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 58 76 13 45
Thiel-Behnke Corneal Dystrophy 58 12 60 76 30 6 15 74
Tbcd 58 12 54 60 76
Corneal Dystrophy of Bowman Layer Type Ii 12 60 76
Cdtb 58 54 76
Cdb2 58 54 76
Anterior Limiting Membrane Dystrophy Type Ii 12 60
Waardenburg-Jonker Corneal Dystrophy 12 60
Corneal Dystrophy of Bowman Layer, Type Ii; Cdb2 58
Corneal Dystrophy of the Bowman Layer Type 2 54
Anterior Limiting Membrane Dystrophy Type 2 60
Corneal Dystrophy of Bowman Layer, Type Ii 58
Corneal Dystrophy of Bowman Layer Type 2 60
Dystrophy, Corneal, Thiel-Behnke Type ) 41
Thiel-Behnke Corneal Dystrophy; Tbcd 58
Corneal Dystrophy, Honeycomb-Shaped 58
Corneal Dystrophy Thiel Behnke Type 54
Corneal Dystrophy Honeycomb-Shaped 12
Corneal Dystrophy Honeycomb Shaped 54
Honeycomb-Shaped Corneal Dystrophy 76
Thiel Behnke Corneal Dystrophy 54
Curly Fiber Corneal Dystrophy 60
Honeycomb Corneal Dystrophy 60

Characteristics:

Orphanet epidemiological data:

60
thiel-behnke corneal dystrophy
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult,Childhood;

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
corneal dystrophy, thiel-behnke type:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare eye diseases


External Ids:

Disease Ontology 12 DOID:0060455
OMIM 58 602082
MESH via Orphanet 46 C535942
ICD10 via Orphanet 35 H18.5
UMLS via Orphanet 75 C1562894
Orphanet 60 ORPHA98960
MedGen 43 C1562894
UMLS 74 C1562894

Summaries for Corneal Dystrophy, Thiel-Behnke Type

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 98960Disease definitionThiel-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.EpidemiologyPrevalence of this form of corneal dystrophy is not known. Cases have been reported in Germany, the USA and in other countries.Clinical descriptionCorneal erosions develop in the first and second decade of life and cause ocular discomfort and pain. The erosions recur and vision gradually becomes impaired.EtiologyThiel-Behnke corneal dystrophy appears to be caused by mutation in the TGFBI gene (5q31), like Reis-Bücklers corneal dystrophy. However, there appears to be genetic heterogeneity as another locus has also been identified on chromosome 10 (10q23-q24).Diagnostic methodsHistological 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 diagnosisTBCD is clinically similar to Reis-Bücklers 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 counselingThis entity has an autosomal dominant mode of inheritance.Management and treatmentThe 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 corneal dystrophy, avellino type and lattice corneal dystrophy. 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 photophobia and corneal dystrophy

UniProtKB/Swiss-Prot : 76 Corneal dystrophy, Thiel-Behnke type: A bilateral disorder of the cornea characterized by progressive honeycomb-like, subepithelial corneal opacities with recurrent erosions.

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 39)
# Related Disease Score Top Affiliating Genes
1 corneal dystrophy, avellino type 31.5 CHST6 GCDH TBCD TGFBI
2 lattice corneal dystrophy 31.4 GSN TACSTD2 TGFBI
3 corneal dystrophy, reis-bucklers type 31.2 GCDH TACSTD2 TBCD TGFBI
4 epithelial basement membrane dystrophy 31.0 COL17A1 COL8A2 TBCD TGFBI
5 epithelial and subepithelial dystrophy 30.9 CHST6 KRT12 KRT3 TACSTD2 TBCD TGFBI
6 epithelial-stromal tgfbi dystrophy 30.5 CHST6 GCDH GSN KRT12 TACSTD2 TBCD
7 corneal dystrophy 29.7 CHST6 COL17A1 COL8A2 GSN KRT12 KRT3
8 microcephaly 11.5
9 encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum 11.4
10 spastic quadriplegia 11.2
11 perrault syndrome 1 11.1
12 corneal dystrophy, fleck 11.1
13 hypoparathyroidism-retardation-dysmorphism syndrome 11.1
14 retinitis pigmentosa 2 11.1
15 iron overload in africa 11.1
16 chronic tic disorder 11.1
17 quadriplegia 11.1
18 encephalopathy 10.4
19 diarrhea 10.3
20 colitis 10.2
21 microscopic colitis 10.2
22 limbal stem cell deficiency 10.2 KRT12 KRT3
23 tyrosinemia, type ii 10.2 CHST6 KRT12
24 corneal dystrophy, lattice type i 10.2 GSN TGFBI
25 macular dystrophy, corneal 10.1 CHST6 KRT12 TGFBI
26 spinal muscular atrophy 10.1
27 muscular atrophy 10.1
28 stromal dystrophy 10.1 CHST6 TGFBI
29 acute diarrhea 10.0
30 typhoid fever 10.0
31 periodontitis 10.0
32 amyloidosis, hereditary, transthyretin-related 10.0 GSN MBTPS2
33 astigmatism 10.0 KRT12 KRT3
34 corneal degeneration 9.8 KRT12 LCAT MBTPS2 TGFBI
35 corneal dystrophy, meesmann 9.7 CHST6 COL8A2 KRT12 KRT3 TGFBI
36 corneal endothelial dystrophy 9.7 CHST6 COL8A2 KRT12 KRT3 TGFBI
37 corneal granular dystrophy 9.6 CHST6 GCDH KRT12 KRT3 STS TGFBI
38 corneal dystrophy, gelatinous drop-like 9.6 CHST6 GSN KRT12 TACSTD2 TGFBI
39 corneal disease 8.8 CHST6 COL8A2 GSN KRT12 KRT3 LCAT

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:

33
# Description HPO Frequency HPO Source Accession
1 photophobia 33 HP:0000613
2 corneal dystrophy 33 HP:0001131
3 corneal scarring 33 HP:0000559
4 juvenile epithelial corneal dystrophy 33 HP:0007755

Symptoms via clinical synopsis from OMIM:

58
Eyes:
photophobia
corneal scarring
juvenile epithelial corneal dystrophy
corneal pain

Clinical features from OMIM:

602082

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

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased cilium length after serum starvation GR00149-A-1 9.4 GSN LCAT TACSTD2
2 Increased cilium length after serum starvation GR00149-A-2 9.4 GSN LCAT TACSTD2
3 Increased cilium length GR00149-A-3 8.96 GSN LCAT

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:

# Genetic test Affiliating Genes
1 Thiel-Behnke Corneal Dystrophy 30 TGFBI

Anatomical Context for Corneal Dystrophy, Thiel-Behnke Type

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

42
Eye

Publications for Corneal Dystrophy, Thiel-Behnke Type

Articles related to Corneal Dystrophy, Thiel-Behnke Type:

(show all 14)
# Title Authors Year
1
Combination of phototherapeutic keratectomy and wavefront-guided photorefractive keratectomy for the treatment of Thiel-Behnke corneal dystrophy. ( 28513498 )
2017
2
A novel phenotype-genotype correlation with an Arg555Trp mutation of TGFBI gene in Thiel-Behnke corneal dystrophy in a Chinese pedigree. ( 26464103 )
2015
3
Clinical outcomes of phototherapeutic keratectomy in eyes with Thiel-Behnke corneal dystrophy. ( 22967865 )
2013
4
Individual phenotypic variances in a family with Thiel-Behnke corneal dystrophy. ( 24113370 )
2013
5
Individual phenotypic variances in a family with Thiel-Behnke corneal dystrophy. ( 22965308 )
2012
6
In vivo corneal confocal microscopic findings and gene analysis of three patients with Thiel-Behnke corneal dystrophy. ( 20139295 )
2010
7
[Founder effect of two families with TGFBI related Thiel-Behnke corneal dystrophy]. ( 20931522 )
2010
8
Arg124Cys mutation of the TGFBI gene in 2 Chinese families with Thiel-Behnke corneal dystrophy. ( 19433713 )
2009
9
[TGFBI gene mutation analysis in a Chinese family with Thiel-Behnke corneal dystrophy]. ( 18001570 )
2007
10
Recurrence of chromosome 10 Thiel-Behnke corneal dystrophy (CDB2) after excimer laser phototherapeutic keratectomy or penetrating keratoplasty. ( 15604866 )
2005
11
Recurrence of Thiel-Behnke corneal dystrophy: an electron microscopic study. ( 15774937 )
2005
12
Disappearance of honeycomb opacity of Thiel-Behnke corneal dystrophy after Thygeson superficial punctate keratitis. ( 16227859 )
2005
13
Exclusion of the human collagen type XVII (COL17A1) gene as the cause of Thiel-Behnke corneal dystrophy (CDB2) on chromosome 10q23-q25. ( 14562173 )
2003
14
Linkage mapping of Thiel-Behnke corneal dystrophy (CDB2) to chromosome 10q23-q24. ( 9403072 )
1997

Variations for Corneal Dystrophy, Thiel-Behnke Type

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

76
# 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
# 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
2 TGFBI NM_000358.2(TGFBI): c.1664G> A (p.Arg555Gln) single nucleotide variant Pathogenic rs121909209 GRCh38 Chromosome 5, 136056781: 136056781
3 TBCD NM_005993.4(TBCD): c.2137C> G (p.His713Asp) single nucleotide variant Uncertain significance GRCh38 Chromosome 17, 82921536: 82921536
4 TBCD NM_005993.4(TBCD): c.2137C> G (p.His713Asp) single nucleotide variant Uncertain significance GRCh37 Chromosome 17, 80879412: 80879412
5 TBCD NM_005993.4(TBCD): c.3126G> A (p.Pro1042=) single nucleotide variant Uncertain significance GRCh37 Chromosome 17, 80890546: 80890546
6 TBCD NM_005993.4(TBCD): c.3126G> A (p.Pro1042=) single nucleotide variant Uncertain significance GRCh38 Chromosome 17, 82932670: 82932670

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 extracellular space GO:0005615 9.43 COL17A1 COL8A2 GSN LCAT TACSTD2 TGFBI
2 basement membrane GO:0005604 8.8 COL17A1 COL8A2 TGFBI

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 9.33 COL17A1 COL8A2 TGFBI
2 visual perception GO:0007601 9.13 KRT12 TACSTD2 TGFBI
3 steroid metabolic process GO:0008202 8.8 LCAT MBTPS2 STS

Molecular functions related to Corneal Dystrophy, Thiel-Behnke Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent conferring tensile strength GO:0030020 8.96 COL17A1 COL8A2
2 extracellular matrix structural constituent GO:0005201 8.8 COL17A1 COL8A2 TGFBI

Sources for Corneal Dystrophy, Thiel-Behnke Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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