CDB1
MCID: CRN065
MIFTS: 21

Corneal Dystrophy of Bowman Layer Type 1 (CDB1) malady

Eye diseases category

Summaries for Corneal Dystrophy of Bowman Layer Type 1

About this section
Sources:
46OMIM, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
MalaCards: Corneal Dystrophy of Bowman Layer Type 1, also known as corneal dystrophy reis bucklers type, is related to corneal granular dystrophy and corneal dystrophy. An important gene associated with Corneal Dystrophy of Bowman Layer Type 1 is TGFBI (transforming growth factor, beta-induced, 68kDa). Affiliated tissues include eye.

Description from OMIM:46 608470

Aliases & Classifications for Corneal Dystrophy of Bowman Layer Type 1

About this section
Sources:
42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 48Orphanet, 60UMLS, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Eye diseases


Characteristics (Orphanet epidemiological data):

48
rbcd:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Childhood


Aliases & Descriptions:

corneal dystrophy of bowman layer type 1 42 20
corneal dystrophy reis bucklers type 42 22
rbcd 42 48
anterior limiting membrane dystrophy type i 48
corneal dystrophy of bowman layer type i 48
superficial granular corneal dystrophy 48
corneal dystrophy, reis-bucklers type 46
atypical granular corneal dystrophy 48
granular corneal dystrophy type iii 48
reis-bücklers corneal dystrophy 48
reis-bucklers' corneal dystrophy 60
corneal dystrophy geographic 42
geographic corneal dystrophy 48
cdb1 42
cdrb 42


External Ids:

OMIM46 608470
ICD10 via Orphanet26 H18.5
SNOMED-CT via Orphanet57 231930000

Related Diseases for Corneal Dystrophy of Bowman Layer Type 1

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases related to Corneal Dystrophy of Bowman Layer Type 1 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1corneal granular dystrophy10.4
2corneal dystrophy10.4

Clinical Features for Corneal Dystrophy of Bowman Layer Type 1

About this section
Sources:
46OMIM
See all sources

Clinical features from OMIM:

608470

Drugs & Therapeutics for Corneal Dystrophy of Bowman Layer Type 1

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Corneal Dystrophy of Bowman Layer Type 1

Drug clinical trials:

Search ClinicalTrials for Corneal Dystrophy of Bowman Layer Type 1

Search NIH Clinical Center for Corneal Dystrophy of Bowman Layer Type 1

Search CenterWatch for Corneal Dystrophy of Bowman Layer Type 1

Genetic Tests for Corneal Dystrophy of Bowman Layer Type 1

About this section
Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Corneal Dystrophy of Bowman Layer Type 1:

id Genetic test Affiliating Genes
1 Corneal Dystrophy of Bowman Layer, Type 120 TGFBI
2 Reis-Bucklers' Corneal Dystrophy22

Anatomical Context for Corneal Dystrophy of Bowman Layer Type 1

About this section
Sources:
32MalaCards
See all sources

MalaCards organs/tissues related to Corneal Dystrophy of Bowman Layer Type 1:

32
Eye

Animal Models for Corneal Dystrophy of Bowman Layer Type 1 or affiliated genes

About this section

Publications for Corneal Dystrophy of Bowman Layer Type 1

About this section

Genetic Variations for Corneal Dystrophy of Bowman Layer Type 1

About this section
Sources:
62UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Corneal Dystrophy of Bowman Layer Type 1:

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

Expression for genes affiliated with Corneal Dystrophy of Bowman Layer Type 1

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Corneal Dystrophy of Bowman Layer Type 1

Search GEO for disease gene expression data for Corneal Dystrophy of Bowman Layer Type 1.

Pathways for genes affiliated with Corneal Dystrophy of Bowman Layer Type 1

About this section

Compounds for genes affiliated with Corneal Dystrophy of Bowman Layer Type 1

About this section

GO Terms for genes affiliated with Corneal Dystrophy of Bowman Layer Type 1

About this section

Products for genes affiliated with Corneal Dystrophy of Bowman Layer Type 1

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Corneal Dystrophy of Bowman Layer Type 1

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet