KTCN6
MCID: KRT052
MIFTS: 17

Keratoconus 6 (KTCN6)

Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Keratoconus 6

MalaCards integrated aliases for Keratoconus 6:

Name: Keratoconus 6 57 13 70
Ktcn6 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant


HPO:

31
keratoconus 6:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 614623
OMIM Phenotypic Series 57 PS148300
MedGen 41 C3553306
SNOMED-CT via HPO 68 263681008 65636009
UMLS 70 C3553306

Summaries for Keratoconus 6

OMIM® : 57 Keratoconus is a clinical term used to describe a condition in which the cornea assumes a conical shape as a result of noninflammatory thinning and protrusion. Keratoconus is detected clinically by slit-lamp evaluation, which demonstrates stromal corneal thinning. Other clinical signs may include Vogt striae, iron ring, scarring, retroillumination signs such as the 'Charleaux oil droplet reflex,' and/or scissoring on retinoscopy; in subtle cases, the diagnosis may be confirmed by videokeratography. The estimated prevalence of keratoconus ranges from 50 to 230 per 100,000 in the general population, and approximately 6% to 23.5% of reported cases demonstrate familial transmission. Age of onset is at puberty and the disorder is progressive until the third or fourth decade of life, when it usually arrests. It is a major cause of cornea transplantation in developed countries (summary by Li et al., 2006). For a discussion of genetic heterogeneity of keratoconus, see KTCN1 (148300). (614623) (Updated 05-Apr-2021)

MalaCards based summary : Keratoconus 6, also known as ktcn6, is related to keratoconus and astigmatism. An important gene associated with Keratoconus 6 is KTCN6 (Keratoconus 6). Affiliated tissues include eye, and related phenotype is keratoconus.

Related Diseases for Keratoconus 6

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

# Related Disease Score Top Affiliating Genes
1 keratoconus 10.1
2 astigmatism 9.8
3 refractive error 9.8

Symptoms & Phenotypes for Keratoconus 6

Human phenotypes related to Keratoconus 6:

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
keratoconus

Clinical features from OMIM®:

614623 (Updated 05-Apr-2021)

Drugs & Therapeutics for Keratoconus 6

Search Clinical Trials , NIH Clinical Center for Keratoconus 6

Genetic Tests for Keratoconus 6

Anatomical Context for Keratoconus 6

MalaCards organs/tissues related to Keratoconus 6:

40
Eye

Publications for Keratoconus 6

Articles related to Keratoconus 6:

(show all 12)
# Title Authors PMID Year
1
Two-stage genome-wide linkage scan in keratoconus sib pair families. 57
16936089 2006
2
Epithelium-off corneal cross-linking in progressive keratoconus: 6- year outcomes. 61
30904286 2019
3
Distinguishing between contact lens warpage and ectasia: Usefulness of optical coherence tomography epithelial thickness mapping. 61
28317679 2017
4
Intrastromal corneal ring segment implantation (keraring 355°) in patients with central keratoconus: 6-month follow-up. 61
25685395 2015
5
Clinical outcomes of MyoRing implantation in keratoconic eyes by using the Femtosecond laser technology. 61
28316668 2015
6
Trans epithelial corneal collagen crosslinking for progressive keratoconus: 6 months follow up. 61
25172670 2014
7
Demographic and clinical profile of vernal keratoconjunctivitis at a tertiary eye care center in India. 61
24104706 2013
8
Clinical outcomes of posterior chamber toric phakic intraocular lens implantation for the correction of high myopic astigmatism in eyes with keratoconus: 6-month follow-up. 61
20953620 2011
9
[Study on enhanced leukocyte antigen-related tyrosine phosphatase in keratoconus]. 61
15840365 2005
10
Topographic patterns in refractive surgery candidates. 61
15257000 2004
11
Comparison of keratometric values of healthy and diseased eyes measured by Javal keratometer, EyeSys, and PAR. 61
9159687 1997
12
An update of the indications for penetrating keratoplasty. 1979 through 1983. 61
3510613 1986

Variations for Keratoconus 6

Expression for Keratoconus 6

Search GEO for disease gene expression data for Keratoconus 6.

Pathways for Keratoconus 6

GO Terms for Keratoconus 6

Sources for Keratoconus 6

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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