CDB1
MCID: CRN065
MIFTS: 21

Corneal Dystrophy of Bowman Layer Type 1 (CDB1) malady

Genetic diseases, Rare diseases, Eye diseases categories

Summaries for Corneal Dystrophy of Bowman Layer Type 1

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Sources:
48OMIM, 34MalaCards
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MalaCards: Corneal Dystrophy of Bowman Layer Type 1, also known as reis bucklers corneal dystrophy, is related to 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:48 608470

Aliases & Classifications for Corneal Dystrophy of Bowman Layer Type 1

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Sources:
44NIH Rare Diseases, 21GeneTests, 50Orphanet, 23GTR, 48OMIM, 63UMLS, 64UMLS via Orphanet, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 37MESH via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Eye diseases
Orphanet: 50 
Rare eye diseases


Characteristics (Orphanet epidemiological data):

50
rbcd:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Childhood


Aliases & Descriptions:

corneal dystrophy of bowman layer type 1 44 21
reis bucklers corneal dystrophy 44 23
rbcd 44 50
anterior limiting membrane dystrophy type i 50
corneal dystrophy of bowman layer type i 50
superficial granular corneal dystrophy 50
corneal dystrophy, reis-bucklers type 48
corneal dystrophy reis bucklers type 44
atypical granular corneal dystrophy 50
granular corneal dystrophy type iii 50
reis-bĆ¼cklers corneal dystrophy 50
reis-bucklers' corneal dystrophy 63
geographic corneal dystrophy 50
corneal dystrophy geographic 44
reis bucklers dystrophy 44
cdb1 44
cdrb 44


External Ids:

UMLS via Orphanet64 C0339278
OMIM48 608470
ICD10 via Orphanet27 H18.5
SNOMED-CT via Orphanet60 231930000
MESH via Orphanet37 C535476

Related Diseases for Corneal Dystrophy of Bowman Layer Type 1

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Sources:
18GeneCards, 19GeneDecks
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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 dystrophy10.7

Symptoms for Corneal Dystrophy of Bowman Layer Type 1

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Sources:
48OMIM
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Clinical features from OMIM:

608470

Drugs & Therapeutics for Corneal Dystrophy of Bowman Layer Type 1

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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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

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Sources:
21GeneTests, 23GTR
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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 121 TGFBI
2 Reis-Bucklers' Corneal Dystrophy23

Anatomical Context for Corneal Dystrophy of Bowman Layer Type 1

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Sources:
34MalaCards
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MalaCards organs/tissues related to Corneal Dystrophy of Bowman Layer Type 1:

34
Eye

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

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Publications for Corneal Dystrophy of Bowman Layer Type 1

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Variations for Corneal Dystrophy of Bowman Layer Type 1

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Corneal Dystrophy of Bowman Layer Type 1:

65
id Symbol AA change Variation ID SNP ID
1TGFBIp.Arg124LeuVAR_005078

Clinvar genetic disease variations for Corneal Dystrophy of Bowman Layer Type 1:

1
id Gene Name 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 of Bowman Layer Type 1

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Sources:
2BioGPS, 16Gene 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

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

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

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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Corneal Dystrophy of Bowman Layer Type 1

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet