CDB2
MCID: CRN067
MIFTS: 25

Corneal Dystrophy Thiel Behnke Type (CDB2) malady

Eye diseases category

Summaries for Corneal Dystrophy Thiel Behnke Type

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46OMIM, 32MalaCards
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MalaCards: Corneal Dystrophy Thiel Behnke Type, also known as thiel-behnke corneal dystrophy, is related to corneal dystrophy and keratitis. An important gene associated with Corneal Dystrophy Thiel Behnke Type is TGFBI (transforming growth factor, beta-induced, 68kDa). Affiliated tissues include eye.

Description from OMIM:46 602082

Aliases & Classifications for Corneal Dystrophy Thiel Behnke Type

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Sources:
42NIH Rare Diseases, 22GTR, 48Orphanet, 46OMIM, 60UMLS, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
thiel-behnke corneal dystrophy:
Inheritance: Autosomal dominant; Age of onset: Adolescence / Young adulthood


Aliases & Descriptions:

corneal dystrophy thiel behnke type 42 22
thiel-behnke corneal dystrophy 48 60
tbcd 42 48
anterior limiting membrane dystrophy type ii 48
corneal dystrophy of the bowman layer type 2 42
corneal dystrophy of bowman layer type ii 48
corneal dystrophy, thiel-behnke type 46
waardenburg-jonker corneal dystrophy 48
corneal dystrophy honeycomb shaped 42
curly fiber corneal dystrophy 48
honeycomb corneal dystrophy 48
cdtb 42
cdb2 42


External Ids:

OMIM46 602082
ICD10 via Orphanet26 H18.5
SNOMED-CT via Orphanet57 417065002

Related Diseases for Corneal Dystrophy Thiel Behnke Type

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17GeneCards, 18GeneDecks
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Diseases related to Corneal Dystrophy Thiel Behnke Type via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 22)
idRelated DiseaseScoreTop Affiliating Genes
1corneal dystrophy30.5TGFBI
2keratitis10.5
3superficial keratitis10.5
4aggressive periodontitis10.1
5typhoid fever10.1
6chancroid10.1
7cystitis10.1
8diarrhea10.1
9gingivitis10.1
10periodontitis10.1
11squamous cell carcinoma10.1
12choroiditis10.1
13retinitis pigmentosa10.1
14kidney disease10.1
15retinitis10.1
16retinitis pigmentosa 210.1
17acute diarrhea10.0
18lattice corneal dystrophy10.0
19gilles de la tourette syndrome10.0
20corneal granular dystrophy10.0
21hypertension10.0
22malaria10.0

Graphical network of the top 20 diseases related to Corneal Dystrophy Thiel Behnke Type:



Diseases related to corneal dystrophy thiel behnke type

Clinical Features for Corneal Dystrophy Thiel Behnke Type

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46OMIM
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Clinical features from OMIM:

602082

Clinical synopsis from OMIM:

602082

Drugs & Therapeutics for Corneal Dystrophy Thiel Behnke Type

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

Search ClinicalTrials for Corneal Dystrophy Thiel Behnke Type

Search NIH Clinical Center for Corneal Dystrophy Thiel Behnke Type

Search CenterWatch for Corneal Dystrophy Thiel Behnke Type

Genetic Tests for Corneal Dystrophy Thiel Behnke Type

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22GTR
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Genetic tests related to Corneal Dystrophy Thiel Behnke Type:

id Genetic test Affiliating Genes
1 Thiel-Behnke Corneal Dystrophy22

Anatomical Context for Corneal Dystrophy Thiel Behnke Type

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32MalaCards
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MalaCards organs/tissues related to Corneal Dystrophy Thiel Behnke Type:

32
Eye

Animal Models for Corneal Dystrophy Thiel Behnke Type or affiliated genes

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Publications for Corneal Dystrophy Thiel Behnke Type

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Genetic Variations for Corneal Dystrophy Thiel Behnke Type

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Corneal Dystrophy Thiel Behnke Type:

62
id Symbol AA change Variation ID SNP ID
1TGFBIp.Arg555GlnVAR_005082

Expression for genes affiliated with Corneal Dystrophy Thiel Behnke Type

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Corneal Dystrophy Thiel Behnke Type

Search GEO for disease gene expression data for Corneal Dystrophy Thiel Behnke Type.

Pathways for genes affiliated with Corneal Dystrophy Thiel Behnke Type

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Compounds for genes affiliated with Corneal Dystrophy Thiel Behnke Type

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GO Terms for genes affiliated with Corneal Dystrophy Thiel Behnke Type

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Products for genes affiliated with Corneal Dystrophy Thiel Behnke Type

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Corneal Dystrophy Thiel Behnke Type

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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet