MCID: CRN247
MIFTS: 32

Corneal Dystrophy, Thiel-Behnke Type malady

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Corneal Dystrophy, Thiel-Behnke Type

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Sources:
49OMIM, 11diseasecard, 67UniProtKB/Swiss-Prot, 36MeSH, 10Disease Ontology, 12DISEASES, 51Orphanet, 65UMLS, 45NIH Rare Diseases, 24GTR, 27ICD10, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 61The Human Phenotype Ontology
See all MalaCards sources

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

Name: Corneal Dystrophy, Thiel-Behnke Type 49 11 67 36
Thiel-Behnke Corneal Dystrophy 10 12 51 67 65
Tbcd 10 45 51 67
Corneal Dystrophy of Bowman Layer Type Ii 10 51 67
Anterior Limiting Membrane Dystrophy Type Ii 10 51
Waardenburg-Jonker Corneal Dystrophy 10 51
Thiel Behnke Corneal Dystrophy 45 24
Cdb2 45 67
 
Cdtb 45 67
Corneal Dystrophy of the Bowman Layer Type 2 45
Corneal Dystrophy Thiel Behnke Type 45
Honeycomb-Shaped Corneal Dystrophy 67
Corneal Dystrophy Honeycomb-Shaped 10
Corneal Dystrophy Honeycomb Shaped 45
Curly Fiber Corneal Dystrophy 51
Honeycomb Corneal Dystrophy 51

Characteristics:

Orphanet epidemiological data:

51
thiel-behnke corneal dystrophy:
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult,Childhood

HPO:

61
corneal dystrophy, thiel-behnke type:
Inheritance: autosomal dominant inheritance


Classifications:

Orphanet: 51 
Rare eye diseases


External Ids:

OMIM49 602082
Disease Ontology10 DOID:0060455
ICD1027 H18.5
Orphanet51 98960
ICD10 via Orphanet28 H18.5
MESH via Orphanet37 C535942
UMLS via Orphanet66 C1562894
MedGen34 C1562894
UMLS65 C1562894

Summaries for Corneal Dystrophy, Thiel-Behnke Type

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UniProtKB/Swiss-Prot:67 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, reis-bucklers type and epithelial basement membrane dystrophy, and has symptoms including juvenile epithelial corneal dystrophy, corneal dystrophy and photophobia. An important gene associated with Corneal Dystrophy, Thiel-Behnke Type is TGFBI (Transforming Growth Factor Beta Induced). Affiliated tissues include eye.

Description from OMIM:49 602082

Related Diseases for Corneal Dystrophy, Thiel-Behnke Type

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

(show all 49)
idRelated DiseaseScoreTop Affiliating Genes
1corneal dystrophy, reis-bucklers type32.5GSN, TGFBI
2epithelial basement membrane dystrophy32.2COL8A2, SLC4A11, TGFBI
3corneal dystrophy, avellino type31.9GCDH, TACSTD2, TBCD, TGFBI
4epithelial-stromal tgfbi dystrophy31.8KRT12, KRT3, TACSTD2, TBCD, TGFBI
5hypoparathyroidism-retardation-dysmorphism syndrome11.4
6corneal fleck dystrophy11.4
7retinitis pigmentosa 211.4
8epithelial and subepithelial dystrophy11.4
9lattice corneal dystrophy11.4
10peripheral vascular disease10.6
11arthritis10.6
12hepatitis10.6
13keratopathy10.6
14retinitis pigmentosa10.6
15sarcoma10.6
16cadasil10.6
17vascular disease10.6
18retinitis10.6
19lichen nitidus10.6
20soft tissue sarcoma10.6
21endotheliitis10.6
22vasculitis10.4
23corneal abscess10.3KRT12, TGFBI
24avascular necrosis of the femoral head10.3
25thalassemia10.3
26ulcerative colitis10.3
27colitis10.3
28gliosarcoma10.3
29liver cirrhosis10.2KRT12, KRT3
30necrosis of ear ossicle10.2KRT12, KRT3
31lymphoproliferative syndrome, x-linked, 210.2COL8A2, SLC4A11
32bronchopneumonia10.1KRT12, SAT1
33posterior amorphous corneal dystrophy10.1COL8A2, TBCD, TGFBI
34acute serous otitis media10.1COL8A2, SLC4A11, TGFBI
35fanconi anemia, complementation group b10.0KRT12, STS
36bullous keratopathy10.0COL8A2, SLC4A11
37corneal dystrophy, lattice type iiia10.0CHST6, GCDH, TBCD, TGFBI
38cough variant asthma9.9GCDH, KRT12, KRT3, STS, TGFBI
39severe nonproliferative diabetic retinopathy9.8GSN, TACSTD2, TBCD, TGFBI
40craniofacial anomalies and anterior segment dysgenesis syndrome9.8CDK13, COL8A2, KRT3, SLC4A11
41corneal dystrophy, gelatinous drop-like9.7CHST6, GSN, KRT12, TACSTD2, TGFBI
42epidermolysis bullosa simplex, koebner type9.5CHST6, COL8A2, KRT12, KRT3, SAT1, STS
43stromal dystrophy9.3CHST6, GCDH, GSN, KRT3, TACSTD2, TBCD
44acute hydrops keratoconus8.7CHST6, COL8A2, GSN, KRT12, KRT3, LCAT
45otosclerosis 48.6CHST6, COL8A2, GSN, KRT12, KRT3, LCAT
46cervicitis8.6CHST6, COL17A1, COL8A2, GSN, KRT12, KRT3
47cirrhosis, north american indian childhood type8.4CHST6, COL8A2, GSN, KRT12, KRT3, LCAT
48fuchs' endothelial dystrophy7.9CDK13, CHST6, COL8A2, GSN, KRT12, KRT3
49corneal dystrophy, epithelial basement membrane7.0CDK13, CHST6, COL17A1, COL8A2, GCDH, GSN

Graphical network of the top 20 diseases related to Corneal Dystrophy, Thiel-Behnke Type:



Diseases related to corneal dystrophy, thiel-behnke type

Symptoms for Corneal Dystrophy, Thiel-Behnke Type

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Symptoms by clinical synopsis from OMIM:

602082

Clinical features from OMIM:

602082

HPO human phenotypes related to Corneal Dystrophy, Thiel-Behnke Type:

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

Drugs & Therapeutics for Corneal Dystrophy, Thiel-Behnke Type

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Interventional clinical trials:

Search ClinicalTrials, 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

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Anatomical Context for Corneal Dystrophy, Thiel-Behnke Type

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

33
Eye

Animal Models for Corneal Dystrophy, Thiel-Behnke Type or affiliated genes

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

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes

Publications for Corneal Dystrophy, Thiel-Behnke Type

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Variations for Corneal Dystrophy, Thiel-Behnke Type

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

67
id Symbol AA change Variation ID SNP ID
1TGFBIp.Arg555GlnVAR_005082

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1TGFBINM_000358.2(TGFBI): c.1664G> A (p.Arg555Gln)single nucleotide variantPathogenicrs121909209GRCh37Chr 5, 135392470: 135392470

Expression for genes affiliated with Corneal Dystrophy, Thiel-Behnke Type

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

Pathways for genes affiliated with Corneal Dystrophy, Thiel-Behnke Type

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GO Terms for genes affiliated with Corneal Dystrophy, Thiel-Behnke Type

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

idNameGO IDScoreTop Affiliating Genes
1angiogenesisGO:00015259.4COL8A2, SAT1, TGFBI
2extracellular matrix disassemblyGO:00226178.6COL17A1, COL8A2, GSN

Sources for Corneal Dystrophy, Thiel-Behnke Type

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet