21
Case21: 12.5 years onset, 13 years diagnosis, 13 years report
CasePresentingHPOs: HP:0003236 (Increased serum CK)
HPOsFreeText: Asymptomatic hyperCKemia
CaseAddInfo: Late-Onset Pompe Disease, Gender reported as "W"
3 Matching Annotations
- Last 7 days
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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ojrd.biomedcentral.com ojrd.biomedcentral.com
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P8a
Patient8: Female, 61yo
CasePresentingHPOs: HP:0000822, HP:0003077
HPOsFreeText: LOPD
CaseNotHPOs:
NotHPOsFreeText:
CaseAddInfo: 5yr follow-up MRI, 21yr disease duration, ERT lasted for 63mo
CasePMIDs: PMID: 25614309
CasePreviousTesting: same as group
CaseGenotypingMethod: same as group
Variant1: NM_000152.4(GAA):c.-32-13T>G
Clinvar: 4027, https://www.ncbi.nlm.nih.gov/clinvar/variation/4027/
gnomAD: 0.003582, http://exac.broadinstitute.org/variant/17-78078341-T-G
Variant2: NM_000152.4(GAA):c.1478C>T (p.Pro493Leu)
ClinVar: 379593, https://www.ncbi.nlm.nih.gov/clinvar/variation/379593/
gnomAD: 0.00001416, http://gnomad.broadinstitute.org/variant/17-78084566-C-T
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P5a
Patient5: Male, 52yo
CasePresentingHPOs: HP:0003077, HP:0000822
HPOsFreeText: LOPD
CaseNotHPOs:
NotHPOsFreeText:
CaseAddInfo: 15yr disease duration, ERT lasted for 63mo, 5yr follow-up MRI
CasePMIDs: PMID: 25614309
CasePreviousTesting: same as group
CaseGenotypingMethod: same as group
Variant1: NM_000152.4(GAA):c.-32-13T>G
Clinvar: 4027, https://www.ncbi.nlm.nih.gov/clinvar/variation/4027/
gnomAD: 0.003582, http://exac.broadinstitute.org/variant/17-78078341-T-G
Variant2: NM_000152.4(GAA):c.1478C>T (p.Pro493Leu)
ClinVar: 379593, https://www.ncbi.nlm.nih.gov/clinvar/variation/379593/
gnomAD: 0.00001416, http://gnomad.broadinstitute.org/variant/17-78084566-C-T
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