MCOP2
MCID: MCR137
MIFTS: 41

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 56 29 13 6 71
Mcop2 56 12 73
Isolated Microphthalmia 2 12 15
Anophthalmia, Clinical, Isolated 56
Microphthalmia, Isolated, Type 2 39
Isolated Clinical Anophthalmia 73
Microphthalmia, Isolated, 2 73
Anophthalmos 43

Characteristics:

HPO:

31
microphthalmia, isolated 2:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060839
OMIM 56 610093
OMIM Phenotypic Series 56 PS251600
ICD10 32 Q11.0
MedGen 41 C1864720
SNOMED-CT via HPO 68 204108000 258211005 61142002
UMLS 71 C1864720

Summaries for Microphthalmia, Isolated 2

UniProtKB/Swiss-Prot : 73 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 orbital cyst and colobomatous microphthalmia. An important gene associated with Microphthalmia, Isolated 2 is VSX2 (Visual System Homeobox 2), and among its related pathways/superpathways are Ectoderm Differentiation and Signaling pathways regulating pluripotency of stem cells. The drug Calamus has been mentioned in the context of this disorder. Affiliated tissues include eye, retina and small intestine, and related phenotypes are microphthalmia and mortality/aging

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.

More information from OMIM: 610093 PS251600

Related Diseases for Microphthalmia, Isolated 2

Diseases in the Microphthalmia, Isolated 2 family:

Microphthalmia, Isolated 1 Microphthalmia, Isolated 3
Microphthalmia, Isolated 5 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 top 50) (show all 130)
# Related Disease Score Top Affiliating Genes
1 orbital cyst 31.0 RAX HCCS
2 colobomatous microphthalmia 30.4 VSX2 RAX PAX6 OTX2
3 microphthalmia, isolated 3 30.0 VSX2 SOX2 SNCA RAX PAX6 OTX2
4 septooptic dysplasia 29.6 SOX2 PAX6 OTX2
5 fryns microphthalmia syndrome 29.3 VSX2 SOX2 PAX6 OTX2
6 hydrophthalmos 29.2 WDR36 PAX6 MYOC CYP1B1
7 coloboma of macula 29.1 VSX2 SOX2 RAX PAX6 OTX2 CYP1B1
8 microphthalmia 28.7 VSX2 SOX2 RAX PAX6 OTX2 HCCS
9 aniridia 1 28.2 VSX2 SOX2 PAX6 OTX2 MYOC CYP1B1
10 eye disease 27.5 WDR36 VSX2 PAX6 OTX2 MYOC HRAS
11 anophthalmos with limb anomalies 12.5
12 microphthalmia, syndromic 1 11.9
13 microphthalmia, isolated 4 11.9
14 microphthalmia with limb anomalies 11.8
15 microphthalmia, isolated 1 11.5
16 congenital cystic eye 11.5
17 fetal thalidomide syndrome 11.3
18 microphthalmia, syndromic 9 11.3
19 microphthalmia, syndromic 4 10.6
20 congenital aphakia 10.3 RAX PAX6
21 axenfeld-rieger syndrome, type 1 10.2 RAX PAX6
22 cryptophthalmos 10.2
23 encephalocele 10.2
24 sclerocornea 10.1 RAX PAX6 HCCS
25 peripheral retinal degeneration 10.1 WDR36 MYOC
26 cryptophthalmos, unilateral or bilateral, isolated 10.1
27 linear skin defects with multiple congenital anomalies 1 10.1
28 microphthalmia, syndromic 6 10.1
29 microphthalmia, syndromic 5 10.1
30 microphthalmia, syndromic 10 10.1
31 microphthalmia, isolated 6 10.1
32 microphthalmia, isolated 7 10.1
33 microphthalmia, isolated 8 10.1
34 partial cryptophthalmia 10.1
35 congenital symblepharon 10.1
36 lacrimal duct defect 10.1
37 chromosome 2q35 duplication syndrome 10.1
38 yemenite deaf-blind hypopigmentation syndrome 10.1
39 ptosis 10.1
40 blepharophimosis 10.1
41 enophthalmos 10.1
42 synostosis 10.1
43 conjunctivitis 10.1
44 cataract 10.1
45 limb-body wall complex 10.1
46 facial cleft 10.1
47 coenzyme q10 deficiency, primary, 1 10.1 SNCA MYOC
48 persistent hyperplastic primary vitreous 10.1 VSX2 PAX6 OTX2
49 anterior segment dysgenesis 5 10.0 PAX6 CYP1B1
50 lens subluxation 10.0 VSX2 PAX6

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:

31
# Description HPO Frequency HPO Source Accession
1 microphthalmia 31 HP:0000568

Clinical features from OMIM:

610093

MGI Mouse Phenotypes related to Microphthalmia, Isolated 2:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 10.15 COQ6 CPS1 HCCS HRAS LIG3 OTX2
2 homeostasis/metabolism MP:0005376 10.14 COQ6 CPS1 CYP1B1 HCCS HRAS LIG3
3 embryo MP:0005380 10.03 COQ6 HCCS LIG3 OTX2 PAX6 RAX
4 nervous system MP:0003631 9.97 COQ6 HRAS LIG3 OTX2 PAX6 RAX
5 digestive/alimentary MP:0005381 9.93 HRAS OTX2 PAX6 RAX SNCA SOX2
6 normal MP:0002873 9.76 HCCS HRAS MYOC OTX2 PAX6 RAX
7 no phenotypic analysis MP:0003012 9.73 HRAS MYOC RAX SNCA SOX2 VSX2
8 taste/olfaction MP:0005394 9.26 OTX2 PAX6 SNCA SOX2
9 vision/eye MP:0005391 9.23 COQ6 CYP1B1 MYOC OTX2 PAX6 RAX

Drugs & Therapeutics for Microphthalmia, Isolated 2

Drugs for Microphthalmia, Isolated 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Calamus

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Prosthetic Motility and Complications in Pegged Versus Unpegged Hydroxyapatite Orbital Implants Unknown status NCT00371280 Phase 2, Phase 3
2 Autologous Fat Grafting to Anophthalmic Sockets With PRP (Platelet Rich Plasma) Using a Closed Cannula Technique Completed NCT01712555
3 Molecular Analysis of Microphthalmia/Anophthalmia and Related Disorders Completed NCT00011843

Search 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:

40
Eye, Retina, Small Intestine, Skin

Publications for Microphthalmia, Isolated 2

Articles related to Microphthalmia, Isolated 2:

# Title Authors PMID Year
1
Isolated "clinical anophthalmia" in an extensively affected Arab kindred. 61 56 6
3378363 1988
2
Mutations in the CHX10 gene in non-syndromic microphthalmia/anophthalmia patients from Qatar. 56 6
17661825 2007
3
CHX10 mutations cause non-syndromic microphthalmia/ anophthalmia in Arab and Jewish kindreds. 56 6
15257456 2004
4
Microphthalmia and synostotic frontal plagiocephaly: a rare clinical entity with implications for craniofacial reconstruction. 56
15988238 2005
5
Bilateral anophthalmia and esophageal atresia: report of a new patient and review of the literature. 56
15389708 2005
6
Microphthalmia/Anophthalmia/Coloboma Spectrum 6
20301552 2004
7
A clinical and molecular genetic study of a rare dominantly inherited syndrome (MRCS) comprising of microcornea, rod-cone dystrophy, cataract, and posterior staphyloma. 56
12543751 2003
8
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
9
Gene mapping in an anophthalmic pedigree of a consanguineous Pakistani family opened new horizons for research. 61
27785411 2016

Variations for Microphthalmia, Isolated 2

ClinVar genetic disease variations for Microphthalmia, Isolated 2:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 VSX2 CHX10, 4-KB DEL, EXON 3deletion Pathogenic 14863
2 VSX2 NM_182894.3(VSX2):c.599G>C (p.Arg200Pro)SNV Pathogenic 14861 rs121912543 14:74726324-74726324 14:74259621-74259621
3 VSX2 NC_000014.8:g.(?_74706255)_(74712001_?)deldeletion Pathogenic 645368 14:74706255-74712001 14:74239552-74245298
4 VSX2 NM_182894.3(VSX2):c.679C>T (p.Arg227Trp)SNV Uncertain significance 14862 rs121912545 14:74726404-74726404 14:74259701-74259701
5 VSX2 NM_182894.3(VSX2):c.803G>A (p.Arg268Lys)SNV Uncertain significance 536259 rs1311702446 14:74727339-74727339 14:74260636-74260636
6 VSX2 NM_182894.3(VSX2):c.1013_1015AGG[3] (p.Glu341del)short repeat Uncertain significance 574909 rs144220788 14:74727548-74727550 14:74260845-74260847
7 VSX2 NM_182894.3(VSX2):c.638G>A (p.Ser213Asn)SNV Uncertain significance 660623 14:74726363-74726363 14:74259660-74259660
8 VSX2 NM_182894.3(VSX2):c.871G>A (p.Asp291Asn)SNV Benign/Likely benign 197895 rs75395981 14:74727407-74727407 14:74260704-74260704

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

73
# Symbol AA change Variation ID SNP ID
1 VSX2 p.Arg227Trp VAR_029357 rs121912545
2 VSX2 p.Gly223Ala VAR_067269

Expression for Microphthalmia, Isolated 2

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

Pathways for Microphthalmia, Isolated 2

Pathways related to Microphthalmia, Isolated 2 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.49 SOX2 SNCA PAX6
2 11.28 SOX2 PAX6 HRAS
3 10.92 SOX2 PAX6 OTX2
4 10.73 SOX2 OTX2

GO Terms for Microphthalmia, Isolated 2

Cellular components related to Microphthalmia, Isolated 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclear chromatin GO:0000790 9.55 VSX2 SOX2 RAX PAX6 OTX2
2 mitochondrion GO:0005739 9.5 SNCA MYOC LIG3 HCCS CYP1B1 CPS1
3 mitochondrial inner membrane GO:0005743 9.02 SNCA MYOC HCCS CPS1 COQ6

Biological processes related to Microphthalmia, Isolated 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 eye development GO:0001654 9.43 SOX2 PAX6
2 animal organ morphogenesis GO:0009887 9.43 PAX6 HRAS HCCS
3 cellular response to fibroblast growth factor stimulus GO:0044344 9.4 SNCA CPS1
4 pituitary gland development GO:0021983 9.37 SOX2 PAX6
5 regulation of reactive oxygen species metabolic process GO:2000377 9.32 SNCA CYP1B1
6 regulation of long-term neuronal synaptic plasticity GO:0048169 9.16 SNCA HRAS
7 forebrain development GO:0030900 9.13 SOX2 PAX6 OTX2
8 visual perception GO:0007601 9.02 WDR36 VSX2 RAX PAX6 CYP1B1

Molecular functions related to Microphthalmia, Isolated 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.26 SOX2 RAX PAX6 OTX2
2 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen GO:0016712 9.16 CYP1B1 COQ6
3 sequence-specific DNA binding GO:0043565 9.02 VSX2 SOX2 RAX PAX6 OTX2

Sources for Microphthalmia, Isolated 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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