CNA1
MCID: CRN279
MIFTS: 16

Cornea Plana 1, Autosomal Dominant (CNA1)

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

Aliases & Classifications for Cornea Plana 1, Autosomal Dominant

MalaCards integrated aliases for Cornea Plana 1, Autosomal Dominant:

Name: Cornea Plana 1, Autosomal Dominant 58 30
Cna1 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant form
also a recessive form


HPO:

33
cornea plana 1, autosomal dominant:
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 121400
MedGen 43 C1852557
SNOMED-CT via HPO 70 204145006 258211005 263681008

Summaries for Cornea Plana 1, Autosomal Dominant

OMIM : 58 Cornea plana is clinically characterized by reduced corneal curvature leading in most cases to hyperopia, hazy corneal limbus, and arcus lipoides at an early age. CNA1, an autosomal dominant form of the disorder, is mild (summary by Tahvanainen et al., 1996). (121400)

MalaCards based summary : Cornea Plana 1, Autosomal Dominant, also known as cna1, is related to cornea plana 2, autosomal recessive and perrault syndrome 1. An important gene associated with Cornea Plana 1, Autosomal Dominant is CNA1 (Cornea Plana 1 (Autosomal Dominant)). Related phenotype is flat cornea.

Related Diseases for Cornea Plana 1, Autosomal Dominant

Diseases in the Cornea Plana family:

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

Diseases related to Cornea Plana 1, Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 cornea plana 2, autosomal recessive 11.1
2 perrault syndrome 1 11.1
3 theca steroid-producing cell malignant tumor of ovary, not further specified 10.3

Symptoms & Phenotypes for Cornea Plana 1, Autosomal Dominant

Human phenotypes related to Cornea Plana 1, Autosomal Dominant:

33
# Description HPO Frequency HPO Source Accession
1 flat cornea 33 HP:0007720

Symptoms via clinical synopsis from OMIM:

58
Eyes:
congenital cornea plana

Clinical features from OMIM:

121400

Drugs & Therapeutics for Cornea Plana 1, Autosomal Dominant

Search Clinical Trials , NIH Clinical Center for Cornea Plana 1, Autosomal Dominant

Genetic Tests for Cornea Plana 1, Autosomal Dominant

Genetic tests related to Cornea Plana 1, Autosomal Dominant:

# Genetic test Affiliating Genes
1 Cornea Plana 1, Autosomal Dominant 30

Anatomical Context for Cornea Plana 1, Autosomal Dominant

Publications for Cornea Plana 1, Autosomal Dominant

Articles related to Cornea Plana 1, Autosomal Dominant:

# Title Authors Year
1
The CNA1 histone of the ciliate Tetrahymena thermophila is essential for chromosome segregation in the germline micronucleus. ( 16251352 )
2006
2
Expression of the yeast calcineurin subunits CNA1 and CNA2 during growth and hyper-osmotic stress. ( 12725927 )
2003

Variations for Cornea Plana 1, Autosomal Dominant

Expression for Cornea Plana 1, Autosomal Dominant

Search GEO for disease gene expression data for Cornea Plana 1, Autosomal Dominant.

Pathways for Cornea Plana 1, Autosomal Dominant

GO Terms for Cornea Plana 1, Autosomal Dominant

Sources for Cornea Plana 1, Autosomal Dominant

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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