MCOPCB5
MCID: MCR350
MIFTS: 21

Microphthalmia, Isolated, with Coloboma 5 (MCOPCB5)

Categories: Eye diseases, Genetic diseases

Aliases & Classifications for Microphthalmia, Isolated, with Coloboma 5

MalaCards integrated aliases for Microphthalmia, Isolated, with Coloboma 5:

Name: Microphthalmia, Isolated, with Coloboma 5 57 29 6 70
Microphthalmia with Coloboma 5 57 29 13
Mcopcb5 57 72
Microphthalmia, Isolated, with Coloboma, Type 5 39
Microphthalmia, Isolated, with Coloboma, 5 72
Isolated Colobomatous Microphthalmia 5 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
reduced penetrance


HPO:

31
microphthalmia, isolated, with coloboma 5:
Inheritance autosomal dominant inheritance
Onset and clinical course variable expressivity incomplete penetrance


Classifications:



External Ids:

OMIM® 57 611638
OMIM Phenotypic Series 57 PS300345
MedGen 41 C1968843
UMLS 70 C1968843

Summaries for Microphthalmia, Isolated, with Coloboma 5

UniProtKB/Swiss-Prot : 72 Microphthalmia, isolated, with coloboma, 5: 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 5, is also known as microphthalmia with coloboma 5. An important gene associated with Microphthalmia, Isolated, with Coloboma 5 is SHH (Sonic Hedgehog Signaling Molecule). Affiliated tissues include eye and retina, and related phenotypes are iris coloboma and microphthalmia

More information from OMIM: 611638 PS300345

Related Diseases for Microphthalmia, Isolated, with Coloboma 5

Symptoms & Phenotypes for Microphthalmia, Isolated, with Coloboma 5

Human phenotypes related to Microphthalmia, Isolated, with Coloboma 5:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 iris coloboma 31 hallmark (90%) HP:0000612
2 microphthalmia 31 hallmark (90%) HP:0000568
3 abnormality of vision 31 frequent (33%) HP:0000504
4 anophthalmia 31 occasional (7.5%) HP:0000528
5 holoprosencephaly 31 occasional (7.5%) HP:0001360
6 oral cleft 31 occasional (7.5%) HP:0000202
7 chorioretinal coloboma 31 HP:0000567
8 bilateral microphthalmos 31 HP:0007633

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
coloboma of iris
microphthalmia, bilateral
coloboma, chorioretinal
coloboma, uveoretinal

Clinical features from OMIM®:

611638 (Updated 05-Apr-2021)

Drugs & Therapeutics for Microphthalmia, Isolated, with Coloboma 5

Search Clinical Trials , NIH Clinical Center for Microphthalmia, Isolated, with Coloboma 5

Genetic Tests for Microphthalmia, Isolated, with Coloboma 5

Genetic tests related to Microphthalmia, Isolated, with Coloboma 5:

# Genetic test Affiliating Genes
1 Microphthalmia, Isolated, with Coloboma 5 29 SHH
2 Microphthalmia with Coloboma 5 29

Anatomical Context for Microphthalmia, Isolated, with Coloboma 5

MalaCards organs/tissues related to Microphthalmia, Isolated, with Coloboma 5:

40
Eye, Retina

Publications for Microphthalmia, Isolated, with Coloboma 5

Articles related to Microphthalmia, Isolated, with Coloboma 5:

# Title Authors PMID Year
1
Novel mutation in sonic hedgehog in non-syndromic colobomatous microphthalmia. 57 6
12503095 2003
2
The mutational spectrum of the sonic hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly. 6 57
10556296 1999
3
Sonic hedgehog mutations are an uncommon cause of developmental eye anomalies. 6
20425842 2010

Variations for Microphthalmia, Isolated, with Coloboma 5

ClinVar genetic disease variations for Microphthalmia, Isolated, with Coloboma 5:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SHH SHH, 24-BP DEL, NT1353 Deletion Pathogenic 8892 GRCh37:
GRCh38:
2 SHH NM_000193.4(SHH):c.1102G>T (p.Glu368Ter) SNV Likely pathogenic 666320 rs753315599 GRCh37: 7:155595881-155595881
GRCh38: 7:155803187-155803187
3 SHH NM_000193.4(SHH):c.1147G>A (p.Ala383Thr) SNV Uncertain significance 8886 rs137853341 GRCh37: 7:155595836-155595836
GRCh38: 7:155803142-155803142

Expression for Microphthalmia, Isolated, with Coloboma 5

Search GEO for disease gene expression data for Microphthalmia, Isolated, with Coloboma 5.

Pathways for Microphthalmia, Isolated, with Coloboma 5

GO Terms for Microphthalmia, Isolated, with Coloboma 5

Sources for Microphthalmia, Isolated, with Coloboma 5

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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