CDB1
MCID: CRN065
MIFTS: 21

Corneal Dystrophy of Bowman Layer Type 1 (CDB1) malady

Genetic diseases, Rare diseases, Eye diseases categories
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Summaries for Corneal Dystrophy of Bowman Layer Type 1

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Sources:
47OMIM, 33MalaCards
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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:47 608470

Aliases & Classifications for Corneal Dystrophy of Bowman Layer Type 1

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Sources:
43NIH Rare Diseases, 20GeneTests, 49Orphanet, 22GTR, 47OMIM, 62UMLS, 63UMLS via Orphanet, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 36MESH via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Eye diseases
Orphanet: 49 
Rare eye diseases


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
reis bucklers corneal dystrophy 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
corneal dystrophy reis bucklers type 43
atypical granular corneal dystrophy 49
granular corneal dystrophy type iii 49
reis-bücklers corneal dystrophy 49
reis-bucklers' corneal dystrophy 62
geographic corneal dystrophy 49
corneal dystrophy geographic 43
reis bucklers dystrophy 43
cdb1 43
cdrb 43


External Ids:

UMLS via Orphanet63 C0339278
OMIM47 608470
ICD10 via Orphanet26 H18.5
SNOMED-CT via Orphanet59 231930000
MESH via Orphanet36 C535476

Related Diseases for Corneal Dystrophy of Bowman Layer Type 1

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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 dystrophy10.7

Symptoms for Corneal Dystrophy of Bowman Layer Type 1

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Sources:
47OMIM
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Clinical features from OMIM:

608470

Drugs & Therapeutics for Corneal Dystrophy of Bowman Layer Type 1

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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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

Genetic Tests for Corneal Dystrophy of Bowman Layer Type 1

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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

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33MalaCards
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MalaCards organs/tissues related to Corneal Dystrophy of Bowman Layer Type 1:

33
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:
64UniProtKB/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:

64
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, 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

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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
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet