Corneal dystrophy, gelatinous drop-like

Preferred Label : Corneal dystrophy, gelatinous drop-like;

Symbol : GDLD;

CISMeF acronym : CDGDL; GDLD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Amyloidosis, corneal; CDGDL; Corneal dystrophy, lattice type III; Lattice corneal dystrophy, type III; Amyloid corneal dystrophy, japanese type;

Description : Gelatinous drop-like corneal dystrophy is an autosomal recessive disorder characterized by severe corneal amyloidosis leading to blindness. Clinical manifestations, which appear in the first decade of life, include blurred vision, photophobia, and foreign-body sensation. By the third decade, raised, yellowish-gray, gelatinous masses severely impair visual acuity, and lamellar keratoplasty is required for most patients (summary by Tsujikawa et al., 1999).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the tumor-associated calcium signal transducer 2 gene (TACSTD2, 137290.0001);

Prefixed ID : #204870;

Details

Origin ID

204870;

UMLS CUI

C0339273;

Automatic exact mappings (from CISMeF team)
- Amyloid of cornea (disorder) [SNOMED CT concept]
- meretoja syndrome [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Corneal dystrophy, gelatinous drop-like [MeSH concept]
- Gelatinous Drop-Like Corneal Dystrophy [NCIt concept]
- Gelatinous drop-like corneal dystrophy [PASCAL descriptor]
- Gelatinous drop-like corneal dystrophy [ICD-11 More detail]
- Gelatinous drop-like corneal dystrophy [ORDO Disease]
- Gelatinous droplike corneal dystrophy (disorder) [SNOMED CT concept]
- Lattice corneal dystrophy Type III (disorder) [SNOMED CT concept]
- corneal dystrophy, gelatinous drop-like [MeSH Supplementary Concept]
- gelatinous drop-like corneal dystrophy [DO Concept]
- lattice corneal dystrophy type III [Disease (Nov.)]
DO Cross reference
- gelatinous drop-like corneal dystrophy [DO Concept]
Genes related to phenotype
- Tumor-associated calcium signal transducer 2 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Blurred vision [HPO term]
- Childhood onset [HPO term]
- Corneal dystrophy [HPO term]
- Photophobia [HPO term]
- Reduced visual acuity [HPO term]
- Visual impairment [HPO term]
ORDO concept(s)
- Gelatinous drop-like corneal dystrophy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Corneal dystrophy, gelatinous drop-like [MeSH concept]
- Gelatinous Drop-Like Corneal Dystrophy [NCIt concept]
- Gelatinous drop-like corneal dystrophy [ORDO Disease]
- Gelatinous drop-like corneal dystrophy [PASCAL descriptor]
- Gelatinous droplike corneal dystrophy (disorder) [SNOMED CT concept]
- Lattice corneal dystrophy Type III (disorder) [SNOMED CT concept]
- corneal dystrophy, gelatinous drop-like [MeSH Supplementary Concept]
- gelatinous drop-like corneal dystrophy [DO Concept]
- lattice corneal dystrophy type III [Disease (Nov.)]

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