16 Matching Annotations
  1. Last 7 days
  2. link.springer.com link.springer.com
    Intracranial arterial abnormalities in patients with late onset Pompe disease (LOPD)
    5
    1. ClingenBaseline 21 Oct 2026
      16

      Patient16: 16yo

      CasePresentingHPOs: HP:0003325, HP:0020038

      HPOsFreeText: GAA = 4.5%, BMI = 21.4, fetal origin of right posterior cerebral artery, normal CT

      CaseNotHPOs:

      NotHPOsFreeText: No cardiovascular risk

      CaseAddInfo: 6yr disease duration, variants in trans

      CasePMIDs:

      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_000152.3:c.2530_2541del

      CAID: CA658795292, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA658795292

      gnomAD: n/a

      Individual Variant CaseInfo EnzymeActivity ClinVarID:4027 CA658795292 inferred_gene_hgnc:4065 inferred_gene_source:CAID GAA variant
    2. ClingenBaseline 21 Oct 2026
      17

      Patient17: 65yo

      CasePresentingHPOs: HP:0003325, HP:0002093, HP:0002870, HP:0020038, HP:0002637

      HPOsFreeText: GAA = 6.8%, smoker, BMI = 27.1, right ventricular trigone retraction due to ischemia

      CaseNotHPOs:

      NotHPOsFreeText:

      CaseAddInfo: 22yr disease duration, variants in cis

      CasePMIDs:

      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.1561G>A (p.Glu521Lys)

      ClinVar: 4022, https://www.ncbi.nlm.nih.gov/clinvar/variation/4022/

      gnomAD: 8.262e-06, http://exac.broadinstitute.org/variant/17-78084749-G-A

      Individual Variant CaseInfo EnzymeActivity ClinVarID:4027 ClinVarID:4022 inferred_gene_hgnc:4065 inferred_gene_source:RefSeq GAA variant
    3. ClingenBaseline 21 Oct 2026
      20

      Patient20: 60yo

      CasePresentingHPOs: HP:0003325, HP:0002093, HP:0000822, HP:0002870, HP:0020038

      HPOsFreeText: GAA = 11%, BMI = 23.2, subcortical white matter lacunes

      CaseNotHPOs:

      NotHPOsFreeText:

      CaseAddInfo: 5yr disease duration, variants in cis

      CasePMIDs:

      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.1561G>A (p.Glu521Lys)

      ClinVar: 4022, https://www.ncbi.nlm.nih.gov/clinvar/variation/4022/

      gnomAD: 8.262e-06, http://exac.broadinstitute.org/variant/17-78084749-G-A

      Individual CaseInfo Variant EnzymeActivity ClinVarID:4027 ClinVarID:4022 inferred_gene_hgnc:4065 inferred_gene_source:RefSeq GAA variant
    4. ClingenBaseline 21 Oct 2026
      11

      Patient11: 62yo

      CasePresentingHPOs: HP:0003325, HP:0002093, HP:0004887, HP:0000822

      HPOsFreeText: GAA = 5.7%, smoker, BMI = 22.3, basilar artery fenestration, nucleo-capsular and temporo-insular lacunes

      CaseNotHPOs:

      NotHPOsFreeText:

      CaseAddInfo: 24yr disease duration, variants in cis

      CasePMIDs:

      CasePreviousTesting: same as group

      CaseGenotypingMethod: same as group

      Variant: 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.1551+1G>C

      ClinVar: 554983, https://www.ncbi.nlm.nih.gov/clinvar/variation/554983/

      gnomAD: n/a

      Individual Variant CaseInfo EnzymeActivity ClinVarID:4027 ClinVarID:554983 inferred_gene_hgnc:4065 inferred_gene_source:RefSeq GAA variant
    5. ClingenBaseline 21 Oct 2026
      3

      Patient3: 53yo

      CasePresentingHPOs: HP:0002870

      HPOsFreeText: hyperCKemia, GAA = 16%, BMI = 27.7, left vertebral artery dominant, temporo-insular lacunes

      CaseNotHPOs:

      NotHPOsFreeText:

      CaseAddInfo: 24yr disease duration

      CasePMIDs:

      CasePreviousTesting: same as group

      CaseGenotypingMethod: same as group

      Variant: 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

      Individual Variant CaseInfo EnzymeActivity ClinVarID:4027 inferred_gene_hgnc:4065 inferred_gene_source:RefSeq GAA variant
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    link.springer.com/article/10.1007/s10545-015-9913-x
  3. link-springer-com.libproxy.lib.unc.edu link-springer-com.libproxy.lib.unc.edu
    Newborn screening for lysosomal storage disorders by tandem mass spectrometry in North East Italy
    1
    1. ClingenBaseline 21 Oct 2026
      For GAA (Pompe disease) screening

      CaseP1-GAA: Male, ethnicity = North African, country origin = Morocco

      CasePresentingHPOs: HP:0010899, HP:0010916, HP:0003236

      HPOsFreeText: enzyme activity = 0.61, CPK = 448 U/L, ALT = 48 U/L, AST = 98 U/L, CRIM positive

      CaseNotHPOs:

      NotHPOsFreeText:

      CaseAddInfo: heterozygote, variants in trans. Patient underwent ERT.

      CasePreviousTesting: initial and confirmatory DBS, biochemical tests, echocardiography

      CaseGenotypingMethod: mutation analyses

      Variant1: NM_000152.4(GAA):c.-32-13T>G

      Clinvar: 4027, https://www.ncbi.nlm.nih.gov/clinvar/variation/4027/

      gnomAD: n/a

      Variant2: NM_000152.4(GAA):c.236_246delCCACACAGTGC (p.Pro79Argfs)

      ClinVar: 371302, https://www.ncbi.nlm.nih.gov/clinvar/variation/371302/

      gnomAD: n/a

      Individual CaseInfo PreviousTesting Variant EnzymeActivity ClinVarID:4027 ClinVarID:371302 inferred_gene_hgnc:9122 inferred_gene_source:ClinVar GAA variant
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    link-springer-com.libproxy.lib.unc.edu/article/10.1007/s10545-017-0098-3
  4. www.sciencedirect.com www.sciencedirect.com
    Observational clinical study of 22 adult-onset Pompe disease patients undergoing enzyme replacement therapy over 5 years
    5
    1. ClingenBaseline 21 Oct 2026
      22a

      Patient22: Female, 40yo at diagnosis and ERT

      CasePresentingHPOs:

      HPOsFreeText: anti rh-GAA antibodies titre = 1:12,800, enzyme = 2.77 pmol/punch/h (7.3–39), NIV and mobility aid required before and after ERT

      CaseNotHPOs:

      NotHPOsFreeText:

      CaseAddInfo: 18yr disease duration, patient discontinued ERT, variants in trans

      CasePMIDs:

      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.258dupC (p.Asn87Glnfs)

      ClinVar: 282842, https://www.ncbi.nlm.nih.gov/clinvar/variation/282842/

      gnomAD: 2.653e-05, http://exac.broadinstitute.org/variant/17-78078636-T-TC

      Individual Variant CaseInfo EnzymeActivity ClinVarID:4027 ClinVarID:282842 inferred_gene_hgnc:7720 inferred_gene_source:ClinVar GAA variant
    2. ClingenBaseline 21 Oct 2026
      8

      Patient8: Female, 41yo at diagnosis, 48yo at ERT

      CasePresentingHPOs:

      HPOsFreeText: anti rh-GAA antibodies titre = 1:1600, enzyme (μmol/g/h) = 0.23 (2-10), mobility aid required before and after ERT

      CaseNotHPOs:

      NotHPOsFreeText: NIV not required

      CaseAddInfo: 7yr disease duration, variants in trans

      CasePMIDs:

      CasePreviousTesting: same as group

      CaseGenotypingMethod: same as group

      Variant1: NM_000152.3:c.482_483del

      CAID: CA8814879, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA8814879

      gnomAD: 1.729e-05, http://exac.broadinstitute.org/variant/17-78078864-TCC-T

      Variant2: NM_000152.4(GAA):c.692+5G>T

      ClinVar: 562532, https://www.ncbi.nlm.nih.gov/clinvar/variation/526532/

      gnomAD: 8.596e-06, http://exac.broadinstitute.org/variant/17-78079698-G-T

      Individual Variant CaseInfo EnzymeActivity CA8814879 ClinVarID:562532 inferred_gene_hgnc:4065 inferred_gene_source:CAID GAA variant
    3. ClingenBaseline 21 Oct 2026
      4

      Patient 4: Male, 37yo at diagnosis, 41yo at ERT

      CasePresentingHPOs:

      HPOsFreeText: anti rh-GAA antibodies titre = neg, enzyme (μmol/g/h) = 2.1 (3-20), mobility aid required before and after ERT

      CaseNotHPOs:

      NotHPOsFreeText: NIV not used

      CaseAddInfo: 10yr disease duration

      CasePMIDs:

      CasePreviousTesting: same as group

      CaseGenotypingMethod: same as group

      Variant: NM_000152.4(GAA):c.1437G>A (p.Lys479=)

      ClinVar: 188044, https://www.ncbi.nlm.nih.gov/clinvar/variation/188044/

      gnomAD: n/a

      Individual Variant CaseInfo EnzymeActivity ClinVarID:188044 inferred_gene_hgnc:12442 inferred_gene_source:ClinVar GAA variant
    4. ClingenBaseline 21 Oct 2026
      7

      Patient7: Female, 49yo at diagnosis, 50yo at ERT

      CasePresentingHPOs:

      HPOsFreeText: anti rh-GAA antibodies titre = 1:1600, enzyme (μmol/g/h) = 0.78 (3-20)

      CaseNotHPOs:

      NotHPOsFreeText: NIV and mobility aid not required

      CaseAddInfo: 25yr disease duration, variants in trans

      CasePMIDs:

      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.525delT (p.Glu176Argfs)

      ClinVar: 4033, https://www.ncbi.nlm.nih.gov/clinvar/variation/4033/

      gnomAD: 7.041e-05, http://exac.broadinstitute.org/variant/17-78078909-CT-C

      Individual Variant CaseInfo EnzymeActivity ClinVarID:4027 ClinVarID:4033 inferred_gene_hgnc:4065 inferred_gene_source:RefSeq GAA variant
    5. ClingenBaseline 21 Oct 2026
      17

      Patient17: Male, 34yo at diagnosis and ERT

      CasePresentingHPOs:

      HPOsFreeText: anti rh-GAA antibodies titre = 1:800, enzyme (μmol/g/h) = 0.75 (3-20), NIV required only after ERT began

      CaseNotHPOs:

      NotHPOsFreeText: mobility aid not required

      CaseAddInfo: 17yr disease duration, variants in trans

      CasePMIDs:

      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_001079803.2(GAA):c.896T>C (p.Leu299Pro)

      ClinVar: 180144, https://www.ncbi.nlm.nih.gov/clinvar/variation/180144/

      gnomAD: n/a

      Individual Variant CaseInfo EnzymeActivity ClinVarID:4027 ClinVarID:180144 inferred_gene_hgnc:7127 inferred_gene_source:ClinVar GAA variant
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    sciencedirect.com/science/article/pii/S1096719216300129
  5. www.sciencedirect.com www.sciencedirect.com
    First clinical and genetic description of a family diagnosed with late-onset Pompe disease from Costa Rica
    2
    1. ClingenBaseline 21 Oct 2026
      Subject II-6

      Subject II-6: female, 56yo

      CasePresentingHPOs: HP:0000822, HP:0003701, HP:0001611, HP:0003691, HP:0003700, HP:0009023, HP:0003307, HP:0002515, HP:0040081, HP:0003458

      HPOsFreeText: altered DBS, treated with beta-blockers, occasional cramping of lower limbs, muscle atrophy of temporal, deltoids, and thigh muscle extensors, muscle strength was 5/5 proximal and distal for upper limbs and distal for lower limbs, and 4/5 on hip extension, diminished biceps, triceps, patellar, and ankle jerk reflexes. Intact pain, temperature, vibration, proprioception, and coordination. CK = 86 IU/L, AST = 33 IU/L, reduced GAA activity, reduced duration and amplitude of motor unit action potentials (mainly on thigh extensors), normal muscle biopsy

      CaseNotHPOs: HP:0001291, HP:0002015, HP:0001618, HP:0003391, HP:0003487

      NotHPOsFreeText: no Hoffmann sign, paraspinal complex repetitive discharges

      CaseAddInfo: This patient's 5 daughters had DBS and GAA sequencing evaluations, only 2 (III-9 and III-10) had altered DBS and carried GAA variants

      CasePMIDs:

      CasePreviousTesting: DBS, EMG, muscle biopsy from thigh extensors

      CaseGenotypingMethod: GAA genotyping

      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.2560C>T (p.Arg854Ter)

      ClinVar: 4034, https://www.ncbi.nlm.nih.gov/clinvar/variation/4034/

      gnomAD: 0.0002090, http://gnomad.broadinstitute.org/variant/17-78092070-C-T

      Individual CaseInfo Variant EnzymeActivity ClinVarID:4027 ClinVarID:4034 inferred_gene_hgnc:4065 inferred_gene_source:RefSeq GAA variant
    2. ClingenBaseline 21 Oct 2026
      II-4

      Subject II-4: female

      CasePresentingHPOs:

      HPOsFreeText: normal GAA enzyme values

      CaseNotHPOs:

      NotHPOsFreeText:

      CaseAddInfo: carrier status, clinically asymptomatic

      CasePMIDs:

      CasePreviousTesting: DBS

      CaseGenotypingMethod: GAA genotyping

      Variant: NM_000152.4(GAA):c.2560C>T (p.Arg854Ter)

      ClinVar: 4034, https://www.ncbi.nlm.nih.gov/clinvar/variation/4034/

      gnomAD: 0.0002090, http://gnomad.broadinstitute.org/variant/17-78092070-C-T

      Individual CaseInfo Variant EnzymeActivity ClinVarID:4034 inferred_gene_hgnc:4065 inferred_gene_source:RefSeq GAA variant
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    sciencedirect.com/science/article/pii/S0960896617300627
  6. www.sciencedirect.com www.sciencedirect.com
    Prevalence of adult Pompe disease in patients with proximal myopathic syndrome and undiagnosed muscle biopsy
    1
    1. ClingenBaseline 21 Oct 2026
      Patient 2 was a 29-year old Caucasian male

      Patient2: female, 29 yo, Caucasian

      CasePresentingHPOs: HP:0003724, HP:0008988, HP:0003691, HP:0003391, HP:0003551, HP:0040081, HP:0002910, HP:0003557, HP:0100295, HP:0100295, HP:0009051, HP:0004356, HP:0002111

      HPOsFreeText: paravertebral muscle atrophy, atrophies with paresis grade of 3-4 MRC, cannot stand from squatting position, impaired overhead work, CK = 1390 U/l, AST = 65 U/l, ALAT = 72 U/L, symmetrical atrophy of thigh muscle, fatty deposits in m. adductor magnus, flause signal elevation in the mm. semimembranosus and mm. biceps femoris bilateral, reticulation in the proximal vastus intermedius and vastus lateralis, vacuolated muscle fibres, PAS-positive glycogen storage with enhanced lysosomal activity in the PAS staining, increased lysosomal activity, GAA activity = 0.22nmol/spot x 21hrs

      CaseNotHPOs: HP:0001639

      CaseAddInfo:

      CasePreviousTesting: MRI of thigh muscle, muscle biopsy of mm. vastus lateralis, hematoxylin and eosin stain, Peri acid-Schiff reaction, Acid phosphatase staining, transthoracic echocardiogram, respiratory function test

      CaseGenotypingMethod: Sanger Sequencing

      Variant: 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

      Individual CaseInfo Variant PreviousTesting GenotypingMethod EnzymeActivity ClinVarID:4027 inferred_gene_hgnc:4065 inferred_gene_source:RefSeq GAA variant
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    sciencedirect.com/science/article/pii/S096089661731372X
  7. www.sciencedirect.com www.sciencedirect.com
    Targeted population screening of late onset Pompe disease in unspecified myopathy patients for Korean population
    1
    1. ClingenBaseline 21 Oct 2026
      31

      Case31: Male, 41yo (at enrollment and onset)

      CasePresentingHPOs: HP:0002094, HP:0003701, HP:0003327, HP:0003236, HP:0002098, HP:0002111, HP:0003458, HP:0100284

      HPOsFreeText: asymmetric weakness of extremities, CK = 573 IU/L, required use of ventilator, FVC = 33.7%, unspecific myopathic changes present in muscle pathology, DBS GAA activity = .05, mixed leukocyte GAA activity = 1.40

      CaseNotHPOs: HP:0001627

      NotHPOsFreeText:

      CaseAddInfo:

      CasePreviousTesting: clinical history, laboratory data, DBS and ML assays to measure GAA activity, electromyography, muscle pathology analysis

      CaseGenotypingMethod: full sequencing of GAA gene

      VariantAllele1: NM_000152.3:c.1822C>T

      CAID: CA8815488, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvs=NM_000152.3%3Ac.1822C%3ET

      gnomAD: 0.00001806, http://gnomad.broadinstitute.org/variant/17-78086444-C-T

      VariantAllele2: NM_000152.4(GAA):c.2238G>C (p.Trp746Cys)

      ClinVar: 265160, https://www.ncbi.nlm.nih.gov/clinvar/variation/265160/

      gnomAD: 0.0002987, http://exac.broadinstitute.org/variant/17-78090815-G-C

      Individual CaseInfo GenotypingMethod PreviousTesting Variant EnzymeActivity CA8815488 ClinVarID:265160 inferred_gene_hgnc:4065 inferred_gene_source:CAID GAA variant
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    sciencedirect.com/science/article/pii/S0960896617300275
  8. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Late‐onset pompe disease in Iran: A clinical and genetic report
    1
    1. ClingenBaseline 21 Oct 2026
      9

      Family 9 - Patient 9

      FamilyPresentingHPOs: HP:0007340, HP:0003701, HP:0000467, HP:0003327, HP:0010628, HP:0003306, HP:0002111, HP:0040081

      HPOsFreeText: muscle pathology with slight vacuolar myopathy with mild glycogen excess

      FamilyNotHPOs: HP:0002015, HP:0003691, HP:0002650

      Ethnicity: Iranian

      ProbandLabel:

      FamilyAddInfo: onset at 28yo, diagnosed at 35yo, MRC sum score = 81

      FamilyPreviousTesting: Respiratory Evaluation: FVC = 71%, CK = 748 U/L, muscle pathology examined, DBS enzyme activity (with inhibition) = 3.5 μmol/L/h

      FamilyGenotypingMethod: GAA analyzed with Sanger Sequencing for entire coding region and conserved exon-intron splice junctions, PCR performed for deletion screening

      VariantAllele1: 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

      VariantAllele2: NM_000152.4(GAA):c.1799G>A (p.Arg600His)

      ClinVar: 370130, https://www.ncbi.nlm.nih.gov/clinvar/variation/370130/

      gnomAD: 8.675e-06, http://exac.broadinstitute.org/variant/17-78086421-G-A

      Family FamilyInfo GenotypingMethod PreviousTesting Variant EnzymeActivity ClinVarID:4027 ClinVarID:370130 inferred_gene_hgnc:18865 inferred_gene_source:ClinVar GAA variant
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    onlinelibrary.wiley.com/doi/full/10.1002/mus.25413