Details of Disease

General Information of Disease (ID: DIS3GK26)

Disease Name Thiel-Behnke corneal dystrophy
Synonyms
corneal dystrophy Thiel Behnke type; corneal dystrophy of the Bowman layer type 2; corneal dystrophy honeycomb shaped; Thiel Behnke corneal dystrophy; CDB2; corneal dystrophy, Thiel-Behnke type; corneal dystrophy of Bowman Layer, type 2; corneal dystrophy, honeycomb-Shaped; CDTB; corneal dystrophy honeycomb-shaped; Waardenburg-Jonker corneal dystrophy; curly fiber corneal dystrophy; corneal dystrophy of Bowman layer type II; honeycomb corneal dystrophy; Thiel-Behnke corneal dystrophy; TBCD; curly fibre corneal dystrophy; anterior limiting membrane dystrophy type 2; anterior limiting membrane dystrophy type II; corneal dystrophy of Bowman layer type 2
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.
Disease Hierarchy
DISPFJ0G: Superficial corneal dystrophy
DISZSUUG: Epithelial-stromal TGFBI dystrophy
DIS3GK26: Thiel-Behnke corneal dystrophy
Disease Identifiers
MONDO ID
MONDO_0011185
MESH ID
C535942
UMLS CUI
C1562894
OMIM ID
602082
MedGen ID
287070
Orphanet ID
98960
SNOMED CT ID
417065002

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 8 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ACOT8 OTHY684G Strong Biomarker [1]
AZI2 OT61Q7Q8 Strong Biomarker [1]
NAA25 OTS3QVF1 Strong Biomarker [1]
NAP1L1 OTI7WBZV Strong Biomarker [1]
NCKAP1 OTEZQXXJ Strong Biomarker [1]
TAB3 OT1ECMDL Strong Biomarker [1]
TRMO OTNJ7K9K Strong Biomarker [1]
TGFBI OTR443C5 Definitive Autosomal dominant [2]
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⏷ Show the Full List of 8 DOT(s)

References

1 Development of a Novel Vaccine Containing Binary Toxin for the Prevention of Clostridium difficile Disease with Enhanced Efficacy against NAP1 Strains.PLoS One. 2017 Jan 26;12(1):e0170640. doi: 10.1371/journal.pone.0170640. eCollection 2017.
2 BIGH3 mutation spectrum in corneal dystrophies. Invest Ophthalmol Vis Sci. 2002 Apr;43(4):949-54.