MCOP2
MCID: MCR137
MIFTS: 25

Microphthalmia, Isolated 2 (MCOP2)

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

Aliases & Classifications for Microphthalmia, Isolated 2

MalaCards integrated aliases for Microphthalmia, Isolated 2:

Name: Microphthalmia, Isolated 2 58 30 13 6 74
Mcop2 58 12 76
Anophthalmia, Clinical, Isolated 58
Microphthalmia, Isolated, Type 2 41
Isolated Clinical Anophthalmia 76
Microphthalmia, Isolated, 2 76
Isolated Microphthalmia 2 12
Anophthalmos 45

Characteristics:

HPO:

33
microphthalmia, isolated 2:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060839
OMIM 58 610093
ICD10 34 Q11.0
MedGen 43 C1864720
SNOMED-CT via HPO 70 204108000 258211005 61142002
UMLS 74 C1864720

Summaries for Microphthalmia, Isolated 2

UniProtKB/Swiss-Prot : 76 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, isolated 3. An important gene associated with Microphthalmia, Isolated 2 is VSX2 (Visual System Homeobox 2). Affiliated tissues include eye, retina and skin, 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

Diseases in the Microphthalmia, Isolated 5 family:

Microphthalmia, Isolated 1 Microphthalmia, Isolated 2
Microphthalmia, Isolated 3 Microphthalmia, Isolated 4
Microphthalmia, Isolated 6 Microphthalmia, Isolated 7
Microphthalmia, Isolated 8

Diseases related to Microphthalmia, Isolated 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 45)
# Related Disease Score Top Affiliating Genes
1 anophthalmos with limb anomalies 12.4
2 microphthalmia, isolated 3 11.7
3 microphthalmia, isolated 4 11.7
4 microphthalmia, syndromic 1 11.6
5 microphthalmia, isolated 1 11.4
6 microphthalmia with limb anomalies 11.3
7 fetal thalidomide syndrome 11.2
8 microphthalmia, syndromic 9 11.2
9 congenital cystic eye 11.1
10 microphthalmia 11.0
11 coloboma of macula 10.3
12 orbital cyst 10.3
13 cryptophthalmos 10.2
14 enophthalmos 10.1
15 limb-body wall complex 10.1
16 cryptophthalmos, unilateral or bilateral, isolated 10.0
17 microphthalmia, syndromic 4 10.0
18 linear skin defects with multiple congenital anomalies 1 10.0
19 microphthalmia, syndromic 6 10.0
20 microphthalmia, syndromic 5 10.0
21 microphthalmia, syndromic 10 10.0
22 microphthalmia, isolated 6 10.0
23 microphthalmia, isolated 7 10.0
24 microphthalmia, isolated 8 10.0
25 congenital symblepharon 10.0
26 oculo-cerebral dysplasia 10.0
27 colobomatous microphthalmia 10.0
28 complete cryptophthalmia 10.0
29 partial cryptophthalmia 10.0
30 cleft palate, isolated 10.0
31 hemifacial microsomia 10.0
32 chromosome 2q35 duplication syndrome 10.0
33 cerebellar hypoplasia 10.0
34 hypomelanosis of ito 10.0
35 thoracoabdominal syndrome 10.0
36 yemenite deaf-blind hypopigmentation syndrome 10.0
37 cataract 10.0
38 ectropion 10.0
39 teratoma 10.0
40 retinal degeneration 10.0
41 waardenburg's syndrome 10.0
42 branchial arch defects 10.0
43 encephalocele 10.0
44 pentalogy of cantrell 10.0
45 fryns microphthalmia syndrome 9.8

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



Diseases related to Microphthalmia, Isolated 2

Symptoms & Phenotypes for Microphthalmia, Isolated 2

Human phenotypes related to Microphthalmia, Isolated 2:

33
# Description HPO Frequency HPO Source Accession
1 microphthalmia 33 HP:0000568

Clinical features from OMIM:

610093

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 30 VSX2

Anatomical Context for Microphthalmia, Isolated 2

MalaCards organs/tissues related to Microphthalmia, Isolated 2:

42
Eye, Retina, Skin

Publications for Microphthalmia, Isolated 2

Articles related to Microphthalmia, Isolated 2:

# Title Authors Year
1
Mutations in the CHX10 gene in non-syndromic microphthalmia/anophthalmia patients from Qatar. ( 17661825 )
2007
2
CHX10 mutations cause non-syndromic microphthalmia/ anophthalmia in Arab and Jewish kindreds. ( 15257456 )
2004
3
Human microphthalmia associated with mutations in the retinal homeobox gene CHX10. Percin EF, Ploder LA, Yu JJ, Arici K, Horsford DJ, Rutherford A, Bapat B, Cox DW, Duncan AMV, Kalnins VI, Kocak-Altintas A, Sowden JC, Trabousli E, Sarfarazi M, McInnes RR.*(1) Nat Gen 2000;25:397-401. ( 11341888 )
2001
4
Isolated "clinical anophthalmia" in an extensively affected Arab kindred. ( 3378363 )
1988

Variations for Microphthalmia, Isolated 2

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

76
# 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 27)
# 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 Uncertain significance rs121912545 GRCh37 Chromosome 14, 74726404: 74726404
4 VSX2 NM_182894.2(VSX2): c.679C> T (p.Arg227Trp) single nucleotide variant Uncertain significance 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 GRCh38 Chromosome 14, 74239723: 74239723
19 VSX2 NM_182894.2(VSX2): c.162C> A (p.Asp54Glu) single nucleotide variant Likely benign rs61747367 GRCh37 Chromosome 14, 74706426: 74706426
20 VSX2 NM_182894.2(VSX2): c.504C> T (p.Asn168=) single nucleotide variant Likely benign rs550984628 GRCh37 Chromosome 14, 74711916: 74711916
21 VSX2 NM_182894.2(VSX2): c.504C> T (p.Asn168=) single nucleotide variant Likely benign rs550984628 GRCh38 Chromosome 14, 74245213: 74245213
22 VSX2 NM_182894.2(VSX2): c.803G> A (p.Arg268Lys) single nucleotide variant Uncertain significance rs1311702446 GRCh37 Chromosome 14, 74727339: 74727339
23 VSX2 NM_182894.2(VSX2): c.803G> A (p.Arg268Lys) single nucleotide variant Uncertain significance rs1311702446 GRCh38 Chromosome 14, 74260636: 74260636
24 VSX2 NM_182894.2(VSX2): c.1022_1024dup (p.Glu341_Ala342insGlu) duplication Benign rs144220788 GRCh37 Chromosome 14, 74727558: 74727560
25 VSX2 NM_182894.2(VSX2): c.1022_1024dup (p.Glu341_Ala342insGlu) duplication Benign rs144220788 GRCh38 Chromosome 14, 74260855: 74260857
26 VSX2 NM_182894.2(VSX2): c.1022_1024delAGG (p.Glu341del) deletion Uncertain significance GRCh37 Chromosome 14, 74727558: 74727560
27 VSX2 NM_182894.2(VSX2): c.1022_1024delAGG (p.Glu341del) deletion Uncertain significance 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

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
Content
Loading form....