MCOPCB10
MCID: MCR271
MIFTS: 19

Microphthalmia, Isolated, with Coloboma 10 (MCOPCB10)

Categories: Eye diseases, Genetic diseases

Aliases & Classifications for Microphthalmia, Isolated, with Coloboma 10

MalaCards integrated aliases for Microphthalmia, Isolated, with Coloboma 10:

Name: Microphthalmia, Isolated, with Coloboma 10 57 29 6
Mcopcb10 57 72
Microphthalmia, Isolated, with Coloboma, Type 10 39
Microphthalmia, Isolated, with Coloboma, 10 72

Characteristics:

OMIM®:

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

Miscellaneous:
increased penetrance of phenotype when there is maternal transmission of the mutant allele


HPO:

31
microphthalmia, isolated, with coloboma 10:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 616428
OMIM Phenotypic Series 57 PS300345

Summaries for Microphthalmia, Isolated, with Coloboma 10

UniProtKB/Swiss-Prot : 72 Microphthalmia, isolated, with coloboma, 10: 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 10, is also known as mcopcb10. An important gene associated with Microphthalmia, Isolated, with Coloboma 10 is RBP4 (Retinol Binding Protein 4). Affiliated tissues include eye and retina, and related phenotypes are microcoria and iris coloboma

More information from OMIM: 616428 PS300345

Related Diseases for Microphthalmia, Isolated, with Coloboma 10

Symptoms & Phenotypes for Microphthalmia, Isolated, with Coloboma 10

Human phenotypes related to Microphthalmia, Isolated, with Coloboma 10:

31
# Description HPO Frequency HPO Source Accession
1 microcoria 31 occasional (7.5%) HP:0025492
2 iris coloboma 31 HP:0000612
3 anophthalmia 31 HP:0000528
4 chorioretinal coloboma 31 HP:0000567
5 microphthalmia 31 HP:0000568

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
iris coloboma
chorioretinal coloboma
microphthalmia
clinical anophthalmia
microcoria (rare)
more
Laboratory Abnormalities:
low serum vitamin a levels
reduced plasma retinol fluorescence

Clinical features from OMIM®:

616428 (Updated 05-Apr-2021)

Drugs & Therapeutics for Microphthalmia, Isolated, with Coloboma 10

Search Clinical Trials , NIH Clinical Center for Microphthalmia, Isolated, with Coloboma 10

Genetic Tests for Microphthalmia, Isolated, with Coloboma 10

Genetic tests related to Microphthalmia, Isolated, with Coloboma 10:

# Genetic test Affiliating Genes
1 Microphthalmia, Isolated, with Coloboma 10 29 RBP4

Anatomical Context for Microphthalmia, Isolated, with Coloboma 10

MalaCards organs/tissues related to Microphthalmia, Isolated, with Coloboma 10:

40
Eye, Retina

Publications for Microphthalmia, Isolated, with Coloboma 10

Articles related to Microphthalmia, Isolated, with Coloboma 10:

# Title Authors PMID Year
1
Biochemical Basis for Dominant Inheritance, Variable Penetrance, and Maternal Effects in RBP4 Congenital Eye Disease. 57 6
25910211 2015

Variations for Microphthalmia, Isolated, with Coloboma 10

ClinVar genetic disease variations for Microphthalmia, Isolated, with Coloboma 10:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RBP4 NM_006744.4(RBP4):c.223G>A (p.Ala75Thr) SNV Pathogenic 192376 rs794726861 GRCh37: 10:95360449-95360449
GRCh38: 10:93600692-93600692
2 RBP4 NM_006744.4(RBP4):c.217G>A (p.Ala73Thr) SNV Pathogenic 192377 rs794726862 GRCh37: 10:95360455-95360455
GRCh38: 10:93600698-93600698
3 RBP4 NM_006744.4(RBP4):c.569-1G>A SNV Likely pathogenic 929566 GRCh37: 10:95351870-95351870
GRCh38: 10:93592113-93592113

UniProtKB/Swiss-Prot genetic disease variations for Microphthalmia, Isolated, with Coloboma 10:

72
# Symbol AA change Variation ID SNP ID
1 RBP4 p.Ala73Thr VAR_073856 rs794726862
2 RBP4 p.Ala75Thr VAR_073857 rs794726861

Expression for Microphthalmia, Isolated, with Coloboma 10

Search GEO for disease gene expression data for Microphthalmia, Isolated, with Coloboma 10.

Pathways for Microphthalmia, Isolated, with Coloboma 10

GO Terms for Microphthalmia, Isolated, with Coloboma 10

Sources for Microphthalmia, Isolated, with Coloboma 10

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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