Hypothesis

2 Matching Annotations

Last 7 days
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov

A molecular analysis of the GAA gene and clinical spectrum in 38 patients with Pompe disease in Japan

1
1. ClingenBaseline 21 Oct 2026
  
  in Baseline Annotations
  
  8
  
  Patient8: Female, 8 year onset
  
  CasePresentingHPOs: HP:0001324 (Muscle Weakness)
  
  HPOsFreeText: GAA activity 3.2% from dried blood spot
  
  CaseNotHPOs: HP:0002098, HP:0001640, HP:0002240 (Respiratory distress, Cardiomegaly, Hepatomegaly)
  
  NotHPOsFreeText: No wheelchair needed, Respiratory Assistance not needed
  
  CaseAddInfo: LOPD
  
  Individual CaseInfo ClinVarID:189082 CA8815481 inferred_gene_hgnc:4065 inferred_gene_source:CAID GAA variant
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CaseInfo

ClinVarID:189082

GAA variant

CA8815481

Individual

inferred_gene_source:CAID

inferred_gene_hgnc:4065

Annotators

ClingenBaseline

URL

ncbi.nlm.nih.gov/pmc/articles/PMC5671405/
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov

Identification of Seven Novel Mutations in the Acid Alpha-glucosidase Gene in Five Chinese Patients with Late-onset Pompe Disease

1
1. ClingenBaseline 21 Oct 2026
  
  in Baseline Annotations
  
  3
  
  Case3: Female, 22 years diagnosis, 19 years onset
  
  CasePresentingHPOs: HP:0009073, HP:0003198 (Progressive proximal muscle weakness, Myopathy)
  
  HPOsFreeText: Electromyography showed myogenic damage, Vacuolar myopathy, Serum CK is 73.5 U/L
  
  Individual CaseInfo ClinVarID:189082 CA401370338 inferred_gene_hgnc:4065 inferred_gene_source:CAID GAA variant
Visit annotations in context

Tags

CaseInfo

ClinVarID:189082

CA401370338

GAA variant

Individual

inferred_gene_source:CAID

inferred_gene_hgnc:4065

Annotators

ClingenBaseline

URL

ncbi.nlm.nih.gov/pmc/articles/PMC5830830/