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, 27GTR, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 48NIH Rare Diseases, 52OMIM, 54Orphanet, 62SNOMED-CT, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

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

Name: Corneal Dystrophy, Reis-Bucklers Type 52 70 12
Rbcd 11 48 54 70
Corneal Dystrophy of Bowman Layer Type I 11 54 70
Granular Corneal Dystrophy Type Iii 11 54 70
Reis-Bucklers Corneal Dystrophy 11 70 13
Geographic Corneal Dystrophy 11 54 70
Anterior Limiting Membrane Dystrophy Type I 11 54
Corneal Dystrophy of Bowman Layer, Type 1 24 39
Reis-B├╝cklers Corneal Dystrophy 54 27
Cdb1 48 70
 
Cdrb 48 70
Corneal Dystrophy of Bowman Layer Type 1 48
Superficial Granular Corneal Dystrophy 54
Corneal Dystrophy Reis Bucklers Type 48
Atypical Granular Corneal Dystrophy 54
Granular Corneal Dystrophy Type 3 54
Reis-Bucklers' Corneal Dystrophy 68
Reis Bucklers Corneal Dystrophy 48
Corneal Dystrophy Geographic 48
Reis Bucklers Dystrophy 48

Characteristics:

Orphanet epidemiological data:

54
rbcd:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood

HPO:

64
corneal dystrophy, reis-bucklers type:
Inheritance: autosomal dominant inheritance

Classifications:

Orphanet: 54 
Rare eye diseases


External Ids:

OMIM52 608470
Disease Ontology11 DOID:0060453
Orphanet54 ORPHA98961
SNOMED-CT62 231930000
MESH via Orphanet40 C535476
ICD10 via Orphanet31 H18.5
UMLS via Orphanet69 C0339278
MedGen37 C0339278

Summaries for Corneal Dystrophy, Reis-Bucklers Type

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UniProtKB/Swiss-Prot:70 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:52 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 & Phenotypes for Corneal Dystrophy, Reis-Bucklers Type

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Clinical features from OMIM:

608470

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

 64
id Description HPO Frequency HPO Source Accession
1 strabismus64 HP:0000486
2 photophobia64 HP:0000613
3 corneal dystrophy64 HP:0001131
4 opacification of the corneal stroma64 HP:0007759
5 corneal erosion64 HP:0200020

MGI Mouse Phenotypes related to Corneal Dystrophy, Reis-Bucklers Type according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053766.8ACD, CD38, GCDH, KCNJ11, SGCD, TACSTD2

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 Dystrophy27
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:

36
Eye

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:

70
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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet