MCID: MCR210
MIFTS: 18

Microphthalmia, Isolated, with Coloboma 7

Categories: 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 73
Mcopcb7 57 75
Microphthalmia, Isolated, with Coloboma, Type 7 40
Microphthalmia, Isolated, with Coloboma, 7 75
Isolated Colobomatous Microphthalmia 7 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
microphthalmia, isolated, with coloboma 7:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 614497
MedGen 42 C3281027
UMLS 73 C3281027

Summaries for Microphthalmia, Isolated, with Coloboma 7

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

Description from OMIM: 614497

Related Diseases for Microphthalmia, Isolated, with Coloboma 7

Symptoms & Phenotypes for Microphthalmia, Isolated, with Coloboma 7

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
coloboma, iris
coloboma, chorioretinal
microphthalmia (in some patients)


Clinical features from OMIM:

614497

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

32
# Description HPO Frequency HPO Source Accession
1 microphthalmia 32 occasional (7.5%) HP:0000568
2 coloboma 32 HP:0000589

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:

41
Retina, Eye

Publications for Microphthalmia, Isolated, with Coloboma 7

Variations for Microphthalmia, Isolated, with Coloboma 7

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

75
# Symbol AA change Variation ID SNP ID
1 ABCB6 p.Leu811Val VAR_067395 rs387906910

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ABCB6 NM_005689.3(ABCB6): c.2431C> G (p.Leu811Val) single nucleotide variant Pathogenic rs387906910 GRCh37 Chromosome 2, 220074758: 220074758
2 ABCB6 NM_005689.3(ABCB6): c.2431C> G (p.Leu811Val) single nucleotide variant Pathogenic rs387906910 GRCh38 Chromosome 2, 219210036: 219210036
3 ABCB6 NM_005689.3(ABCB6): c.169G> A (p.Ala57Thr) single nucleotide variant Pathogenic rs387906911 GRCh37 Chromosome 2, 220083227: 220083227
4 ABCB6 NM_005689.3(ABCB6): c.169G> A (p.Ala57Thr) single nucleotide variant Pathogenic rs387906911 GRCh38 Chromosome 2, 219218505: 219218505

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

Cellular components related to Microphthalmia, Isolated, with Coloboma 7 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum GO:0005783 8.62 ABCB6 ZFAND2B

Sources for Microphthalmia, Isolated, with Coloboma 7

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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