KTCN7
MCID: KRT053
MIFTS: 14

Keratoconus 7 (KTCN7)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Keratoconus 7

MalaCards integrated aliases for Keratoconus 7:

Name: Keratoconus 7 58 13 74
Ktcn7 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
keratoconus 7:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 614629
MedGen 43 C3553308
SNOMED-CT via HPO 70 263681008 65636009
UMLS 74 C3553308

Summaries for Keratoconus 7

OMIM : 58 Keratoconus (KTCN) is a noninflammatory thinning and consequent bulging of the cornea that results in distortion of the corneal surface, altered refractive powers of the eye (both axial and refractive), and reduced visual acuity. In more advanced cases, corneal scarring further reduces visual acuity. Symptoms are highly variable and depend on the stage of the progression of the disorder. The trait has an incidence of approximately 1 in 2,000 individuals and is the most common indication for corneal transplantation in the United States (summary by Gajecka et al., 2009). For a discussion of genetic heterogeneity of keratoconus, see KTCN1 (148300). (614629)

MalaCards based summary : Keratoconus 7, also known as ktcn7, is related to keratoconus. An important gene associated with Keratoconus 7 is KTCN7 (Keratoconus 7). Affiliated tissues include eye, and related phenotype is keratoconus.

Related Diseases for Keratoconus 7

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 7 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 keratoconus 11.3

Symptoms & Phenotypes for Keratoconus 7

Human phenotypes related to Keratoconus 7:

33
# Description HPO Frequency HPO Source Accession
1 keratoconus 33 HP:0000563

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
keratoconus
corneal thinning
conical protrusion of cornea with curvature greater than 47 d on topography
prominent corneal nerves
stromal scar tissue (in some patients)
more

Clinical features from OMIM:

614629

Drugs & Therapeutics for Keratoconus 7

Search Clinical Trials , NIH Clinical Center for Keratoconus 7

Genetic Tests for Keratoconus 7

Anatomical Context for Keratoconus 7

MalaCards organs/tissues related to Keratoconus 7:

42
Eye

Publications for Keratoconus 7

Variations for Keratoconus 7

Expression for Keratoconus 7

Search GEO for disease gene expression data for Keratoconus 7.

Pathways for Keratoconus 7

GO Terms for Keratoconus 7

Sources for Keratoconus 7

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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