MCOPCB3
MCID: MCR349
MIFTS: 24

Microphthalmia, Isolated, with Coloboma 3 (MCOPCB3)

Categories: Eye diseases, 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 70
Microphthalmia with Coloboma 3 57 29 13
Microphthalmia, Cataracts, and Iris Abnormalities 29 6
Mcopcb3 57 72
Microphthalmia with Cataracts and Iris Abnormalities 72
Microphthalmia, Isolated, with Coloboma, Type 3 39
Microphthalmia, Isolated, with Coloboma, 3 72
Microphthalmia, Colobomatous, Isolated 3 57
Isolated Colobomatous Microphthalmia 3 72
Mcopcti 72

Characteristics:

HPO:

31
microphthalmia, isolated, with coloboma 3:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 610092
OMIM Phenotypic Series 57 PS300345
UMLS 70 C1864721

Summaries for Microphthalmia, Isolated, with Coloboma 3

UniProtKB/Swiss-Prot : 72 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 with coloboma 3. An important gene associated with Microphthalmia, Isolated, with Coloboma 3 is VSX2 (Visual System Homeobox 2). Affiliated tissues include eye and retina, and related phenotypes are cataract and iris coloboma

More information from OMIM: 610092 PS300345

Related Diseases for Microphthalmia, Isolated, with Coloboma 3

Symptoms & Phenotypes for Microphthalmia, Isolated, with Coloboma 3

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

31
# Description HPO Frequency HPO Source Accession
1 cataract 31 HP:0000518
2 iris coloboma 31 HP:0000612
3 microphthalmia 31 HP:0000568

Clinical features from OMIM®:

610092 (Updated 05-Apr-2021)

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
3 Microphthalmia with Coloboma 3 29

Anatomical Context for Microphthalmia, Isolated, with Coloboma 3

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

40
Eye, Retina

Publications for Microphthalmia, Isolated, with Coloboma 3

Articles related to Microphthalmia, Isolated, with Coloboma 3:

# Title Authors PMID Year
1
CHX10 mutations cause non-syndromic microphthalmia/ anophthalmia in Arab and Jewish kindreds. 6 57
15257456 2004
2
Mutations in the CHX10 gene in non-syndromic microphthalmia/anophthalmia patients from Qatar. 6
17661825 2007
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. 6
11341888 2001
4
Autosomal recessive colobomatous microphthalmia. 57
8209881 1994

Variations for Microphthalmia, Isolated, with Coloboma 3

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

6 (show top 50) (show all 84)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 VSX2 NM_182894.3(VSX2):c.599G>A (p.Arg200Gln) SNV Pathogenic 14860 rs121912543 GRCh37: 14:74726324-74726324
GRCh38: 14:74259621-74259621
2 VSX2 CHX10, IVS1, G-A, -1 SNV Pathogenic 14864 GRCh37:
GRCh38:
3 VSX2 NM_182894.3(VSX2):c.599G>C (p.Arg200Pro) SNV Pathogenic 14861 rs121912543 GRCh37: 14:74726324-74726324
GRCh38: 14:74259621-74259621
4 VSX2 NM_182894.3(VSX2):c.598C>T (p.Arg200Ter) SNV Pathogenic 1034416 GRCh37: 14:74726323-74726323
GRCh38: 14:74259620-74259620
5 VSX2 NM_182894.3(VSX2):c.599G>C (p.Arg200Pro) SNV Likely pathogenic 14861 rs121912543 GRCh37: 14:74726324-74726324
GRCh38: 14:74259621-74259621
6 VSX2 NM_182894.3(VSX2):c.299C>A (p.Pro100Gln) SNV Uncertain significance 167839 rs35214083 GRCh37: 14:74706563-74706563
GRCh38: 14:74239860-74239860
7 VSX2 NM_182894.3(VSX2):c.*54G>A SNV Uncertain significance 314208 rs144840915 GRCh37: 14:74727676-74727676
GRCh38: 14:74260973-74260973
8 VSX2 NM_182894.3(VSX2):c.866G>A (p.Gly289Asp) SNV Uncertain significance 68079 rs199473712 GRCh37: 14:74727402-74727402
GRCh38: 14:74260699-74260699
9 VSX2 NM_182894.3(VSX2):c.*1537G>A SNV Uncertain significance 884221 GRCh37: 14:74729159-74729159
GRCh38: 14:74262456-74262456
10 VSX2 NM_182894.3(VSX2):c.*1311G>A SNV Uncertain significance 314222 rs114889622 GRCh37: 14:74728933-74728933
GRCh38: 14:74262230-74262230
11 VSX2 NM_182894.3(VSX2):c.921G>T (p.Ala307=) SNV Uncertain significance 314202 rs768286032 GRCh37: 14:74727457-74727457
GRCh38: 14:74260754-74260754
12 VSX2 NM_182894.3(VSX2):c.*250C>T SNV Uncertain significance 314210 rs144569223 GRCh37: 14:74727872-74727872
GRCh38: 14:74261169-74261169
13 VSX2 NM_182894.3(VSX2):c.*1377C>T SNV Uncertain significance 314224 rs150033933 GRCh37: 14:74728999-74728999
GRCh38: 14:74262296-74262296
14 VSX2 NM_182894.3(VSX2):c.*855G>A SNV Uncertain significance 314216 rs45608043 GRCh37: 14:74728477-74728477
GRCh38: 14:74261774-74261774
15 VSX2 NM_182894.3(VSX2):c.-54G>A SNV Uncertain significance 314190 rs565838448 GRCh37: 14:74706211-74706211
GRCh38: 14:74239508-74239508
16 VSX2 NM_182894.3(VSX2):c.*1521T>C SNV Uncertain significance 314227 rs886050742 GRCh37: 14:74729143-74729143
GRCh38: 14:74262440-74262440
17 VSX2 NM_182894.3(VSX2):c.*1161C>A SNV Uncertain significance 314219 rs147524933 GRCh37: 14:74728783-74728783
GRCh38: 14:74262080-74262080
18 VSX2 NM_182894.3(VSX2):c.777G>T (p.Ser259=) SNV Uncertain significance 314198 rs371707151 GRCh37: 14:74727313-74727313
GRCh38: 14:74260610-74260610
19 VSX2 NM_182894.3(VSX2):c.*1511C>T SNV Uncertain significance 314226 rs145366747 GRCh37: 14:74729133-74729133
GRCh38: 14:74262430-74262430
20 VSX2 NM_182894.3(VSX2):c.810C>G (p.Pro270=) SNV Uncertain significance 314199 rs759166720 GRCh37: 14:74727346-74727346
GRCh38: 14:74260643-74260643
21 VSX2 NM_182894.3(VSX2):c.244G>A (p.Gly82Arg) SNV Uncertain significance 285031 rs375294678 GRCh37: 14:74706508-74706508
GRCh38: 14:74239805-74239805
22 VSX2 NM_182894.3(VSX2):c.*1764A>G SNV Uncertain significance 314233 rs886050746 GRCh37: 14:74729386-74729386
GRCh38: 14:74262683-74262683
23 VSX2 NM_182894.3(VSX2):c.*1757A>T SNV Uncertain significance 314232 rs886050745 GRCh37: 14:74729379-74729379
GRCh38: 14:74262676-74262676
24 VSX2 NM_182894.3(VSX2):c.-68G>C SNV Uncertain significance 314189 rs886050734 GRCh37: 14:74706197-74706197
GRCh38: 14:74239494-74239494
25 VSX2 NM_182894.3(VSX2):c.*1565G>A SNV Uncertain significance 314229 rs142543750 GRCh37: 14:74729187-74729187
GRCh38: 14:74262484-74262484
26 VSX2 NM_182894.3(VSX2):c.*156G>A SNV Uncertain significance 314209 rs141741225 GRCh37: 14:74727778-74727778
GRCh38: 14:74261075-74261075
27 VSX2 NM_182894.3(VSX2):c.*1753C>T SNV Uncertain significance 314231 rs886050744 GRCh37: 14:74729375-74729375
GRCh38: 14:74262672-74262672
28 VSX2 NM_182894.3(VSX2):c.533G>A (p.Arg178Gln) SNV Uncertain significance 314194 rs886050738 GRCh37: 14:74711945-74711945
GRCh38: 14:74245242-74245242
29 VSX2 NM_182894.3(VSX2):c.*775A>G SNV Uncertain significance 314215 rs886050740 GRCh37: 14:74728397-74728397
GRCh38: 14:74261694-74261694
30 VSX2 NM_182894.3(VSX2):c.*1029T>A SNV Uncertain significance 314217 rs45474800 GRCh37: 14:74728651-74728651
GRCh38: 14:74261948-74261948
31 VSX2 NM_182894.3(VSX2):c.777G>A (p.Ser259=) SNV Uncertain significance 314197 rs371707151 GRCh37: 14:74727313-74727313
GRCh38: 14:74260610-74260610
32 VSX2 NM_182894.3(VSX2):c.*11G>A SNV Uncertain significance 314204 rs140814896 GRCh37: 14:74727633-74727633
GRCh38: 14:74260930-74260930
33 VSX2 NM_182894.3(VSX2):c.*1447C>G SNV Uncertain significance 314225 rs886050741 GRCh37: 14:74729069-74729069
GRCh38: 14:74262366-74262366
34 VSX2 NM_182894.3(VSX2):c.*13T>G SNV Uncertain significance 314205 rs886050739 GRCh37: 14:74727635-74727635
GRCh38: 14:74260932-74260932
35 VSX2 NM_182894.3(VSX2):c.*45T>C SNV Uncertain significance 314207 rs546717162 GRCh37: 14:74727667-74727667
GRCh38: 14:74260964-74260964
36 VSX2 NM_182894.3(VSX2):c.175G>A (p.Gly59Arg) SNV Uncertain significance 314192 rs886050736 GRCh37: 14:74706439-74706439
GRCh38: 14:74239736-74239736
37 VSX2 NM_182894.3(VSX2):c.306C>A (p.Ser102Arg) SNV Uncertain significance 314193 rs886050737 GRCh37: 14:74706570-74706570
GRCh38: 14:74239867-74239867
38 VSX2 NM_182894.3(VSX2):c.649G>C (p.Ala217Pro) SNV Uncertain significance 885150 GRCh37: 14:74726374-74726374
GRCh38: 14:74259671-74259671
39 VSX2 NM_182894.3(VSX2):c.699C>T (p.Pro233=) SNV Uncertain significance 705711 rs141712104 GRCh37: 14:74726424-74726424
GRCh38: 14:74259721-74259721
40 VSX2 NM_182894.3(VSX2):c.*641C>T SNV Uncertain significance 885281 GRCh37: 14:74728263-74728263
GRCh38: 14:74261560-74261560
41 VSX2 NM_182894.3(VSX2):c.*782C>A SNV Uncertain significance 885282 GRCh37: 14:74728404-74728404
GRCh38: 14:74261701-74261701
42 VSX2 NM_182894.3(VSX2):c.760+11G>A SNV Uncertain significance 886059 GRCh37: 14:74726496-74726496
GRCh38: 14:74259793-74259793
43 VSX2 NM_182894.3(VSX2):c.*70C>T SNV Uncertain significance 886119 GRCh37: 14:74727692-74727692
GRCh38: 14:74260989-74260989
44 VSX2 NM_182894.3(VSX2):c.*150G>C SNV Uncertain significance 886120 GRCh37: 14:74727772-74727772
GRCh38: 14:74261069-74261069
45 VSX2 NM_182894.3(VSX2):c.*250C>G SNV Uncertain significance 886121 GRCh37: 14:74727872-74727872
GRCh38: 14:74261169-74261169
46 VSX2 NM_182894.3(VSX2):c.*962G>T SNV Uncertain significance 886183 GRCh37: 14:74728584-74728584
GRCh38: 14:74261881-74261881
47 VSX2 NM_182894.3(VSX2):c.*1073G>A SNV Uncertain significance 886184 GRCh37: 14:74728695-74728695
GRCh38: 14:74261992-74261992
48 VSX2 NM_182894.3(VSX2):c.*1640T>C SNV Uncertain significance 886252 GRCh37: 14:74729262-74729262
GRCh38: 14:74262559-74262559
49 VSX2 NM_182894.3(VSX2):c.*1718T>C SNV Uncertain significance 886253 GRCh37: 14:74729340-74729340
GRCh38: 14:74262637-74262637
50 VSX2 NM_182894.3(VSX2):c.370+3A>G SNV Uncertain significance 886991 GRCh37: 14:74706637-74706637
GRCh38: 14:74239934-74239934

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

72
# 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

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
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
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45 MESH via Orphanet
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49 NCI
50 NCIt
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53 NINDS
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56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
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69 Tocris
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71 UMLS via Orphanet
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