MCID: KRT052
MIFTS: 12

Keratoconus 6

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Keratoconus 6

MalaCards integrated aliases for Keratoconus 6:

Name: Keratoconus 6 57 13 73
Ktcn6 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
keratoconus 6:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 614623
MedGen 42 C3553306
SNOMED-CT via HPO 69 263681008 65636009
UMLS 73 C3553306

Summaries for Keratoconus 6

OMIM : 57 Keratoconus is a clinical term used to describe a condition in which the cornea assumes a conical shape as a result of noninflammatory thinning and protrusion. Keratoconus is detected clinically by slit-lamp evaluation, which demonstrates stromal corneal thinning. Other clinical signs may include Vogt striae, iron ring, scarring, retroillumination signs such as the 'Charleaux oil droplet reflex,' and/or scissoring on retinoscopy; in subtle cases, the diagnosis may be confirmed by videokeratography. The estimated prevalence of keratoconus ranges from 50 to 230 per 100,000 in the general population, and approximately 6% to 23.5% of reported cases demonstrate familial transmission. Age of onset is at puberty and the disorder is progressive until the third or fourth decade of life, when it usually arrests. It is a major cause of cornea transplantation in developed countries (summary by Li et al., 2006). For a discussion of genetic heterogeneity of keratoconus, see KTCN1 (148300). (614623)

MalaCards based summary : Keratoconus 6, also known as ktcn6, is related to keratoconus. An important gene associated with Keratoconus 6 is KTCN6 (Keratoconus 6). Related phenotype is keratoconus.

Related Diseases for Keratoconus 6

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

# Related Disease Score Top Affiliating Genes
1 keratoconus 11.1

Symptoms & Phenotypes for Keratoconus 6

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
keratoconus


Clinical features from OMIM:

614623

Human phenotypes related to Keratoconus 6:

32
# Description HPO Frequency HPO Source Accession
1 keratoconus 32 HP:0000563

Drugs & Therapeutics for Keratoconus 6

Search Clinical Trials , NIH Clinical Center for Keratoconus 6

Genetic Tests for Keratoconus 6

Anatomical Context for Keratoconus 6

Publications for Keratoconus 6

Variations for Keratoconus 6

Expression for Keratoconus 6

Search GEO for disease gene expression data for Keratoconus 6.

Pathways for Keratoconus 6

GO Terms for Keratoconus 6

Sources for Keratoconus 6

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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