MCID: CRN247
MIFTS: 32

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:
11Disease Ontology, 12diseasecard, 13DISEASES, 26GTR, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 39MESH via Orphanet, 47NIH Rare Diseases, 51OMIM, 53Orphanet, 61SNOMED-CT, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
See all MalaCards sources

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

Name: Corneal Dystrophy, Thiel-Behnke Type 51 69 12 38
Thiel-Behnke Corneal Dystrophy 11 53 69 13 67
Tbcd 11 47 53 69
Corneal Dystrophy of Bowman Layer Type Ii 11 53 69
Anterior Limiting Membrane Dystrophy Type Ii 11 53
Waardenburg-Jonker Corneal Dystrophy 11 53
Thiel Behnke Corneal Dystrophy 47 26
Cdb2 47 69
 
Cdtb 47 69
Corneal Dystrophy of the Bowman Layer Type 2 47
Corneal Dystrophy Thiel Behnke Type 47
Honeycomb-Shaped Corneal Dystrophy 69
Corneal Dystrophy Honeycomb-Shaped 11
Corneal Dystrophy Honeycomb Shaped 47
Curly Fiber Corneal Dystrophy 53
Honeycomb Corneal Dystrophy 53

Characteristics:

Orphanet epidemiological data:

53
thiel-behnke corneal dystrophy:
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult,Childhood

HPO:

63
corneal dystrophy, thiel-behnke type:
Inheritance: autosomal dominant inheritance

Classifications:

Orphanet: 53 
Rare eye diseases


External Ids:

OMIM51 602082
Disease Ontology11 DOID:0060455
Orphanet53 ORPHA98960
SNOMED-CT61 417065002
ICD10 via Orphanet30 H18.5
MESH via Orphanet39 C535942
UMLS via Orphanet68 C1562894
MedGen36 C1562894

Summaries for Corneal Dystrophy, Thiel-Behnke Type

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UniProtKB/Swiss-Prot:69 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 corneal dystrophy, avellino type, 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:51 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 35)
idRelated DiseaseScoreTop Affiliating Genes
1corneal dystrophy, reis-bucklers type31.7GSN, TGFBI
2corneal dystrophy, avellino type30.9GCDH, TACSTD2, TBCD, TGFBI
3corneal dystrophy, epithelial basement membrane25.1CHST6, COL17A1, COL8A2, GCDH, GSN, KRT12
4hypoparathyroidism-retardation-dysmorphism syndrome10.9
5corneal fleck dystrophy10.9
6retinitis pigmentosa 210.9
7epithelial and subepithelial dystrophy10.9
8epithelial-stromal tgfbi dystrophy10.9
9lattice corneal dystrophy10.9
10corneal dystrophy10.8
11keratitis10.3
12splenic sequestration10.3KRT12, KRT3
13bacterial esophagitis10.3CHST6, TGFBI
14apparent mineralocorticoid excess10.3CHST6, KRT12, TGFBI
15ciliary dyskinesia, primary, 510.2CHST6, KRT12
16angioedema induced by ace inhibitors10.1COL8A2, SLC4A11
17leber congenital amaurosis10.1COL8A2, KRT12, TGFBI
18secondary corneal edema10.1COL8A2, SLC4A11, TGFBI
19corneal endothelial dystrophy 1, autosomal dominant10.0COL8A2, KRT3, SLC4A11
20acute allergic serous otitis media10.0COL8A2, SLC4A11, TGFBI
21liver disease10.0KRT12, KRT3
22corneal dystrophy, lattice type iiia10.0CHST6, GCDH, TBCD, TGFBI
23acute diarrhea9.8
24diarrhea9.8
25kyphoscoliotic heart disease9.8GCDH, KRT12, KRT3, STS, TGFBI
26spinal muscular atrophy9.8
27muscular atrophy9.8
28encephalopathy9.8
29sideroblastic anemia9.7GSN, TACSTD2, TBCD, TGFBI
30epidermolysis bullosa simplex, weber-cockayne type9.7CHST6, COL8A2, KRT12, KRT3, TGFBI
31corneal dystrophy, gelatinous drop-like9.5CHST6, GSN, KRT12, TACSTD2, TGFBI
32stromal dystrophy9.4CHST6, KRT12, KRT3, TACSTD2, TBCD, TGFBI
33cerebral artery occlusion9.0CHST6, COL8A2, KRT12, KRT3, SLC4A11, TACSTD2
34retinal drusen8.0CHST6, COL17A1, COL8A2, GSN, KRT12, KRT3
35acute serous otitis media7.5CHST6, COL8A2, GSN, KRT12, KRT3, LCAT

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

Human phenotypes related to Corneal Dystrophy, Thiel-Behnke Type:

 63
id Description HPO Frequency HPO Source Accession
1 corneal scarring63 HP:0000559
2 photophobia63 HP:0000613
3 corneal dystrophy63 HP:0001131
4 juvenile epithelial corneal dystrophy63 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 Dystrophy26

Anatomical Context for Corneal Dystrophy, Thiel-Behnke Type

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

35
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:

69
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)SNVPathogenicrs121909209GRCh37Chr 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:00015259.3COL8A2, SAT1, TGFBI

Sources for Corneal Dystrophy, Thiel-Behnke Type

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet