CDB2
MCID: CRN067
MIFTS: 25

Corneal Dystrophy Thiel Behnke Type (CDB2) malady

Genetic diseases, Rare diseases, Eye diseases categories

Summaries for Corneal Dystrophy Thiel Behnke Type

About this section
Sources:
48OMIM, 34MalaCards
See all sources

Fully expand this MalaCard

Download this MalaCard
MalaCards: Corneal Dystrophy Thiel Behnke Type, also known as thiel behnke corneal dystrophy, is related to keratitis and corneal dystrophy. 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:48 602082

Aliases & Classifications for Corneal Dystrophy Thiel Behnke Type

About this section
Sources:
44NIH Rare Diseases, 50Orphanet, 23GTR, 48OMIM, 63UMLS, 64UMLS via Orphanet, 37MESH via Orphanet, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Eye diseases
Orphanet: 50 
Rare eye diseases


Characteristics (Orphanet epidemiological data):

50
thiel-behnke corneal dystrophy:
Inheritance: Autosomal dominant; Age of onset: Adolescence / Young adulthood


Aliases & Descriptions:

corneal dystrophy thiel behnke type 44
thiel behnke corneal dystrophy 44 23
thiel-behnke corneal dystrophy 50 63
tbcd 44 50
anterior limiting membrane dystrophy type ii 50
corneal dystrophy of the bowman layer type 2 44
corneal dystrophy of bowman layer type ii 50
corneal dystrophy, thiel-behnke type 48
waardenburg-jonker corneal dystrophy 50
corneal dystrophy honeycomb shaped 44
curly fiber corneal dystrophy 50
honeycomb corneal dystrophy 50
cdb2 44
cdtb 44


External Ids:

UMLS via Orphanet64 C1562894
MESH via Orphanet37 C535942
OMIM48 602082
ICD10 via Orphanet27 H18.5
SNOMED-CT via Orphanet60 417065002

Related Diseases for Corneal Dystrophy Thiel Behnke Type

About this section
Sources:
18GeneCards, 19GeneDecks
See all sources

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
6lattice corneal dystrophy10.0
7corneal granular dystrophy10.0
8retinitis pigmentosa 210.0

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
Sources:
48OMIM
See all sources

Symptoms by clinical synopsis from OMIM:

602082

Clinical features from OMIM:

602082

Drugs & Therapeutics for Corneal Dystrophy Thiel Behnke Type

About this section
Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Corneal Dystrophy Thiel Behnke Type

Drug clinical trials:

Search ClinicalTrials for Corneal Dystrophy Thiel Behnke Type

Search NIH Clinical Center for Corneal Dystrophy Thiel Behnke Type

Search CenterWatch for Corneal Dystrophy Thiel Behnke Type

Genetic Tests for Corneal Dystrophy Thiel Behnke Type

About this section
Sources:
23GTR
See all sources

Genetic tests related to Corneal Dystrophy Thiel Behnke Type:

id Genetic test Affiliating Genes
1 Thiel-Behnke Corneal Dystrophy23

Anatomical Context for Corneal Dystrophy Thiel Behnke Type

About this section
Sources:
34MalaCards
See all sources

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

34
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
Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
See all sources

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

65
id Symbol AA change Variation ID SNP ID
1TGFBIp.Arg555GlnVAR_005082

Clinvar genetic disease variations for Corneal Dystrophy Thiel Behnke Type:

1
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
Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
See all sources
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
  • Antibodies

Sources for Corneal Dystrophy Thiel Behnke Type

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet