I
CaseI: Early adult onset, 49 years diagnosis
CasePresentingHPOs: HP:0003701, HP:0003388, HP:0003236, HP:0003198 (Proximal muscle weakness, Easy fatigability, Increased serum CK, Myopathy)
HPOsFreeText: Plasma CK 5–10× Normal, GAA activity from lymphocytes: 14.2%
CaseNotHPOs: HP:0002795 (Abnormal respiration)
CaseAddInfo: Late-Onset Pompe Disease
later
CaseB: Female, 2 months onset, 6 months diagnosis
CasePresentingHPOs: HP:0001270, HP:0003324, HP:0002540, HP:0006532, HP:0003202, HP:0004887, HP:0001638 (Motor delay, Generalized weakness, Inability to walk, Pulmonary infection, Muscle atrophy, Respiratory failure requiring assisted ventilation, Cardiomyopathy)
HPOsFreeText: CRIM positive, Has a tracheostoma, Needs ventilatory support for almost 24 h/day
CaseNotHPOs: HP:0100543 (Cognitive impairment)
CaseAddInfo: Infantile-Onset Pompe Disease
10
Case10: Male, 50 years onset, 52 years diagnosis, Italy
HPOsFreeText: See Group Phenotypes, ERT started at 53, GAA Activity at ~13 pmol/min/mg before ERT and ~15 after
GroupGenotypingMethod: PCR Amplification and GAA Gene Sequencing
Variant1: NM_000152.4:c.-32-13T>G
ClinVar: 4027 https://www.ncbi.nlm.nih.gov/clinvar/variation/4027/
gnomAD: Ashkenazi Jewish 5.541e-3, Overall 3.401e-3 http://gnomad.broadinstitute.org/variant/17-78078341-T-G
Variant2: NM_000152.4:c.784G>A (p.Glu262Lys)
ClinVar: 188806 https://www.ncbi.nlm.nih.gov/clinvar/variation/188806/
gnomAD: East Asian 5.016e-5, Overall 1.417e-5 http://gnomad.broadinstitute.org/variant/17-78081447-G-A
CaseAddInfo: Late Onset Pompe Disease