MCOP3
MCID: MCR114
MIFTS: 23

Microphthalmia, Isolated 3 (MCOP3)

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

Aliases & Classifications for Microphthalmia, Isolated 3

MalaCards integrated aliases for Microphthalmia, Isolated 3:

Name: Microphthalmia, Isolated 3 58 30 13 6 74
Mcop3 58 12 76
Microphthalmia, Isolated, Type 3 41
Isolated Clinical Anophthalmia 76
Microphthalmia, Isolated, 3 76
Isolated Microphthalmia 3 12

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
microphthalmia, isolated 3:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060842
OMIM 58 611038
MeSH 45 D008850
ICD10 34 Q11.0
MedGen 43 C1970237
UMLS 74 C1970237

Summaries for Microphthalmia, Isolated 3

UniProtKB/Swiss-Prot : 76 Microphthalmia, isolated, 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.

MalaCards based summary : Microphthalmia, Isolated 3, also known as mcop3, is related to microphthalmia, isolated 2 and microphthalmia, isolated 4. An important gene associated with Microphthalmia, Isolated 3 is RAX (Retina And Anterior Neural Fold Homeobox). Affiliated tissues include eye and retina, and related phenotypes are microphthalmia and sclerocornea

Disease Ontology : 12 A microphthalmia characterized by clinical anophthalmia and/or microphthalmia that has material basis in compound heterozygous mutation in the RAX gene on chromosome 18q21.

Description from OMIM: 611038

Related Diseases for Microphthalmia, Isolated 3

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 3 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 microphthalmia, isolated 2 11.7
2 microphthalmia, isolated 4 11.7
3 microphthalmia, syndromic 9 11.2
4 fryns microphthalmia syndrome 9.8

Symptoms & Phenotypes for Microphthalmia, Isolated 3

Human phenotypes related to Microphthalmia, Isolated 3:

33
# Description HPO Frequency HPO Source Accession
1 microphthalmia 33 HP:0000568
2 sclerocornea 33 HP:0000647
3 ankyloblepharon 33 HP:0009755
4 anophthalmia 33 HP:0000528

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
microphthalmia
sclerocornea
ankyloblepharon
anophthalmia, clinical

Clinical features from OMIM:

611038

Drugs & Therapeutics for Microphthalmia, Isolated 3

Search Clinical Trials , NIH Clinical Center for Microphthalmia, Isolated 3

Genetic Tests for Microphthalmia, Isolated 3

Genetic tests related to Microphthalmia, Isolated 3:

# Genetic test Affiliating Genes
1 Microphthalmia, Isolated 3 30 RAX

Anatomical Context for Microphthalmia, Isolated 3

MalaCards organs/tissues related to Microphthalmia, Isolated 3:

42
Eye, Retina

Publications for Microphthalmia, Isolated 3

Articles related to Microphthalmia, Isolated 3:

# Title Authors Year
1
Confirmation of RAX gene involvement in human anophthalmia. ( 18783408 )
2008
2
Mutations in the human RAX homeobox gene in a patient with anophthalmia and sclerocornea. ( 14662654 )
2004
3
Isolated "clinical anophthalmia" in an extensively affected Arab kindred. ( 3378363 )
1988

Variations for Microphthalmia, Isolated 3

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

76
# Symbol AA change Variation ID SNP ID
1 RAX p.Arg192Gln VAR_034905 rs121909127

ClinVar genetic disease variations for Microphthalmia, Isolated 3:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 RAX NM_013435.2(RAX): c.439C> T (p.Gln147Ter) single nucleotide variant Pathogenic rs104894663 GRCh37 Chromosome 18, 56939697: 56939697
2 RAX NM_013435.2(RAX): c.439C> T (p.Gln147Ter) single nucleotide variant Pathogenic rs104894663 GRCh38 Chromosome 18, 59272465: 59272465
3 RAX NM_013435.2(RAX): c.575G> A (p.Arg192Gln) single nucleotide variant Pathogenic rs121909127 GRCh37 Chromosome 18, 56936702: 56936702
4 RAX NM_013435.2(RAX): c.575G> A (p.Arg192Gln) single nucleotide variant Pathogenic rs121909127 GRCh38 Chromosome 18, 59269470: 59269470
5 RAX RAX, 1-BP DEL, 664T deletion Pathogenic
6 RAX NM_013435.2(RAX): c.909C> G (p.Tyr303Ter) single nucleotide variant Pathogenic rs121909128 GRCh37 Chromosome 18, 56936368: 56936368
7 RAX NM_013435.2(RAX): c.909C> G (p.Tyr303Ter) single nucleotide variant Pathogenic rs121909128 GRCh38 Chromosome 18, 59269136: 59269136
8 RAX NM_013435.2(RAX): c.729C> A (p.Ser243=) single nucleotide variant Likely benign rs777929939 GRCh37 Chromosome 18, 56936548: 56936548
9 RAX NM_013435.2(RAX): c.729C> A (p.Ser243=) single nucleotide variant Likely benign rs777929939 GRCh38 Chromosome 18, 59269316: 59269316

Expression for Microphthalmia, Isolated 3

Search GEO for disease gene expression data for Microphthalmia, Isolated 3.

Pathways for Microphthalmia, Isolated 3

GO Terms for Microphthalmia, Isolated 3

Sources for Microphthalmia, Isolated 3

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
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