CDTB
MCID: CRN247
MIFTS: 40

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 57 75 13 44
Thiel-Behnke Corneal Dystrophy 57 12 59 75 29 6 15 73
Tbcd 57 12 53 59 75
Corneal Dystrophy of Bowman Layer Type Ii 12 59 75
Cdtb 57 53 75
Cdb2 57 53 75
Anterior Limiting Membrane Dystrophy Type Ii 12 59
Waardenburg-Jonker Corneal Dystrophy 12 59
Corneal Dystrophy of Bowman Layer, Type Ii; Cdb2 57
Corneal Dystrophy of the Bowman Layer Type 2 53
Anterior Limiting Membrane Dystrophy Type 2 59
Corneal Dystrophy of Bowman Layer, Type Ii 57
Corneal Dystrophy of Bowman Layer Type 2 59
Dystrophy, Corneal, Thiel-Behnke Type ) 40
Thiel-Behnke Corneal Dystrophy; Tbcd 57
Corneal Dystrophy, Honeycomb-Shaped 57
Corneal Dystrophy Thiel Behnke Type 53
Corneal Dystrophy Honeycomb-Shaped 12
Corneal Dystrophy Honeycomb Shaped 53
Honeycomb-Shaped Corneal Dystrophy 75
Thiel Behnke Corneal Dystrophy 53
Curly Fiber Corneal Dystrophy 59
Honeycomb Corneal Dystrophy 59

Characteristics:

Orphanet epidemiological data:

59
thiel-behnke corneal dystrophy
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult,Childhood;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

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


Classifications:

Orphanet: 59  
Rare eye diseases


External Ids:

OMIM 57 602082
Disease Ontology 12 DOID:0060455
Orphanet 59 ORPHA98960
ICD10 via Orphanet 34 H18.5
MESH via Orphanet 45 C535942
UMLS via Orphanet 74 C1562894
MedGen 42 C1562894
UMLS 73 C1562894

Summaries for Corneal Dystrophy, Thiel-Behnke Type

NIH Rare Diseases : 53 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 corneal dystrophy, reis-bucklers type. An important gene associated with Corneal Dystrophy, Thiel-Behnke Type is TGFBI (Transforming Growth Factor Beta Induced). Affiliated tissues include eye, brain and endothelial, and related phenotypes are photophobia and corneal dystrophy

UniProtKB/Swiss-Prot : 75 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 44)
# Related Disease Score Top Affiliating Genes
1 corneal dystrophy, avellino type 31.6 CHST6 GCDH TBCD TGFBI
2 corneal dystrophy, reis-bucklers type 31.4 GCDH TACSTD2 TBCD TGFBI
3 epithelial basement membrane dystrophy 31.3 COL17A1 COL8A2 TBCD TGFBI
4 epithelial and subepithelial dystrophy 31.2 CHST6 KRT12 KRT3 TACSTD2 TBCD TGFBI
5 epithelial-stromal tgfbi dystrophy 31.0 CHST6 GCDH GSN KRT12 TACSTD2 TBCD
6 corneal dystrophy 30.3 CHST6 COL17A1 COL8A2 GSN KRT12 KRT3
7 microcephaly 11.5
8 encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum 11.4
9 spastic quadriplegia 11.2
10 corneal dystrophy, fleck 11.1
11 hypoparathyroidism-retardation-dysmorphism syndrome 11.1
12 iron overload in africa 11.1
13 chronic tic disorder 11.1
14 quadriplegia 11.1
15 perrault syndrome 1 11.1
16 retinitis pigmentosa 10.9
17 encephalopathy 10.4
18 diarrhea 10.2
19 colitis 10.2
20 microscopic colitis 10.2
21 limbal stem cell deficiency 10.1 KRT12 KRT3
22 tyrosinemia, type ii 10.1 CHST6 KRT12
23 corneal dystrophy, lattice type i 10.1 GSN TGFBI
24 stromal dystrophy 10.1 CHST6 TGFBI
25 macular dystrophy, corneal 10.1 CHST6 KRT12 TGFBI
26 corneal dystrophy, posterior polymorphous, 2 10.1 COL8A2 SLC4A11
27 spinal muscular atrophy 10.1
28 muscular atrophy 10.1
29 fuchs' endothelial dystrophy 10.0 COL8A2 SLC4A11 TGFBI
30 corneal edema 10.0 COL8A2 SLC4A11
31 corneal dystrophy, posterior polymorphous, 1 10.0 COL8A2 SLC4A11 TGFBI
32 acute diarrhea 10.0
33 typhoid fever 10.0
34 periodontitis 10.0
35 astigmatism 10.0 KRT12 KRT3
36 corneal dystrophy, posterior polymorphous, 3 10.0 COL8A2 SLC4A11
37 lattice corneal dystrophy 9.9 GSN TACSTD2 TGFBI
38 corneal dystrophy, meesmann 9.9 CHST6 COL8A2 KRT12 KRT3 TGFBI
39 corneal degeneration 9.9 KRT12 LCAT SAT1 TGFBI
40 keratoconus 9.8 COL8A2 GSN KRT12 KRT3 TGFBI
41 corneal granular dystrophy 9.8 CHST6 GCDH KRT12 KRT3 STS TGFBI
42 corneal endothelial dystrophy 9.8 CHST6 COL8A2 KRT12 KRT3 SLC4A11 TGFBI
43 corneal dystrophy, gelatinous drop-like 9.8 CHST6 GSN KRT12 TACSTD2 TGFBI
44 corneal disease 9.2 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

Symptoms via clinical synopsis from OMIM:

57
Eyes:
photophobia
corneal scarring
juvenile epithelial corneal dystrophy
corneal pain


Clinical features from OMIM:

602082

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

32
# 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
# 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

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

46
# 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:

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

Anatomical Context for Corneal Dystrophy, Thiel-Behnke Type

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

41
Eye, Brain, Endothelial

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:

75
# 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

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 angiogenesis GO:0001525 9.33 COL8A2 SAT1 TGFBI
2 extracellular matrix organization GO:0030198 9.13 COL17A1 COL8A2 TGFBI
3 visual perception GO:0007601 8.8 KRT12 TACSTD2 TGFBI

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 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....