KTCN9
MCID: KRT075
MIFTS: 16

Keratoconus 9 (KTCN9)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Keratoconus 9

MalaCards integrated aliases for Keratoconus 9:

Name: Keratoconus 9 57 75 6
Ktcn9 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
clinical details based on report of monozygotic twins (last curated april 2018)


Classifications:



External Ids:

OMIM 57 617928
MedGen 42 CN244547
MeSH 44 D007640
SNOMED-CT via HPO 69 13164000

Summaries for Keratoconus 9

OMIM : 57 Keratoconus-9, a degenerative corneal disease with onset during adolescence, is characterized by corneal ectasia, thinning, and cone-shaped protrusion that results in reduced vision (Hao et al., 2017). For a discussion of genetic heterogeneity of keratoconus, see 148300. (617928)

MalaCards based summary : Keratoconus 9, is also known as ktcn9. An important gene associated with Keratoconus 9 is TUBA3D (Tubulin Alpha 3d). Affiliated tissues include eye, and related phenotype is reduced visual acuity.

UniProtKB/Swiss-Prot : 75 Keratoconus 9: An autosomal dominant form of keratoconus, a common degenerative corneal disease characterized by progressive, non-inflammatory thinning of the corneal stroma, corneal ectasia, and cone-shaped corneal protrusion that results in reduced vision.

Related Diseases for Keratoconus 9

Symptoms & Phenotypes for Keratoconus 9

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
reduced visual acuity
corneal thinning
fleischer ring
corneal ectasia
cone-shaped protrusion
more

Clinical features from OMIM:

617928

Human phenotypes related to Keratoconus 9:

32
# Description HPO Frequency HPO Source Accession
1 reduced visual acuity 32 HP:0007663

Drugs & Therapeutics for Keratoconus 9

Search Clinical Trials , NIH Clinical Center for Keratoconus 9

Genetic Tests for Keratoconus 9

Anatomical Context for Keratoconus 9

MalaCards organs/tissues related to Keratoconus 9:

41
Eye

Publications for Keratoconus 9

Variations for Keratoconus 9

ClinVar genetic disease variations for Keratoconus 9:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TUBA3D NM_080386.3(TUBA3D): c.31C> T (p.Gln11Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 2, 132235764: 132235764
2 TUBA3D NM_080386.3(TUBA3D): c.31C> T (p.Gln11Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 2, 131478191: 131478191
3 TUBA3D NM_080386.3(TUBA3D): c.200_201dup (p.Val68Leufs) duplication Pathogenic GRCh37 Chromosome 2, 132235933: 132235934
4 TUBA3D NM_080386.3(TUBA3D): c.200_201dup (p.Val68Leufs) duplication Pathogenic GRCh38 Chromosome 2, 131478360: 131478361

Expression for Keratoconus 9

Search GEO for disease gene expression data for Keratoconus 9.

Pathways for Keratoconus 9

GO Terms for Keratoconus 9

Cellular components related to Keratoconus 9 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 8.62 MZT2A TUBA3D

Sources for Keratoconus 9

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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