MCOPCB5
MCID: MCR350
MIFTS: 20

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 73
Microphthalmia with Coloboma 5 57 29 13
Mcopcb5 57 75
Microphthalmia, Isolated, with Coloboma, Type 5 40
Microphthalmia, Isolated, with Coloboma, 5 75
Isolated Colobomatous Microphthalmia 5 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
reduced penetrance


HPO:

32
microphthalmia, isolated, with coloboma 5:
Onset and clinical course variable expressivity incomplete penetrance
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Microphthalmia, Isolated, with Coloboma 5

UniProtKB/Swiss-Prot : 75 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). Affiliated tissues include eye and retina, and related phenotypes are abnormality of vision and chorioretinal coloboma

Description from OMIM: 611638

Related Diseases for Microphthalmia, Isolated, with Coloboma 5

Symptoms & Phenotypes for Microphthalmia, Isolated, with Coloboma 5

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
coloboma of iris
microphthalmia, bilateral
coloboma, chorioretinal
coloboma, uveoretinal


Clinical features from OMIM:

611638

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

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 abnormality of vision 32 frequent (33%) HP:0000504
2 chorioretinal coloboma 32 HP:0000567
3 microphthalmia 32 hallmark (90%) HP:0000568
4 holoprosencephaly 32 occasional (7.5%) HP:0001360
5 iris coloboma 32 hallmark (90%) HP:0000612
6 oral cleft 32 occasional (7.5%) HP:0000202
7 anophthalmia 32 occasional (7.5%) HP:0000528
8 bilateral microphthalmos 32 HP:0007633

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:

41
Eye, Retina

Publications for Microphthalmia, Isolated, with Coloboma 5

Variations for Microphthalmia, Isolated, with Coloboma 5

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SHH NM_000193.3(SHH): c.1147G> A (p.Ala383Thr) single nucleotide variant Uncertain significance rs137853341 GRCh37 Chromosome 7, 155595836: 155595836
2 SHH NM_000193.3(SHH): c.1147G> A (p.Ala383Thr) single nucleotide variant Uncertain significance rs137853341 GRCh38 Chromosome 7, 155803142: 155803142
3 SHH SHH, 24-BP DEL, NT1353 deletion Pathogenic

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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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