CDB2
MCID: CRN067
MIFTS: 20

Corneal Dystrophy Thiel Behnke Type (CDB2) malady

Eye category

Summaries for Corneal Dystrophy Thiel Behnke Type

Sources:
47OMIM, 33MalaCards
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MalaCards: Corneal Dystrophy Thiel Behnke Type, also known as thiel-behnke corneal dystrophy, is related to superficial keratitis and aggressive periodontitis. An important gene associated with Corneal Dystrophy Thiel Behnke Type is TGFBI (transforming growth factor, beta-induced, 68kDa).

Description from OMIM:47 602082

Aliases & Classifications for Corneal Dystrophy Thiel Behnke Type

Sources:
43NIH Rare Diseases, 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
thiel-behnke corneal dystrophy:
Inheritance: Autosomal dominant; Age of onset: Adolescence / Young adulthood


Aliases & Descriptions:

corneal dystrophy thiel behnke type 43 22
thiel-behnke corneal dystrophy 49 61
tbcd 43 49
anterior limiting membrane dystrophy type ii 49
corneal dystrophy of the bowman layer type 2 43
corneal dystrophy of bowman layer type ii 49
corneal dystrophy, thiel-behnke type 47
waardenburg-jonker corneal dystrophy 49
corneal dystrophy honeycomb shaped 43
curly fiber corneal dystrophy 49
honeycomb corneal dystrophy 49
cdtb 43
cdb2 43


External Ids:

OMIM47 602082
ICD10 via Orphanet26 H18.5

Related Diseases for Corneal Dystrophy Thiel Behnke Type

Sources:
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 14)
idRelated DiseaseScoreTop Affiliating Genes
1superficial keratitis10.5
2aggressive periodontitis10.2
3typhoid fever10.2
4chancroid10.2
5squamous cell carcinoma10.2
6clostridium difficile10.2
7choroiditis10.2
8retinitis pigmentosa10.2
9retinitis pigmentosa 210.2
10acute diarrhea10.0
11lattice corneal dystrophy10.0
12gilles de la tourette syndrome10.0
13corneal granular dystrophy10.0
14corneal dystrophy10.0TGFBI

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



Diseases related to corneal dystrophy thiel behnke type

Clinical Features for Corneal Dystrophy Thiel Behnke Type

Sources:
47OMIM
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Clinical features from OMIM:

602082

Clinical synopsis from OMIM:

602082

Drugs & Therapeutics for Corneal Dystrophy Thiel Behnke Type

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

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Drug clinical trials:

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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

Sources:
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

Animal Models for Corneal Dystrophy Thiel Behnke Type or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Corneal Dystrophy Thiel Behnke Type

Sources:
51PubMed
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Articles related to Corneal Dystrophy Thiel Behnke Type:

idTitleAuthorsYear
1
Exclusion of the human collagen type XVII (COL17A1) gene as the cause of Thiel-Behnke corneal dystrophy (CDB2) on chromosome 10q23-q25. (14562173)
2003

Genetic Variations for Corneal Dystrophy Thiel Behnke Type

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Corneal Dystrophy Thiel Behnke Type:

63
id Symbol AA change Variation SNP ID
1TGFBIp.Arg555GlnVAR_005082

Expression for genes affiliated with Corneal Dystrophy Thiel Behnke Type

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

Compounds for genes affiliated with Corneal Dystrophy Thiel Behnke Type

GO Terms for genes affiliated with Corneal Dystrophy Thiel Behnke Type

Products for genes affiliated with Corneal Dystrophy Thiel Behnke Type

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  • Proteins
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Sources for Corneal Dystrophy Thiel Behnke Type

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