Keratoconus 1 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

KTCN1 MCID: KRT029 MIFTS: 25	Keratoconus 1 (KTCN1) Categories: Eye diseases, Genetic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Eye diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁸ 148300

MedGen ⁴³ C1835677

SNOMED-CT via HPO ⁷⁰ 263681008 65636009 82649003

UMLS ⁷⁴ C1835677

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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.

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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:

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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

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Drugs & Therapeutics for Keratoconus 1

Search Clinical Trials , NIH Clinical Center for Keratoconus 1

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Genetic Tests for Keratoconus 1

Genetic tests related to Keratoconus 1:

#	Genetic test	Affiliating Genes
1	Keratoconus 1 ³⁰	VSX1

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Anatomical Context for Keratoconus 1

MalaCards organs/tissues related to Keratoconus 1:

⁴²

Eye

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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 )	Sun L...Zhou X	2018
2	Topographic outcomes after corneal collagen crosslinking in progressive keratoconus: 1-year follow-up. ( 28591281 )	Tiveron MC...Kara-Junior N	2017
3	Refractive improvements and safety with topography-guided corneal crosslinking for keratoconus: 1-year results. ( 27899371 )	Nordstr?m M...Behndig A	2017
4	Changes in corneal topography and biomechanical properties after collagen cross linking for keratoconus: 1-year results. ( 25949080 )	Sedaghat M...Bamdad S	2015
5	Corneal transparency after cross-linking for keratoconus: 1-year follow-up. ( 23347372 )	Guti?rrez R...Gonz?lez-M?ijome JM	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 )	Tuwairqi WS...Sinjab MM	2012
7	Mutational screening of VSX1, SPARC, SOD1, LOX, and TIMP3 in keratoconus. ( 21976959 )	De Bonis P...Bisceglia L	2011
8	Three VSX1 gene mutations, L159M, R166W, and H244R, are not associated with keratoconus. ( 18216574 )	Tang YG...Rabinowitz YS	2008
9	VSX1 mutational analysis in a series of Italian patients affected by keratoconus: detection of a novel mutation. ( 15623752 )	Bisceglia L...Zelante L	2005
10	VSX1: a gene for posterior polymorphous dystrophy and keratoconus. ( 11978762 )	H?on E...Stone EM	2002

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Genes for Keratoconus 1

Genes related to Keratoconus 1 (2 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	VSX1	Visual System Homeobox 1	Protein Coding	1327.39	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative variation ⁷⁶ Genetic Tests ³⁰ GeneCards inferred via : Disorders Variants (show sections)	11978762 21976959 18216574 (more) 15623752
2	ZNF469	Zinc Finger Protein 469	Protein Coding	418.82	Pathogenic ⁶ GeneCards inferred via : Variants (show sections)
3	HKDC1	Hexokinase Domain Containing 1	Protein Coding	17.09	GeneCards inferred via : Variants (show sections)
4	LOC112268182	Uncharacterized LOC112268182	RNA Gene	8.44	GeneCards inferred via : Variants (show sections)
5	PROB1	Proline Rich Basic Protein 1	Protein Coding	7.09	GeneCards inferred via : Variants (show sections)
6	PCYOX1L	Prenylcysteine Oxidase 1 Like	Protein Coding	7.09	GeneCards inferred via : Variants (show sections)
7	SKP1	S-Phase Kinase Associated Protein 1	Protein Coding	7.09	GeneCards inferred via : Variants (show sections)
8	IL17B	Interleukin 17B	Protein Coding	7.09	GeneCards inferred via : Variants (show sections)

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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

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Expression for Keratoconus 1

Search GEO for disease gene expression data for Keratoconus 1.

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Pathways for Keratoconus 1

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GO Terms for Keratoconus 1

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Sources for Keratoconus 1

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FDA Approved Drugs

²⁰ FMA

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

³⁰ GTR

³¹ HGMD

³² HMDB

³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

⁴⁴ MedlinePlus

⁴⁵ MeSH

⁴⁶ MESH via Orphanet

⁴⁷ MGI

⁴⁸ miR2Disease

⁴⁹ NCBI Bookshelf

⁵⁰ NCI

⁵¹ NCIt

⁵² NDF-RT

⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

⁶² PharmGKB

⁶³ PubMed

⁶⁴ PubMed Health

⁶⁵ QIAGEN

⁶⁶ R&D Systems

⁶⁷ Reactome

⁶⁸ Sino Biological

⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia

Keratoconus 1 (KTCN1)

Aliases & Classifications for Keratoconus 1

MalaCards integrated aliases for Keratoconus 1:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Keratoconus 1

Related Diseases for Keratoconus 1

Diseases in the Keratoconus family:

Diseases related to Keratoconus 1 via text searches within MalaCards or GeneCards Suite gene sharing:

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

Symptoms & Phenotypes for Keratoconus 1

Human phenotypes related to Keratoconus 1:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Keratoconus 1

Genetic Tests for Keratoconus 1

Genetic tests related to Keratoconus 1:

Anatomical Context for Keratoconus 1

MalaCards organs/tissues related to Keratoconus 1:

Publications for Keratoconus 1

Articles related to Keratoconus 1:

Genes for Keratoconus 1

Genes related to Keratoconus 1 (2 elite genes):

Variations for Keratoconus 1

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

ClinVar genetic disease variations for Keratoconus 1:

Expression for Keratoconus 1

Pathways for Keratoconus 1

GO Terms for Keratoconus 1

Sources for Keratoconus 1