Details of Disease

General Information of Disease (ID: DISEWOEY)

• Disease Name: Gelatinous drop-like corneal dystrophy
• Synonyms: amyloidosis corneal; lattice corneal dystrophy type 3; amyloidosis, corneal; Cdgdl; GDLD; CDGDL; corneal dystrophy, lattice type 3; amyloid corneal dystrophy, Japanese type; lattice corneal dystrophy, type 3; corneal dystrophy, gelatinous drop-like; gelatinous drop-like corneal dystrophy; subepithelial amyloidosis of the cornea; primary familial amyloidosis of the cornea; corneal amyloidosis; GDCD
• Definition: Gelatinous drop-like corneal dystrophy (GDCD) is a form of superficial corneal dystrophy characterized by multiple prominent milky-white gelatinous nodules beneath the corneal epithelium, and marked visual impairment.
• Disease Hierarchy:
  DISW3W2N: Epithelial and subepithelial corneal dystrophy
  DIS8KVEV: Lattice corneal dystrophy
  DISYKSRF: Genetic disease
  DISPFJ0G: Superficial corneal dystrophy
  DISEWOEY: Gelatinous drop-like corneal dystrophy
• Disease Identifiers:
  MONDO ID: MONDO_0008777
  MESH ID: C535480
  UMLS CUI: C0339273
  OMIM ID: 204870
  MedGen ID: 90939
  HPO ID: HP:0034701
  Orphanet ID: 98957
  SNOMED CT ID: 419900000

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
TACSTD2	TTP2HE5	Strong	Biomarker	[1]
TACSTD2	TTP2HE5	Definitive	Autosomal recessive	[2]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TACSTD2	OTLSZR00	Definitive	Autosomal recessive	[2]

References

• [1] Familial Gelatinous Drop-Like Corneal Dystrophy Caused by a Novel Nonsense TACSTD2 Mutation.Cornea. 2016 Jul;35(7):987-90. doi: 10.1097/ICO.0000000000000863.
• [2] Gelatinous drop-like corneal dystrophy: a review. Br J Ophthalmol. 2017 Jan;101(1):10-15. doi: 10.1136/bjophthalmol-2016-309555. Epub 2016 Dec 2.