MCID: CRN247
MIFTS: 34

Corneal Dystrophy, Thiel-Behnke Type malady

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Corneal Dystrophy, Thiel-Behnke Type

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Sources:
50OMIM, 68UniProtKB/Swiss-Prot, 12diseasecard, 37MeSH, 11Disease Ontology, 13DISEASES, 52Orphanet, 66UMLS, 46NIH Rare Diseases, 25GTR, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 60SNOMED-CT, 62The Human Phenotype Ontology
See all MalaCards sources

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

Name: Corneal Dystrophy, Thiel-Behnke Type 50 68 12 37
Thiel-Behnke Corneal Dystrophy 11 13 52 68 66
Tbcd 11 46 52 68
Corneal Dystrophy of Bowman Layer Type Ii 11 52 68
Anterior Limiting Membrane Dystrophy Type Ii 11 52
Waardenburg-Jonker Corneal Dystrophy 11 52
Thiel Behnke Corneal Dystrophy 46 25
Cdb2 46 68
 
Cdtb 46 68
Corneal Dystrophy of the Bowman Layer Type 2 46
Corneal Dystrophy Thiel Behnke Type 46
Honeycomb-Shaped Corneal Dystrophy 68
Corneal Dystrophy Honeycomb-Shaped 11
Corneal Dystrophy Honeycomb Shaped 46
Curly Fiber Corneal Dystrophy 52
Honeycomb Corneal Dystrophy 52

Characteristics:

Orphanet epidemiological data:

52
thiel-behnke corneal dystrophy:
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult,Childhood

HPO:

62
corneal dystrophy, thiel-behnke type:
Inheritance: autosomal dominant inheritance


Classifications:

Orphanet: 52 
Rare eye diseases


External Ids:

OMIM50 602082
Disease Ontology11 DOID:0060455
Orphanet52 ORPHA98960
SNOMED-CT60 417065002
ICD10 via Orphanet29 H18.5
MESH via Orphanet38 C535942
UMLS via Orphanet67 C1562894
MedGen35 C1562894

Summaries for Corneal Dystrophy, Thiel-Behnke Type

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UniProtKB/Swiss-Prot:68 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 corneal dystrophy, reis-bucklers type and epithelial basement membrane dystrophy, and has symptoms including corneal scarring, photophobia and corneal dystrophy. An important gene associated with Corneal Dystrophy, Thiel-Behnke Type is TGFBI (Transforming Growth Factor Beta Induced). Affiliated tissues include eye.

Description from OMIM:50 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:

(show all 38)
idRelated DiseaseScoreTop Affiliating Genes
1corneal dystrophy, reis-bucklers type32.1GSN, TGFBI
2epithelial basement membrane dystrophy31.5CHST6, TGFBI
3corneal dystrophy, avellino type31.2GCDH, TACSTD2, TBCD, TGFBI
4hypoparathyroidism-retardation-dysmorphism syndrome11.0
5corneal fleck dystrophy11.0
6retinitis pigmentosa 211.0
7epithelial and subepithelial dystrophy11.0
8epithelial-stromal tgfbi dystrophy11.0
9lattice corneal dystrophy11.0
10corneal dystrophy11.0
11retinitis pigmentosa10.8
12keratitis10.4
13bacterial esophagitis10.4CHST6, TGFBI
14splenic sequestration10.3KRT12, KRT3
15apparent mineralocorticoid excess10.3CHST6, KRT12, TGFBI
16ciliary dyskinesia, primary, 510.3CHST6, KRT12
17liver disease10.2KRT12, KRT3
18desbuquois dysplasia10.2COL8A2, TBCD, TGFBI
19angioedema induced by ace inhibitors10.2COL8A2, SLC4A11
20juvenile spinal muscular atrophy10.2KRT12, SAT1, TGFBI
21leber congenital amaurosis10.1COL8A2, KRT12, TGFBI
22secondary corneal edema10.1COL8A2, SLC4A11, TGFBI
23chromosome 3q29 microduplication syndrome10.1COL8A2, SLC4A11, TGFBI
24acute allergic serous otitis media10.1COL8A2, SLC4A11, TGFBI
25corneal endothelial dystrophy 1, autosomal dominant10.1COL8A2, KRT3, SLC4A11
26corneal dystrophy, lattice type iiia10.0CHST6, GCDH, TBCD, TGFBI
27acute diarrhea10.0
28diarrhea10.0
29kyphoscoliotic heart disease9.8GCDH, KRT12, KRT3, STS, TGFBI
30sideroblastic anemia9.8GSN, TACSTD2, TBCD, TGFBI
31epidermolysis bullosa simplex, weber-cockayne type9.7CHST6, COL8A2, KRT12, KRT3, TGFBI
32corneal dystrophy, gelatinous drop-like9.5CHST6, GSN, KRT12, TACSTD2, TGFBI
33stromal dystrophy9.4CHST6, KRT12, KRT3, TACSTD2, TBCD, TGFBI
34cerebral artery occlusion9.0CHST6, COL8A2, KRT12, KRT3, SLC4A11, TACSTD2
35endothelial dystrophy8.9CHST6, GCDH, GSN, KRT3, TACSTD2, TBCD
36retinal drusen7.8CHST6, COL17A1, COL8A2, GSN, KRT12, KRT3
37acute serous otitis media7.3CHST6, COL8A2, GSN, KRT12, KRT3, LCAT
38corneal dystrophy, epithelial basement membrane5.4CHST6, COL17A1, COL8A2, GCDH, GSN, KRT12

Graphical network of the top 20 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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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 corneal scarring HP:0000559
2 photophobia HP:0000613
3 corneal dystrophy HP:0001131
4 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


Cochrane evidence based reviews: 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 Dystrophy25

Anatomical Context for Corneal Dystrophy, Thiel-Behnke Type

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

34
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:

68
id Symbol AA change Variation ID SNP ID
1TGFBIp.Arg555GlnVAR_005082rs121909209

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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Cellular components related to Corneal Dystrophy, Thiel-Behnke Type according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1basement membraneGO:00056049.1COL17A1, COL8A2, TGFBI
2endoplasmic reticulum lumenGO:00057889.0COL17A1, COL8A2, STS

Biological processes related to Corneal Dystrophy, Thiel-Behnke Type according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1visual perceptionGO:00076019.5KRT12, TACSTD2, TGFBI
2angiogenesisGO:00015259.4COL8A2, SAT1, TGFBI

Sources for Corneal Dystrophy, Thiel-Behnke Type

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet