Glycogen Storage Disease Type III(Glycogen storage disease due to glycogen debranching enzyme deficiency) Explore Disorder's Alias
An Autosomal recessive mode(s) within the Metabolic disorders category
Candidate Gene Information
An Autosomal recessive mode(s) within the Metabolic disorders category
Reported Pathogenic variants
| S.No. | Name/GeneID | Description | Cytogentic Band | Gene Location on genomic DNA | Gene Length | Exons | Details | Gene Cross-References |
| 1 | AGL/178 | amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase | 1p21.2 | Chr1, NC_000001.11 (99849258..99924023) |
74766 nt | 37 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | AFG3L2/10939 | AFG3 like matrix AAA peptidase subunit 2 | 18p11.21 | Chr18, NC_000018.10 (12328944..12377227, complement) |
48284 nt | 17 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: Orphanet OMIM GARD GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities
Prevalence
| Under development |