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

About this section
Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 27GTR, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 48NIH Rare Diseases, 52OMIM, 54Orphanet, 62SNOMED-CT, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

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

Name: Corneal Dystrophy, Thiel-Behnke Type 52 70 12 39
Thiel-Behnke Corneal Dystrophy 11 54 70 13 68
Tbcd 11 48 54 70
Corneal Dystrophy of Bowman Layer Type Ii 11 54 70
Anterior Limiting Membrane Dystrophy Type Ii 11 54
Waardenburg-Jonker Corneal Dystrophy 11 54
Thiel Behnke Corneal Dystrophy 48 27
Cdb2 48 70
 
Cdtb 48 70
Corneal Dystrophy of the Bowman Layer Type 2 48
Corneal Dystrophy Thiel Behnke Type 48
Honeycomb-Shaped Corneal Dystrophy 70
Corneal Dystrophy Honeycomb-Shaped 11
Corneal Dystrophy Honeycomb Shaped 48
Curly Fiber Corneal Dystrophy 54
Honeycomb Corneal Dystrophy 54

Characteristics:

Orphanet epidemiological data:

54
thiel-behnke corneal dystrophy:
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult,Childhood

HPO:

64
corneal dystrophy, thiel-behnke type:
Inheritance: autosomal dominant inheritance

Classifications:

Orphanet: 54 
Rare eye diseases


External Ids:

OMIM52 602082
Disease Ontology11 DOID:0060455
Orphanet54 ORPHA98960
SNOMED-CT62 417065002
ICD10 via Orphanet31 H18.5
MESH via Orphanet40 C535942
UMLS via Orphanet69 C1562894
MedGen37 C1562894

Summaries for Corneal Dystrophy, Thiel-Behnke Type

About this section
UniProtKB/Swiss-Prot:70 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, and related mouse phenotypes are Increased cilium length and Increased cilium length after serum starvation.

Description from OMIM:52 602082

Related Diseases for Corneal Dystrophy, Thiel-Behnke Type

About this section

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 & Phenotypes for Corneal Dystrophy, Thiel-Behnke Type

About this section

Symptoms by clinical synopsis from OMIM:

602082

Clinical features from OMIM:

602082

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

 64
id Description HPO Frequency HPO Source Accession
1 corneal scarring64 HP:0000559
2 photophobia64 HP:0000613
3 corneal dystrophy64 HP:0001131
4 juvenile epithelial corneal dystrophy64 HP:0007755

GenomeRNAi Phenotypes related to Corneal Dystrophy, Thiel-Behnke Type according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00149-A-310.1GSN, LCAT
2GR00149-A-17.4GSN, LCAT, TACSTD2, GSN, LCAT, TACSTD2

Drugs & Therapeutics for Corneal Dystrophy, Thiel-Behnke Type

About this section

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

About this section

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

id Genetic test Affiliating Genes
1 Thiel-Behnke Corneal Dystrophy27

Anatomical Context for Corneal Dystrophy, Thiel-Behnke Type

About this section

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

36
Eye

Publications for Corneal Dystrophy, Thiel-Behnke Type

About this section

Variations for Corneal Dystrophy, Thiel-Behnke Type

About this section

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

70
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

About this section
Search GEO for disease gene expression data for Corneal Dystrophy, Thiel-Behnke Type.

Pathways for genes affiliated with Corneal Dystrophy, Thiel-Behnke Type

About this section

GO Terms for genes affiliated with Corneal Dystrophy, Thiel-Behnke Type

About this section

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

idNameGO IDScoreTop Affiliating Genes
1basement membraneGO:00056049.6COL17A1, 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
1angiogenesisGO:000152510.0COL8A2, SAT1, TGFBI
2visual perceptionGO:00076019.5KRT12, TACSTD2, TGFBI

Sources for Corneal Dystrophy, Thiel-Behnke Type

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet