MCOP3
MCID: MCR114
MIFTS: 39

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 56 29 13 6 71
Mcop3 56 12 73
Isolated Microphthalmia 3 12 15
Microphthalmia, Isolated, Type 3 39
Isolated Clinical Anophthalmia 73
Microphthalmia, Isolated, 3 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
microphthalmia, isolated 3:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060842
OMIM 56 611038
OMIM Phenotypic Series 56 PS251600
MeSH 43 D008850
ICD10 32 Q11.0
MedGen 41 C1970237
UMLS 71 C1970237

Summaries for Microphthalmia, Isolated 3

UniProtKB/Swiss-Prot : 73 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 fryns microphthalmia syndrome. An important gene associated with Microphthalmia, Isolated 3 is RAX (Retina And Anterior Neural Fold Homeobox), and among its related pathways/superpathways are Mesodermal Commitment Pathway and Ectoderm Differentiation. Affiliated tissues include eye, retina and small intestine, 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 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 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 33)
# Related Disease Score Top Affiliating Genes
1 microphthalmia, isolated 2 29.0 VSX2 SOX2 SNCA RAX PAX6 OTX2
2 fryns microphthalmia syndrome 28.7 VSX2 SOX2 PAX6 OTX2
3 microphthalmia 28.0 VSX2 SOX2 RAX PAX6 OTX2 HCCS
4 microphthalmia, isolated 4 11.9
5 microphthalmia, syndromic 9 11.3
6 orbital cyst 10.2 RAX HCCS
7 congenital aphakia 10.2 RAX PAX6
8 axenfeld-rieger syndrome, type 1 10.2 RAX PAX6
9 axenfeld-rieger syndrome 10.2 RAX PAX6
10 lens subluxation 10.0 VSX2 PAX6
11 iris disease 10.0 VSX2 PAX6
12 sclerocornea 10.0 RAX PAX6 HCCS
13 vitreous disease 9.9 PAX6 OTX2
14 germ cell and embryonal cancer 9.8 SOX2 PAX6
15 small intestine adenocarcinoma 9.8 HRAS CPS1
16 orofacial cleft 12 9.7 SNCA HRAS
17 episodic kinesigenic dyskinesia 2 9.7 SNCA HRAS
18 peters-plus syndrome 9.7 VSX2 SOX2 PAX6
19 persistent hyperplastic primary vitreous 9.7 VSX2 PAX6 OTX2
20 amblyopia 9.7 PAX6 OTX2
21 septooptic dysplasia 9.6 SOX2 PAX6 OTX2
22 small intestine cancer 9.6 HRAS CPS1
23 hypopituitarism 9.6 SOX2 PAX6 OTX2
24 fundus dystrophy 9.5 VSX2 PAX6 OTX2
25 colobomatous microphthalmia 9.4 VSX2 RAX PAX6 OTX2
26 uveal disease 9.4 PAX6 HRAS
27 aniridia 1 9.3 VSX2 SOX2 PAX6 OTX2
28 macular degeneration, age-related, 1 9.2 VSX2 SOX2 PAX6 OTX2
29 cataract 9.2 VSX2 SOX2 PAX6 OTX2
30 coloboma of macula 9.0 VSX2 SOX2 RAX PAX6 OTX2
31 eye disease 9.0 VSX2 PAX6 OTX2 HRAS
32 medulloblastoma 8.8 SOX2 PAX6 OTX2 HRAS
33 retinitis pigmentosa 8.2 VSX2 SOX2 SNCA PAX6 OTX2 HRAS

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:

31
# Description HPO Frequency HPO Source Accession
1 microphthalmia 31 HP:0000568
2 anophthalmia 31 HP:0000528
3 sclerocornea 31 HP:0000647
4 ankyloblepharon 31 HP:0009755

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
microphthalmia
sclerocornea
ankyloblepharon
anophthalmia, clinical

Clinical features from OMIM:

611038

MGI Mouse Phenotypes related to Microphthalmia, Isolated 3:

45 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.04 HCCS OTX2 PAX6 RAX SNCA SOX2
2 mortality/aging MP:0010768 10.02 CPS1 HCCS HRAS OTX2 PAX6 RAX
3 growth/size/body region MP:0005378 9.95 HCCS HRAS OTX2 PAX6 RAX SNCA
4 digestive/alimentary MP:0005381 9.93 HRAS OTX2 PAX6 RAX SNCA SOX2
5 endocrine/exocrine gland MP:0005379 9.91 HRAS OTX2 PAX6 SNCA SOX2 VSX2
6 craniofacial MP:0005382 9.88 HRAS OTX2 PAX6 RAX SOX2
7 nervous system MP:0003631 9.87 HRAS OTX2 PAX6 RAX SNCA SOX2
8 normal MP:0002873 9.7 HCCS HRAS OTX2 PAX6 RAX SNCA
9 no phenotypic analysis MP:0003012 9.65 HRAS RAX SNCA SOX2 VSX2
10 pigmentation MP:0001186 9.26 OTX2 PAX6 SOX2 VSX2
11 taste/olfaction MP:0005394 8.92 OTX2 PAX6 SNCA SOX2

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:

40
Eye, Retina, Small Intestine

Publications for Microphthalmia, Isolated 3

Articles related to Microphthalmia, Isolated 3:

# Title Authors PMID Year
1
Confirmation of RAX gene involvement in human anophthalmia. 56 6
18783408 2008
2
Mutations in the human RAX homeobox gene in a patient with anophthalmia and sclerocornea. 56 6
14662654 2004
3
Microphthalmia and synostotic frontal plagiocephaly: a rare clinical entity with implications for craniofacial reconstruction. 56
15988238 2005
4
Bilateral anophthalmia and esophageal atresia: report of a new patient and review of the literature. 56
15389708 2005
5
Microphthalmia/Anophthalmia/Coloboma Spectrum 6
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. 56
12543751 2003
7
Gene mapping in an anophthalmic pedigree of a consanguineous Pakistani family opened new horizons for research. 61
27785411 2016
8
Isolated "clinical anophthalmia" in an extensively affected Arab kindred. 61
3378363 1988

Variations for Microphthalmia, Isolated 3

ClinVar genetic disease variations for Microphthalmia, Isolated 3:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RAX NM_013435.3(RAX):c.439C>T (p.Gln147Ter)SNV Pathogenic 7635 rs104894663 18:56939697-56939697 18:59272465-59272465
2 RAX NM_013435.3(RAX):c.575G>A (p.Arg192Gln)SNV Pathogenic 7636 rs121909127 18:56936702-56936702 18:59269470-59269470
3 RAX NM_013435.3(RAX):c.664del (p.Ser222fs)deletion Pathogenic 7637 18:56936613-56936613 18:59269381-59269381
4 RAX NM_013435.3(RAX):c.909C>G (p.Tyr303Ter)SNV Pathogenic 7638 rs121909128 18:56936368-56936368 18:59269136-59269136
5 RAX NM_013435.3(RAX):c.697G>T (p.Gly233Trp)SNV Uncertain significance 645205 18:56936580-56936580 18:59269348-59269348

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

73
# 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

Cellular components related to Microphthalmia, Isolated 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.56 VSX2 SOX2 SNCA RAX PAX6 OTX2
2 nuclear chromatin GO:0000790 9.02 VSX2 SOX2 RAX PAX6 OTX2

Biological processes related to Microphthalmia, Isolated 3 according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 9.88 VSX2 SOX2 RAX PAX6 OTX2
2 positive regulation of transcription by RNA polymerase II GO:0045944 9.65 SOX2 RAX PAX6 OTX2 HRAS
3 multicellular organism development GO:0007275 9.55 VSX2 SOX2 RAX PAX6 OTX2
4 camera-type eye development GO:0043010 9.54 RAX PAX6
5 visual perception GO:0007601 9.54 VSX2 RAX PAX6
6 negative regulation of epithelial cell proliferation GO:0050680 9.52 SOX2 PAX6
7 negative regulation of neuron differentiation GO:0045665 9.51 SOX2 PAX6
8 cell fate commitment GO:0045165 9.49 SOX2 PAX6
9 eye development GO:0001654 9.46 SOX2 PAX6
10 cellular response to fibroblast growth factor stimulus GO:0044344 9.43 SNCA CPS1
11 pituitary gland development GO:0021983 9.4 SOX2 PAX6
12 regulation of long-term neuronal synaptic plasticity GO:0048169 9.32 SNCA HRAS
13 animal organ morphogenesis GO:0009887 9.13 PAX6 HRAS HCCS
14 forebrain development GO:0030900 8.8 SOX2 PAX6 OTX2

Molecular functions related to Microphthalmia, Isolated 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.55 VSX2 SOX2 RAX PAX6 OTX2
2 transcription regulatory region DNA binding GO:0044212 9.43 SOX2 SNCA PAX6
3 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.26 SOX2 RAX PAX6 OTX2
4 sequence-specific DNA binding GO:0043565 9.02 VSX2 SOX2 RAX PAX6 OTX2

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 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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