Rare Diseases Symptoms Automatic Extraction

Genotypic and phenotypic characterization of Brazilian patients with GM1 gangliosidosis.

[gm1 gangliosidosis]

GM1 gangliosidosis is a lysosomal disorder caused by β-galactosidase deficiency due to mutations in the GLB1 gene. It is a rare neurodegenerative disorder with an incidence of about 1:100,000-1:200,000 live births worldwide. Here we review GLB1 mutations and clinical features from 65 Brazilian GM1 gangliosidosis patients. Molecular analysis showed 17 different mutations and c.1622-1627insG was the most frequent, accounting for 50% of the alleles. Cognitive impairment was the main clinical sign, observed in 82% of patients, followed by hepatosplenomegaly observed in 56% of patients. It was possible to establish a significant correlation between age at onset of symptoms preceding the first year of life and the presence of the mutation c.1622-1627insG (p=0.03). Overall our findings differ from literature and represent the exclusive genotypic profile found in Brazilian GM1 gangliosidosis patients.

Diseases presenting "cognitive impairment" symptom

  • 22q11.2 deletion syndrome
  • cadasil
  • canavan disease
  • gm1 gangliosidosis
  • hereditary cerebral hemorrhage with amyloidosis
  • homocystinuria without methylmalonic aciduria
  • hydrocephalus with stenosis of the aqueduct of sylvius
  • kabuki syndrome
  • locked-in syndrome
  • phenylketonuria
  • sneddon syndrome
  • triple a syndrome
  • wolf-hirschhorn syndrome

This symptom has already been validated