KTCN7
MCID: KRT053
MIFTS: 17

Keratoconus 7 (KTCN7)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Keratoconus 7

MalaCards integrated aliases for Keratoconus 7:

Name: Keratoconus 7 56 13 71
Ktcn7 56

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
keratoconus 7:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 56 614629
OMIM Phenotypic Series 56 PS148300
MedGen 41 C3553308
SNOMED-CT via HPO 68 263681008 65636009
UMLS 71 C3553308

Summaries for Keratoconus 7

OMIM : 56 Keratoconus (KTCN) is a noninflammatory thinning and consequent bulging of the cornea that results in distortion of the corneal surface, altered refractive powers of the eye (both axial and refractive), and reduced visual acuity. In more advanced cases, corneal scarring further reduces visual acuity. Symptoms are highly variable and depend on the stage of the progression of the disorder. The trait has an incidence of approximately 1 in 2,000 individuals and is the most common indication for corneal transplantation in the United States (summary by Gajecka et al., 2009). For a discussion of genetic heterogeneity of keratoconus, see KTCN1 (148300). (614629)

MalaCards based summary : Keratoconus 7, also known as ktcn7, is related to keratoconus. An important gene associated with Keratoconus 7 is KTCN7 (Keratoconus 7). Affiliated tissues include eye, and related phenotype is keratoconus.

Related Diseases for Keratoconus 7

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 7 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 keratoconus 11.4

Symptoms & Phenotypes for Keratoconus 7

Human phenotypes related to Keratoconus 7:

31
# Description HPO Frequency HPO Source Accession
1 keratoconus 31 HP:0000563

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
keratoconus
corneal thinning
conical protrusion of cornea with curvature greater than 47 d on topography
prominent corneal nerves
stromal scar tissue (in some patients)
more

Clinical features from OMIM:

614629

Drugs & Therapeutics for Keratoconus 7

Search Clinical Trials , NIH Clinical Center for Keratoconus 7

Genetic Tests for Keratoconus 7

Anatomical Context for Keratoconus 7

MalaCards organs/tissues related to Keratoconus 7:

40
Eye

Publications for Keratoconus 7

Articles related to Keratoconus 7:

(show all 12)
# Title Authors PMID Year
1
Variant c.2262A>C in DOCK9 Leads to Exon Skipping in Keratoconus Family. 56
26641546 2015
2
Novel mutation and three other sequence variants segregating with phenotype at keratoconus 13q32 susceptibility locus. 56
22045297 2012
3
Localization of a gene for keratoconus to a 5.6-Mb interval on 13q32. 56
19011015 2009
4
Topography and Pachymetry Guided, Rapid Epi-on Corneal Cross-Linking for Keratoconus: 7-year Study Results. 61
31356422 2020
5
Optical coherence tomography combined with videokeratography to differentiate mild keratoconus subtypes. 61
24763472 2014
6
Keratoconus diagnosis using anterior segment polarization-sensitive optical coherence tomography. 61
23349429 2013
7
Ocular complications of severe vernal keratoconjunctivitis (VKC) in Yemen. 61
23960939 2011
8
Deep anterior lamellar keratoplasty with dehydrated, 4 °C-stored, and rehydrated lenticules. 61
21058271 2011
9
Cataract surgery in keratoconus. 61
17873627 2007
10
The application of a computerised videokeratography (CVK) based contact lens fitting software programme on irregularly shaped corneal surfaces. 61
17689133 2007
11
The role of HLA-DRB1 matching in corneal grafting. 61
11816997 2001
12
[Aberrometry in the diagnosis of eye diseases]. 61
2095474 1990

Variations for Keratoconus 7

Expression for Keratoconus 7

Search GEO for disease gene expression data for Keratoconus 7.

Pathways for Keratoconus 7

GO Terms for Keratoconus 7

Sources for Keratoconus 7

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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