MCOPCB9
MCID: MCR214
MIFTS: 20

Microphthalmia, Isolated, with Coloboma 9 (MCOPCB9)

Categories: Eye diseases, Genetic diseases

Aliases & Classifications for Microphthalmia, Isolated, with Coloboma 9

MalaCards integrated aliases for Microphthalmia, Isolated, with Coloboma 9:

Name: Microphthalmia, Isolated, with Coloboma 9 58 30 13 6 74
Mcopcb9 58 76
Microphthalmia, Isolated, with Coloboma, Type 9 41
Microphthalmia, Isolated, with Coloboma, 9 76
Isolated Colobomatous Microphthalmia 9 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
microphthalmia, isolated, with coloboma 9:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Microphthalmia, Isolated, with Coloboma 9

UniProtKB/Swiss-Prot : 76 Microphthalmia, isolated, with coloboma, 9: 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. Ocular colobomas are a set of malformations resulting from abnormal morphogenesis of the optic cup and stalk, and the fusion of the fetal fissure (optic fissure).

MalaCards based summary : Microphthalmia, Isolated, with Coloboma 9, is also known as mcopcb9. An important gene associated with Microphthalmia, Isolated, with Coloboma 9 is TENM3 (Teneurin Transmembrane Protein 3). Affiliated tissues include eye and retina, and related phenotypes are reduced visual acuity and microphthalmia

Description from OMIM: 615145

Related Diseases for Microphthalmia, Isolated, with Coloboma 9

Symptoms & Phenotypes for Microphthalmia, Isolated, with Coloboma 9

Human phenotypes related to Microphthalmia, Isolated, with Coloboma 9:

33 (show all 7)
# Description HPO Frequency HPO Source Accession
1 reduced visual acuity 33 HP:0007663
2 microphthalmia 33 HP:0000568
3 retinal detachment 33 HP:0000541
4 iris coloboma 33 HP:0000612
5 microcornea 33 HP:0000482
6 esotropia 33 HP:0000565
7 pendular nystagmus 33 HP:0012043

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
microphthalmia
iris coloboma
microcornea
esotropia
pendular nystagmus
more

Clinical features from OMIM:

615145

Drugs & Therapeutics for Microphthalmia, Isolated, with Coloboma 9

Search Clinical Trials , NIH Clinical Center for Microphthalmia, Isolated, with Coloboma 9

Genetic Tests for Microphthalmia, Isolated, with Coloboma 9

Genetic tests related to Microphthalmia, Isolated, with Coloboma 9:

# Genetic test Affiliating Genes
1 Microphthalmia, Isolated, with Coloboma 9 30 TENM3

Anatomical Context for Microphthalmia, Isolated, with Coloboma 9

MalaCards organs/tissues related to Microphthalmia, Isolated, with Coloboma 9:

42
Eye, Retina

Publications for Microphthalmia, Isolated, with Coloboma 9

Articles related to Microphthalmia, Isolated, with Coloboma 9:

# Title Authors Year
1
Confirmation of TENM3 involvement in autosomal recessive colobomatous microphthalmia. ( 27103084 )
2016
2
Homozygous null mutation in ODZ3 causes microphthalmia in humans. ( 22766609 )
2012

Variations for Microphthalmia, Isolated, with Coloboma 9

ClinVar genetic disease variations for Microphthalmia, Isolated, with Coloboma 9:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TENM3 NM_001080477.3(TENM3): c.2083dup (p.Thr695Asnfs) duplication Pathogenic rs587776950 GRCh37 Chromosome 4, 183609366: 183609366
2 TENM3 NM_001080477.3(TENM3): c.2083dup (p.Thr695Asnfs) duplication Pathogenic rs587776950 GRCh38 Chromosome 4, 182688213: 182688213
3 TENM3 NM_001080477.3(TENM3): c.2968-2A> T single nucleotide variant Pathogenic rs886037853 GRCh38 Chromosome 4, 182736806: 182736806
4 TENM3 NM_001080477.3(TENM3): c.2968-2A> T single nucleotide variant Pathogenic rs886037853 GRCh37 Chromosome 4, 183657959: 183657959
5 TENM3 NM_001080477.3(TENM3): c.7687C> T (p.Arg2563Trp) single nucleotide variant Likely pathogenic rs755000701 GRCh37 Chromosome 4, 183721091: 183721091
6 TENM3 NM_001080477.3(TENM3): c.7687C> T (p.Arg2563Trp) single nucleotide variant Likely pathogenic rs755000701 GRCh38 Chromosome 4, 182799938: 182799938
7 TENM3 NM_001080477.3(TENM3): c.4046C> G (p.Ala1349Gly) single nucleotide variant Likely pathogenic rs1243762658 GRCh37 Chromosome 4, 183675566: 183675566
8 TENM3 NM_001080477.3(TENM3): c.4046C> G (p.Ala1349Gly) single nucleotide variant Likely pathogenic rs1243762658 GRCh38 Chromosome 4, 182754413: 182754413

Expression for Microphthalmia, Isolated, with Coloboma 9

Search GEO for disease gene expression data for Microphthalmia, Isolated, with Coloboma 9.

Pathways for Microphthalmia, Isolated, with Coloboma 9

GO Terms for Microphthalmia, Isolated, with Coloboma 9

Sources for Microphthalmia, Isolated, with Coloboma 9

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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