MCID: CRN141
MIFTS: 31

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 54 71 13
Rbcd 12 50 56 71
Corneal Dystrophy of Bowman Layer Type I 12 56 71
Granular Corneal Dystrophy Type Iii 12 56 71
Reis-Bucklers Corneal Dystrophy 12 71 14
Geographic Corneal Dystrophy 12 56 71
Anterior Limiting Membrane Dystrophy Type I 12 56
Corneal Dystrophy of Bowman Layer, Type 1 24 42
Corneal Dystrophy of Bowman Layer Type 1 50 56
Reis-Bucklers' Corneal Dystrophy 29 69
Cdb1 50 71
Cdrb 50 71
Anterior Limiting Membrane Dystrophy Type 1 56
Superficial Granular Corneal Dystrophy 56
Corneal Dystrophy Reis Bucklers Type 50
Atypical Granular Corneal Dystrophy 56
Granular Corneal Dystrophy Type 3 56
Reis Bucklers Corneal Dystrophy 50
Reis-Bücklers Corneal Dystrophy 56
Corneal Dystrophy Geographic 50
Reis Bucklers Dystrophy 50

Characteristics:

Orphanet epidemiological data:

56
reis-bücklers corneal dystrophy
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

HPO:

32
corneal dystrophy, reis-bucklers type:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 56  
Rare eye diseases


External Ids:

OMIM 54 608470
Disease Ontology 12 DOID:0060453
SNOMED-CT 64 231930000
Orphanet 56 ORPHA98961
MESH via Orphanet 43 C535476
UMLS via Orphanet 70 C0339278
ICD10 via Orphanet 34 H18.5
MedGen 40 C0339278
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 rbcd, 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:

32
id Description HPO Frequency HPO Source Accession
1 strabismus 32 HP:0000486
2 photophobia 32 HP:0000613
3 corneal dystrophy 32 HP:0001131
4 opacification of the corneal stroma 32 HP:0007759
5 corneal erosion 32 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:

id Genetic test Affiliating Genes
1 Reis-Bucklers' Corneal Dystrophy 29
2 Corneal Dystrophy of Bowman Layer, Type 1 24 TGFBI

Anatomical Context for Corneal Dystrophy, Reis-Bucklers Type

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

39
Eye

Publications for Corneal Dystrophy, Reis-Bucklers Type

Variations for Corneal Dystrophy, Reis-Bucklers Type

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

71
id 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
id 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:

id 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:

id 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:

id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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