PGM1-CDG
Synonyms: CDG syndrome type It · CDG-It · CDG1T · Congenital disorder of glycosylation type 1t · Congenital disorder of glycosylation type It · PGM1-related congenital disorder of glycosylation · Phosphoglucomutase-1 deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, genetic, congenital disorder of glycosylation and glycogen storage disease characterized by a wide range of clinical manifestations, most commonly presenting with bifid uvula with or without cleft palate at birth, associated with growth delay, hepatopathy with elevated aminotransferase serum levels, myopathy (including exercise-related fatigue, exercise intolerance, muscle weakness), intermittent hypoglycemia, and dilated cardiomyopathy and/or cardiac arrest, due to decreased phosphoglucomutase 1 enzyme activity. Less common manifestations include malignant hyperthermia, rhabdomyolysis, and hypogonadotropic hypogonadism with delayed puberty.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | PGM1-CDG | CDG syndrome type It · CDG-It · CDG1T · Congenital disorder of glycosylation type 1t · Congenital disorder of glycosylation type It · PGM1-related congenital disorder of glycosylation · Phosphoglucomutase-1 deficiency |
| fr | PGM1-CDG | Anomalie congénitale de la glycosylation associée à PGM1 · Anomalie congénitale de la glycosylation type 1t · CDG-It · CDG1T · Déficit en phosphoglucomutase-1 · Syndrome CDG type It · Syndrome des glycoprotéines déficientes en hydrates de carbone type It |
| de | PGM1-CDG | CDG (Congenital Disorder of Glycosylation) Typ 1t · CDG-It · CDG-Syndrom Typ It · CDG1t · Kohlenhydrat-defizientes Glykoprotein-Syndrom Typ It · Kongenitaler Defekt der Glycoproteinbiosynthese Typ It · Phosphoglukomutase-1-Mangel |
| es | PGM1-CDG | CDG-It · CDG1T · Deficiencia de fosfoglucomutasa-1 · Síndrome CDG tipo It · Trastorno congénito de la glicosilación asociado a PGM1 · Trastorno congénito de la glicosilación tipo 1t · Trastorno congénito de la glicosilación tipo It |
| it | CDG-PGM1 | |
| nl | PGM1-CDG | CDG-It · CDG-syndroom type It · CDG1T · Congenitale defecten van de glycosylering type 1t · Congenitale defecten van de glycosylering type It · Congenitale glycosylatiestoornis type 1t · Congenitale glycosylatiestoornis type It · Fosfoglucomutase-1-deficiëntie · PGM1-gerelateerde congenitale glycosylatiestoornis |
| pt | Síndrome PGM -CDG | |
| pl | PGM1-CDG | CDG1t · CDG-It · Zespół CDG typu It |
| cs | PGM1-CDG | CDG syndrom, typ It · CDG-It · CDG1T |
| uk | PGM1-CDG | Синдром CDG, тип It · CDG1T · CDG-It · Вроджене порушення глікозилювання типу 1t · Вроджене порушення глікозилювання типу It · Вроджене порушення глікозилювання, повязане з PGM1 · Дефіцит фосфоглюкомутази-1 |
| zh | PGM1基因型先天性糖基化障碍 | PGM1基因相关性先天性糖基化障碍 |
| tr | PGM1-CDG | CDG1T · CDG-It · CDG sendromu tip It · Fosfoglukomutaz-1 eksikliği · Doğumsal glikozilasyon bozukluğu tip 1t · Doğumsal glikozilasyon bozukluğu tip It · PGM1-ilişkili doğumsal glikozilasyon bozukluğu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614921 | E | validated | |
| ICD-10 | E77.8 | NTBT | attributed | validated |
| ICD-11 | 5C54.0 | NTBT | index | validated |
| MONDO | 0013968 | E | validated | |
| UMLS | C2752015 | E | validated | |
| GARD | 4329 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:371176Congenital disorder of glycosylation with dilated cardiomyopathy
rare cardiac diseases; rare genetic diseases; rare transplant-related disorders - ORPHA:371157Congenital disorder of glycosylation with hepatic involvement
rare genetic diseases; rare hepatic diseases - ORPHA:309347Disorder of protein N-glycosylation
rare inborn errors of metabolism; rare genetic diseases - ORPHA:79201Glycogen storage disease
rare inborn errors of metabolism; rare genetic diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:711Glycogen storage disease due to phosphoglucomutase deficiency moved to · inactive
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PGM1 | Disease-causing germline mutation(s) in | Assessed | HGNC:8905 | ENSG00000079739 | 171900 | 1p31.3 | phosphoglucomutase 1 | 22492991[PMID]_24499211[PMID]_19625727[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 46 cases | Worldwide | Case(s) | Validated | 27206562[PMID]_24499211[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_27206562[PMID]_24499211[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/319646
- This record as JSON: /data/d/319646.json