CDTB
MCID: CRN247
MIFTS: 38

Corneal Dystrophy, Thiel-Behnke Type (CDTB)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Corneal Dystrophy, Thiel-Behnke Type

MalaCards integrated aliases for Corneal Dystrophy, Thiel-Behnke Type:

Name: Corneal Dystrophy, Thiel-Behnke Type 56 73 13 43
Thiel-Behnke Corneal Dystrophy 56 12 58 73 29 6 15 71
Tbcd 56 12 52 58 73
Corneal Dystrophy of Bowman Layer Type Ii 12 58 73
Cdtb 56 52 73
Cdb2 56 52 73
Anterior Limiting Membrane Dystrophy Type Ii 12 58
Waardenburg-Jonker Corneal Dystrophy 12 58
Corneal Dystrophy of Bowman Layer, Type Ii; Cdb2 56
Corneal Dystrophy of the Bowman Layer Type 2 52
Anterior Limiting Membrane Dystrophy Type 2 58
Corneal Dystrophy of Bowman Layer, Type Ii 56
Corneal Dystrophy of Bowman Layer Type 2 58
Dystrophy, Corneal, Thiel-Behnke Type 39
Thiel-Behnke Corneal Dystrophy; Tbcd 56
Corneal Dystrophy, Honeycomb-Shaped 56
Corneal Dystrophy Thiel Behnke Type 52
Corneal Dystrophy Honeycomb-Shaped 12
Corneal Dystrophy Honeycomb Shaped 52
Honeycomb-Shaped Corneal Dystrophy 73
Thiel Behnke Corneal Dystrophy 52
Curly Fiber Corneal Dystrophy 58
Honeycomb Corneal Dystrophy 58

Characteristics:

Orphanet epidemiological data:

58
thiel-behnke corneal dystrophy
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult,Childhood;

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
corneal dystrophy, thiel-behnke type:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare eye diseases


External Ids:

Disease Ontology 12 DOID:0060455
OMIM 56 602082
MESH via Orphanet 44 C535942
ICD10 via Orphanet 33 H18.5
UMLS via Orphanet 72 C1562894
Orphanet 58 ORPHA98960
MedGen 41 C1562894
UMLS 71 C1562894

Summaries for Corneal Dystrophy, Thiel-Behnke Type

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 98960 Definition Thiel-Behnke corneal dystrophy (TBCD) is a rare form of superficial corneal dystrophy characterized by sub-epithelial honeycomb-shaped corneal opacities in the superficial cornea, and progressive visual impairment. Epidemiology Prevalence of this form of corneal dystrophy is not known. Cases have been reported in Germany, the USA and in other countries. Clinical description Corneal erosions develop in the first and second decade of life and cause ocular discomfort and pain. The erosions recur and vision gradually becomes impaired. Etiology Thiel-Behnke corneal dystrophy appears to be caused by mutation in the TGFBI gene (5q31), like Reis-Bucklers corneal dystrophy. However, there appears to be genetic heterogeneity as another locus has also been identified on chromosome 10 (10q23-q24). Diagnostic methods Histological examinations reveal a variable thickness of the corneal epithelium. The epithelial basal lamina and Bowman layer display variable degenerative changes. Irregular subepithelial collagenous tissue is also found. Differential diagnosis TBCD is clinically similar to Reis-Bucklers corneal dystrophy (RBCD, see this term), but generally has a less severe course. Tissue examination or molecular genetic analysis can be used to differentiate TBCD and RBCD. Genetic counseling This entity has an autosomal dominant mode of inheritance. Management and treatment The pathologic corneal tissue can be excised surgically or with an eximer laser. Visit the Orphanet disease page for more resources.

MalaCards based summary : Corneal Dystrophy, Thiel-Behnke Type, also known as thiel-behnke corneal dystrophy, is related to epithelial basement membrane dystrophy and corneal dystrophy, fleck. An important gene associated with Corneal Dystrophy, Thiel-Behnke Type is TGFBI (Transforming Growth Factor Beta Induced). The drugs Vancomycin and Anti-Infective Agents have been mentioned in the context of this disorder. Affiliated tissues include cornea and eye, and related phenotypes are photophobia and corneal dystrophy

Disease Ontology : 12 An epithelial-stromal TGFBI dystrophy that is characterized by recurrent erosions and honeycomb-shaped opacification located in the cornea, proteinaceous deposits in the anterior stroma and subepithelium, and progressive early vision loss, and has material basis in autosomal dominant inheritance of heterozygous mutation of transforming growth factor beta-induced gene located in chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased protein deposition and disruption especially of Bowman's membrane of the cornea.

UniProtKB/Swiss-Prot : 73 Corneal dystrophy, Thiel-Behnke type: A bilateral disorder of the cornea characterized by progressive honeycomb-like, subepithelial corneal opacities with recurrent erosions.

More information 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 top 50) (show all 79)
# Related Disease Score Top Affiliating Genes
1 epithelial basement membrane dystrophy 31.5 TGFBI TBCD CHST6
2 corneal dystrophy, fleck 31.2 TGFBI TBCD COL8A2
3 keratitis, hereditary 30.5 KRT3 KRT12
4 corneal dystrophy, lisch epithelial 30.5 UBIAD1 TBCD KRT3 KRT12 CHST6
5 recurrent corneal erosion 30.1 TGFBI TBCD KRT3 KRT12 COL8A2 CHST6
6 corneal dystrophy, reis-bucklers type 29.9 UBIAD1 TGFBI TBCD TACSTD2 KRT3 KRT12
7 corneal endothelial dystrophy 29.8 UBIAD1 TGFBI TBCD KRT3 KRT12 COL8A2
8 lattice corneal dystrophy 29.7 TGFBI TBCD TACSTD2 KRT12 GCDH CHST6
9 granular corneal dystrophy 29.6 TGFBI TBCD KRT3 KRT12 GCDH COL8A2
10 epithelial-stromal tgfbi dystrophy 29.5 TGFBI TBCD KRT3 KRT12 GCDH COL8A2
11 corneal degeneration 29.5 UBIAD1 TGFBI TBCD KRT3 KRT12 COL8A2
12 stromal dystrophy 29.5 UBIAD1 TGFBI TBCD KRT3 KRT12 COL8A2
13 corneal dystrophy, meesmann 29.5 UBIAD1 TGFBI TBCD KRT3 KRT12 COL8A2
14 corneal dystrophy, avellino type 29.4 UBIAD1 TGFBI TBCD KRT3 GCDH COL8A2
15 corneal deposit 28.5 UBIAD1 TGFBI TBCD TACSTD2 KRT3 GCDH
16 epithelial and subepithelial dystrophy 28.5 UBIAD1 TGFBI TBCD TACSTD2 KRT3 KRT12
17 corneal dystrophy, gelatinous drop-like 28.5 UBIAD1 TGFBI TBCD TACSTD2 KRT3 KRT12
18 corneal dystrophy 28.0 UBIAD1 TGFBI TBCD TACSTD2 KRT3 KRT12
19 corneal disease 27.6 UBIAD1 TGFBI TACSTD2 KRT3 KRT12 COL8A2
20 encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum 12.2
21 spastic quadriplegia 11.5
22 quadriplegia 11.4
23 retinitis pigmentosa 11.2
24 retinitis pigmentosa 2 11.2
25 autosomal recessive disease 11.2
26 hypoparathyroidism-retardation-dysmorphism syndrome 11.1
27 iron overload in africa 11.1
28 seborrhea-like dermatitis with psoriasiform elements 11.1
29 corneal dystrophy, subepithelial mucinous 11.1
30 epithelial recurrent erosion dystrophy 10.8
31 punctate epithelial keratoconjunctivitis 10.5
32 superficial corneal dystrophy 10.5
33 microcephaly 10.5
34 diarrhea 10.4
35 encephalopathy 10.4
36 periodontitis, chronic 10.2
37 microscopic colitis 10.2
38 typhoid fever 10.2
39 periodontitis 10.2
40 alacrima, achalasia, and mental retardation syndrome 10.2
41 visual epilepsy 10.2
42 seizure disorder 10.2
43 astigmatism 10.1 KRT3 KRT12
44 acute diarrhea 10.1
45 clostridium difficile colitis 10.1
46 chancroid 10.1
47 aggressive periodontitis 10.1
48 gastroenteritis 10.1
49 human immunodeficiency virus infectious disease 10.1
50 peritonitis 10.1

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

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

31
# Description HPO Frequency HPO Source Accession
1 photophobia 31 HP:0000613
2 corneal dystrophy 31 HP:0001131
3 corneal scarring 31 HP:0000559
4 juvenile epithelial corneal dystrophy 31 HP:0007755

Symptoms via clinical synopsis from OMIM:

56
Eyes:
photophobia
corneal scarring
juvenile epithelial corneal dystrophy
corneal pain

Clinical features from OMIM:

602082

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 9.1 CHST6 COL8A2 FAS KRT12 TGFBI UBIAD1

Drugs & Therapeutics for Corneal Dystrophy, Thiel-Behnke Type

Drugs for Corneal Dystrophy, Thiel-Behnke Type (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Vancomycin Approved 1404-90-6 441141 14969
2 Anti-Infective Agents
3 Anti-Bacterial Agents

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Cross-Sectional Study of the Prevalence of TGFBI Corneal Dystrophies Unknown status NCT02746055
2 Fecal Microbiota Transplant Versus Vancomycin for Treatment of Initial Clostridium Difficile Infection Completed NCT03107169 Vancomycin

Search 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:

# Genetic test Affiliating Genes
1 Thiel-Behnke Corneal Dystrophy 29 TGFBI

Anatomical Context for Corneal Dystrophy, Thiel-Behnke Type

The Foundational Model of Anatomy Ontology organs/tissues related to Corneal Dystrophy, Thiel-Behnke Type:

19
Cornea

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

40
Eye

Publications for Corneal Dystrophy, Thiel-Behnke Type

Articles related to Corneal Dystrophy, Thiel-Behnke Type:

(show all 35)
# Title Authors PMID Year
1
Phenotype-genotype correlations in patients with TGFBI-linked corneal dystrophies in Taiwan. 6 61 56
22355247 2012
2
BIGH3 mutation spectrum in corneal dystrophies. 56 6
11923233 2002
3
Kerato-epithelin mutations in four 5q31-linked corneal dystrophies. 6 56
9054935 1997
4
Linkage mapping of Thiel-Behnke corneal dystrophy (CDB2) to chromosome 10q23-q24. 61 56
9403072 1997
5
Molecular properties of wild-type and mutant betaIG-H3 proteins. 56
11867580 2002
6
Recurrence of corneal dystrophy after excimer laser phototherapeutic keratectomy. 56
10442892 1999
7
Two distinct kerato-epithelin mutations in Reis-Bücklers corneal dystrophy. 6
9780098 1998
8
Mapping of Reis-Bücklers' corneal dystrophy to chromosome 5q. 56
8604731 1996
9
Reevaluation of corneal dystrophies of Bowman's layer and the anterior stroma (Reis-Bücklers and Thiel-Behnke types): a light and electron microscopic study of eight corneas and a review of the literature. 56
7671605 1995
10
[A hitherto unknown subepithelial hereditary corneal dystrophy]. 56
5301630 1967
11
Paraproteinemic keratopathy associated with monoclonal gammopathy of undetermined significance (MGUS): clinical findings in twelve patients including recurrence after keratoplasty. 61
31044553 2019
12
Clinical and genetic update of corneal dystrophies. 61
31301286 2019
13
Prevalence of transforming growth factor β-induced gene corneal dystrophies in Chinese refractive surgery candidates. 61
29233738 2017
14
Combination of phototherapeutic keratectomy and wavefront-guided photorefractive keratectomy for the treatment of Thiel-Behnke corneal dystrophy. 61
28513498 2017
15
A novel phenotype-genotype correlation with an Arg555Trp mutation of TGFBI gene in Thiel-Behnke corneal dystrophy in a Chinese pedigree. 61
26464103 2015
16
IC3D classification of corneal dystrophies--edition 2. 61
25564336 2015
17
Individual phenotypic variances in a family with Thiel-Behnke corneal dystrophy. 61
24113370 2013
18
Clinical outcomes of phototherapeutic keratectomy in eyes with Thiel-Behnke corneal dystrophy. 61
22967865 2013
19
Individual phenotypic variances in a family with Thiel-Behnke corneal dystrophy. 61
22965308 2012
20
TGFBI gene mutations in a Korean population with corneal dystrophy. 61
22876129 2012
21
[Founder effect of two families with TGFBI related Thiel-Behnke corneal dystrophy]. 61
20931522 2010
22
In vivo corneal confocal microscopic findings and gene analysis of three patients with Thiel-Behnke corneal dystrophy. 61
20139295 2010
23
TGFBI (BIGH3) gene mutations in German families: two novel mutations associated with unique clinical and histopathological findings. 61
19001012 2009
24
Arg124Cys mutation of the TGFBI gene in 2 Chinese families with Thiel-Behnke corneal dystrophy. 61
19433713 2009
25
Phenotype associated with the H626P mutation and other changes in the TGFBI gene in Czech families. 61
18259096 2008
26
[TGFBI gene mutation analysis in a Chinese family with Thiel-Behnke corneal dystrophy]. 61
18001570 2007
27
In vivo laser confocal microscopy findings for Bowman's layer dystrophies (Thiel-Behnke and Reis-Bücklers corneal dystrophies). 61
17198850 2007
28
[A research on TGFBI gene mutations in Chinese families with corneal dystrophies]. 61
16767671 2006
29
A clinical and molecular genetic study of autosomal-dominant stromal corneal dystrophy in British population. 61
16118514 2005
30
Disappearance of honeycomb opacity of Thiel-Behnke corneal dystrophy after Thygeson superficial punctate keratitis. 61
16227859 2005
31
Recurrence of Thiel-Behnke corneal dystrophy: an electron microscopic study. 61
15774937 2005
32
Recurrence of chromosome 10 Thiel-Behnke corneal dystrophy (CDB2) after excimer laser phototherapeutic keratectomy or penetrating keratoplasty. 61
15604866 2005
33
Exclusion of the human collagen type XVII (COL17A1) gene as the cause of Thiel-Behnke corneal dystrophy (CDB2) on chromosome 10q23-q25. 61
14562173 2003
34
The molecular genetics of the corneal dystrophies--current status. 61
12700042 2003
35
Advances in the molecular genetics of corneal dystrophies. 61
10612512 1999

Variations for Corneal Dystrophy, Thiel-Behnke Type

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

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TGFBI NM_000358.3(TGFBI):c.1664G>A (p.Arg555Gln)SNV Pathogenic 7867 rs121909209 5:135392470-135392470 5:136056781-136056781
2 TBCD NM_005993.5(TBCD):c.2137C>G (p.His713Asp)SNV Uncertain significance 587404 17:80879412-80879412 17:82921536-82921536
3 TBCD NM_005993.5(TBCD):c.3126G>A (p.Pro1042=)SNV Uncertain significance 587405 17:80890546-80890546 17:82932670-82932670

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

73
# Symbol AA change Variation ID SNP ID
1 TGFBI p.Arg555Gln VAR_005082 rs121909209

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:

# Name GO ID Score Top Affiliating Genes
1 lateral plasma membrane GO:0016328 8.62 TBCD TACSTD2

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

# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 8.8 TGFBI TACSTD2 KRT12

Sources for Corneal Dystrophy, Thiel-Behnke Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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