MCID: CRN247
MIFTS: 38

Corneal Dystrophy, Thiel-Behnke Type

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Corneal Dystrophy, Thiel-Behnke Type

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

Name: Corneal Dystrophy, Thiel-Behnke Type 53 71 13 41
Thiel-Behnke Corneal Dystrophy 53 12 55 71 28 14 69
Tbcd 53 12 49 55 71
Corneal Dystrophy of Bowman Layer Type Ii 12 55 71
Cdtb 53 49 71
Cdb2 53 49 71
Anterior Limiting Membrane Dystrophy Type Ii 12 55
Waardenburg-Jonker Corneal Dystrophy 12 55
Corneal Dystrophy of Bowman Layer, Type Ii; Cdb2 53
Corneal Dystrophy of the Bowman Layer Type 2 49
Anterior Limiting Membrane Dystrophy Type 2 55
Corneal Dystrophy of Bowman Layer, Type Ii 53
Corneal Dystrophy of Bowman Layer Type 2 55
Thiel-Behnke Corneal Dystrophy; Tbcd 53
Corneal Dystrophy, Honeycomb-Shaped 53
Corneal Dystrophy Thiel Behnke Type 49
Corneal Dystrophy Honeycomb-Shaped 12
Corneal Dystrophy Honeycomb Shaped 49
Honeycomb-Shaped Corneal Dystrophy 71
Thiel Behnke Corneal Dystrophy 49
Curly Fiber Corneal Dystrophy 55
Honeycomb Corneal Dystrophy 55

Characteristics:

Orphanet epidemiological data:

55
thiel-behnke corneal dystrophy
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult,Childhood;

OMIM:

53
Inheritance:
autosomal dominant


HPO:

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


Classifications:

Orphanet: 55  
Rare eye diseases


External Ids:

OMIM 53 602082
Disease Ontology 12 DOID:0060455
SNOMED-CT 64 417065002
Orphanet 55 ORPHA98960
MESH via Orphanet 42 C535942
UMLS via Orphanet 70 C1562894
ICD10 via Orphanet 33 H18.5
MedGen 39 C1562894
UMLS 69 C1562894

Summaries for Corneal Dystrophy, Thiel-Behnke Type

NIH Rare Diseases : 49 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. Last updated: 5/1/2012

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, avellino type, 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 Increased cilium length after serum starvation

UniProtKB/Swiss-Prot : 71 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 42)
# Related Disease Score Top Affiliating Genes
1 epithelial basement membrane dystrophy 31.6 COL8A2 TBCD TGFBI
2 corneal dystrophy, avellino type 31.3 CHST6 GCDH TBCD TGFBI
3 corneal dystrophy, reis-bucklers type 31.1 GCDH TACSTD2 TBCD TGFBI
4 lattice corneal dystrophy 31.1 GSN TACSTD2 TBCD TGFBI
5 epithelial and subepithelial dystrophy 30.7 CHST6 KRT12 KRT3 TACSTD2 TBCD TGFBI
6 epithelial-stromal tgfbi dystrophy 30.1 CHST6 GCDH GSN KRT12 TACSTD2 TBCD
7 corneal dystrophy 29.7 CHST6 COL8A2 GSN KRT12 KRT3 SLC4A11
8 microcephaly 11.4
9 encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum 11.2
10 spastic quadriplegia 11.0
11 corneal dystrophy, fleck 10.9
12 hypoparathyroidism-retardation-dysmorphism syndrome 10.9
13 chronic tic disorder 10.9
14 quadriplegia 10.9
15 retinitis pigmentosa 10.8
16 keratitis, hereditary 10.4
17 punctate epithelial keratoconjunctivitis 10.4
18 limbal stem cell deficiency 10.3 KRT12 KRT3
19 corneal dystrophy, lattice type i 10.3 GSN TGFBI
20 stromal dystrophy 10.2 CHST6 TGFBI
21 macular dystrophy, corneal 10.2 CHST6 KRT12 TGFBI
22 corneal dystrophy, posterior polymorphous, 2 10.2 COL8A2 SLC4A11
23 encephalopathy 10.1
24 diarrhea 10.1
25 corneal dystrophy, posterior polymorphous, 3 10.1 COL8A2 SLC4A11
26 colitis 10.0
27 microscopic colitis 10.0
28 fuchs' endothelial dystrophy 10.0 COL8A2 SLC4A11 TGFBI
29 astigmatism 10.0 KRT12 KRT3
30 corneal edema 10.0 COL8A2 SLC4A11
31 spinal muscular atrophy 9.9
32 muscular atrophy 9.9
33 tubulinopathies 9.9
34 acute diarrhea 9.9
35 ring chromosome y syndrome 9.9
36 corneal granular dystrophy 9.8 GCDH KRT12 KRT3 STS TGFBI
37 corneal dystrophy, meesmann 9.7 CHST6 COL8A2 KRT12 KRT3 TGFBI
38 corneal degeneration 9.7 KRT12 LCAT SAT1 TGFBI
39 keratoconus 9.7 COL8A2 GSN KRT12 KRT3 TGFBI
40 corneal dystrophy, gelatinous drop-like 9.6 CHST6 GSN KRT12 TACSTD2 TGFBI
41 corneal endothelial dystrophy 9.5 CHST6 COL8A2 KRT12 KRT3 SLC4A11 TGFBI
42 corneal disease 8.4 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:

53
Eyes:
juvenile epithelial corneal dystrophy
corneal scarring
corneal pain
photophobia


Clinical features from OMIM:

602082

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

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

25
# 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:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 9.1 KRT12 LCAT SLC4A11 TGFBI CHST6 COL8A2

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 28 TGFBI

Anatomical Context for Corneal Dystrophy, Thiel-Behnke Type

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

38
Eye

Publications for Corneal Dystrophy, Thiel-Behnke Type

Articles related to Corneal Dystrophy, Thiel-Behnke Type:

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

71
# 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

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 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 9.13 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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