MCID: RRC027
MIFTS: 8

Rare Corneal Disorder

Categories: Eye diseases, Rare diseases

Aliases & Classifications for Rare Corneal Disorder

MalaCards integrated aliases for Rare Corneal Disorder:

Name: Rare Corneal Disorder 58

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases
Orphanet: 58  
Rare eye diseases


External Ids:

Orphanet 58 ORPHA519282

Summaries for Rare Corneal Disorder

MalaCards based summary : Rare Corneal Disorder is related to corneal dystrophy, posterior polymorphous, 1. An important gene associated with Rare Corneal Disorder is OVOL2 (Ovo Like Zinc Finger 2). Affiliated tissues include eye and endothelial.

Related Diseases for Rare Corneal Disorder

Diseases in the Corneal Disease family:

Rare Inflammatory/autoimmune Corneal Disorder Rare Corneal Disorder

Diseases related to Rare Corneal Disorder via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 corneal dystrophy, posterior polymorphous, 1 11.0

Symptoms & Phenotypes for Rare Corneal Disorder

Drugs & Therapeutics for Rare Corneal Disorder

Search Clinical Trials , NIH Clinical Center for Rare Corneal Disorder

Genetic Tests for Rare Corneal Disorder

Anatomical Context for Rare Corneal Disorder

MalaCards organs/tissues related to Rare Corneal Disorder:

40
Eye, Endothelial

Publications for Rare Corneal Disorder

Articles related to Rare Corneal Disorder:

# Title Authors PMID Year
1
Pellucid marginal degeneration: Detection, discrimination from other corneal ectatic disorders and progression. 61
30473322 2019
2
Crystalline subtype of pre-descemetic corneal dystrophy. 61
25279130 2014
3
Novel SLC4A11 mutations in patients with recessive congenital hereditary endothelial dystrophy (CHED2). Mutation in brief #958. Online. 61
17397048 2007
4
Bilateral circumscribed posterior keratoconus. 61
10547973 1999
5
Posterior keratoconus. 61
697625 1978

Variations for Rare Corneal Disorder

Expression for Rare Corneal Disorder

Search GEO for disease gene expression data for Rare Corneal Disorder.

Pathways for Rare Corneal Disorder

GO Terms for Rare Corneal Disorder

Sources for Rare Corneal Disorder

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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