KTCN8
MCID: KRT054
MIFTS: 16

Keratoconus 8 (KTCN8)

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

Aliases & Classifications for Keratoconus 8

MalaCards integrated aliases for Keratoconus 8:

Name: Keratoconus 8 57 13 70
Ktcn8 57

Characteristics:

OMIM®:

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


HPO:

31
keratoconus 8:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 614628
OMIM Phenotypic Series 57 PS148300
MedGen 41 C3553307
SNOMED-CT via HPO 68 263681008 65636009
UMLS 70 C3553307

Summaries for Keratoconus 8

OMIM® : 57 Keratoconus is a noninflammatory disorder in which there is thinning and ectasia of the cornea. The estimated prevalence varies from 29 to 86 per 100,000, although the condition may be underreported. The onset of disease is typically after puberty, with subsequent progression at a variable rate over the following decades. Visual acuity is initially reduced by irregular corneal astigmatism but scarring can also develop (summary by Liskova et al., 2010). For a discussion of genetic heterogeneity of keratoconus, see KTCN1 (148300). (614628) (Updated 05-Apr-2021)

MalaCards based summary : Keratoconus 8, also known as ktcn8, is related to keratoconus. An important gene associated with Keratoconus 8 is KTCN8 (Keratoconus 8). Related phenotype is keratoconus.

Related Diseases for Keratoconus 8

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

# Related Disease Score Top Affiliating Genes
1 keratoconus 9.8

Symptoms & Phenotypes for Keratoconus 8

Human phenotypes related to Keratoconus 8:

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®:

614628 (Updated 05-Apr-2021)

Drugs & Therapeutics for Keratoconus 8

Search Clinical Trials , NIH Clinical Center for Keratoconus 8

Genetic Tests for Keratoconus 8

Anatomical Context for Keratoconus 8

Publications for Keratoconus 8

Articles related to Keratoconus 8:

(show all 16)
# Title Authors PMID Year
1
Evidence for keratoconus susceptibility locus on chromosome 14: a genome-wide linkage screen using single-nucleotide polymorphism markers. 57
20837804 2010
2
Do variants in IRF2BPL cause both neurological disorders and keratoconus 8? 61
33069610 2020
3
Keratoconus Prevalence Among High School Students in New Zealand. 61
31335534 2019
4
Long-Term Results of Accelerated Corneal Cross-Linking in Adolescent Patients With Keratoconus. 61
31033692 2019
5
Trends in Corneal Transplantation from 2001 to 2016 in Germany: A Report of the DOG-Section Cornea and its Keratoplasty Registry. 61
29410297 2018
6
Deep anterior lamellar keratoplasty in children. 61
23218688 2013
7
Measure of keratoconus progression in patients with vernal keratoconjunctivitis using scanning slit topography. 61
23092830 2013
8
[The penetrating keratoplasty. A 100-year success story]. 61
16328481 2005
9
11-0 Mersilene alone as a single running suture in corneal grafts. 61
11450722 2001
10
Indications for and outcomes of repeat penetrating keratoplasty, 1989-1995. 61
10768334 2000
11
[Surgical correction of astigmatism after wedge resection keratoplasty]. 61
11291293 2000
12
[Interpretation of corneal topography after penetrating keratoplasty with wave-front parameters--comparison between non-mechanical trepanation with excimer laser and motor trepanation]. 61
9715463 1998
13
[Transplant vertical tilt after perforating keratoplasty--comparison between non-mechanical trepanation with excimer laser and motor trepanation]. 61
9592737 1998
14
Cinemakeratography using computer morphing. 61
9403893 1997
15
[Fourier analysis as a mathematical model for evaluating and presenting postoperative corneal topography data after non-mechanical perforating keratoplasty]. 61
9235393 1997
16
A piggyback contact lens for the correction of irregular astigmatism in keratoconus. 61
8302546 1994

Variations for Keratoconus 8

Expression for Keratoconus 8

Search GEO for disease gene expression data for Keratoconus 8.

Pathways for Keratoconus 8

GO Terms for Keratoconus 8

Sources for Keratoconus 8

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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