CDTB
MCID: CRN247
MIFTS: 32

Corneal Dystrophy, Thiel-Behnke Type (CDTB) malady

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Corneal Dystrophy, Thiel-Behnke Type

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

Name: Corneal Dystrophy, Thiel-Behnke Type 54 66 13 42
Thiel-Behnke Corneal Dystrophy 12 56 66 14 69
Tbcd 12 50 56 66
Corneal Dystrophy of Bowman Layer Type Ii 12 56 66
Anterior Limiting Membrane Dystrophy Type Ii 12 56
Waardenburg-Jonker Corneal Dystrophy 12 56
Thiel Behnke Corneal Dystrophy 50 29
Cdb2 50 66
Cdtb 50 66
Corneal Dystrophy of the Bowman Layer Type 2 50
Corneal Dystrophy Thiel Behnke Type 50
Corneal Dystrophy Honeycomb-Shaped 12
Corneal Dystrophy Honeycomb Shaped 50
Honeycomb-Shaped Corneal Dystrophy 66
Curly Fiber Corneal Dystrophy 56
Honeycomb Corneal Dystrophy 56

Characteristics:

Orphanet epidemiological data:

56
thiel-behnke corneal dystrophy
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult,Childhood;

HPO:

32
corneal dystrophy, thiel-behnke type:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 56  
Rare eye diseases


External Ids:

OMIM 54 602082
Disease Ontology 12 DOID:0060455
SNOMED-CT 64 417065002
Orphanet 56 ORPHA98960
ICD10 via Orphanet 34 H18.5
MESH via Orphanet 43 C535942
UMLS via Orphanet 70 C1562894
MedGen 40 C1562894
UMLS 69 C1562894

Summaries for Corneal Dystrophy, Thiel-Behnke Type

UniProtKB/Swiss-Prot : 66 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, avellino type and epithelial basement membrane dystrophy, and has symptoms including photophobia, corneal dystrophy and corneal scarring. An important gene associated with Corneal Dystrophy, Thiel-Behnke Type is TGFBI (Transforming Growth Factor Beta Induced). Affiliated tissues include eye, and related phenotypes are Increased cilium length after serum starvation and vision/eye

Description from OMIM: 602082

Related Diseases for Corneal Dystrophy, Thiel-Behnke Type

Diseases related to Corneal Dystrophy, Thiel-Behnke Type via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 41)
id Related Disease Score Top Affiliating Genes
1 corneal dystrophy, avellino type 31.6 GSN TGFBI
2 epithelial basement membrane dystrophy 30.7 CHST6 GCDH GSN KRT3 TACSTD2 TBCD
3 encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum 11.0
4 epithelial and subepithelial dystrophy 10.9
5 epithelial-stromal tgfbi dystrophy 10.9
6 lattice corneal dystrophy 10.9
7 hypoparathyroidism-retardation-dysmorphism syndrome 10.9
8 corneal fleck dystrophy 10.9
9 corneal dystrophy, reis-bucklers type 10.9
10 corneal dystrophy, epithelial basement membrane 10.8
11 retinitis pigmentosa 10.8
12 corneal dystrophy 10.8
13 keratitis 10.3
14 apparent mineralocorticoid excess 10.2 CHST6 KRT12 TGFBI
15 corneal dystrophy, posterior polymorphous 2 10.1 COL8A2 SLC4A11
16 lymphedema 10.1 KRT12 KRT3
17 nut midline carcinoma 10.1 COL8A2 TBCD TGFBI
18 myopathy, myofibrillar, 3 10.1 COL8A2 TBCD TGFBI
19 angioedema induced by ace inhibitors 10.1 COL8A2 SLC4A11
20 complex partial epilepsy 10.1 KRT12 SAT1 TGFBI
21 deafness, autosomal recessive 30 10.1 COL8A2 SLC4A11
22 idiopathic corneal edema 10.1 COL8A2 SLC4A11 TGFBI
23 corneal endothelial dystrophy 1, autosomal dominant 10.1 COL8A2 KRT3 SLC4A11
24 chondrocalcinosis 10.1 COL8A2 SLC4A11 TGFBI
25 encephalopathy 10.0
26 chromosome 3q29 microduplication syndrome 10.0 CHST6 TGFBI
27 chronic pulmonary heart disease 10.0 GCDH KRT12 KRT3 STS TGFBI
28 corneal dystrophy, lattice type iiia 9.9 GCDH TACSTD2 TBCD TGFBI
29 cervix uteri carcinoma in situ 9.9 GSN TACSTD2 TBCD TGFBI
30 epidermolysis bullosa simplex, weber-cockayne type 9.9 CHST6 COL8A2 KRT12 KRT3 TGFBI
31 chromosome 1p32-p31 deletion syndrome 9.8 CHST6 GSN KRT12 TACSTD2 TGFBI
32 acute diarrhea 9.8
33 diarrhea 9.8
34 spinal muscular atrophy 9.8
35 muscular atrophy 9.8
36 corneal endothelial dystrophy 9.8 CHST6 KRT12 KRT3 TACSTD2 TBCD TGFBI
37 malignant histiocytic disease 9.5 CHST6 COL8A2 GSN KRT12 KRT3 SLC4A11
38 venous insufficiency 9.2 CHST6 COL8A2 GSN KRT12 KRT3 LCAT
39 ciliary dyskinesia, primary, 5 9.1 CHST6 COL8A2 GSN KRT12 KRT3 LCAT
40 desbuquois dysplasia 8.9 CHST6 COL8A2 GSN KRT12 KRT3 LCAT
41 muscular dystrophy, limb-girdle, type 1a 8.2 CHST6 COL17A1 COL8A2 GCDH GSN KRT12

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

Symptoms by clinical synopsis from OMIM:

602082

Clinical features from OMIM:

602082

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

32
id Description HPO Frequency HPO Source Accession
1 photophobia 32 HP:0000613
2 corneal dystrophy 32 HP:0001131
3 corneal scarring 32 HP:0000559
4 juvenile epithelial corneal dystrophy 32 HP:0007755

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased cilium length after serum starvation GR00149-A-1 9.4 LCAT TACSTD2 GSN
2 Increased cilium length after serum starvation GR00149-A-2 9.4 TACSTD2 GSN LCAT
3 Increased cilium length GR00149-A-3 8.96 GSN LCAT

MGI Mouse Phenotypes related to Corneal Dystrophy, Thiel-Behnke Type:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 9.1 CHST6 COL8A2 KRT12 LCAT SLC4A11 TGFBI

Drugs & Therapeutics for Corneal Dystrophy, Thiel-Behnke Type

Search Clinical Trials , 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

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

id Genetic test Affiliating Genes
1 Thiel-Behnke Corneal Dystrophy 29

Anatomical Context for Corneal Dystrophy, Thiel-Behnke Type

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

39
Eye

Publications for Corneal Dystrophy, Thiel-Behnke Type

Variations for Corneal Dystrophy, Thiel-Behnke Type

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

66
id Symbol AA change Variation ID SNP ID
1 TGFBI p.Arg555Gln VAR_005082 rs121909209

ClinVar genetic disease variations for Corneal Dystrophy, Thiel-Behnke Type:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 TGFBI NM_000358.2(TGFBI): c.1664G> A (p.Arg555Gln) single nucleotide variant Pathogenic rs121909209 GRCh37 Chromosome 5, 135392470: 135392470

Expression for Corneal Dystrophy, Thiel-Behnke Type

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

Pathways for Corneal Dystrophy, Thiel-Behnke Type

GO Terms for Corneal Dystrophy, Thiel-Behnke Type

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

id Name GO ID Score Top Affiliating Genes
1 basement membrane GO:0005604 8.8 COL17A1 COL8A2 TGFBI

Biological processes related to Corneal Dystrophy, Thiel-Behnke Type according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 angiogenesis GO:0001525 9.13 COL8A2 SAT1 TGFBI
2 visual perception GO:0007601 8.8 KRT12 TACSTD2 TGFBI

Sources for Corneal Dystrophy, Thiel-Behnke Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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