MCID: CRN141
MIFTS: 30

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:
49OMIM, 11diseasecard, 67UniProtKB/Swiss-Prot, 10Disease Ontology, 12DISEASES, 51Orphanet, 45NIH Rare Diseases, 22GeneTests, 36MeSH, 24GTR, 65UMLS, 27ICD10, 66UMLS via Orphanet, 28ICD10 via Orphanet, 37MESH via Orphanet, 34MedGen, 61The Human Phenotype Ontology
See all MalaCards sources

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

Name: Corneal Dystrophy, Reis-Bucklers Type 49 11 67
Rbcd 10 45 51 67
Corneal Dystrophy of Bowman Layer Type I 10 51 67
Granular Corneal Dystrophy Type Iii 10 51 67
Reis-Bucklers Corneal Dystrophy 10 12 67
Geographic Corneal Dystrophy 10 51 67
Anterior Limiting Membrane Dystrophy Type I 10 51
Corneal Dystrophy of Bowman Layer, Type 1 22 36
Reis-B├╝cklers Corneal Dystrophy 51 24
Cdb1 45 67
 
Cdrb 45 67
Corneal Dystrophy of Bowman Layer Type 1 45
Superficial Granular Corneal Dystrophy 51
Corneal Dystrophy Reis Bucklers Type 45
Atypical Granular Corneal Dystrophy 51
Reis-Bucklers' Corneal Dystrophy 65
Reis Bucklers Corneal Dystrophy 45
Corneal Dystrophy Geographic 45
Reis Bucklers Dystrophy 45

Characteristics:

Orphanet epidemiological data:

51
rbcd:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood

HPO:

61
corneal dystrophy, reis-bucklers type:
Inheritance: autosomal dominant inheritance


Classifications:

Orphanet: 51 
Rare eye diseases


External Ids:

OMIM49 608470
Disease Ontology10 DOID:0060453
ICD1027 H18.5
Orphanet51 98961
UMLS via Orphanet66 C0339278
ICD10 via Orphanet28 H18.5
MESH via Orphanet37 C535476
MedGen34 C0339278
UMLS65 C0339278

Summaries for Corneal Dystrophy, Reis-Bucklers Type

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UniProtKB/Swiss-Prot:67 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 posterior amorphous 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 is Lysine degradation. Affiliated tissues include eye and endothelial.

Description from OMIM:49 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 Corneal Dystrophy of Bowman Layer, Type 122 TGFBI

Anatomical Context for Corneal Dystrophy, Reis-Bucklers Type

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

33
Eye, Endothelial

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:

67
id Symbol AA change Variation ID SNP ID
1TGFBIp.Arg124LeuVAR_005078

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

idSuper pathwaysScoreTop Affiliating Genes
19.7ALDH7A1, GCDH

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

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Sources for Corneal Dystrophy, Reis-Bucklers Type

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet