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PGM1 and cardiomyopathy are reported together in 2 articles.
Gene
PGM1
- HGNC
- HGNC:8905
4articles
4mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
Phenotype
Cardiomyopathy
- HPO
- HP:0001638
618articles
618mentions
12co-reported genes shown
Most co-reported genes (articles)
Counts are literature co-mentions in SaudiVarKB, not clinical or causal assertions. Gene details: HGNC; variant status: ClinVar via dbSNP.
Publications
2 records shown · first 60AAV-based gene therapy prevents and halts the progression of dilated cardiomyopathy in a mouse model of phosphoglucomutase 1 deficiency (PGM1-CDG).
PMID 36709920 | PMCID PMC10192047 | DOI 10.1016/j.trsl.2023.01.004 · Translational research : the journal of laboratory and clinical medicine · 2023 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | PGM1 | “Phosphoglucomutase 1 (PGM1) deficiency is recognized as the third most common N-linked congenital disorders of glycosylation (CDG) in humans.” | 0.98 | hgnc_dict_v1 |
| phenotype | cardiomyopathy | “AAV-based gene therapy prevents and halts the progression of dilated cardiomyopathy in a mouse model of phosphoglucomutase 1 deficiency (PGM1-CDG).” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | congenital myopathy | “Recently, we discovered that oral D-galactose supplementation improved liver disease, endocrine, and coagulation abnormalities, but does not alleviate the fatal cardiomyopathy and the associated myopathy.” | 0.93 | phenotype_alias_lexicon_v2 |
International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management.
PMID 32681750 | PMCID PMC7855268 | DOI 10.1002/jimd.12286 · Journal of inherited metabolic disease · 2021 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | PGM1 | “Phosphoglucomutase 1 (PGM1) deficiency is a rare genetic disorder that affects glycogen metabolism, glycolysis, and protein glycosylation.” | 0.98 | hgnc_dict_v1 |
| phenotype | cardiomyopathy | “Some patients develop life-threatening cardiomyopathy.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | cleft lip and palate | “Most patients present as infants with cleft palate, liver function abnormalities and hypoglycemia, but some patients present in adulthood with isolated muscle involvement.” | 0.93 | phenotype_alias_lexicon_v2 |