gelatinous drop-like corneal dystrophy

Term ID

DOID:0060449

Synonyms

• corneal amyloidosis
• GDCD
• primary familial amyloidosis of the cornea
• subepithelial amyloidosis of the cornea

Definition

An epithelial and subepithelial dystrophy that is characterized by severe corneal amyloidosis leading to blindness and that has_material_basis_in homozygous or compound heterozygous mutation in the TACSTD2 gene which encodes the monoclonal antibody-defined, tumor-associated antigen GA733-1, on chromosome 1p32. https://pubmed.ncbi.nlm.nih.gov/10192395/

References

• MESH:C535480
• NCI:C142805
• OMIM:204870
• ORDO:98957
• SNOMEDCT_US_2023_03_01:419900000
• UMLS_CUI:C0339273

Ontology

Human Disease   ( DOID:0060449 )