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 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:

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

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 148300

MedGen ⁴² C1835677

SNOMED-CT via HPO ⁶⁹ 263681008 82649003 65636009

UMLS ⁷³ C1835677

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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.

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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	ZNF469 VSX1
6	keratoconus	9.2	ZNF469 VSX1 SKP1 PROB1 IL17B HKDC1

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

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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

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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 ²⁹	VSX1

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Anatomical Context for Keratoconus 1

MalaCards organs/tissues related to Keratoconus 1:

⁴¹

Eye

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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 )	Tiveron M.C....Kara-Junior N.	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 )	NordstrAPm M....Behndig A.	2016
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 )	GutiAcrrez R....GonzA!lez-MAcijome J.M.	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 W.S....Sinjab M.M.	2012

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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 ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ 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	IL17B	Interleukin 17B	Protein Coding	7.09	GeneCards inferred via : Variants (show sections)
5	SKP1	S-Phase Kinase Associated 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	PROB1	Proline Rich Basic Protein 1	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:

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

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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 ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ 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

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Keratoconus 1:

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