MCID: CLB018
MIFTS: 17

Coloboma of Eyelid

Categories: Eye diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Coloboma of Eyelid

MalaCards integrated aliases for Coloboma of Eyelid:

Name: Coloboma of Eyelid 58

Classifications:

Orphanet: 58  
Rare eye diseases
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 Q10.3
UMLS via Orphanet 71 C0521573
Orphanet 58 ORPHA98946

Summaries for Coloboma of Eyelid

MalaCards based summary : Coloboma of Eyelid is related to coloboma of macula and nystagmus 7, congenital, autosomal dominant. An important gene associated with Coloboma of Eyelid is ABCB6 (ATP Binding Cassette Subfamily B Member 6 (Langereis Blood Group)), and among its related pathways/superpathways are Mesodermal Commitment Pathway and Ectoderm Differentiation. Affiliated tissues include eye, and related phenotype is Decreased human papilloma virus 16 (HPV16) pseudovirus infection.

Related Diseases for Coloboma of Eyelid

Graphical network of the top 20 diseases related to Coloboma of Eyelid:



Diseases related to Coloboma of Eyelid

Symptoms & Phenotypes for Coloboma of Eyelid

GenomeRNAi Phenotypes related to Coloboma of Eyelid according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased human papilloma virus 16 (HPV16) pseudovirus infection GR00306-A 8.8 ABCB6 PAX6 SALL2

Drugs & Therapeutics for Coloboma of Eyelid

Search Clinical Trials , NIH Clinical Center for Coloboma of Eyelid

Genetic Tests for Coloboma of Eyelid

Anatomical Context for Coloboma of Eyelid

MalaCards organs/tissues related to Coloboma of Eyelid:

40
Eye

Publications for Coloboma of Eyelid

Articles related to Coloboma of Eyelid:

# Title Authors PMID Year
1
Congenital Bilateral Coloboma of Upper Eyelid. 61
29336427 2016
2
Coloboma of eyelid and harelip. A case report. 61
4981563 1969
3
Congenital coloboma of eyelid. 61
25259367 1901

Variations for Coloboma of Eyelid

Expression for Coloboma of Eyelid

Search GEO for disease gene expression data for Coloboma of Eyelid.

Pathways for Coloboma of Eyelid

Pathways related to Coloboma of Eyelid according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.64 PAX6 FZD5
2 11.11 PAX6 FZD5
3 10.78 PAX6 FZD5

GO Terms for Coloboma of Eyelid

Biological processes related to Coloboma of Eyelid according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 9.33 SALL2 PAX6 FZD5
2 brain development GO:0007420 9.26 PAX6 ABCB6
3 eye development GO:0001654 8.96 SALL2 PAX6
4 embryonic camera-type eye morphogenesis GO:0048596 8.62 PAX6 FZD5

Molecular functions related to Coloboma of Eyelid according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ubiquitin protein ligase binding GO:0031625 8.62 PAX6 FZD5

Sources for Coloboma of Eyelid

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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