KTCN9
MCID: KRT075
MIFTS: 20

Keratoconus 9 (KTCN9)

Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Keratoconus 9

MalaCards integrated aliases for Keratoconus 9:

Name: Keratoconus 9 57 72 29 6
Ktcn9 57 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

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


HPO:

31
keratoconus 9:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 617928
OMIM Phenotypic Series 57 PS148300
MeSH 44 D007640
SNOMED-CT via HPO 68 13164000 263681008

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) (Updated 05-Apr-2021)

MalaCards based summary : Keratoconus 9, also known as ktcn9, is related to keratoconus. An important gene associated with Keratoconus 9 is TUBA3D (Tubulin Alpha 3d). Related phenotype is reduced visual acuity.

UniProtKB/Swiss-Prot : 72 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

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

# Related Disease Score Top Affiliating Genes
1 keratoconus 9.5 TUBA3D MZT2A

Symptoms & Phenotypes for Keratoconus 9

Human phenotypes related to Keratoconus 9:

31
# Description HPO Frequency HPO Source Accession
1 reduced visual acuity 31 HP:0007663

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
reduced visual acuity
corneal thinning
fleischer ring
corneal ectasia
cone-shaped protrusion
more

Clinical features from OMIM®:

617928 (Updated 05-Apr-2021)

Drugs & Therapeutics for Keratoconus 9

Search Clinical Trials , NIH Clinical Center for Keratoconus 9

Genetic Tests for Keratoconus 9

Genetic tests related to Keratoconus 9:

# Genetic test Affiliating Genes
1 Keratoconus 9 29 TUBA3D

Anatomical Context for Keratoconus 9

Publications for Keratoconus 9

Articles related to Keratoconus 9:

# Title Authors PMID Year
1
De novo mutations of TUBA3D are associated with keratoconus. 6 57
29051577 2017
2
"Double bubble" deep anterior lamellar keratoplasty for management of corneal stromal pathologies. 61
21805107 2011
3
Magnitude and orientation of Zernike terms in patients with keratoconus. 61
17591874 2007
4
Indications for and outcomes of penetrating keratoplasty performed by resident surgeons. 61
12834672 2003

Variations for Keratoconus 9

ClinVar genetic disease variations for Keratoconus 9:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MZT2A , TUBA3D NM_080386.4(TUBA3D):c.31C>T (p.Gln11Ter) SNV Pathogenic 517113 rs1553500862 GRCh37: 2:132235764-132235764
GRCh38: 2:131478191-131478191
2 MZT2A , TUBA3D NM_080386.4(TUBA3D):c.200_201dup (p.Val68fs) Duplication Pathogenic 517114 rs756938019 GRCh37: 2:132235931-132235932
GRCh38: 2:131478358-131478359

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 TUBA3D MZT2A

Sources for Keratoconus 9

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....