CNA1
MCID: CRN279
MIFTS: 17

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 57 29
Cna1 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant form
also a recessive form


HPO:

32
cornea plana 1, autosomal dominant:
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 121400
MedGen 42 C1852557
SNOMED-CT via HPO 69 263681008 258211005 204145006

Summaries for Cornea Plana 1, Autosomal Dominant

OMIM : 57 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)). Affiliated tissues include eye, and 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

Symptoms & Phenotypes for Cornea Plana 1, Autosomal Dominant

Symptoms via clinical synopsis from OMIM:

57
Eyes:
congenital cornea plana


Clinical features from OMIM:

121400

Human phenotypes related to Cornea Plana 1, Autosomal Dominant:

32
# Description HPO Frequency HPO Source Accession
1 flat cornea 32 HP:0007720

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 29

Anatomical Context for Cornea Plana 1, Autosomal Dominant

MalaCards organs/tissues related to Cornea Plana 1, Autosomal Dominant:

41
Eye

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 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
Content
Loading form....