MCID: CRN141
MIFTS: 31

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:
11Disease Ontology, 12diseasecard, 13DISEASES, 24GeneTests, 26GTR, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 39MESH via Orphanet, 47NIH Rare Diseases, 51OMIM, 53Orphanet, 61SNOMED-CT, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
See all MalaCards sources

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

Name: Corneal Dystrophy, Reis-Bucklers Type 51 69 12
Rbcd 11 47 53 69
Corneal Dystrophy of Bowman Layer Type I 11 53 69
Granular Corneal Dystrophy Type Iii 11 53 69
Reis-Bucklers Corneal Dystrophy 11 69 13
Geographic Corneal Dystrophy 11 53 69
Anterior Limiting Membrane Dystrophy Type I 11 53
Corneal Dystrophy of Bowman Layer, Type 1 24 38
Reis-B├╝cklers Corneal Dystrophy 53 26
Cdb1 47 69
 
Cdrb 47 69
Corneal Dystrophy of Bowman Layer Type 1 47
Superficial Granular Corneal Dystrophy 53
Corneal Dystrophy Reis Bucklers Type 47
Atypical Granular Corneal Dystrophy 53
Granular Corneal Dystrophy Type 3 53
Reis-Bucklers' Corneal Dystrophy 67
Reis Bucklers Corneal Dystrophy 47
Corneal Dystrophy Geographic 47
Reis Bucklers Dystrophy 47

Characteristics:

Orphanet epidemiological data:

53
rbcd:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood

HPO:

63
corneal dystrophy, reis-bucklers type:
Inheritance: autosomal dominant inheritance

Classifications:

Orphanet: 53 
Rare eye diseases


External Ids:

OMIM51 608470
Disease Ontology11 DOID:0060453
Orphanet53 ORPHA98961
SNOMED-CT61 231930000
MESH via Orphanet39 C535476
ICD10 via Orphanet30 H18.5
UMLS via Orphanet68 C0339278
MedGen36 C0339278

Summaries for Corneal Dystrophy, Reis-Bucklers Type

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UniProtKB/Swiss-Prot:69 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 is Lysine degradation. Affiliated tissues include eye, and related mouse phenotype homeostasis/metabolism.

Description from OMIM:51 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

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

 63
id Description HPO Frequency HPO Source Accession
1 strabismus63 HP:0000486
2 photophobia63 HP:0000613
3 corneal dystrophy63 HP:0001131
4 opacification of the corneal stroma63 HP:0007759
5 corneal erosion63 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 Dystrophy26
2 Corneal Dystrophy of Bowman Layer, Type 124 TGFBI

Anatomical Context for Corneal Dystrophy, Reis-Bucklers Type

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

35
Eye

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

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MGI Mouse Phenotypes related to Corneal Dystrophy, Reis-Bucklers Type:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053766.8ACD, CD38, GCDH, KCNJ11, SGCD, TACSTD2

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:

69
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 DELdeletionPathogenicChr na, -1: -1
2TGFBINM_000358.2(TGFBI): c.371G> T (p.Arg124Leu)SNVPathogenicrs121909211GRCh37Chr 5, 135382096: 135382096
3TGFBINM_000358.2(TGFBI): c.1868G> A (p.Gly623Asp)SNVPathogenicrs121909215GRCh37Chr 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
19.8ALDH7A1, GCDH

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:00163289.8TACSTD2, TBCD

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

idNameGO IDScoreTop Affiliating Genes
1lysine catabolic processGO:00065549.8ALDH7A1, GCDH

Sources for Corneal Dystrophy, Reis-Bucklers Type

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet