KTCN5
MCID: KRT050
MIFTS: 14

Keratoconus 5 (KTCN5)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Keratoconus 5

MalaCards integrated aliases for Keratoconus 5:

Name: Keratoconus 5 58 13 74
Ktcn5 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
keratoconus 5:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 614622
MedGen 43 C3553302
SNOMED-CT via HPO 70 263681008 65636009
UMLS 74 C3553302

Summaries for Keratoconus 5

OMIM : 58 Keratoconus is a noninflammatory progressive corneal thinning disorder resulting in mixed myopia and irregular astigmatism. Characteristic features include stromal thinning, Vogt striae, Fleisher ring, and scissoring of the retinoscopic reflex with a fully dilated pupil. Symptoms usually develop in the second decade and are likely to progress in the third decade, whereas progression slows after age 30 years. The progression of keratoconus may result in severe visual impairment and some affected individuals require cornea transplantation. The prevalence of keratoconus is about 1 in 2,000 in Caucasian populations, and is a leading cause for cornea transplantation in developed countries (summary by Tang et al., 2005). For a discussion of genetic heterogeneity of keratoconus, see KTCN1 (148300). (614622)

MalaCards based summary : Keratoconus 5, also known as ktcn5, is related to keratoconus. An important gene associated with Keratoconus 5 is KTCN5 (Keratoconus 5). Affiliated tissues include eye, and related phenotype is keratoconus.

Related Diseases for Keratoconus 5

Diseases in the Keratoconus family:

Keratoconus 1 Keratoconus 3
Keratoconus 2 Keratoconus 4
Keratoconus 5 Keratoconus 6
Keratoconus 8 Keratoconus 7
Keratoconus 9

Diseases related to Keratoconus 5 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 keratoconus 11.3

Symptoms & Phenotypes for Keratoconus 5

Human phenotypes related to Keratoconus 5:

33
# Description HPO Frequency HPO Source Accession
1 keratoconus 33 HP:0000563

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
keratoconus
central steepening of cornea
stromal thinning
subepithelial fibrosis
fragmentation of bowman membrane
more

Clinical features from OMIM:

614622

Drugs & Therapeutics for Keratoconus 5

Search Clinical Trials , NIH Clinical Center for Keratoconus 5

Genetic Tests for Keratoconus 5

Anatomical Context for Keratoconus 5

MalaCards organs/tissues related to Keratoconus 5:

42
Eye

Publications for Keratoconus 5

Variations for Keratoconus 5

Expression for Keratoconus 5

Search GEO for disease gene expression data for Keratoconus 5.

Pathways for Keratoconus 5

GO Terms for Keratoconus 5

Sources for Keratoconus 5

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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