CNA2
MCID: CRN280
MIFTS: 18

Cornea Plana 2, Autosomal Recessive (CNA2)

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

Aliases & Classifications for Cornea Plana 2, Autosomal Recessive

MalaCards integrated aliases for Cornea Plana 2, Autosomal Recessive:

Name: Cornea Plana 2, Autosomal Recessive 57 75
Cornea Plana Congenita, Recessive 75 13
Cna2 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
cornea plana 2, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 217300
MedGen 42 C1857574
MeSH 44 D003316

Summaries for Cornea Plana 2, Autosomal Recessive

UniProtKB/Swiss-Prot : 75 Cornea plana 2, autosomal recessive: A severe form of cornea plana, a rare ocular disorder characterized by flattened corneal curvature leading to a decrease in refraction, reduced visual activity, hyperopia, hazy corneal limbus, opacities in the corneal parenchyma, and marked arcus senilis often detected at an early age. CNA2 patients manifest extreme hyperopia and additional ocular anomalies such as malformations of the iris, a slit-like pupil, and adhesions between iris and cornea.

MalaCards based summary : Cornea Plana 2, Autosomal Recessive, also known as cornea plana congenita, recessive, is related to cornea plana 1, autosomal dominant and cornea plana. An important gene associated with Cornea Plana 2, Autosomal Recessive is KERA (Keratocan). Affiliated tissues include eye, and related phenotypes are flat cornea and hypermetropia

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. CNA2 is a severe form of the disorder, which is frequently associated with additional ocular manifestations (summary by Tahvanainen et al., 1996). For discussion of genetic heterogeneity of CNA, see CNA1 (121400). (217300)

Related Diseases for Cornea Plana 2, Autosomal Recessive

Diseases in the Cornea Plana family:

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

Diseases related to Cornea Plana 2, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 cornea plana 1, autosomal dominant 10.1
2 cornea plana 10.1

Symptoms & Phenotypes for Cornea Plana 2, Autosomal Recessive

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
cornea plana
reduced visual activity
extreme hyperopia
hazy corneal limbus
corneal parenchymal opacities
more

Clinical features from OMIM:

217300

Human phenotypes related to Cornea Plana 2, Autosomal Recessive:

32
# Description HPO Frequency HPO Source Accession
1 flat cornea 32 HP:0007720
2 hypermetropia 32 HP:0000540
3 corneal arcus 32 HP:0001084
4 decreased corneal thickness 32 HP:0100689

Drugs & Therapeutics for Cornea Plana 2, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Cornea Plana 2, Autosomal Recessive

Genetic Tests for Cornea Plana 2, Autosomal Recessive

Anatomical Context for Cornea Plana 2, Autosomal Recessive

MalaCards organs/tissues related to Cornea Plana 2, Autosomal Recessive:

41
Eye

Publications for Cornea Plana 2, Autosomal Recessive

Variations for Cornea Plana 2, Autosomal Recessive

UniProtKB/Swiss-Prot genetic disease variations for Cornea Plana 2, Autosomal Recessive:

75
# Symbol AA change Variation ID SNP ID
1 KERA p.Thr215Lys VAR_012753 rs121917862
2 KERA p.Asn247Ser VAR_012754 rs121917858

ClinVar genetic disease variations for Cornea Plana 2, Autosomal Recessive:

6 (show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 KERA NM_007035.3(KERA): c.740A> G (p.Asn247Ser) single nucleotide variant Pathogenic rs121917858 GRCh37 Chromosome 12, 91449319: 91449319
2 KERA NM_007035.3(KERA): c.740A> G (p.Asn247Ser) single nucleotide variant Pathogenic rs121917858 GRCh38 Chromosome 12, 91055542: 91055542
3 KERA NM_007035.3(KERA): c.520C> T (p.Gln174Ter) single nucleotide variant Pathogenic rs121917860 GRCh37 Chromosome 12, 91449539: 91449539
4 KERA NM_007035.3(KERA): c.520C> T (p.Gln174Ter) single nucleotide variant Pathogenic rs121917860 GRCh38 Chromosome 12, 91055762: 91055762
5 KERA NM_007035.3(KERA): c.644C> A (p.Thr215Lys) single nucleotide variant Pathogenic rs121917862 GRCh37 Chromosome 12, 91449415: 91449415
6 KERA NM_007035.3(KERA): c.644C> A (p.Thr215Lys) single nucleotide variant Pathogenic rs121917862 GRCh38 Chromosome 12, 91055638: 91055638
7 KERA NM_007035.3(KERA): c.937C> T (p.Arg313Ter) single nucleotide variant Pathogenic rs121917863 GRCh37 Chromosome 12, 91445245: 91445245
8 KERA NM_007035.3(KERA): c.937C> T (p.Arg313Ter) single nucleotide variant Pathogenic rs121917863 GRCh38 Chromosome 12, 91051468: 91051468
9 KERA NM_007035.3(KERA): c.1026delC (p.Cys343Alafs) deletion Likely pathogenic rs386833984 GRCh37 Chromosome 12, 91445156: 91445156
10 KERA NM_007035.3(KERA): c.1026delC (p.Cys343Alafs) deletion Likely pathogenic rs386833984 GRCh38 Chromosome 12, 91051379: 91051379
11 KERA NM_007035.3(KERA): c.391A> G (p.Asn131Asp) single nucleotide variant Likely pathogenic rs386833985 GRCh37 Chromosome 12, 91449668: 91449668
12 KERA NM_007035.3(KERA): c.391A> G (p.Asn131Asp) single nucleotide variant Likely pathogenic rs386833985 GRCh38 Chromosome 12, 91055891: 91055891
13 KERA NM_007035.3(KERA): c.835C> T (p.Arg279Ter) single nucleotide variant Pathogenic/Likely pathogenic rs386833986 GRCh37 Chromosome 12, 91449224: 91449224
14 KERA NM_007035.3(KERA): c.835C> T (p.Arg279Ter) single nucleotide variant Pathogenic/Likely pathogenic rs386833986 GRCh38 Chromosome 12, 91055447: 91055447
15 KERA NM_007035.3(KERA): c.320T> G (p.Ile107Arg) single nucleotide variant Pathogenic rs757611751 GRCh37 Chromosome 12, 91449739: 91449739
16 KERA NM_007035.3(KERA): c.320T> G (p.Ile107Arg) single nucleotide variant Pathogenic rs757611751 GRCh38 Chromosome 12, 91055962: 91055962

Expression for Cornea Plana 2, Autosomal Recessive

Search GEO for disease gene expression data for Cornea Plana 2, Autosomal Recessive.

Pathways for Cornea Plana 2, Autosomal Recessive

GO Terms for Cornea Plana 2, Autosomal Recessive

Sources for Cornea Plana 2, Autosomal Recessive

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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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