MCID: MCR271
MIFTS: 17

Microphthalmia, Isolated, with Coloboma 10

Categories: 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 75
Microphthalmia, Isolated, with Coloboma, Type 10 40
Microphthalmia, Isolated, with Coloboma, 10 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
microphthalmia, isolated, with coloboma 10:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 616428

Summaries for Microphthalmia, Isolated, with Coloboma 10

UniProtKB/Swiss-Prot : 75 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 retina and eye, and related phenotypes are chorioretinal coloboma and microphthalmia

Description from OMIM: 616428

Related Diseases for Microphthalmia, Isolated, with Coloboma 10

Symptoms & Phenotypes for Microphthalmia, Isolated, with Coloboma 10

Symptoms via clinical synopsis from OMIM:

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


Clinical features from OMIM:

616428

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

32
# Description HPO Frequency HPO Source Accession
1 chorioretinal coloboma 32 HP:0000567
2 microphthalmia 32 HP:0000568
3 iris coloboma 32 HP:0000612
4 microcoria 32 occasional (7.5%) HP:0025492

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:

41
Retina, Eye

Publications for Microphthalmia, Isolated, with Coloboma 10

Variations for Microphthalmia, Isolated, with Coloboma 10

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

75
# Symbol AA change Variation ID SNP ID
1 RBP4 p.Ala73Thr VAR_073856 rs794726862
2 RBP4 p.Ala75Thr VAR_073857 rs794726861

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 RBP4 NM_006744.3(RBP4): c.223G> A (p.Ala75Thr) single nucleotide variant Likely pathogenic rs794726861 GRCh37 Chromosome 10, 95360449: 95360449
2 RBP4 NM_006744.3(RBP4): c.223G> A (p.Ala75Thr) single nucleotide variant Likely pathogenic rs794726861 GRCh38 Chromosome 10, 93600692: 93600692
3 RBP4 NM_006744.3(RBP4): c.217G> A (p.Ala73Thr) single nucleotide variant Pathogenic rs794726862 GRCh37 Chromosome 10, 95360455: 95360455
4 RBP4 NM_006744.3(RBP4): c.217G> A (p.Ala73Thr) single nucleotide variant Pathogenic rs794726862 GRCh38 Chromosome 10, 93600698: 93600698

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 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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