MCOP3
MCID: MCR114
MIFTS: 25

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 57 29 13 6 72
Mcop3 57 12 74
Microphthalmia, Isolated, Type 3 40
Isolated Clinical Anophthalmia 74
Microphthalmia, Isolated, 3 74
Isolated Microphthalmia 3 12

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
microphthalmia, isolated 3:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060842
MeSH 44 D008850
ICD10 33 Q11.0
MedGen 42 C1970237
UMLS 72 C1970237

Summaries for Microphthalmia, Isolated 3

UniProtKB/Swiss-Prot : 74 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 anophthalmia

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.

More information from OMIM: 611038 PS251600

Related Diseases for Microphthalmia, Isolated 3

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

# Related Disease Score Top Affiliating Genes
1 microphthalmia, isolated 2 11.9
2 microphthalmia, isolated 4 11.9
3 microphthalmia, syndromic 9 11.3
4 fryns microphthalmia syndrome 9.9
5 microphthalmia 9.9

Graphical network of the top 20 diseases related to Microphthalmia, Isolated 3:



Diseases related to Microphthalmia, Isolated 3

Symptoms & Phenotypes for Microphthalmia, Isolated 3

Human phenotypes related to Microphthalmia, Isolated 3:

32
# Description HPO Frequency HPO Source Accession
1 microphthalmia 32 HP:0000568
2 anophthalmia 32 HP:0000528
3 sclerocornea 32 HP:0000647
4 ankyloblepharon 32 HP:0009755

Symptoms via clinical synopsis from OMIM:

57
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 29 RAX

Anatomical Context for Microphthalmia, Isolated 3

MalaCards organs/tissues related to Microphthalmia, Isolated 3:

41
Eye, Retina

Publications for Microphthalmia, Isolated 3

Articles related to Microphthalmia, Isolated 3:

# Title Authors PMID Year
1
Confirmation of RAX gene involvement in human anophthalmia. 8 71
18783408 2008
2
Mutations in the human RAX homeobox gene in a patient with anophthalmia and sclerocornea. 8 71
14662654 2004
3
Microphthalmia and synostotic frontal plagiocephaly: a rare clinical entity with implications for craniofacial reconstruction. 8
15988238 2005
4
Bilateral anophthalmia and esophageal atresia: report of a new patient and review of the literature. 8
15389708 2005
5
Microphthalmia/Anophthalmia/Coloboma Spectrum 71
20301552 2004
6
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
7
Gene mapping in an anophthalmic pedigree of a consanguineous Pakistani family opened new horizons for research. 38
27785411 2016
8
Isolated "clinical anophthalmia" in an extensively affected Arab kindred. 38
3378363 1988

Variations for Microphthalmia, Isolated 3

ClinVar genetic disease variations for Microphthalmia, Isolated 3:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 RAX NM_013435.3(RAX): c.439C> T (p.Gln147Ter) single nucleotide variant Pathogenic rs104894663 18:56939697-56939697 18:59272465-59272465
2 RAX NM_013435.3(RAX): c.575G> A (p.Arg192Gln) single nucleotide variant Pathogenic rs121909127 18:56936702-56936702 18:59269470-59269470
3 RAX RAX, 1-BP DEL, 664T deletion Pathogenic
4 RAX NM_013435.3(RAX): c.909C> G (p.Tyr303Ter) single nucleotide variant Pathogenic rs121909128 18:56936368-56936368 18:59269136-59269136
5 RAX NM_013435.3(RAX): c.697G> T (p.Gly233Trp) single nucleotide variant Uncertain significance 18:56936580-56936580 18:59269348-59269348
6 RAX NM_013435.3(RAX): c.729C> A (p.Ser243=) single nucleotide variant Likely benign rs777929939 18:56936548-56936548 18:59269316-59269316

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

74
# Symbol AA change Variation ID SNP ID
1 RAX p.Arg192Gln VAR_034905 rs121909127

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
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
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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