Belgian Genetic Tests database- Diseases
- Glycogen storage disease due to acid maltase deficiency, infantile onset
Glycogen storage disease due to acid maltase deficiency, infantile onset
| Name: |
Glycogen storage disease due to acid maltase deficiency, infantile onset
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| Description: |
Glycogen storage disease due to acid maltase deficiency, infantile onset is the most severe form of glycogen storage disease due to acid maltase deficiency, characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties. It is often fatal.
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| ORPHAcode: |
308552
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| Synonyms: |
Alpha-1,4-glucosidase acid deficiency, infantile onset
GSD due to acid maltase deficiency, infantile onset
GSD type 2, infantile onset
GSD type II, infantile onset
Glycogen storage disease type 2, infantile onset
Glycogen storage disease type II, infantile onset
Glycogenosis due to acid maltase deficiency, infantile onset
Glycogenosis type 2, infantile onset
Glycogenosis type II, infantile onset
Pompe disease, infantile onset
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| XREF(s): | |
| Analyte(s): | |
| Created: |
13 May 2019 - 01:02
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| Changed: |
22 Jun 2023 - 16:14
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- Cardiomyopathy, hereditary (gene panel)
- Enzymatic dosage Pompe disease
- Neuromuscular disorders : congenital & distal myopathy, congenital muscle dystrophy / Limb-girdle muscular dystrophy / Rhabdomyolysis / Myopathy (with prominent contractures) / distal artrogryposis (gene panel)
- Pompe disease, Glycogen storage disease II (GAA gene)
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Cardiomyopathy, hereditary (208 genes) - VUB
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ABCC9 100.00 0 No comment ACAD9 100.00 0 No comment ACADVL 98.89 0 No comment ACE 97.11 0 No comment ACTA1 100.00 0 No comment ACTC1 100.00 0 No comment ACTN2 100.00 0 No comment ADD3 100.00 0 No comment ADRB2 100.00 0 No comment AGXT 100.00 0 No comment AGTR1 100.00 0 No comment AKAP9 100.00 0 No comment ALPK3 98.02 0 No comment ANKRD1 100.00 0 No comment APOA1 99.97 0 No comment B2M 100.00 0 No comment BAG3 100.00 0 No comment BRAF 96.97 0 No comment CACNA1C 100.00 0 No comment CACNB2 100.00 0 No comment CALM1 100.00 0 No comment CALM2 100.00 0 No comment CALM3 99.99 0 No comment CALR3 100.00 0 No comment CASQ2 100.00 0 No comment CASZ1 95.56 0 No comment CAV3 100.00 0 No comment CAVIN4 100.00 0 No comment CBL 100.00 0 No comment CDH2 97.48 0 No comment CHRM2 100.00 0 No comment CMYA5 99.99 0 No comment CNBP 100.00 0 No comment COA5 100.00 0 No comment COA6 100.00 0 No comment COX10 100.00 0 No comment COX15 100.00 0 No comment CRYAB 100.00 0 No comment CSRP3 100.00 0 No comment CTF1 30.96 0 No comment CTNNA3 100.00 0 No comment DES 100.00 0 No comment DLG1 100.00 0 No comment DMD 100.00 0 No comment DNAJC19 100.00 0 No comment DNM1L 100.00 0 No comment DOLK 100.00 0 No comment DSC3 98.44 0 No comment DSG2 99.61 0 No comment DSP 100.00 0 No comment DTNA 100.00 0 No comment ECRG4 99.32 0 No comment ELAC2 99.99 0 No comment ELN 100.00 0 No comment EMD 99.84 0 No comment EYA4 100.00 0 No comment FBXO32 100.00 0 No comment CFH 100.00 0 No comment FHL2 100.00 0 No comment FHOD3 100.00 0 No comment FKRP 98.68 0 No comment FKTN 100.00 0 No comment FLNC 100.00 0 No comment FLT1 99.53 0 No comment FOXD4 100.00 0 No comment FXN 89.89 0 No comment GAA 100.00 0 No comment GATA4 80.69 0 No comment GATA5 97.28 0 No comment GATA6 81.11 0 No comment GATAD1 88.18 0 No comment GLA 100.00 0 No comment GTPBP3 100.00 0 No comment HACD1 95.46 0 No comment HADHB 100.00 0 No comment HAND1 100.00 0 No comment HCN4 92.35 0 No comment HIF1A 100.00 0 No comment HRAS 100.00 0 No comment HSPB6 99.65 0 No comment HSPB7 100.00 0 No comment ILK 100.00 0 No comment INS-IGF2 99.94 0 No comment ISL1 100.00 0 No comment JPH2 95.10 0 No comment JUP 100.00 0 No comment KARS1 100.00 0 No comment KAT2B 94.80 0 No comment KCND2 100.00 0 No comment KCNE1 100.00 0 No comment KCNH2 94.44 0 No comment KCNJ12 100.00 0 No comment KCNQ1 91.07 0 No comment KIF20A 100.00 0 No comment KLF10 100.00 0 No comment LAMA2 100.00 0 No comment LAMA4 100.00 0 No comment LAMP2 100.00 0 No comment LDB3 100.00 0 No comment LMNA 99.93 0 No comment LRRC10 100.00 0 No comment MAP2K1 100.00 0 No comment MAP2K2 99.98 0 No comment MIB1 100.00 0 No comment MIB2 99.31 0 No comment MRPL3 100.00 0 No comment MRPL44 100.00 0 No comment MTO1 95.75 0 No comment MYBPC3 100.00 0 No comment MYH15 100.00 0 No comment MYH6 100.00 0 No comment MYH7 100.00 0 No comment MYH7B 99.96 0 No comment MYL2 100.00 0 No comment MYL3 100.00 0 No comment MYLK2 100.00 0 No comment MYO6 100.00 0 No comment MYOM1 100.00 0 No comment MYOM3 100.00 0 No comment MYOZ1 100.00 0 No comment MYOZ2 100.00 0 No comment MYPN 100.00 0 No comment NAA10 96.03 0 No comment NCOA6 100.00 0 No comment NDUFAF1 100.00 0 No comment NDUFV2 100.00 0 No comment NEB 99.99 0 No comment NEBL 100.00 0 No comment NEXN 100.00 0 No comment NKX2-5 100.00 0 No comment NPPA 100.00 0 No comment NRAP 100.00 0 No comment OBSCN 99.26 0 No comment OBSL1 98.31 0 No comment MED12 100.00 0 No comment PDLIM3 100.00 0 No comment PKP2 99.87 0 No comment PLEC 99.82 0 No comment PLEKHM2 99.60 0 No comment PLN 100.00 0 No comment PPCS 100.00 0 No comment PRDM16 100.00 0 No comment PRKAG2 95.88 0 No comment PRNP 100.00 0 No comment PSEN1 100.00 0 No comment PSEN2 100.00 0 No comment PTEN 98.86 0 No comment PTPN11 98.80 0 No comment RAF1 100.00 0 No comment RANGRF 100.00 0 No comment RBM20 99.82 0 No comment RIT1 100.00 0 No comment RPSA 97.87 0 No comment RRAGC 99.99 0 No comment RTKN2 100.00 0 No comment RYR2 100.00 0 No comment S100A1 100.00 0 No comment SCN4B 100.00 0 No comment SCN5A 100.00 0 No comment SDHA 98.02 0 No comment SGCB 94.58 0 No comment SGCD 100.00 0 No comment SGCG 100.00 0 No comment SGK1 99.99 0 No comment SHOC2 100.00 0 No comment SLC12A1 100.00 0 No comment SLC22A5 100.00 0 No comment SLC25A3 100.00 0 No comment SLC25A4 99.09 0 No comment SMC1A 100.00 0 No comment SNTA1 84.25 0 No comment SOD2 100.00 0 No comment SOS1 100.00 0 No comment SYNE1 100.00 0 No comment SYNE2 100.00 0 No comment SYNM 92.59 0 No comment TAF1A 100.00 0 No comment TAX1BP3 100.00 0 No comment WWTR1 99.81 0 No comment TBX20 100.00 0 No comment TBX5 100.00 0 No comment TCAP 100.00 0 No comment TCF21 100.00 0 No comment TGFB3 100.00 0 No comment TJP1 99.14 0 No comment TK2 95.90 0 No comment TMED4 100.00 0 No comment TMEM43 100.00 0 No comment TMEM87B 99.37 0 No comment TMPO 99.87 0 No comment TNNI3 100.00 0 No comment TNNI3K 100.00 0 No comment TNNT2 100.00 0 No comment TNNT3 100.00 0 No comment TPM1 99.98 0 No comment TRIM54 99.66 0 No comment TRIM55 100.00 0 No comment TRIM63 100.00 0 No comment TRPM4 100.00 0 No comment TSFM 93.22 0 No comment TTN 100.00 0 No comment TTR 100.00 0 No comment TXNRD2 96.90 0 No comment VCL 100.00 0 No comment VEGFA 98.73 0 No comment YWHAE 98.69 0 No comment ZBTB17 100.00 0 No comment -
Neuromuscular disorders (166 genes) - VUB
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ACADVL 0.00 0 No value for column 2 ACTA1 0.00 0 No value for column 2 AGRN 0.00 0 No value for column 2 ALDOA 0.00 0 No value for column 2 ALG14 0.00 0 No value for column 2 ALG2 99.94 0 No comment ALS2 100.00 0 No comment ANG 100.00 0 No comment ANO5 100.00 0 No comment ASAH1 99.94 0 No comment ATP7A 100.00 0 No comment ATXN2 89.10 0 No comment B3GALNT2 85.88 0 No comment B4GAT1 100.00 0 No comment BAG3 100.00 0 No comment BICD2 100.00 0 No comment BIN1 100.00 0 No comment BSCL2 100.00 0 No comment C9ORF72 100.00 0 No comment CAV3 100.00 0 No comment CFL2 99.75 0 No comment CHAT 100.00 0 No comment CHKB 99.69 0 No comment CHRNA1 100.00 0 No comment CHRNB1 100.00 0 No comment CHRND 100.00 0 No comment CHRNE 100.00 0 No comment CHRNG 100.00 0 No comment COL6A1 100.00 0 No comment COL6A2 100.00 0 No comment COL6A3 100.00 0 No comment COLQ 100.00 0 No comment CPT2 98.71 0 No comment CRPPA 95.75 0 No comment CRYAB 100.00 0 No comment DAG1 100.00 0 No comment DAO 100.00 0 No comment DCTN1 100.00 0 No comment DES 100.00 0 No comment DGUOK 100.00 0 No comment DMD 100.00 0 No comment DNAJB2 100.00 0 No comment DNAJB6 99.34 0 No comment DNM2 99.95 0 No comment DOK7 98.77 0 No comment DOLK 100.00 0 No comment DPAGT1 100.00 0 No comment DPM1 100.00 0 No comment DPM2 100.00 0 No comment DPM3 100.00 0 No comment DYNC1H1 100.00 0 No comment DYSF 100.00 0 No comment ECEL1 95.92 0 No comment EMD 99.84 0 No comment ENO3 100.00 0 No comment ETFA 100.00 0 No comment ETFB 100.00 0 No comment ETFDH 100.00 0 No comment EXOSC3 100.00 0 No comment FBLN5 100.00 0 No comment FBXO38 100.00 0 No comment FDX2 100.00 0 No comment CFH 100.00 0 No comment FKRP 98.68 0 No comment FKTN 100.00 0 No comment FLNC 100.00 0 No comment FUS 100.00 0 No comment GAA 100.00 0 No comment GARS1 99.53 0 No comment GFPT1 99.98 0 No comment GLE1 100.00 0 No comment GMPPB 100.00 0 No comment GNE 100.00 0 No comment GRN 100.00 0 No comment HADHA 100.00 0 No comment HADHB 100.00 0 No comment HARS1 100.00 0 No comment HEXB 99.82 0 No comment HNRNPA1 99.61 0 No comment HNRNPA2B1 100.00 0 No comment HSPB1 100.00 0 No comment HSPB3 100.00 0 No comment HSPB8 100.00 0 No comment IGHMBP2 100.00 0 No comment ISCU 99.39 0 No comment KBTBD13 97.91 0 No comment KLHL40 100.00 0 No comment KLHL9 100.00 0 No comment LAMA2 100.00 0 No comment LAMB2 100.00 0 No comment LARGE1 100.00 0 No comment LAS1L 100.00 0 No comment LDB3 100.00 0 No comment LMNA 99.93 0 No comment LPIN1 100.00 0 No comment CORIN 98.90 0 No comment MATR3 100.00 0 No comment MEGF10 100.00 0 No comment MTM1 100.00 0 No comment MUSK 100.00 0 No comment MYBPC3 100.00 0 No comment MYH7B 100.00 0 No comment MYH3 100.00 0 No comment MYH7 100.00 0 No comment MYH8 100.00 0 No comment MYOT 100.00 0 No comment NEB 99.99 0 No comment NEFH 84.73 0 No comment OPTN 100.00 0 No comment PABPN1 91.84 0 No comment PFKM 100.00 0 No comment PFN1 100.00 0 No comment PGAM2 100.00 0 No comment PGK1 100.00 0 No comment PGM1 100.00 0 No comment PHKA1 100.00 0 No comment PHKB 100.00 0 No comment PLEC 99.82 0 No comment PLEKHG5 99.10 0 No comment POLG 100.00 0 No comment POMGNT1 100.00 0 No comment POMGNT2 100.00 0 No comment POMK 100.00 0 No comment POMT1 100.00 0 No comment POMT2 99.90 0 No comment PREPL 100.00 0 No comment PYGM 100.00 0 No comment QDPR 99.04 0 No comment RAPSN 100.00 0 No comment REEP1 97.37 0 No comment RXYLT1 99.84 0 No comment RYR1 98.38 0 No comment SCN4A 100.00 0 No comment SELENON 84.04 0 No comment SETX 100.00 0 No comment SIGMAR1 96.60 0 No comment SIL1 100.00 0 No comment SLC18A3 100.00 0 No comment SLC52A2 100.00 0 No comment SLC52A3 100.00 0 No comment SLC5A7 100.00 0 No comment SMN1 96.55 0 No comment SNAP25 100.00 0 No comment SOD1 100.00 0 No comment SQSTM1 93.68 0 No comment SYT2 100.00 0 No comment TAF15 100.00 0 No comment TARDBP 100.00 0 No comment TFG 100.00 0 No comment TIA1 100.00 0 No comment TNNI2 100.00 0 No comment TNNT1 98.58 0 No comment TNNT3 100.00 0 No comment TNPO3 100.00 0 No comment TPM2 100.00 0 No comment TPM3 99.55 0 No comment TRPV4 100.00 0 No comment TSEN54 94.23 0 No comment TTN 100.00 0 No comment UBA1 100.00 0 No comment UBQLN2 99.88 0 No comment UNC13A 99.87 0 No comment VAPB 100.00 0 No comment VCP 98.45 0 No comment VEGFA 98.73 0 No comment VRK1 100.00 0 No comment