CDB2
MCID: CRN067
MIFTS: 25

Corneal Dystrophy Thiel Behnke Type (CDB2) malady

Genetic diseases, Rare diseases, Eye diseases categories
Download this MalaCard

Summaries for Corneal Dystrophy Thiel Behnke Type

About this section


Fully expand this MalaCard
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 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

Aliases & Classifications for Corneal Dystrophy Thiel Behnke Type

About this section
Sources:
42NIH Rare Diseases, 22GTR, 46OMIM, 48Orphanet, 62UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Corneal Dystrophy Thiel Behnke Type, Aliases & Descriptions:

Name: Corneal Dystrophy Thiel Behnke Type 42
Thiel Behnke Corneal Dystrophy 42 22
Thiel-Behnke Corneal Dystrophy 48 62
Tbcd 42 48
Anterior Limiting Membrane Dystrophy Type Ii 48
Corneal Dystrophy of the Bowman Layer Type 2 42
Corneal Dystrophy of Bowman Layer Type Ii 48
 
Corneal Dystrophy, Thiel-Behnke Type 46
Waardenburg-Jonker Corneal Dystrophy 48
Corneal Dystrophy Honeycomb Shaped 42
Curly Fiber Corneal Dystrophy 48
Honeycomb Corneal Dystrophy 48
Cdb2 42
Cdtb 42


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Eye diseases
Orphanet: 48 
Rare eye diseases


Characteristics (Orphanet epidemiological data):

48
thiel-behnke corneal dystrophy:
Inheritance: Autosomal dominant; Age of onset: Adolescence / Young adulthood


External Ids:

OMIM46 602082
MESH via Orphanet35 C535942
ICD10 via Orphanet26 H18.5
UMLS via Orphanet63 C1562894

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/GeneDecks gene sharing:

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

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:

32
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:

64
id Symbol AA change Variation ID SNP ID
1TGFBIp.Arg555GlnVAR_005082

Clinvar genetic disease variations for Corneal Dystrophy Thiel Behnke Type:

6
id Gene Name 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
Expression patterns in normal tissues for genes affiliated with Corneal Dystrophy Thiel Behnke Type

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

Products for genes affiliated with Corneal Dystrophy Thiel Behnke Type

About this section
  • Antibodies
  • Proteins
  • Lysates

Sources for Corneal Dystrophy Thiel Behnke Type

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet