PedAM
Pediatric Disease Annotations & Medicines
| glycogen storage disease iv | ||||
| Disease ID | 1628 |
|---|---|
| Disease | glycogen storage disease iv |
| Definition | An autosomal recessive metabolic disorder due to a deficiency in expression of glycogen branching enzyme 1 (alpha-1,4-glucan-6-alpha-glucosyltransferase), resulting in an accumulation of abnormal GLYCOGEN with long outer branches. Clinical features are MUSCLE HYPOTONIA and CIRRHOSIS. Death from liver disease usually occurs before age 2. |
| Synonym | 1,4,alpha-glucan 6-alpha-glucosyltransferase deficiency amylopectinoses amylopectinosis andersen dis andersen disease andersen's disease andersens dis andersens disease brancher defic brancher deficiencies brancher deficiency brancher deficiency amylopectinosis brancher deficiency glycogen storage disease brancher deficiency glycogenosis brancher enzyme deficiency brancher glycogen storage disease branching enzyme deficiency branching-transferase deficiency glycogenosis branching-transferase deficiency glycogenosis (disorder) defic brancher deficiencies, brancher deficiencies, gbe1 deficiency of 1,4-alpha-glucan branching enzyme deficiency of 1,4-alpha-glucan branching enzyme (disorder) deficiency of amylo-(1,4,6)-transglycosylase deficiency of branching enzyme deficiency, brancher deficiency, gbe1 disease, andersen disease, andersen's gbe1 deficiencies gbe1 deficiency glycogen branching enzyme deficiency glycogen storage dis iv glycogen storage disease type 4 glycogen storage disease type iv glycogen storage disease type iv [disease/finding] glycogen storage disease, type 4 glycogen storage disease, type iv glycogen storage disease, type iv (disorder) glycogenoses, type iv glycogenosis 04 glycogenosis 4 glycogenosis 4s glycogenosis iv glycogenosis ivs glycogenosis type 4 glycogenosis type iv glycogenosis, type 4 glycogenosis, type iv gsd iv gsd4 type iv glycogen storage disease type iv glycogenoses type iv glycogenosis |
| OMIM | |
| DOID | |
| UMLS | C0017923 |
| MeSH | |
| SNOMED-CT | |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:25) 5836 | PYGL | DISEASES 9499 | MYOT | DISEASES 7168 | TPM1 | DISEASES 51422 | PRKAG2 | DISEASES 1278 | COL1A2 | DISEASES 5913 | RAPSN | DISEASES 2548 | GAA | DISEASES 2720 | GLB1 | DISEASES 55072 | RNF31 | DISEASES 3355 | HTR1F | DISEASES 5449 | POU1F1 | DISEASES 8481 | OFD1 | DISEASES 285489 | DOK7 | DISEASES 378884 | NHLRC1 | DISEASES 10616 | RBCK1 | DISEASES 1756 | DMD | DISEASES 958 | CD40 | DISEASES 11155 | LDB3 | DISEASES 3920 | LAMP2 | DISEASES 834 | CASP1 | DISEASES 2632 | GBE1 | DISEASES 6092 | ROBO2 | DISEASES 23429 | RYBP | DISEASES 6091 | ROBO1 | DISEASES 270 | AMPD1 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 1628 |
|---|---|
| Disease | glycogen storage disease iv |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 1628 |
|---|---|
| Disease | glycogen storage disease iv |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
All Snps(Total Genotypes:13) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs137852886 | NA | 2632 | GBE1 | umls:C0017923 | CLINVAR | NA | 0.572506189 | NA | GBE1 | 3 | 81648876 | A | G |
| rs137852887 | NA | 2632 | GBE1 | umls:C0017923 | CLINVAR | NA | 0.572506189 | NA | GBE1 | 3 | 81646403 | A | T |
| rs137852888 | NA | 2632 | GBE1 | umls:C0017923 | CLINVAR | NA | 0.572506189 | NA | GBE1 | 3 | 81577973 | G | A |
| rs137852889 | NA | 2632 | GBE1 | umls:C0017923 | CLINVAR | NA | 0.572506189 | NA | GBE1 | 3 | 81537080 | T | C |
| rs137852890 | NA | 2632 | GBE1 | umls:C0017923 | CLINVAR | NA | 0.572506189 | NA | GBE1 | 3 | 81536940 | C | T,A |
| rs137852891 | NA | 2632 | GBE1 | umls:C0017923 | CLINVAR | NA | 0.572506189 | NA | GBE1 | 3 | 81535246 | T | C |
| rs137852894 | NA | 2632 | GBE1 | umls:C0017923 | CLINVAR | NA | 0.572506189 | NA | GBE1 | 3 | 81537071 | C | T |
| rs192044702 | NA | 2632 | GBE1 | umls:C0017923 | CLINVAR | NA | 0.572506189 | NA | GBE1 | 3 | 81648854 | A | G |
| rs397515343 | NA | 2632 | GBE1 | umls:C0017923 | CLINVAR | NA | 0.572506189 | NA | GBE1 | 3 | 81761374 | C | T |
| rs397515344 | NA | 2632 | GBE1 | umls:C0017923 | CLINVAR | NA | 0.572506189 | NA | GBE1 | 3 | 81648851 | C | G |
| rs80338671 | NA | 2632 | GBE1 | umls:C0017923 | CLINVAR | NA | 0.572506189 | NA | GBE1 | 3 | 81642787 | T | G,C |
| rs80338672 | NA | 2632 | GBE1 | umls:C0017923 | CLINVAR | NA | 0.572506189 | NA | GBE1 | 3 | 81578000 | G | A |
| rs80338673 | NA | 2632 | GBE1 | umls:C0017923 | CLINVAR | NA | 0.572506189 | NA | GBE1 | 3 | 81577972 | C | T |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
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| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
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| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
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| (Waiting for update.) |
Chemical(Total Drugs:0) | |
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| (Waiting for update.) | |
FDA approved drug and dosage information(Total Drugs:0) | |
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| (Waiting for update.) | |
FDA labeling changes(Total Drugs:0) | |
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| (Waiting for update.) | |