CDB1
MCID: CRN065
MIFTS: 15

Corneal Dystrophy of Bowman Layer Type 1 (CDB1) malady

Eye category

Summaries for Corneal Dystrophy of Bowman Layer Type 1

Sources:
47OMIM, 33MalaCards
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MalaCards: Corneal Dystrophy of Bowman Layer Type 1, also known as corneal dystrophy reis bucklers type, is related to corneal granular dystrophy. An important gene associated with Corneal Dystrophy of Bowman Layer Type 1 is TGFBI (transforming growth factor, beta-induced, 68kDa).

Description from OMIM:47 608470

Aliases & Classifications for Corneal Dystrophy of Bowman Layer Type 1

Sources:
43NIH Rare Diseases, 20GeneTests, 22GTR, 49Orphanet, 47OMIM, 61UMLS, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

49
rbcd:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Childhood


Aliases & Descriptions:

corneal dystrophy of bowman layer type 1 43 20
corneal dystrophy reis bucklers type 43 22
rbcd 43 49
anterior limiting membrane dystrophy type i 49
corneal dystrophy of bowman layer type i 49
superficial granular corneal dystrophy 49
corneal dystrophy, reis-bucklers type 47
atypical granular corneal dystrophy 49
granular corneal dystrophy type iii 49
reis-bücklers corneal dystrophy 49
reis-bucklers' corneal dystrophy 61
corneal dystrophy geographic 43
geographic corneal dystrophy 49
cdb1 43
cdrb 43


External Ids:

OMIM47 608470
ICD10 via Orphanet26 H18.5

Related Diseases for Corneal Dystrophy of Bowman Layer Type 1

Sources:
17GeneCards, 18GeneDecks
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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

Clinical Features for Corneal Dystrophy of Bowman Layer Type 1

Sources:
47OMIM
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Clinical features from OMIM:

608470

Drugs & Therapeutics for Corneal Dystrophy of Bowman Layer Type 1

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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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

Sources:
20GeneTests, 22GTR
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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

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

Sources:
28inGenious Targeting Laboratory
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Publications for Corneal Dystrophy of Bowman Layer Type 1

Genetic Variations for Corneal Dystrophy of Bowman Layer Type 1

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Corneal Dystrophy of Bowman Layer Type 1:

63
id Symbol AA change Variation SNP ID
1TGFBIp.Arg124LeuVAR_005078

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

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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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

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

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

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Corneal Dystrophy of Bowman Layer Type 1

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet