MCID: CRN141
MIFTS: 33

Corneal Dystrophy, Reis-Bucklers Type malady

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Corneal Dystrophy, Reis-Bucklers Type

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Sources:
50OMIM, 68UniProtKB/Swiss-Prot, 12diseasecard, 11Disease Ontology, 13DISEASES, 52Orphanet, 46NIH Rare Diseases, 23GeneTests, 37MeSH, 25GTR, 66UMLS, 67UMLS via Orphanet, 29ICD10 via Orphanet, 38MESH via Orphanet, 35MedGen, 60SNOMED-CT, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Corneal Dystrophy, Reis-Bucklers Type:

Name: Corneal Dystrophy, Reis-Bucklers Type 50 68 12
Rbcd 11 46 52 68
Corneal Dystrophy of Bowman Layer Type I 11 52 68
Granular Corneal Dystrophy Type Iii 11 52 68
Reis-Bucklers Corneal Dystrophy 11 13 68
Geographic Corneal Dystrophy 11 52 68
Anterior Limiting Membrane Dystrophy Type I 11 52
Corneal Dystrophy of Bowman Layer, Type 1 23 37
Reis-B├╝cklers Corneal Dystrophy 52 25
Cdb1 46 68
 
Cdrb 46 68
Corneal Dystrophy of Bowman Layer Type 1 46
Superficial Granular Corneal Dystrophy 52
Corneal Dystrophy Reis Bucklers Type 46
Atypical Granular Corneal Dystrophy 52
Reis-Bucklers' Corneal Dystrophy 66
Reis Bucklers Corneal Dystrophy 46
Corneal Dystrophy Geographic 46
Reis Bucklers Dystrophy 46

Characteristics:

Orphanet epidemiological data:

52
rbcd:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood

HPO:

62
corneal dystrophy, reis-bucklers type:
Inheritance: autosomal dominant inheritance


Classifications:

Orphanet: 52 
Rare eye diseases


External Ids:

OMIM50 608470
Disease Ontology11 DOID:0060453
Orphanet52 ORPHA98961
SNOMED-CT60 231930000
UMLS via Orphanet67 C0339278
ICD10 via Orphanet29 H18.5
MESH via Orphanet38 C535476
MedGen35 C0339278

Summaries for Corneal Dystrophy, Reis-Bucklers Type

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UniProtKB/Swiss-Prot:68 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 and kyphoscoliotic heart disease, 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 are Fatty acid metabolism and Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolism. Affiliated tissues include eye.

Description from OMIM:50 608470

Related Diseases for Corneal Dystrophy, Reis-Bucklers Type

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



Diseases related to corneal dystrophy, reis-bucklers type

Symptoms for Corneal Dystrophy, Reis-Bucklers Type

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Clinical features from OMIM:

608470

HPO human phenotypes related to Corneal Dystrophy, Reis-Bucklers Type:

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

Drugs & Therapeutics for Corneal Dystrophy, Reis-Bucklers Type

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Interventional clinical trials:

Search ClinicalTrials, 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

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

id Genetic test Affiliating Genes
1 Reis-Bucklers' Corneal Dystrophy25
2 Corneal Dystrophy of Bowman Layer, Type 123 TGFBI

Anatomical Context for Corneal Dystrophy, Reis-Bucklers Type

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

34
Eye

Animal Models for Corneal Dystrophy, Reis-Bucklers Type or affiliated genes

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Publications for Corneal Dystrophy, Reis-Bucklers Type

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Variations for Corneal Dystrophy, Reis-Bucklers Type

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

68
id Symbol AA change Variation ID SNP ID
1TGFBIp.Arg124LeuVAR_005078rs121909211

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1TGFBITGFBI, 3-BP DELdeletionPathogenic
2TGFBINM_000358.2(TGFBI): c.371G> T (p.Arg124Leu)single nucleotide variantPathogenicrs121909211GRCh37Chr 5, 135382096: 135382096
3TGFBINM_000358.2(TGFBI): c.1868G> A (p.Gly623Asp)single nucleotide variantPathogenicrs121909215GRCh37Chr 5, 135396587: 135396587

Expression for genes affiliated with Corneal Dystrophy, Reis-Bucklers Type

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

Pathways for genes affiliated with Corneal Dystrophy, Reis-Bucklers Type

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GO Terms for genes affiliated with Corneal Dystrophy, Reis-Bucklers Type

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

idNameGO IDScoreTop Affiliating Genes
1lateral plasma membraneGO:00163289.7TACSTD2, TBCD

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

idNameGO IDScoreTop Affiliating Genes
1lysine catabolic processGO:00065549.6ALDH7A1, GCDH

Sources for Corneal Dystrophy, Reis-Bucklers Type

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet