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 57 75 29 13 6 73
Ktcn1 57 75
Keratoconus, Type 1 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
young adult onset
precipitation by pregnancy


HPO:

32
keratoconus 1:
Inheritance heterogeneous autosomal dominant inheritance
Onset and clinical course young adult onset


Classifications:



External Ids:

OMIM 57 148300
MedGen 42 C1835677
SNOMED-CT via HPO 69 263681008 82649003 65636009
UMLS 73 C1835677

Summaries for Keratoconus 1

OMIM : 57 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 : 75 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 ZNF469 VSX1
6 keratoconus 9.2 ZNF469 VSX1 SKP1 PROB1 IL17B HKDC1

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



Diseases related to Keratoconus 1

Symptoms & Phenotypes for Keratoconus 1

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Keratoconus 1:

32
# Description HPO Frequency HPO Source Accession
1 keratoconus 32 HP:0000563
2 astigmatism 32 HP:0000483

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 29 VSX1

Anatomical Context for Keratoconus 1

MalaCards organs/tissues related to Keratoconus 1:

41
Eye

Publications for Keratoconus 1

Articles related to Keratoconus 1:

# Title Authors Year
1
Topographic outcomes after corneal collagen crosslinking in progressive keratoconus: 1-year follow-up. ( 28591281 )
2017
2
Transepithelial accelerated corneal collagen cross-linking with higher oxygen availability for keratoconus: 1-year results. ( 29116549 )
2017
3
Refractive improvements and safety with topography-guided corneal crosslinking for keratoconus: 1-year results. ( 27899371 )
2016
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

Variations for Keratoconus 1

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

75
# 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 GRCh38 Chromosome 20, 25079443: 25079443
2 VSX1 NM_014588.5(VSX1): c.496C> T (p.Arg166Trp) single nucleotide variant Pathogenic rs74315432 GRCh37 Chromosome 20, 25060079: 25060079
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.2478G> T (p.Pro826=) single nucleotide variant Likely pathogenic rs273585634 GRCh38 Chromosome 16, 88429948: 88429948
8 ZNF469 NM_001127464.2(ZNF469): c.2478G> T (p.Pro826=) single nucleotide variant Likely pathogenic rs273585634 GRCh37 Chromosome 16, 88496356: 88496356
9 ZNF469 NM_001127464.2(ZNF469): c.2643C> G (p.Ser881=) single nucleotide variant Benign rs273585635 GRCh38 Chromosome 16, 88430113: 88430113
10 ZNF469 NM_001127464.2(ZNF469): c.2643C> G (p.Ser881=) single nucleotide variant Benign rs273585635 GRCh37 Chromosome 16, 88496521: 88496521
11 ZNF469 NM_001127464.2(ZNF469): c.5060G> A (p.Arg1687Lys) single nucleotide variant Likely pathogenic rs281865149 GRCh37 Chromosome 16, 88499022: 88499022
12 ZNF469 NM_001127464.2(ZNF469): c.11615C> T (p.Pro3872Leu) single nucleotide variant Pathogenic rs273585630 GRCh37 Chromosome 16, 88505577: 88505577
13 ZNF469 NM_001127464.2(ZNF469): c.1020C> T (p.Gly340=) single nucleotide variant Conflicting interpretations of pathogenicity rs273585633 GRCh38 Chromosome 16, 88428490: 88428490
14 ZNF469 NM_001127464.2(ZNF469): c.1020C> T (p.Gly340=) single nucleotide variant Conflicting interpretations of pathogenicity rs273585633 GRCh37 Chromosome 16, 88494898: 88494898
15 ZNF469 NM_001127464.2(ZNF469): c.10489G> A (p.Glu3497Lys) single nucleotide variant Benign rs273585628 GRCh38 Chromosome 16, 88438043: 88438043
16 ZNF469 NM_001127464.2(ZNF469): c.10489G> A (p.Glu3497Lys) single nucleotide variant Benign rs273585628 GRCh37 Chromosome 16, 88504451: 88504451
17 ZNF469 NM_001127464.2(ZNF469): c.10843C> T (p.Leu3615=) single nucleotide variant Likely pathogenic rs273585637 GRCh38 Chromosome 16, 88438397: 88438397
18 ZNF469 NM_001127464.2(ZNF469): c.10843C> T (p.Leu3615=) single nucleotide variant Likely pathogenic rs273585637 GRCh37 Chromosome 16, 88504805: 88504805
19 ZNF469 NM_001127464.2(ZNF469): c.11101G> A (p.Gly3701Ser) single nucleotide variant Pathogenic rs273585629 GRCh38 Chromosome 16, 88438655: 88438655
20 ZNF469 NM_001127464.2(ZNF469): c.11101G> A (p.Gly3701Ser) single nucleotide variant Pathogenic rs273585629 GRCh37 Chromosome 16, 88505063: 88505063
21 ZNF469 NM_001127464.2(ZNF469): c.11615C> T (p.Pro3872Leu) single nucleotide variant Pathogenic rs273585630 GRCh38 Chromosome 16, 88439169: 88439169
22 ZNF469 NM_001127464.2(ZNF469): c.2699C> T (p.Pro900Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs273585618 GRCh38 Chromosome 16, 88430169: 88430169
23 ZNF469 NM_001127464.2(ZNF469): c.2699C> T (p.Pro900Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs273585618 GRCh37 Chromosome 16, 88496577: 88496577
24 ZNF469 NM_001127464.2(ZNF469): c.290C> T (p.Pro97Leu) single nucleotide variant Pathogenic rs273585617 GRCh38 Chromosome 16, 88427760: 88427760
25 ZNF469 NM_001127464.2(ZNF469): c.290C> T (p.Pro97Leu) single nucleotide variant Pathogenic rs273585617 GRCh37 Chromosome 16, 88494168: 88494168
26 ZNF469 NM_001127464.2(ZNF469): c.3119A> C (p.Lys1040Thr) single nucleotide variant Pathogenic rs273585619 GRCh38 Chromosome 16, 88430589: 88430589
27 ZNF469 NM_001127464.2(ZNF469): c.3119A> C (p.Lys1040Thr) single nucleotide variant Pathogenic rs273585619 GRCh37 Chromosome 16, 88496997: 88496997
28 ZNF469 NM_001127464.2(ZNF469): c.4363G> T (p.Ala1455Ser) single nucleotide variant Pathogenic rs273585620 GRCh38 Chromosome 16, 88431917: 88431917
29 ZNF469 NM_001127464.2(ZNF469): c.4363G> T (p.Ala1455Ser) single nucleotide variant Pathogenic rs273585620 GRCh37 Chromosome 16, 88498325: 88498325
30 ZNF469 NM_001127464.2(ZNF469): c.4826G> C (p.Arg1609Pro) single nucleotide variant Benign rs273585621 GRCh38 Chromosome 16, 88432380: 88432380
31 ZNF469 NM_001127464.2(ZNF469): c.4826G> C (p.Arg1609Pro) single nucleotide variant Benign rs273585621 GRCh37 Chromosome 16, 88498788: 88498788
32 ZNF469 NM_001127464.2(ZNF469): c.6007G> A (p.Glu2003Lys) single nucleotide variant Benign rs273585622 GRCh38 Chromosome 16, 88433561: 88433561
33 ZNF469 NM_001127464.2(ZNF469): c.6007G> A (p.Glu2003Lys) single nucleotide variant Benign rs273585622 GRCh37 Chromosome 16, 88499969: 88499969
34 ZNF469 NM_001127464.2(ZNF469): c.6095C> A (p.Ser2032Tyr) single nucleotide variant Pathogenic rs273585623 GRCh38 Chromosome 16, 88433649: 88433649
35 ZNF469 NM_001127464.2(ZNF469): c.6095C> A (p.Ser2032Tyr) single nucleotide variant Pathogenic rs273585623 GRCh37 Chromosome 16, 88500057: 88500057
36 ZNF469 NM_001127464.2(ZNF469): c.6725C> A (p.Ser2242Tyr) single nucleotide variant Pathogenic rs273585624 GRCh38 Chromosome 16, 88434279: 88434279
37 ZNF469 NM_001127464.2(ZNF469): c.6725C> A (p.Ser2242Tyr) single nucleotide variant Pathogenic rs273585624 GRCh37 Chromosome 16, 88500687: 88500687
38 ZNF469 NM_001127464.2(ZNF469): c.720G> A (p.Glu240=) single nucleotide variant Likely pathogenic rs273585632 GRCh38 Chromosome 16, 88428190: 88428190
39 ZNF469 NM_001127464.2(ZNF469): c.720G> A (p.Glu240=) single nucleotide variant Likely pathogenic rs273585632 GRCh37 Chromosome 16, 88494598: 88494598
40 ZNF469 NM_001127464.2(ZNF469): c.77G> C (p.Ser26Thr) single nucleotide variant Pathogenic rs273585616 GRCh38 Chromosome 16, 88427547: 88427547
41 ZNF469 NM_001127464.2(ZNF469): c.77G> C (p.Ser26Thr) single nucleotide variant Pathogenic rs273585616 GRCh37 Chromosome 16, 88493955: 88493955
42 ZNF469 NM_001127464.2(ZNF469): c.8912G> T (p.Gly2971Val) single nucleotide variant Pathogenic rs273585625 GRCh38 Chromosome 16, 88436466: 88436466
43 ZNF469 NM_001127464.2(ZNF469): c.8912G> T (p.Gly2971Val) single nucleotide variant Pathogenic rs273585625 GRCh37 Chromosome 16, 88502874: 88502874
44 ZNF469 NM_001127464.2(ZNF469): c.9047C> T (p.Thr3016Met) single nucleotide variant Uncertain significance rs273585626 GRCh38 Chromosome 16, 88436601: 88436601
45 ZNF469 NM_001127464.2(ZNF469): c.9047C> T (p.Thr3016Met) single nucleotide variant Uncertain significance rs273585626 GRCh37 Chromosome 16, 88503009: 88503009
46 ZNF469 NM_001127464.2(ZNF469): c.9471C> G (p.Ala3157=) single nucleotide variant Likely benign rs273585636 GRCh38 Chromosome 16, 88437025: 88437025
47 ZNF469 NM_001127464.2(ZNF469): c.9471C> G (p.Ala3157=) single nucleotide variant Likely benign rs273585636 GRCh37 Chromosome 16, 88503433: 88503433
48 ZNF469 NM_001127464.2(ZNF469): c.9835A> G (p.Thr3279Ala) single nucleotide variant Uncertain significance rs273585627 GRCh38 Chromosome 16, 88437389: 88437389
49 ZNF469 NM_001127464.2(ZNF469): c.9835A> G (p.Thr3279Ala) single nucleotide variant Uncertain significance rs273585627 GRCh37 Chromosome 16, 88503797: 88503797
50 ZNF469 NM_001127464.2(ZNF469): c.99G> A (p.Pro33=) single nucleotide variant Likely pathogenic rs273585631 GRCh38 Chromosome 16, 88427569: 88427569

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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