MCID: CRN141
MIFTS: 32

Corneal Dystrophy, Reis-Bucklers Type

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Corneal Dystrophy, Reis-Bucklers Type

MalaCards integrated aliases for Corneal Dystrophy, Reis-Bucklers Type:

Name: Corneal Dystrophy, Reis-Bucklers Type 53 71 13
Reis-Bucklers Corneal Dystrophy 53 12 71 36 14
Rbcd 53 12 49 55 71
Corneal Dystrophy of Bowman Layer Type I 12 55 71
Granular Corneal Dystrophy Type Iii 12 55 71
Geographic Corneal Dystrophy 12 55 71
Cdrb 53 49 71
Cdb1 53 49 71
Anterior Limiting Membrane Dystrophy Type I 12 55
Corneal Dystrophy of Bowman Layer Type 1 49 55
Reis-Bucklers' Corneal Dystrophy 28 69
Corneal Dystrophy of Bowman Layer, Type I; Cdb1 53
Anterior Limiting Membrane Dystrophy Type 1 55
Corneal Dystrophy of Bowman Layer, Type I 53
Corneal Dystrophy of Bowman Layer, Type 1 41
Superficial Granular Corneal Dystrophy 55
Reis-Bucklers Corneal Dystrophy; Rbcd 53
Granular Corneal Dystrophy, Type Iii 53
Corneal Dystrophy Reis Bucklers Type 49
Atypical Granular Corneal Dystrophy 55
Granular Corneal Dystrophy Type 3 55
Reis Bucklers Corneal Dystrophy 49
Reis-Bücklers Corneal Dystrophy 55
Corneal Dystrophy, Geographic 53
Corneal Dystrophy Geographic 49
Reis Bucklers Dystrophy 49

Characteristics:

Orphanet epidemiological data:

55
reis-bücklers corneal dystrophy
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

HPO:

31
corneal dystrophy, reis-bucklers type:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 55  
Rare eye diseases


External Ids:

OMIM 53 608470
Disease Ontology 12 DOID:0060453
SNOMED-CT 64 231930000
Orphanet 55 ORPHA98961
MESH via Orphanet 42 C535476
UMLS via Orphanet 70 C0339278
ICD10 via Orphanet 33 H18.5
MedGen 39 C0339278
KEGG 36 H00951
UMLS 69 C0339278

Summaries for Corneal Dystrophy, Reis-Bucklers Type

UniProtKB/Swiss-Prot : 71 Corneal dystrophy, Reis-Bucklers type: A bilateral disorder of the cornea characterized by intermittent attacks of ocular irritation, recurrent painful corneal erosions starting in childhood, corneal opacities in a geographic pattern at the level of the Bowman layer, and a progressive decrease of visual acuity. The lesions are primarily in Bowman membrane with secondary involvement of the epithelium and superficial part of the stroma. Bowman membrane is almost completely replaced by pathologic materials including disoriented collagen fibrils.

MalaCards based summary : Corneal Dystrophy, Reis-Bucklers Type, also known as reis-bucklers corneal dystrophy, is related to corneal dystrophy, thiel-behnke type and corneal dystrophy, and has symptoms including strabismus, photophobia and corneal dystrophy. An important gene associated with Corneal Dystrophy, Reis-Bucklers Type is TGFBI (Transforming Growth Factor Beta Induced), and among its related pathways/superpathways is Lysine degradation. Affiliated tissues include eye.

Description from OMIM: 608470

Related Diseases for Corneal Dystrophy, Reis-Bucklers Type

Graphical network of the top 20 diseases related to Corneal Dystrophy, Reis-Bucklers Type:



Diseases related to Corneal Dystrophy, Reis-Bucklers Type

Symptoms & Phenotypes for Corneal Dystrophy, Reis-Bucklers Type

Clinical features from OMIM:

608470

Human phenotypes related to Corneal Dystrophy, Reis-Bucklers Type:

31
# Description HPO Frequency HPO Source Accession
1 strabismus 31 HP:0000486
2 photophobia 31 HP:0000613
3 corneal dystrophy 31 HP:0001131
4 opacification of the corneal stroma 31 HP:0007759
5 corneal erosion 31 HP:0200020

Drugs & Therapeutics for Corneal Dystrophy, Reis-Bucklers Type

Search Clinical Trials , NIH Clinical Center for Corneal Dystrophy, Reis-Bucklers Type

Cochrane evidence based reviews: corneal dystrophy of bowman layer, type 1

Genetic Tests for Corneal Dystrophy, Reis-Bucklers Type

Genetic tests related to Corneal Dystrophy, Reis-Bucklers Type:

# Genetic test Affiliating Genes
1 Reis-Bucklers' Corneal Dystrophy 28 TGFBI

Anatomical Context for Corneal Dystrophy, Reis-Bucklers Type

MalaCards organs/tissues related to Corneal Dystrophy, Reis-Bucklers Type:

38
Eye

Publications for Corneal Dystrophy, Reis-Bucklers Type

Articles related to Corneal Dystrophy, Reis-Bucklers Type:

# Title Authors Year
1
[Analysis of TGFBI gene mutation in a Chinese family with atypical Reis-Buckler corneal dystrophy]. ( 19504432 )
2009
2
Kerato-epithelin mutation (R 555 Q) in a case of reis-Bucklers corneal dystrophy ( 10715402 )
2000
3
Two distinct kerato-epithelin mutations in Reis-Bucklers corneal dystrophy. ( 9780098 )
1998

Variations for Corneal Dystrophy, Reis-Bucklers Type

UniProtKB/Swiss-Prot genetic disease variations for Corneal Dystrophy, Reis-Bucklers Type:

71
# Symbol AA change Variation ID SNP ID
1 TGFBI p.Arg124Leu VAR_005078 rs121909211

ClinVar genetic disease variations for Corneal Dystrophy, Reis-Bucklers Type:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TGFBI TGFBI, 3-BP DEL deletion Pathogenic
2 TGFBI NM_000358.2(TGFBI): c.371G> T (p.Arg124Leu) single nucleotide variant Pathogenic rs121909211 GRCh37 Chromosome 5, 135382096: 135382096
3 TGFBI NM_000358.2(TGFBI): c.1868G> A (p.Gly623Asp) single nucleotide variant Pathogenic rs121909215 GRCh37 Chromosome 5, 135396587: 135396587

Expression for Corneal Dystrophy, Reis-Bucklers Type

Search GEO for disease gene expression data for Corneal Dystrophy, Reis-Bucklers Type.

Pathways for Corneal Dystrophy, Reis-Bucklers Type

Pathways related to Corneal Dystrophy, Reis-Bucklers Type according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.39 ALDH7A1 GCDH

GO Terms for Corneal Dystrophy, Reis-Bucklers Type

Cellular components related to Corneal Dystrophy, Reis-Bucklers Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lateral plasma membrane GO:0016328 8.62 TACSTD2 TBCD

Biological processes related to Corneal Dystrophy, Reis-Bucklers Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lysine catabolic process GO:0006554 8.62 ALDH7A1 GCDH

Sources for Corneal Dystrophy, Reis-Bucklers Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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