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

About this section
Sources:
45OMIM, 10diseasecard, 41NIH Rare Diseases, 20GeneTests, 47Orphanet, 22GTR, 60UMLS, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

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

Name: Corneal Dystrophy, Reis-Bucklers Type 45 10
Corneal Dystrophy of Bowman Layer Type 1 41 20
Reis-Bücklers Corneal Dystrophy 47 22
Rbcd 41 47
Anterior Limiting Membrane Dystrophy Type I 47
Corneal Dystrophy of Bowman Layer, Type I 45
Corneal Dystrophy of Bowman Layer Type I 47
Superficial Granular Corneal Dystrophy 47
Corneal Dystrophy Reis Bucklers Type 41
 
Atypical Granular Corneal Dystrophy 47
Granular Corneal Dystrophy Type Iii 47
Reis-Bucklers' Corneal Dystrophy 60
Reis Bucklers Corneal Dystrophy 41
Geographic Corneal Dystrophy 47
Corneal Dystrophy Geographic 41
Reis Bucklers Dystrophy 41
Cdrb 41
Cdb1 41


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Eye diseases
Orphanet: 47 
Rare eye diseases


Characteristics (Orphanet epidemiological data):

47
reis-bücklers corneal dystrophy:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood


External Ids:

OMIM45 608470
Orphanet47 98961
MESH via Orphanet34 C535476
ICD10 via Orphanet26 H18.5
UMLS via Orphanet61 C0339278

Summaries for Corneal Dystrophy, Reis-Bucklers Type

About this section


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:45 608470

Related Diseases for Corneal Dystrophy, Reis-Bucklers Type

About this section

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

About this section


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

About this section

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

About this section

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

About this section

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

31
Eye

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

About this section

Publications for Corneal Dystrophy, Reis-Bucklers Type

About this section

Variations for Corneal Dystrophy, Reis-Bucklers Type

About this section

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

62
id Symbol AA change Variation ID SNP ID
1TGFBIp.Arg124LeuVAR_005078

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

6
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

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

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

About this section

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

About this section

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

About this section

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Corneal Dystrophy, Reis-Bucklers Type

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet