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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MalaCards based summary: Corneal Dystrophy of Bowman Layer Type 1, also known as reis bucklers corneal dystrophy, is related to corneal dystrophy, and has symptoms including 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

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Sources:
42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 48Orphanet, 62UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
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Corneal Dystrophy of Bowman Layer Type 1, Aliases & Descriptions:

Name: Corneal Dystrophy of Bowman Layer Type 1 42 20
Reis Bucklers Corneal Dystrophy 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
Corneal Dystrophy Reis Bucklers Type 42
Atypical Granular Corneal Dystrophy 48
 
Granular Corneal Dystrophy Type Iii 48
Reis-Bucklers' Corneal Dystrophy 62
Reis-Bücklers Corneal Dystrophy 48
Corneal Dystrophy Geographic 42
Geographic Corneal Dystrophy 48
Reis-Bucklers Dystrophy 62
Reis Bucklers Dystrophy 42
Cdb1 42
Cdrb 42


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Eye diseases
Orphanet: 48 
Rare eye diseases


Characteristics (Orphanet epidemiological data):

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


External Ids:

OMIM46 608470
MESH via Orphanet35 C535476
ICD10 via Orphanet26 H18.5
UMLS via Orphanet63 C0339278

Related Diseases for Corneal Dystrophy of Bowman Layer Type 1

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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 dystrophy10.8

Symptoms for Corneal Dystrophy of Bowman Layer Type 1

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Clinical features from OMIM:

608470

HPO human phenotypes related to Corneal Dystrophy of Bowman Layer Type 1:

(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 of Bowman Layer Type 1

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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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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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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

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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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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:

6
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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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

Sources for Corneal Dystrophy of Bowman Layer Type 1

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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet