KTCN1
MCID: KRT029
MIFTS: 25

Keratoconus 1 (KTCN1)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Keratoconus 1

MalaCards integrated aliases for Keratoconus 1:

Name: Keratoconus 1 58 76 30 13 6 74
Ktcn1 58 76
Keratoconus, Type 1 41

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
young adult onset
precipitation by pregnancy


HPO:

33
keratoconus 1:
Inheritance heterogeneous autosomal dominant inheritance
Onset and clinical course young adult onset


Classifications:



External Ids:

OMIM 58 148300
MedGen 43 C1835677
SNOMED-CT via HPO 70 263681008 65636009 82649003
UMLS 74 C1835677

Summaries for Keratoconus 1

OMIM : 58 Keratoconus, the most common corneal dystrophy, is a bilateral, noninflammatory progressive corneal ectasia. Clinically, the cornea becomes progressively thin and conical, resulting in myopia, irregular astigmatism, and corneal scarring. The disease usually arises in the teenage years, eventually stabilizing in the third and fourth decades. The incidence of keratoconus is 1 in 2,000 in the general population; it occurs with no ethnic or gender preponderance, and causes significant visual impairment in young adults. No specific treatment exists except to replace the corneal tissue by surgery (corneal transplantation) when visual acuity can no longer be corrected by contact lenses (summary by Dash et al., 2006). Ihalainen (1986) reviewed various conditions with which keratoconus is at times associated. Keratoconus is frequent in cases of amaurosis congenita of Leber (204000). (148300)

MalaCards based summary : Keratoconus 1, also known as ktcn1, is related to keratoconus 5 and keratoconus 6. An important gene associated with Keratoconus 1 is VSX1 (Visual System Homeobox 1). Affiliated tissues include eye, and related phenotypes are keratoconus and astigmatism

UniProtKB/Swiss-Prot : 76 Keratoconus 1: Frequent corneal dystrophy with an incidence that varies from 50 to 230 per 100'000. The cornea assumes a conical shape as a result of a progressive non-inflammatory thinning of the corneal stroma. Keratoconus is most often an isolated sporadic condition with cases of autosomal dominant and autosomal recessive transmission.

Related Diseases for Keratoconus 1

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

# Related Disease Score Top Affiliating Genes
1 keratoconus 5 11.1
2 keratoconus 6 11.1
3 keratoconus 8 11.1
4 keratoconus 7 11.1
5 corneal disease 9.9 VSX1 ZNF469
6 keratoconus 9.1 HKDC1 IL17B PROB1 VSX1 ZNF469

Graphical network of the top 20 diseases related to Keratoconus 1:



Diseases related to Keratoconus 1

Symptoms & Phenotypes for Keratoconus 1

Human phenotypes related to Keratoconus 1:

33
# Description HPO Frequency HPO Source Accession
1 keratoconus 33 HP:0000563
2 astigmatism 33 HP:0000483

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
keratoconus
astigmatism
predictors of acute corneal hydrops
increased epithelial thickening
stromal thinning at the cone
more

Clinical features from OMIM:

148300

Drugs & Therapeutics for Keratoconus 1

Search Clinical Trials , NIH Clinical Center for Keratoconus 1

Genetic Tests for Keratoconus 1

Genetic tests related to Keratoconus 1:

# Genetic test Affiliating Genes
1 Keratoconus 1 30 VSX1

Anatomical Context for Keratoconus 1

MalaCards organs/tissues related to Keratoconus 1:

42
Eye

Publications for Keratoconus 1

Articles related to Keratoconus 1:

# Title Authors Year
1
Transepithelial accelerated corneal collagen cross-linking with higher oxygen availability for keratoconus: 1-year results. ( 29116549 )
2018
2
Topographic outcomes after corneal collagen crosslinking in progressive keratoconus: 1-year follow-up. ( 28591281 )
2017
3
Refractive improvements and safety with topography-guided corneal crosslinking for keratoconus: 1-year results. ( 27899371 )
2017
4
Changes in corneal topography and biomechanical properties after collagen cross linking for keratoconus: 1-year results. ( 25949080 )
2015
5
Corneal transparency after cross-linking for keratoconus: 1-year follow-up. ( 23347372 )
2012
6
Safety and efficacy of simultaneous corneal collagen cross-linking with topography-guided PRK in managing low-grade keratoconus: 1-year follow-up. ( 22443804 )
2012
7
Mutational screening of VSX1, SPARC, SOD1, LOX, and TIMP3 in keratoconus. ( 21976959 )
2011
8
Three VSX1 gene mutations, L159M, R166W, and H244R, are not associated with keratoconus. ( 18216574 )
2008
9
VSX1 mutational analysis in a series of Italian patients affected by keratoconus: detection of a novel mutation. ( 15623752 )
2005
10
VSX1: a gene for posterior polymorphous dystrophy and keratoconus. ( 11978762 )
2002

Variations for Keratoconus 1

UniProtKB/Swiss-Prot genetic disease variations for Keratoconus 1:

76
# Symbol AA change Variation ID SNP ID
1 VSX1 p.Arg166Trp VAR_014246 rs74315432
2 VSX1 p.Gln175His VAR_063100 rs771561481
3 VSX1 p.Leu17Pro VAR_066670 rs74315436

ClinVar genetic disease variations for Keratoconus 1:

6 (show top 50) (show all 80)
# Gene Variation Type Significance SNP ID Assembly Location
1 VSX1 NM_014588.5(VSX1): c.496C> T (p.Arg166Trp) single nucleotide variant Pathogenic rs74315432 GRCh37 Chromosome 20, 25060079: 25060079
2 VSX1 NM_014588.5(VSX1): c.496C> T (p.Arg166Trp) single nucleotide variant Pathogenic rs74315432 GRCh38 Chromosome 20, 25079443: 25079443
3 VSX1 NM_014588.5(VSX1): c.475T> A (p.Leu159Met) single nucleotide variant Uncertain significance rs74315434 GRCh37 Chromosome 20, 25060100: 25060100
4 VSX1 NM_014588.5(VSX1): c.475T> A (p.Leu159Met) single nucleotide variant Uncertain significance rs74315434 GRCh38 Chromosome 20, 25079464: 25079464
5 VSX1 NM_014588.5(VSX1): c.50T> C (p.Leu17Pro) single nucleotide variant Likely benign rs74315436 GRCh37 Chromosome 20, 25062683: 25062683
6 VSX1 NM_014588.5(VSX1): c.50T> C (p.Leu17Pro) single nucleotide variant Likely benign rs74315436 GRCh38 Chromosome 20, 25082047: 25082047
7 ZNF469 NM_001127464.2(ZNF469): c.10843C> T (p.Leu3615=) single nucleotide variant Likely pathogenic rs273585637 GRCh37 Chromosome 16, 88504805: 88504805
8 ZNF469 NM_001127464.2(ZNF469): c.1020C> T (p.Gly340=) single nucleotide variant Conflicting interpretations of pathogenicity rs273585633 GRCh38 Chromosome 16, 88428490: 88428490
9 ZNF469 NM_001127464.2(ZNF469): c.1020C> T (p.Gly340=) single nucleotide variant Conflicting interpretations of pathogenicity rs273585633 GRCh37 Chromosome 16, 88494898: 88494898
10 ZNF469 NM_001127464.2(ZNF469): c.10489G> A (p.Glu3497Lys) single nucleotide variant Benign rs273585628 GRCh38 Chromosome 16, 88438043: 88438043
11 ZNF469 NM_001127464.2(ZNF469): c.10489G> A (p.Glu3497Lys) single nucleotide variant Benign rs273585628 GRCh37 Chromosome 16, 88504451: 88504451
12 ZNF469 NM_001127464.2(ZNF469): c.10843C> T (p.Leu3615=) single nucleotide variant Likely pathogenic rs273585637 GRCh38 Chromosome 16, 88438397: 88438397
13 ZNF469 NM_001127464.2(ZNF469): c.11101G> A (p.Gly3701Ser) single nucleotide variant Pathogenic rs273585629 GRCh38 Chromosome 16, 88438655: 88438655
14 ZNF469 NM_001127464.2(ZNF469): c.11101G> A (p.Gly3701Ser) single nucleotide variant Pathogenic rs273585629 GRCh37 Chromosome 16, 88505063: 88505063
15 ZNF469 NM_001127464.2(ZNF469): c.11615C> T (p.Pro3872Leu) single nucleotide variant Pathogenic rs273585630 GRCh38 Chromosome 16, 88439169: 88439169
16 ZNF469 NM_001127464.2(ZNF469): c.11615C> T (p.Pro3872Leu) single nucleotide variant Pathogenic rs273585630 GRCh37 Chromosome 16, 88505577: 88505577
17 ZNF469 NM_001127464.2(ZNF469): c.2478G> T (p.Pro826=) single nucleotide variant Likely pathogenic rs273585634 GRCh38 Chromosome 16, 88429948: 88429948
18 ZNF469 NM_001127464.2(ZNF469): c.2478G> T (p.Pro826=) single nucleotide variant Likely pathogenic rs273585634 GRCh37 Chromosome 16, 88496356: 88496356
19 ZNF469 NM_001127464.2(ZNF469): c.2643C> G (p.Ser881=) single nucleotide variant Benign rs273585635 GRCh38 Chromosome 16, 88430113: 88430113
20 ZNF469 NM_001127464.2(ZNF469): c.2643C> G (p.Ser881=) single nucleotide variant Benign rs273585635 GRCh37 Chromosome 16, 88496521: 88496521
21 ZNF469 NM_001127464.2(ZNF469): c.2699C> T (p.Pro900Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs273585618 GRCh38 Chromosome 16, 88430169: 88430169
22 ZNF469 NM_001127464.2(ZNF469): c.2699C> T (p.Pro900Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs273585618 GRCh37 Chromosome 16, 88496577: 88496577
23 ZNF469 NM_001127464.2(ZNF469): c.290C> T (p.Pro97Leu) single nucleotide variant Pathogenic rs273585617 GRCh38 Chromosome 16, 88427760: 88427760
24 ZNF469 NM_001127464.2(ZNF469): c.290C> T (p.Pro97Leu) single nucleotide variant Pathogenic rs273585617 GRCh37 Chromosome 16, 88494168: 88494168
25 ZNF469 NM_001127464.2(ZNF469): c.3119A> C (p.Lys1040Thr) single nucleotide variant Pathogenic rs273585619 GRCh38 Chromosome 16, 88430589: 88430589
26 ZNF469 NM_001127464.2(ZNF469): c.3119A> C (p.Lys1040Thr) single nucleotide variant Pathogenic rs273585619 GRCh37 Chromosome 16, 88496997: 88496997
27 ZNF469 NM_001127464.2(ZNF469): c.4363G> T (p.Ala1455Ser) single nucleotide variant Pathogenic rs273585620 GRCh38 Chromosome 16, 88431917: 88431917
28 ZNF469 NM_001127464.2(ZNF469): c.4363G> T (p.Ala1455Ser) single nucleotide variant Pathogenic rs273585620 GRCh37 Chromosome 16, 88498325: 88498325
29 ZNF469 NM_001127464.2(ZNF469): c.4826G> C (p.Arg1609Pro) single nucleotide variant Benign rs273585621 GRCh38 Chromosome 16, 88432380: 88432380
30 ZNF469 NM_001127464.2(ZNF469): c.4826G> C (p.Arg1609Pro) single nucleotide variant Benign rs273585621 GRCh37 Chromosome 16, 88498788: 88498788
31 ZNF469 NM_001127464.2(ZNF469): c.6007G> A (p.Glu2003Lys) single nucleotide variant Benign rs273585622 GRCh38 Chromosome 16, 88433561: 88433561
32 ZNF469 NM_001127464.2(ZNF469): c.6007G> A (p.Glu2003Lys) single nucleotide variant Benign rs273585622 GRCh37 Chromosome 16, 88499969: 88499969
33 ZNF469 NM_001127464.2(ZNF469): c.6095C> A (p.Ser2032Tyr) single nucleotide variant Pathogenic rs273585623 GRCh38 Chromosome 16, 88433649: 88433649
34 ZNF469 NM_001127464.2(ZNF469): c.6095C> A (p.Ser2032Tyr) single nucleotide variant Pathogenic rs273585623 GRCh37 Chromosome 16, 88500057: 88500057
35 ZNF469 NM_001127464.2(ZNF469): c.6725C> A (p.Ser2242Tyr) single nucleotide variant Pathogenic rs273585624 GRCh38 Chromosome 16, 88434279: 88434279
36 ZNF469 NM_001127464.2(ZNF469): c.6725C> A (p.Ser2242Tyr) single nucleotide variant Pathogenic rs273585624 GRCh37 Chromosome 16, 88500687: 88500687
37 ZNF469 NM_001127464.2(ZNF469): c.720G> A (p.Glu240=) single nucleotide variant Likely pathogenic rs273585632 GRCh38 Chromosome 16, 88428190: 88428190
38 ZNF469 NM_001127464.2(ZNF469): c.720G> A (p.Glu240=) single nucleotide variant Likely pathogenic rs273585632 GRCh37 Chromosome 16, 88494598: 88494598
39 ZNF469 NM_001127464.2(ZNF469): c.77G> C (p.Ser26Thr) single nucleotide variant Pathogenic rs273585616 GRCh38 Chromosome 16, 88427547: 88427547
40 ZNF469 NM_001127464.2(ZNF469): c.77G> C (p.Ser26Thr) single nucleotide variant Pathogenic rs273585616 GRCh37 Chromosome 16, 88493955: 88493955
41 ZNF469 NM_001127464.2(ZNF469): c.8912G> T (p.Gly2971Val) single nucleotide variant Pathogenic rs273585625 GRCh38 Chromosome 16, 88436466: 88436466
42 ZNF469 NM_001127464.2(ZNF469): c.8912G> T (p.Gly2971Val) single nucleotide variant Pathogenic rs273585625 GRCh37 Chromosome 16, 88502874: 88502874
43 ZNF469 NM_001127464.2(ZNF469): c.9047C> T (p.Thr3016Met) single nucleotide variant Uncertain significance rs273585626 GRCh38 Chromosome 16, 88436601: 88436601
44 ZNF469 NM_001127464.2(ZNF469): c.9047C> T (p.Thr3016Met) single nucleotide variant Uncertain significance rs273585626 GRCh37 Chromosome 16, 88503009: 88503009
45 ZNF469 NM_001127464.2(ZNF469): c.9471C> G (p.Ala3157=) single nucleotide variant Likely benign rs273585636 GRCh38 Chromosome 16, 88437025: 88437025
46 ZNF469 NM_001127464.2(ZNF469): c.9471C> G (p.Ala3157=) single nucleotide variant Likely benign rs273585636 GRCh37 Chromosome 16, 88503433: 88503433
47 ZNF469 NM_001127464.2(ZNF469): c.9835A> G (p.Thr3279Ala) single nucleotide variant Uncertain significance rs273585627 GRCh38 Chromosome 16, 88437389: 88437389
48 ZNF469 NM_001127464.2(ZNF469): c.9835A> G (p.Thr3279Ala) single nucleotide variant Uncertain significance rs273585627 GRCh37 Chromosome 16, 88503797: 88503797
49 ZNF469 NM_001127464.2(ZNF469): c.99G> A (p.Pro33=) single nucleotide variant Likely pathogenic rs273585631 GRCh38 Chromosome 16, 88427569: 88427569
50 ZNF469 NM_001127464.2(ZNF469): c.99G> A (p.Pro33=) single nucleotide variant Likely pathogenic rs273585631 GRCh37 Chromosome 16, 88493977: 88493977

Expression for Keratoconus 1

Search GEO for disease gene expression data for Keratoconus 1.

Pathways for Keratoconus 1

GO Terms for Keratoconus 1

Sources for Keratoconus 1

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70 SNOMED-CT via HPO
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75 UMLS via Orphanet
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