MCID: CRN247
MIFTS: 22

Corneal Dystrophy, Thiel-Behnke Type malady

Genetic diseases, Rare diseases, Eye diseases categories

Aliases & Classifications for Corneal Dystrophy, Thiel-Behnke Type

About this section
Sources:
46OMIM, 9diseasecard, 42NIH Rare Diseases, 48Orphanet, 22GTR, 61UMLS, 34MESH via Orphanet, 26ICD10 via Orphanet, 62UMLS via Orphanet
See all sources

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

Name: Corneal Dystrophy, Thiel-Behnke Type 46 9
Thiel-Behnke Corneal Dystrophy 42 48 22 61
Anterior Limiting Membrane Dystrophy Type Ii 42 48
Corneal Dystrophy of Bowman Layer Type Ii 42 48
Waardenburg-Jonker Corneal Dystrophy 42 48
Curly Fiber Corneal Dystrophy 42 48
Honeycomb Corneal Dystrophy 42 48
Tbcd 42 48
 
Corneal Dystrophy of the Bowman Layer Type 2 42
Corneal Dystrophy of Bowman Layer, Type Ii 46
Corneal Dystrophy Thiel Behnke Type 42
Corneal Dystrophy Honeycomb Shaped 42
Thiel Behnke Corneal Dystrophy 42
Cdtb 42
Cdb2 42


Classifications:

Orphanet: 48 
Rare eye diseases


Characteristics (Orphanet epidemiological data):

48
thiel-behnke corneal dystrophy:
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult,Childhood


External Ids:

OMIM46 602082
Orphanet48 98960
MESH via Orphanet34 C535942
ICD10 via Orphanet26 H18.5
UMLS via Orphanet62 C1562894

Summaries for Corneal Dystrophy, Thiel-Behnke Type

About this section
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:46 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:

idRelated DiseaseScoreTop Affiliating Genes
1keratitis10.5
2corneal dystrophy10.3
3chancroid10.1
4acute diarrhea10.1
5diarrhea10.1
6retinitis pigmentosa 210.1
7lattice corneal dystrophy10.1
8corneal granular dystrophy10.1

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

About this section

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 juvenile epithelial corneal dystrophy HP:0007755

Drugs & Therapeutics for Corneal Dystrophy, Thiel-Behnke Type

About this section

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

About this section

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

About this section

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

31
Eye

Animal Models for Corneal Dystrophy, Thiel-Behnke Type or affiliated genes

About this section

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:

63
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

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

Compounds 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

Sources for Corneal Dystrophy, Thiel-Behnke Type

About this section
2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet