MCID: KRT029
MIFTS: 21

Keratoconus 1

Categories: Genetic diseases, Rare diseases, Eye 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 autosomal dominant inheritance heterogeneous
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). 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.

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:



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 astigmatism 32 HP:0000483
2 keratoconus 32 HP:0000563

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

Publications for Keratoconus 1

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

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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69 SNOMED-CT via HPO
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72 Tocris
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74 UMLS via Orphanet
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