MCID: CRN141
MIFTS: 21

Corneal Dystrophy, Reis-Bucklers Type malady

Genetic diseases, Rare diseases, Eye diseases categories

Aliases & Classifications for Corneal Dystrophy, Reis-Bucklers Type

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Sources:
46OMIM, 9diseasecard, 42NIH Rare Diseases, 20GeneTests, 48Orphanet, 22GTR, 61UMLS, 34MESH via Orphanet, 26ICD10 via Orphanet, 62UMLS via Orphanet
See all sources

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

Name: Corneal Dystrophy, Reis-Bucklers Type 46 9
Corneal Dystrophy of Bowman Layer Type 1 42 20
Reis-Bücklers Corneal Dystrophy 48 22
Rbcd 42 48
Anterior Limiting Membrane Dystrophy Type I 48
Corneal Dystrophy of Bowman Layer, Type I 46
Corneal Dystrophy of Bowman Layer Type I 48
Superficial Granular Corneal Dystrophy 48
Corneal Dystrophy Reis Bucklers Type 42
 
Atypical Granular Corneal Dystrophy 48
Granular Corneal Dystrophy Type Iii 48
Reis-Bucklers' Corneal Dystrophy 61
Reis Bucklers Corneal Dystrophy 42
Geographic Corneal Dystrophy 48
Corneal Dystrophy Geographic 42
Reis Bucklers Dystrophy 42
Cdrb 42
Cdb1 42


Classifications:

Orphanet: 48 
Rare eye diseases


Characteristics (Orphanet epidemiological data):

48
reis-bücklers corneal dystrophy:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood


External Ids:

OMIM46 608470
Orphanet48 98961
MESH via Orphanet34 C535476
ICD10 via Orphanet26 H18.5
UMLS via Orphanet62 C0339278

Summaries for Corneal Dystrophy, Reis-Bucklers Type

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MalaCards based summary: Corneal Dystrophy, Reis-Bucklers Type, also known as corneal dystrophy of bowman layer type 1, is related to corneal dystrophy, and has symptoms including autosomal dominant inheritance, strabismus and photophobia. An important gene associated with Corneal Dystrophy, Reis-Bucklers Type is TGFBI (transforming growth factor, beta-induced, 68kDa). Affiliated tissues include eye.

Description from OMIM:46 608470

Related Diseases for Corneal Dystrophy, Reis-Bucklers Type

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Diseases related to Corneal Dystrophy, Reis-Bucklers Type via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1corneal dystrophy10.8

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:

(show all 6)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 strabismus HP:0000486
3 photophobia HP:0000613
4 corneal dystrophy HP:0001131
5 opacification of the corneal stroma HP:0007759
6 corneal erosion HP:0200020

Drugs & Therapeutics for Corneal Dystrophy, Reis-Bucklers Type

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Drug clinical trials:

Search ClinicalTrials for Corneal Dystrophy, Reis-Bucklers Type

Search NIH Clinical Center for Corneal Dystrophy, Reis-Bucklers Type

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 120 TGFBI
2 Reis-Bucklers' Corneal Dystrophy22

Anatomical Context for Corneal Dystrophy, Reis-Bucklers Type

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

31
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:

63
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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Compounds 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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Sources for Corneal Dystrophy, Reis-Bucklers Type

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet