MCOPCB9
MCID: MCR214
MIFTS: 24

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 57 29 13 6 70
Microphthalmia, Syndromic 15 57 6
Mcopcb9 57 72
Microphthalmia and/or Coloboma with Developmental Delay 72
Microphthalmia, Isolated, with Coloboma, Type 9 39
Microphthalmia, Isolated, with Coloboma, 9 72
Isolated Colobomatous Microphthalmia 9 72
Microphthalmia, Syndromic, 15 72
Mcops15 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
inter- and intrafamilial phenotypic variability


HPO:

31
microphthalmia, isolated, with coloboma 9:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Microphthalmia, Isolated, with Coloboma 9

UniProtKB/Swiss-Prot : 72 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).
Microphthalmia, syndromic, 15: A form of microphthalmia, a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues (anophthalmia). In many cases, microphthalmia/anophthalmia occurs in association with syndromes that include non-ocular abnormalities. MCOPS15 is characterized by microphthalmia and/or coloboma, with developmental delay in which speech appears to be more severely affected than motor abilities. Additional ocular anomalies that have been observed include ptosis, keyhole-shaped pupils, microcornea, sclerocornea, and anterior segment dysgenesis.

MalaCards based summary : Microphthalmia, Isolated, with Coloboma 9, is also known as microphthalmia, syndromic 15. 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 intellectual disability and ptosis

OMIM® : 57 MCOPCB9 is characterized by isolated microphthalmia and coloboma (Aldahmesh et al., 2012). MCOPS15 is characterized by microphthalmia and/or coloboma, with developmental delay in which speech appears to be more severely affected than motor abilities. Additional ocular anomalies that have been observed include ptosis, keyhole-shaped pupils, microcornea, sclerocornea, and anterior segment dysgenesis (Chassaing et al., 2016; Stephen et al., 2018; Singh et al., 2019). (615145) (Updated 20-May-2021)

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:

31 (show all 18)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 ptosis 31 HP:0000508
3 global developmental delay 31 HP:0001263
4 hypertelorism 31 HP:0000316
5 macrotia 31 HP:0000400
6 delayed speech and language development 31 HP:0000750
7 low-set ears 31 HP:0000369
8 retinal detachment 31 HP:0000541
9 iris coloboma 31 HP:0000612
10 microphthalmia 31 HP:0000568
11 long philtrum 31 HP:0000343
12 reduced visual acuity 31 HP:0007663
13 sclerocornea 31 HP:0000647
14 microcornea 31 HP:0000482
15 esotropia 31 HP:0000565
16 narrow palpebral fissure 31 HP:0045025
17 pendular nystagmus 31 HP:0012043
18 ocular anterior segment dysgenesis 31 HP:0007700

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
intellectual disability
global developmental delay
speech delay

Head And Neck Ears:
low-set ears
large ears
flared pinnae

Head And Neck Eyes:
hypertelorism
iris coloboma
microphthalmia
sclerocornea
microcornea
more
Head And Neck Face:
long philtrum

Clinical features from OMIM®:

615145 (Updated 20-May-2021)

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 29 TENM3

Anatomical Context for Microphthalmia, Isolated, with Coloboma 9

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

40
Eye, Retina

Publications for Microphthalmia, Isolated, with Coloboma 9

Articles related to Microphthalmia, Isolated, with Coloboma 9:

# Title Authors PMID Year
1
Sequence variations in TENM3 gene causing eye anomalies with intellectual disability: Expanding the phenotypic spectrum. 6 57
29753094 2019
2
Novel truncating mutation in TENM3 in siblings with motor developmental delay, ocular coloboma, oval cornea, without microphthalmia. 57 6
30513139 2018
3
Confirmation of TENM3 involvement in autosomal recessive colobomatous microphthalmia. 6 57
27103084 2016
4
Homozygous null mutation in ODZ3 causes microphthalmia in humans. 57 6
22766609 2012

Variations for Microphthalmia, Isolated, with Coloboma 9

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

6 (show all 11)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TENM3 NM_001080477.4(TENM3):c.1857T>A (p.Cys619Ter) SNV Pathogenic 638273 rs1579099615 GRCh37: 4:183602989-183602989
GRCh38: 4:182681836-182681836
2 TENM3 NM_001080477.4(TENM3):c.2083dup (p.Thr695fs) Duplication Pathogenic 41420 rs587776950 GRCh37: 4:183609365-183609366
GRCh38: 4:182688212-182688213
3 TENM3 NM_001080477.4(TENM3):c.1558C>T (p.Arg520Ter) SNV Pathogenic 638054 rs919662130 GRCh37: 4:183601421-183601421
GRCh38: 4:182680268-182680268
4 TENM3 NM_001080477.4(TENM3):c.4046C>G (p.Ala1349Gly) SNV Pathogenic 487483 rs1243762658 GRCh37: 4:183675566-183675566
GRCh38: 4:182754413-182754413
5 TENM3 NM_001080477.4(TENM3):c.7687C>T (p.Arg2563Trp) SNV Pathogenic 487482 rs755000701 GRCh37: 4:183721091-183721091
GRCh38: 4:182799938-182799938
6 TENM3 NM_001080477.4(TENM3):c.5254C>T (p.Arg1752Ter) SNV Pathogenic 1031796 GRCh37: 4:183696256-183696256
GRCh38: 4:182775103-182775103
7 TENM3 NM_001080477.4(TENM3):c.2968-2A>T SNV Pathogenic 253150 rs886037853 GRCh37: 4:183657959-183657959
GRCh38: 4:182736806-182736806
8 TENM3 NM_001080477.4(TENM3):c.4046C>G (p.Ala1349Gly) SNV Likely pathogenic 487483 rs1243762658 GRCh37: 4:183675566-183675566
GRCh38: 4:182754413-182754413
9 TENM3 NM_001080477.4(TENM3):c.7687C>T (p.Arg2563Trp) SNV Likely pathogenic 487482 rs755000701 GRCh37: 4:183721091-183721091
GRCh38: 4:182799938-182799938
10 TENM3 NM_001080477.4(TENM3):c.8053G>A (p.Ala2685Thr) SNV Uncertain significance 1031043 GRCh37: 4:183721457-183721457
GRCh38: 4:182800304-182800304
11 TENM3 NM_001080477.4(TENM3):c.4925C>T (p.Thr1642Met) SNV Uncertain significance 1031795 GRCh37: 4:183694657-183694657
GRCh38: 4:182773504-182773504

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
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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