MCID: CNG433
MIFTS: 15

Congenital Cornea Plana

Categories: Eye diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Congenital Cornea Plana

MalaCards integrated aliases for Congenital Cornea Plana:

Name: Congenital Cornea Plana 58 6

Characteristics:

Orphanet epidemiological data:

58
congenital cornea plana
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare eye diseases
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 Q13.4
Orphanet 58 ORPHA53691

Summaries for Congenital Cornea Plana

MalaCards based summary : Congenital Cornea Plana is related to cornea plana and cornea plana 1, autosomal dominant. An important gene associated with Congenital Cornea Plana is SIX6 (SIX Homeobox 6). Affiliated tissues include eye and endothelial, and related phenotype is vision/eye.

Related Diseases for Congenital Cornea Plana

Diseases in the Cornea Plana family:

Cornea Plana 1, Autosomal Dominant Cornea Plana 2, Autosomal Recessive
Congenital Cornea Plana

Diseases related to Congenital Cornea Plana via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 cornea plana 29.4 SIX6 KERA
2 cornea plana 1, autosomal dominant 10.1
3 cornea plana 2, autosomal recessive 10.1

Symptoms & Phenotypes for Congenital Cornea Plana

MGI Mouse Phenotypes related to Congenital Cornea Plana:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 8.62 KERA SIX6

Drugs & Therapeutics for Congenital Cornea Plana

Search Clinical Trials , NIH Clinical Center for Congenital Cornea Plana

Genetic Tests for Congenital Cornea Plana

Anatomical Context for Congenital Cornea Plana

MalaCards organs/tissues related to Congenital Cornea Plana:

40
Eye, Endothelial

Publications for Congenital Cornea Plana

Articles related to Congenital Cornea Plana:

# Title Authors PMID Year
1
Corneal endothelial findings in a Czech patient with compound heterozygous mutations in KERA. 6
23834557 2014
2
A novel KERA mutation associated with autosomal recessive cornea plana. 6
15370545 2004
3
Database for the mutations of the Finnish disease heritage. 6
11754099 2002
4
A novel keratocan mutation causing autosomal recessive cornea plana. 6
11726611 2001
5
Mutations in KERA, encoding keratocan, cause cornea plana. 6
10802664 2000
6
Congenital cornea plana in Finland. 61
4747808 1973
7
[Congenital cornea plana]. 61
5961260 1966
8
PHOTOKERATOMETRY AND REFRACTION ANALYSIS IN CONGENITAL CORNEA PLANA. 61
14099401 1963
9
A case of congenital cornea plana. 61
13906554 1962

Variations for Congenital Cornea Plana

ClinVar genetic disease variations for Congenital Cornea Plana:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SIX6 NM_007374.3(SIX6):c.-227_572+235deldeletion Pathogenic 637953 14:60975890-60976923 14:60509168-60510201

Expression for Congenital Cornea Plana

Search GEO for disease gene expression data for Congenital Cornea Plana.

Pathways for Congenital Cornea Plana

GO Terms for Congenital Cornea Plana

Biological processes related to Congenital Cornea Plana according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 8.62 SIX6 KERA

Sources for Congenital Cornea Plana

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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