MCOPCB7
MCID: MCR210
MIFTS: 19

Microphthalmia, Isolated, with Coloboma 7 (MCOPCB7)

Categories: Eye diseases, Genetic diseases

Aliases & Classifications for Microphthalmia, Isolated, with Coloboma 7

MalaCards integrated aliases for Microphthalmia, Isolated, with Coloboma 7:

Name: Microphthalmia, Isolated, with Coloboma 7 57 29 13 6 70
Mcopcb7 57 72
Microphthalmia, Isolated, with Coloboma, Type 7 39
Microphthalmia, Isolated, with Coloboma, 7 72
Isolated Colobomatous Microphthalmia 7 72

Characteristics:

OMIM®:

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


HPO:

31
microphthalmia, isolated, with coloboma 7:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 614497
OMIM Phenotypic Series 57 PS300345
MedGen 41 C3281027
UMLS 70 C3281027

Summaries for Microphthalmia, Isolated, with Coloboma 7

UniProtKB/Swiss-Prot : 72 Microphthalmia, isolated, with coloboma, 7: 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 7, is also known as mcopcb7. An important gene associated with Microphthalmia, Isolated, with Coloboma 7 is ABCB6 (ATP Binding Cassette Subfamily B Member 6 (Langereis Blood Group)). Affiliated tissues include eye and retina, and related phenotypes are microphthalmia and coloboma

More information from OMIM: 614497 PS300345

Related Diseases for Microphthalmia, Isolated, with Coloboma 7

Symptoms & Phenotypes for Microphthalmia, Isolated, with Coloboma 7

Human phenotypes related to Microphthalmia, Isolated, with Coloboma 7:

31
# Description HPO Frequency HPO Source Accession
1 microphthalmia 31 occasional (7.5%) HP:0000568
2 coloboma 31 HP:0000589

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
microphthalmia (in some patients)
coloboma, chorioretinal
coloboma, iris

Clinical features from OMIM®:

614497 (Updated 05-Apr-2021)

Drugs & Therapeutics for Microphthalmia, Isolated, with Coloboma 7

Search Clinical Trials , NIH Clinical Center for Microphthalmia, Isolated, with Coloboma 7

Genetic Tests for Microphthalmia, Isolated, with Coloboma 7

Genetic tests related to Microphthalmia, Isolated, with Coloboma 7:

# Genetic test Affiliating Genes
1 Microphthalmia, Isolated, with Coloboma 7 29 ABCB6

Anatomical Context for Microphthalmia, Isolated, with Coloboma 7

MalaCards organs/tissues related to Microphthalmia, Isolated, with Coloboma 7:

40
Eye, Retina

Publications for Microphthalmia, Isolated, with Coloboma 7

Articles related to Microphthalmia, Isolated, with Coloboma 7:

# Title Authors PMID Year
1
ABCB6 mutations cause ocular coloboma. 6 57
22226084 2012
2
[Linkage analysis of a Chinese family with autosomal dominant congenital retinaochoroidal coloboma]. 57 6
19504436 2009

Variations for Microphthalmia, Isolated, with Coloboma 7

ClinVar genetic disease variations for Microphthalmia, Isolated, with Coloboma 7:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ABCB6 NM_005689.4(ABCB6):c.2431C>G (p.Leu811Val) SNV Pathogenic 30482 rs387906910 GRCh37: 2:220074758-220074758
GRCh38: 2:219210036-219210036
2 ABCB6 NM_005689.4(ABCB6):c.169G>A (p.Ala57Thr) SNV Pathogenic 30483 rs387906911 GRCh37: 2:220083227-220083227
GRCh38: 2:219218505-219218505
3 ABCB6 NM_005689.4(ABCB6):c.575G>A (p.Arg192Gln) SNV Uncertain significance 68473 rs150221689 GRCh37: 2:220082504-220082504
GRCh38: 2:219217782-219217782
4 ABCB6 NM_005689.4(ABCB6):c.2000G>C (p.Gly667Ala) SNV Uncertain significance 916022 GRCh37: 2:220075799-220075799
GRCh38: 2:219211077-219211077

UniProtKB/Swiss-Prot genetic disease variations for Microphthalmia, Isolated, with Coloboma 7:

72
# Symbol AA change Variation ID SNP ID
1 ABCB6 p.Leu811Val VAR_067395 rs387906910

Expression for Microphthalmia, Isolated, with Coloboma 7

Search GEO for disease gene expression data for Microphthalmia, Isolated, with Coloboma 7.

Pathways for Microphthalmia, Isolated, with Coloboma 7

GO Terms for Microphthalmia, Isolated, with Coloboma 7

Sources for Microphthalmia, Isolated, with Coloboma 7

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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