CDB2
MCID: CRN067
MIFTS: 25

Corneal Dystrophy Thiel Behnke Type (CDB2) malady

Genetic diseases, Rare diseases, Eye diseases categories
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Summaries for Corneal Dystrophy Thiel Behnke Type

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Sources:
47OMIM, 33MalaCards
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MalaCards: Corneal Dystrophy Thiel Behnke Type, also known as thiel behnke corneal dystrophy, is related to keratitis and corneal dystrophy. 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:47 602082

Aliases & Classifications for Corneal Dystrophy Thiel Behnke Type

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Sources:
43NIH Rare Diseases, 49Orphanet, 22GTR, 47OMIM, 62UMLS, 63UMLS via Orphanet, 36MESH via Orphanet, 26ICD10 via Orphanet, 59SNOMED-CT 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
thiel-behnke corneal dystrophy:
Inheritance: Autosomal dominant; Age of onset: Adolescence / Young adulthood


Aliases & Descriptions:

corneal dystrophy thiel behnke type 43
thiel behnke corneal dystrophy 43 22
thiel-behnke corneal dystrophy 49 62
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
cdb2 43
cdtb 43


External Ids:

UMLS via Orphanet63 C1562894
MESH via Orphanet36 C535942
OMIM47 602082
ICD10 via Orphanet26 H18.5
SNOMED-CT via Orphanet59 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:

idRelated DiseaseScoreTop Affiliating Genes
1keratitis10.5
2corneal dystrophy10.3
3chancroid10.1
4acute diarrhea10.1
5diarrhea10.1
6lattice corneal dystrophy10.0
7corneal granular dystrophy10.0
8retinitis pigmentosa 210.0

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



Diseases related to corneal dystrophy thiel behnke type

Symptoms for Corneal Dystrophy Thiel Behnke Type

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47OMIM
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Symptoms by clinical synopsis from OMIM:

602082

Clinical features from OMIM:

602082

Drugs & Therapeutics for Corneal Dystrophy Thiel Behnke Type

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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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

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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33MalaCards
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MalaCards organs/tissues related to Corneal Dystrophy Thiel Behnke Type:

33
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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Variations for Corneal Dystrophy Thiel Behnke Type

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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 Thiel Behnke Type:

64
id Symbol AA change Variation ID SNP ID
1TGFBIp.Arg555GlnVAR_005082

Clinvar genetic disease variations for Corneal Dystrophy Thiel Behnke Type:

1
id Gene Name Type Significance SNP ID Assembly Location
1TGFBINM_000358.2(TGFBI): c.1664G> A (p.Arg555Gln)single nucleotide variantPathogenicrs121909209GRCh37Chr 5, 135392470: 135392470

Expression for genes affiliated with Corneal Dystrophy Thiel Behnke Type

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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 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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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