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

MCID: KRT029 MIFTS: 21	Keratoconus 1 Categories: Genetic diseases, Rare diseases, Eye diseases
Genes Variations Related diseases Symptoms & Phenotypes Download 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 autosomal dominant inheritance heterogeneous
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). Related phenotypes are astigmatism and keratoconus

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	10.9
2	keratoconus 6	10.9
3	keratoconus 8	10.9
4	keratoconus 7	10.9
5	corneal disease	9.4	VSX1 ZNF469
6	keratoconus	7.9	HKDC1 IL17B VSX1 ZNF469

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	astigmatism ³²		HP:0000483
2	keratoconus ³²		HP:0000563

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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

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Publications for Keratoconus 1

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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	1327.63	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	11978762 15623752 21976959 (more) 18216574
2	ZNF469	Zinc Finger Protein 469	Protein Coding	418.95	Pathogenic ⁶ GeneCards inferred via : Variants (show sections)
3	HKDC1	Hexokinase Domain Containing 1	Protein Coding	17.23	GeneCards inferred via : Variants (show sections)
4	IL17B	Interleukin 17B	Protein Coding	7.23	GeneCards inferred via : Variants (show sections)
5	PCYOX1L	Prenylcysteine Oxidase 1 Like	Protein Coding	7.23	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 all 50)

#	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	ZNF469	NM_001127464.2(ZNF469): c.10843C> T (p.Leu3615=)	single nucleotide variant	Likely pathogenic	rs273585637	GRCh38	Chromosome 16, 88438397: 88438397
4	ZNF469	NM_001127464.2(ZNF469): c.10843C> T (p.Leu3615=)	single nucleotide variant	Likely pathogenic	rs273585637	GRCh37	Chromosome 16, 88504805: 88504805
5	ZNF469	NM_001127464.2(ZNF469): c.11101G> A (p.Gly3701Ser)	single nucleotide variant	Pathogenic	rs273585629	GRCh38	Chromosome 16, 88438655: 88438655
6	ZNF469	NM_001127464.2(ZNF469): c.11101G> A (p.Gly3701Ser)	single nucleotide variant	Pathogenic	rs273585629	GRCh37	Chromosome 16, 88505063: 88505063
7	ZNF469	NM_001127464.2(ZNF469): c.11615C> T (p.Pro3872Leu)	single nucleotide variant	Pathogenic	rs273585630	GRCh38	Chromosome 16, 88439169: 88439169
8	ZNF469	NM_001127464.2(ZNF469): c.11615C> T (p.Pro3872Leu)	single nucleotide variant	Pathogenic	rs273585630	GRCh37	Chromosome 16, 88505577: 88505577
9	ZNF469	NM_001127464.2(ZNF469): c.2478G> T (p.Pro826=)	single nucleotide variant	Likely pathogenic	rs273585634	GRCh38	Chromosome 16, 88429948: 88429948
10	ZNF469	NM_001127464.2(ZNF469): c.2478G> T (p.Pro826=)	single nucleotide variant	Likely pathogenic	rs273585634	GRCh37	Chromosome 16, 88496356: 88496356
11	ZNF469	NM_001127464.2(ZNF469): c.290C> T (p.Pro97Leu)	single nucleotide variant	Pathogenic	rs273585617	GRCh38	Chromosome 16, 88427760: 88427760
12	ZNF469	NM_001127464.2(ZNF469): c.290C> T (p.Pro97Leu)	single nucleotide variant	Pathogenic	rs273585617	GRCh37	Chromosome 16, 88494168: 88494168
13	ZNF469	NM_001127464.2(ZNF469): c.3119A> C (p.Lys1040Thr)	single nucleotide variant	Pathogenic	rs273585619	GRCh38	Chromosome 16, 88430589: 88430589
14	ZNF469	NM_001127464.2(ZNF469): c.3119A> C (p.Lys1040Thr)	single nucleotide variant	Pathogenic	rs273585619	GRCh37	Chromosome 16, 88496997: 88496997
15	ZNF469	NM_001127464.2(ZNF469): c.4363G> T (p.Ala1455Ser)	single nucleotide variant	Pathogenic	rs273585620	GRCh38	Chromosome 16, 88431917: 88431917
16	ZNF469	NM_001127464.2(ZNF469): c.4363G> T (p.Ala1455Ser)	single nucleotide variant	Pathogenic	rs273585620	GRCh37	Chromosome 16, 88498325: 88498325
17	ZNF469	NM_001127464.2(ZNF469): c.6095C> A (p.Ser2032Tyr)	single nucleotide variant	Pathogenic	rs273585623	GRCh38	Chromosome 16, 88433649: 88433649
18	ZNF469	NM_001127464.2(ZNF469): c.6095C> A (p.Ser2032Tyr)	single nucleotide variant	Pathogenic	rs273585623	GRCh37	Chromosome 16, 88500057: 88500057
19	ZNF469	NM_001127464.2(ZNF469): c.6725C> A (p.Ser2242Tyr)	single nucleotide variant	Pathogenic	rs273585624	GRCh38	Chromosome 16, 88434279: 88434279
20	ZNF469	NM_001127464.2(ZNF469): c.6725C> A (p.Ser2242Tyr)	single nucleotide variant	Pathogenic	rs273585624	GRCh37	Chromosome 16, 88500687: 88500687
21	ZNF469	NM_001127464.2(ZNF469): c.720G> A (p.Glu240=)	single nucleotide variant	Likely pathogenic	rs273585632	GRCh37	Chromosome 16, 88494598: 88494598
22	ZNF469	NM_001127464.2(ZNF469): c.720G> A (p.Glu240=)	single nucleotide variant	Likely pathogenic	rs273585632	GRCh38	Chromosome 16, 88428190: 88428190
23	ZNF469	NM_001127464.2(ZNF469): c.77G> C (p.Ser26Thr)	single nucleotide variant	Pathogenic	rs273585616	GRCh38	Chromosome 16, 88427547: 88427547
24	ZNF469	NM_001127464.2(ZNF469): c.77G> C (p.Ser26Thr)	single nucleotide variant	Pathogenic	rs273585616	GRCh37	Chromosome 16, 88493955: 88493955
25	ZNF469	NM_001127464.2(ZNF469): c.8912G> T (p.Gly2971Val)	single nucleotide variant	Pathogenic	rs273585625	GRCh38	Chromosome 16, 88436466: 88436466
26	ZNF469	NM_001127464.2(ZNF469): c.8912G> T (p.Gly2971Val)	single nucleotide variant	Pathogenic	rs273585625	GRCh37	Chromosome 16, 88502874: 88502874
27	ZNF469	NM_001127464.2(ZNF469): c.99G> A (p.Pro33=)	single nucleotide variant	Likely pathogenic	rs273585631	GRCh38	Chromosome 16, 88427569: 88427569
28	ZNF469	NM_001127464.2(ZNF469): c.99G> A (p.Pro33=)	single nucleotide variant	Likely pathogenic	rs273585631	GRCh37	Chromosome 16, 88493977: 88493977
29	ZNF469	NM_001127464.2(ZNF469): c.2063C> A (p.Thr688Asn)	single nucleotide variant	Pathogenic	rs281865146	GRCh38	Chromosome 16, 88429533: 88429533
30	ZNF469	NM_001127464.2(ZNF469): c.2063C> A (p.Thr688Asn)	single nucleotide variant	Pathogenic	rs281865146	GRCh37	Chromosome 16, 88495941: 88495941
31	ZNF469	NM_001127464.2(ZNF469): c.2699C> G (p.Pro900Arg)	single nucleotide variant	Pathogenic	rs273585618	GRCh38	Chromosome 16, 88430169: 88430169
32	ZNF469	NM_001127464.2(ZNF469): c.2699C> G (p.Pro900Arg)	single nucleotide variant	Pathogenic	rs273585618	GRCh37	Chromosome 16, 88496577: 88496577
33	ZNF469	NM_001127464.2(ZNF469): c.2904_2909delGTCGGG (p.Ser969_Gly970del)	deletion	Pathogenic	rs281865147	GRCh38	Chromosome 16, 88430374: 88430379
34	ZNF469	NM_001127464.2(ZNF469): c.2904_2909delGTCGGG (p.Ser969_Gly970del)	deletion	Pathogenic	rs281865147	GRCh37	Chromosome 16, 88496782: 88496787
35	ZNF469	NM_001127464.2(ZNF469): c.337G> A (p.Glu113Lys)	single nucleotide variant	Pathogenic	rs281865144	GRCh38	Chromosome 16, 88427807: 88427807
36	ZNF469	NM_001127464.2(ZNF469): c.337G> A (p.Glu113Lys)	single nucleotide variant	Pathogenic	rs281865144	GRCh37	Chromosome 16, 88494215: 88494215
37	ZNF469	NM_001127464.2(ZNF469): c.5060G> A (p.Arg1687Lys)	single nucleotide variant	Likely pathogenic	rs281865149	GRCh38	Chromosome 16, 88432614: 88432614
38	ZNF469	NM_001127464.2(ZNF469): c.5060G> A (p.Arg1687Lys)	single nucleotide variant	Likely pathogenic	rs281865149	GRCh37	Chromosome 16, 88499022: 88499022
39	ZNF469	NM_001127464.2(ZNF469): c.5597A> T (p.Gln1866Leu)	single nucleotide variant	Pathogenic	rs281865150	GRCh38	Chromosome 16, 88433151: 88433151
40	ZNF469	NM_001127464.2(ZNF469): c.5597A> T (p.Gln1866Leu)	single nucleotide variant	Pathogenic	rs281865150	GRCh37	Chromosome 16, 88499559: 88499559
41	ZNF469	NM_001127464.2(ZNF469): c.7847G> A (p.Arg2616Gln)	single nucleotide variant	Likely pathogenic	rs281865152	GRCh38	Chromosome 16, 88435401: 88435401
42	ZNF469	NM_001127464.2(ZNF469): c.7847G> A (p.Arg2616Gln)	single nucleotide variant	Likely pathogenic	rs281865152	GRCh37	Chromosome 16, 88501809: 88501809
43	SKP1	NM_006930.3(SKP1): c.475T> G (p.Cys159Gly)	single nucleotide variant	Uncertain significance	rs1114167278	GRCh38	Chromosome 5, 134158436: 134158436
44	SKP1	NM_006930.3(SKP1): c.475T> G (p.Cys159Gly)	single nucleotide variant	Uncertain significance	rs1114167278	GRCh37	Chromosome 5, 133494127: 133494127
45	PROB1	NM_001161546.1(PROB1): c.671G> A (p.Gly224Asp)	single nucleotide variant	Uncertain significance	rs1114167279	GRCh37	Chromosome 5, 138730100: 138730100
46	PROB1	NM_001161546.1(PROB1): c.671G> A (p.Gly224Asp)	single nucleotide variant	Uncertain significance	rs1114167279	GRCh38	Chromosome 5, 139394411: 139394411
47	IL17B	NM_014443.2(IL17B): c.527G> A (p.Cys176Tyr)	single nucleotide variant	Uncertain significance	rs201298520	GRCh37	Chromosome 5, 148753948: 148753948
48	IL17B	NM_014443.2(IL17B): c.527G> A (p.Cys176Tyr)	single nucleotide variant	Uncertain significance	rs201298520	GRCh38	Chromosome 5, 149374385: 149374385
49	HKDC1	NM_025130.3(HKDC1): c.850G> A (p.Gly284Ser)	single nucleotide variant	Uncertain significance	rs202105296	GRCh37	Chromosome 10, 71003096: 71003096
50	HKDC1	NM_025130.3(HKDC1): c.850G> A (p.Gly284Ser)	single nucleotide variant	Uncertain significance	rs202105296	GRCh38	Chromosome 10, 69243340: 69243340

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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

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⁷⁶ Wikipedia