MCOP2
MCID: MCR137
MIFTS: 30

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 57 29 13 6 72
Mcop2 57 12 74
Anophthalmia, Clinical, Isolated 57
Microphthalmia, Isolated, Type 2 40
Isolated Clinical Anophthalmia 74
Microphthalmia, Isolated, 2 74
Isolated Microphthalmia 2 12
Anophthalmos 44

Characteristics:

HPO:

32
microphthalmia, isolated 2:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060839
ICD10 33 Q11.0
MedGen 42 C1864720
UMLS 72 C1864720

Summaries for Microphthalmia, Isolated 2

UniProtKB/Swiss-Prot : 74 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). The drug Calamus has been mentioned in the context of this disorder. 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.

More information from OMIM: 610093 PS251600

Related Diseases for Microphthalmia, Isolated 2

Diseases in the Microphthalmia, Isolated 1 family:

Microphthalmia, Isolated 2 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 89)
# Related Disease Score Top Affiliating Genes
1 anophthalmos with limb anomalies 12.5
2 microphthalmia, syndromic 1 11.9
3 microphthalmia, isolated 3 11.9
4 microphthalmia, isolated 4 11.9
5 microphthalmia with limb anomalies 11.8
6 microphthalmia, isolated 1 11.5
7 congenital cystic eye 11.5
8 fetal thalidomide syndrome 11.3
9 microphthalmia, syndromic 9 11.3
10 microphthalmia, syndromic 4 10.6
11 colobomatous microphthalmia 10.4
12 orbital cyst 10.4
13 coloboma of macula 10.3
14 cryptophthalmos 10.2
15 encephalocele 10.2
16 cryptophthalmos, unilateral or bilateral, isolated 10.1
17 linear skin defects with multiple congenital anomalies 1 10.1
18 microphthalmia, syndromic 6 10.1
19 microphthalmia, syndromic 5 10.1
20 microphthalmia, syndromic 10 10.1
21 microphthalmia, isolated 6 10.1
22 microphthalmia, isolated 7 10.1
23 microphthalmia, isolated 8 10.1
24 partial cryptophthalmia 10.1
25 congenital symblepharon 10.1
26 chromosome 2q35 duplication syndrome 10.1
27 yemenite deaf-blind hypopigmentation syndrome 10.1
28 ptosis 10.1
29 blepharophimosis 10.1
30 enophthalmos 10.1
31 synostosis 10.1
32 conjunctivitis 10.1
33 cataract 10.1
34 limb-body wall complex 10.1
35 facial cleft 10.1
36 aniridia 1 9.9
37 cleft palate, isolated 9.9
38 lacrimal duct defect 9.9
39 hemifacial microsomia 9.9
40 optic nerve hypoplasia, bilateral 9.9
41 retinoblastoma 9.9
42 septooptic dysplasia 9.9
43 tetralogy of fallot 9.9
44 tracheoesophageal fistula with or without esophageal atresia 9.9
45 down syndrome 9.9
46 cerebellar hypoplasia 9.9
47 fraser syndrome 1 9.9
48 cryptorchidism, unilateral or bilateral 9.9
49 holoprosencephaly 1 9.9
50 hypomelanosis of ito 9.9

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:

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

Clinical features from OMIM:

610093

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:

41
Eye, Retina

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. 38 8 71
3378363 1988
2
Mutations in the CHX10 gene in non-syndromic microphthalmia/anophthalmia patients from Qatar. 8 71
17661825 2007
3
CHX10 mutations cause non-syndromic microphthalmia/ anophthalmia in Arab and Jewish kindreds. 8 71
15257456 2004
4
Microphthalmia and synostotic frontal plagiocephaly: a rare clinical entity with implications for craniofacial reconstruction. 8
15988238 2005
5
Bilateral anophthalmia and esophageal atresia: report of a new patient and review of the literature. 8
15389708 2005
6
Microphthalmia/Anophthalmia/Coloboma Spectrum 71
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. 8
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. 71
11341888 2001
9
Gene mapping in an anophthalmic pedigree of a consanguineous Pakistani family opened new horizons for research. 38
27785411 2016

Variations for Microphthalmia, Isolated 2

ClinVar genetic disease variations for Microphthalmia, Isolated 2:

6 (show all 16)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 VSX2 NM_182894.3(VSX2): c.599G> C (p.Arg200Pro) single nucleotide variant Pathogenic rs121912543 14:74726324-74726324 14:74259621-74259621
2 VSX2 CHX10, 4-KB DEL, EXON 3 deletion Pathogenic
3 VSX2 NC_000014.8: g.(?_74706255)_(74712001_?)del deletion Pathogenic 14:74706255-74712001 14:74239552-74245298
4 VSX2 NM_182894.3(VSX2): c.939T> A (p.Ala313=) single nucleotide variant Conflicting interpretations of pathogenicity rs372651860 14:74727475-74727475 14:74260772-74260772
5 VSX2 NM_182894.3(VSX2): c.1013_1015AGG[3] (p.Glu341del) short repeat Uncertain significance 14:74727558-74727560 14:74260855-74260857
6 VSX2 NM_182894.3(VSX2): c.638G> A (p.Ser213Asn) single nucleotide variant Uncertain significance 14:74726363-74726363 14:74259660-74259660
7 VSX2 NM_182894.3(VSX2): c.679C> T (p.Arg227Trp) single nucleotide variant Uncertain significance rs121912545 14:74726404-74726404 14:74259701-74259701
8 VSX2 NM_182894.3(VSX2): c.803G> A (p.Arg268Lys) single nucleotide variant Uncertain significance rs1311702446 14:74727339-74727339 14:74260636-74260636
9 VSX2 NM_182894.3(VSX2): c.93G> A (p.Gly31=) single nucleotide variant Likely benign rs528290024 14:74706357-74706357 14:74239654-74239654
10 VSX2 NM_182894.3(VSX2): c.66G> C (p.Ser22=) single nucleotide variant Likely benign rs542328201 14:74706330-74706330 14:74239627-74239627
11 VSX2 NM_182894.3(VSX2): c.162C> A (p.Asp54Glu) single nucleotide variant Likely benign rs61747367 14:74706426-74706426 14:74239723-74239723
12 VSX2 NM_182894.3(VSX2): c.504C> T (p.Asn168=) single nucleotide variant Likely benign rs550984628 14:74711916-74711916 14:74245213-74245213
13 VSX2 NM_182894.3(VSX2): c.871G> A (p.Asp291Asn) single nucleotide variant Benign/Likely benign rs75395981 14:74727407-74727407 14:74260704-74260704
14 VSX2 NM_182894.3(VSX2): c.522C> T (p.Asp174=) single nucleotide variant Benign/Likely benign rs78509400 14:74711934-74711934 14:74245231-74245231
15 VSX2 NM_182894.3(VSX2): c.299C> A (p.Pro100Gln) single nucleotide variant Benign rs35214083 14:74706563-74706563 14:74239860-74239860
16 VSX2 NM_182894.3(VSX2): c.1013_1015AGG[5] (p.Glu341dup) short repeat Benign rs144220788 14:74727558-74727560 14:74260855-74260857

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

74
# 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

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
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
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36 IUPHAR
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51 NDF-RT
54 NINDS
55 Novoseek
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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