MCID: MCR137
MIFTS: 22

Microphthalmia, Isolated 2

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

Aliases & Classifications for Microphthalmia, Isolated 2

MalaCards integrated aliases for Microphthalmia, Isolated 2:

Name: Microphthalmia, Isolated 2 57 29 13 6 73
Mcop2 57 12 75
Anophthalmia, Clinical, Isolated 57
Microphthalmia, Isolated, Type 2 40
Isolated Clinical Anophthalmia 75
Microphthalmia, Isolated, 2 75
Isolated Microphthalmia 2 12
Anophthalmos 44

Characteristics:

HPO:

32
microphthalmia, isolated 2:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 610093
Disease Ontology 12 DOID:0060839
ICD10 33 Q11.0
MedGen 42 C1864720
SNOMED-CT via HPO 69 258211005 204108000 61142002
UMLS 73 C1864720

Summaries for Microphthalmia, Isolated 2

UniProtKB/Swiss-Prot : 75 Microphthalmia, isolated, 2: 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.

MalaCards based summary : Microphthalmia, Isolated 2, also known as mcop2, is related to anophthalmos with limb anomalies and microphthalmia, syndromic 1. An important gene associated with Microphthalmia, Isolated 2 is VSX2 (Visual System Homeobox 2). Affiliated tissues include eye and retina, and related phenotype is microphthalmia.

Disease Ontology : 12 A microphthalmia characterized by autosomal recessive inheritance of bilateral profound microphthalmia without associated anomalies and with normal intelligence that has material basis in homozygous mutation in the CHX10 gene on chromosome 14q24.

Description from OMIM: 610093

Related Diseases for Microphthalmia, Isolated 2

Graphical network of the top 20 diseases related to Microphthalmia, Isolated 2:



Diseases related to Microphthalmia, Isolated 2

Symptoms & Phenotypes for Microphthalmia, Isolated 2

Clinical features from OMIM:

610093

Human phenotypes related to Microphthalmia, Isolated 2:

32
# Description HPO Frequency HPO Source Accession
1 microphthalmia 32 HP:0000568

Drugs & Therapeutics for Microphthalmia, Isolated 2

Search Clinical Trials , NIH Clinical Center for Microphthalmia, Isolated 2

Cochrane evidence based reviews: anophthalmos

Genetic Tests for Microphthalmia, Isolated 2

Genetic tests related to Microphthalmia, Isolated 2:

# Genetic test Affiliating Genes
1 Microphthalmia, Isolated 2 29 VSX2

Anatomical Context for Microphthalmia, Isolated 2

MalaCards organs/tissues related to Microphthalmia, Isolated 2:

41
Eye, Retina

Publications for Microphthalmia, Isolated 2

Variations for Microphthalmia, Isolated 2

UniProtKB/Swiss-Prot genetic disease variations for Microphthalmia, Isolated 2:

75
# Symbol AA change Variation ID SNP ID
1 VSX2 p.Arg227Trp VAR_029357 rs121912545
2 VSX2 p.Gly223Ala VAR_067269

ClinVar genetic disease variations for Microphthalmia, Isolated 2:

6
(show all 25)
# Gene Variation Type Significance SNP ID Assembly Location
1 VSX2 NM_182894.2(VSX2): c.599G> C (p.Arg200Pro) single nucleotide variant Pathogenic rs121912543 GRCh37 Chromosome 14, 74726324: 74726324
2 VSX2 NM_182894.2(VSX2): c.599G> C (p.Arg200Pro) single nucleotide variant Pathogenic rs121912543 GRCh38 Chromosome 14, 74259621: 74259621
3 VSX2 NM_182894.2(VSX2): c.679C> T (p.Arg227Trp) single nucleotide variant Pathogenic rs121912545 GRCh37 Chromosome 14, 74726404: 74726404
4 VSX2 NM_182894.2(VSX2): c.679C> T (p.Arg227Trp) single nucleotide variant Pathogenic rs121912545 GRCh38 Chromosome 14, 74259701: 74259701
5 VSX2 CHX10, 4-KB DEL, EXON 3 deletion Pathogenic
6 VSX2 NM_182894.2(VSX2): c.299C> A (p.Pro100Gln) single nucleotide variant Benign rs35214083 GRCh37 Chromosome 14, 74706563: 74706563
7 VSX2 NM_182894.2(VSX2): c.299C> A (p.Pro100Gln) single nucleotide variant Benign rs35214083 GRCh38 Chromosome 14, 74239860: 74239860
8 VSX2 NM_182894.2(VSX2): c.871G> A (p.Asp291Asn) single nucleotide variant Benign/Likely benign rs75395981 GRCh37 Chromosome 14, 74727407: 74727407
9 VSX2 NM_182894.2(VSX2): c.871G> A (p.Asp291Asn) single nucleotide variant Benign/Likely benign rs75395981 GRCh38 Chromosome 14, 74260704: 74260704
10 VSX2 NM_182894.2(VSX2): c.522C> T (p.Asp174=) single nucleotide variant Benign/Likely benign rs78509400 GRCh37 Chromosome 14, 74711934: 74711934
11 VSX2 NM_182894.2(VSX2): c.522C> T (p.Asp174=) single nucleotide variant Benign/Likely benign rs78509400 GRCh38 Chromosome 14, 74245231: 74245231
12 VSX2 NM_182894.2(VSX2): c.939T> A (p.Ala313=) single nucleotide variant Conflicting interpretations of pathogenicity rs372651860 GRCh38 Chromosome 14, 74260772: 74260772
13 VSX2 NM_182894.2(VSX2): c.939T> A (p.Ala313=) single nucleotide variant Conflicting interpretations of pathogenicity rs372651860 GRCh37 Chromosome 14, 74727475: 74727475
14 VSX2 NM_182894.2(VSX2): c.93G> A (p.Gly31=) single nucleotide variant Likely benign rs528290024 GRCh37 Chromosome 14, 74706357: 74706357
15 VSX2 NM_182894.2(VSX2): c.93G> A (p.Gly31=) single nucleotide variant Likely benign rs528290024 GRCh38 Chromosome 14, 74239654: 74239654
16 VSX2 NM_182894.2(VSX2): c.66G> C (p.Ser22=) single nucleotide variant Likely benign rs542328201 GRCh37 Chromosome 14, 74706330: 74706330
17 VSX2 NM_182894.2(VSX2): c.66G> C (p.Ser22=) single nucleotide variant Likely benign rs542328201 GRCh38 Chromosome 14, 74239627: 74239627
18 VSX2 NM_182894.2(VSX2): c.162C> A (p.Asp54Glu) single nucleotide variant Likely benign rs61747367 GRCh37 Chromosome 14, 74706426: 74706426
19 VSX2 NM_182894.2(VSX2): c.162C> A (p.Asp54Glu) single nucleotide variant Likely benign rs61747367 GRCh38 Chromosome 14, 74239723: 74239723
20 VSX2 NM_182894.2(VSX2): c.504C> T (p.Asn168=) single nucleotide variant Likely benign rs550984628 GRCh38 Chromosome 14, 74245213: 74245213
21 VSX2 NM_182894.2(VSX2): c.504C> T (p.Asn168=) single nucleotide variant Likely benign rs550984628 GRCh37 Chromosome 14, 74711916: 74711916
22 VSX2 NM_182894.2(VSX2): c.803G> A (p.Arg268Lys) single nucleotide variant Uncertain significance GRCh37 Chromosome 14, 74727339: 74727339
23 VSX2 NM_182894.2(VSX2): c.803G> A (p.Arg268Lys) single nucleotide variant Uncertain significance GRCh38 Chromosome 14, 74260636: 74260636
24 VSX2 NM_182894.2(VSX2): c.1022_1024dup (p.Glu341_Ala342insGlu) duplication Benign GRCh37 Chromosome 14, 74727558: 74727560
25 VSX2 NM_182894.2(VSX2): c.1022_1024dup (p.Glu341_Ala342insGlu) duplication Benign GRCh38 Chromosome 14, 74260855: 74260857

Expression for Microphthalmia, Isolated 2

Search GEO for disease gene expression data for Microphthalmia, Isolated 2.

Pathways for Microphthalmia, Isolated 2

GO Terms for Microphthalmia, Isolated 2

Sources for Microphthalmia, Isolated 2

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69 SNOMED-CT via HPO
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74 UMLS via Orphanet
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