MCID: CRN247
MIFTS: 23

Corneal Dystrophy, Thiel-Behnke Type malady

Genetic diseases, Rare diseases, Eye diseases categories

Aliases & Classifications for Corneal Dystrophy, Thiel-Behnke Type

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Sources:
49OMIM, 11diseasecard, 67UniProtKB/Swiss-Prot, 45NIH Rare Diseases, 51Orphanet, 24GTR, 65UMLS, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 36MeSH
See all sources

Aliases & Descriptions for Corneal Dystrophy, Thiel-Behnke Type:

Name: Corneal Dystrophy, Thiel-Behnke Type 49 11 67
Thiel-Behnke Corneal Dystrophy 51 24 65 67
Tbcd 45 51 67
Corneal Dystrophy of Bowman Layer Type Ii 51 67
Cdtb 45 67
Cdb2 45 67
Corneal Dystrophy of the Bowman Layer Type 2 45
Anterior Limiting Membrane Dystrophy Type Ii 51
 
Waardenburg-Jonker Corneal Dystrophy 51
Corneal Dystrophy Thiel Behnke Type 45
Corneal Dystrophy Honeycomb Shaped 45
Honeycomb-Shaped Corneal Dystrophy 67
Thiel Behnke Corneal Dystrophy 45
Curly Fiber Corneal Dystrophy 51
Honeycomb Corneal Dystrophy 51


Classifications:

Orphanet: 51 
Rare eye diseases


Characteristics (Orphanet epidemiological data):

51
thiel-behnke corneal dystrophy:
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult,Childhood


External Ids:

OMIM49 602082
Orphanet51 98960
ICD10 via Orphanet28 H18.5
MESH via Orphanet37 C535942
UMLS via Orphanet66 C1562894
MedGen34 C1562894
MeSH36 D003317

Summaries for Corneal Dystrophy, Thiel-Behnke Type

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UniProtKB/Swiss-Prot:67 Corneal dystrophy, Thiel-Behnke type: A bilateral disorder of the cornea characterized by progressive honeycomb-like, subepithelial corneal opacities with recurrent erosions.

MalaCards based summary: Corneal Dystrophy, Thiel-Behnke Type, also known as thiel-behnke corneal dystrophy, is related to keratitis and corneal dystrophy, and has symptoms including autosomal dominant inheritance, corneal scarring and photophobia. 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:49 602082

Related Diseases for Corneal Dystrophy, Thiel-Behnke Type

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Diseases related to Corneal Dystrophy, Thiel-Behnke Type via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1keratitis10.6
2corneal dystrophy10.4
3acute diarrhea10.1
4diarrhea10.1

Symptoms for Corneal Dystrophy, Thiel-Behnke Type

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Symptoms by clinical synopsis from OMIM:

602082

Clinical features from OMIM:

602082

HPO human phenotypes related to Corneal Dystrophy, Thiel-Behnke Type:

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 corneal scarring HP:0000559
3 photophobia HP:0000613
4 corneal dystrophy HP:0001131
5 juvenile epithelial corneal dystrophy HP:0007755

Drugs & Therapeutics for Corneal Dystrophy, Thiel-Behnke Type

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Corneal Dystrophy, Thiel-Behnke Type

Genetic Tests for Corneal Dystrophy, Thiel-Behnke Type

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Genetic tests related to Corneal Dystrophy, Thiel-Behnke Type:

id Genetic test Affiliating Genes
1 Thiel-Behnke Corneal Dystrophy24

Anatomical Context for Corneal Dystrophy, Thiel-Behnke Type

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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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UniProtKB/Swiss-Prot genetic disease variations for Corneal Dystrophy, Thiel-Behnke Type:

67
id Symbol AA change Variation ID SNP ID
1TGFBIp.Arg555GlnVAR_005082

Clinvar genetic disease variations for Corneal Dystrophy, Thiel-Behnke Type:

5
id Gene Variation 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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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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GO Terms for genes affiliated with Corneal Dystrophy, Thiel-Behnke Type

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Sources for Corneal Dystrophy, Thiel-Behnke Type

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet