests for Microphthalmia, Isolated, with Coloboma 3

Genetic tests related to Microphthalmia, Isolated, with Coloboma 3:

# Genetic test Affiliating Genes
1 Microphthalmia, Isolated, with Coloboma 3 29 VSX2
2 Microphthalmia, Cataracts, and Iris Abnormalities 29

Anatomical Context for Microphthalmia, Isolated, with Coloboma 3

MalaCards organs/tissues related to Microphthalmia, Isolated, with Coloboma 3:

41
Retina, Eye

Publications for Microphthalmia, Isolated, with Coloboma 3

Variations for Microphthalmia, Isolated, with Coloboma 3

UniProtKB/Swiss-Prot genetic disease variations for Microphthalmia, Isolated, with Coloboma 3:

75
# Symbol AA change Variation ID SNP ID
1 VSX2 p.Arg200Pro VAR_011618 rs121912543
2 VSX2 p.Arg200Gln VAR_011619 rs121912543
3 VSX2 p.Gly223Arg VAR_075633 rs755799430

ClinVar genetic disease variations for Microphthalmia, Isolated, with Coloboma 3:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 VSX2 NM_182894.2(VSX2): c.599G> A (p.Arg200Gln) single nucleotide variant Pathogenic rs121912543 GRCh37 Chromosome 14, 74726324: 74726324
2 VSX2 NM_182894.2(VSX2): c.599G> A (p.Arg200Gln) single nucleotide variant Pathogenic rs121912543 GRCh38 Chromosome 14, 74259621: 74259621
3 VSX2 NM_182894.2(VSX2): c.599G> C (p.Arg200Pro) single nucleotide variant Pathogenic rs121912543 GRCh37 Chromosome 14, 74726324: 74726324
4 VSX2 NM_182894.2(VSX2): c.599G> C (p.Arg200Pro) single nucleotide variant Pathogenic rs121912543 GRCh38 Chromosome 14, 74259621: 74259621
5 VSX2 CHX10, IVS1, G-A, -1 single nucleotide variant Pathogenic

Expression for Microphthalmia, Isolated, with Coloboma 3

Search GEO for disease gene expression data for Microphthalmia, Isolated, with Coloboma 3.

Pathways for Microphthalmia, Isolated, with Coloboma 3

GO Terms for Microphthalmia, Isolated, with Coloboma 3

Sources for Microphthalmia, Isolated, with Coloboma 3

3 CDC
7 CNVD
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10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
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49 NCI
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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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