Literature record
Gaucher disease with oculomotor apraxia and cardiovascular calcification (Gaucher type IIIC).
PMID 10636167 | DOI 10.1212/wnl.54.1.261 · Neurology · 2000 · View on PubMed ↗
The authors describe four siblings from consanguineous parents who presented with oculomotor deficit in early childhood characterized by impaired volitional horizontal saccades, compensatory lateral head thrust, and preservation of vertical movement. When about 10 years of age, heavily calcified aortic and mitral valves required surgery. Fibroblast beta-glucocerebrosidase activity was markedly reduced. Genotype analysis indicated that the two patients who were tested were homozygous for the D409H (1342G-->C) mutation. Relating this rare phenotype of Gaucher disease to D409H mutation will facilitate management of the disease and counseling of families.
Source-grounded extraction
Validated evidence
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| phenotype | Gaucher disease | “Gaucher disease with oculomotor apraxia and cardiovascular calcification (Gaucher type IIIC).” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Population | “The authors describe four siblings from consanguineous parents who presented with oculomotor deficit in early childhood characterized by impaired volitional horizontal saccades, compensatory lateral head thrust, and preservation of vertical movement.” | 0.80 | saudi_context_rules_v1 |
| variant | D409H | “Genotype analysis indicated that the two patients who were tested were homozygous for the D409H (1342G-->C) mutation.” | 0.82 | literature_variant_regex_v2 |