ORPHA:2089
Glycogen storage disease due to hepatic glycogen synthase deficiency
Synonyms: GSD due to hepatic glycogen synthase deficiency · GSD type 0a · Glycogen storage disease due to liver glycogen synthase deficiency · Glycogen storage disease type 0a · Glycogenosis type 0a
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
A rare genetically inherited anomaly of glycogen metabolism, considered a form of glycogen storage disease (GSD, or glycogenosis), characterized by post-meal hyperglycemia and fasting hypoglycemia. This is not a glycogenosis, strictly speaking, as there is no storage of glycogen, the enzyme deficiency preventing hepatic glycogen synthesis.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Glycogen storage disease due to hepatic glycogen synthase deficiency | GSD due to hepatic glycogen synthase deficiency · GSD type 0a · Glycogen storage disease due to liver glycogen synthase deficiency · Glycogen storage disease type 0a · Glycogenosis type 0a |
| fr | Glycogénose par déficit en glycogène synthase hépatique | GSD par déficit en glycogène synthase hépatique · GSD type 0a · Glycogénose type 0a |
| de | Glykogen-Speicherkrankheit durch hepatischen Glykogensynthase-Mangel | GSD Typ 0a · GSD durch hepatischen Glykogensynthase-Mangel · Glykogen-Speicherkrankheit Typ 0a · Glykogenose Typ 0a · Glykogensynthase-Mangel der Leber · Glykogensynthase-Mangel, hepatischer |
| es | Enfermedad por almacenamiento de glucógeno por deficiencia de glucógeno sintasa hepática | Enfermedad de almacenamiento de glucógeno tipo 0a · GSD por deficiencia de glucógeno sintasa hepática · GSD tipo 0a · Glucogenosis tipo 0a |
| it | Malattia da deposito di glicogeno dovuta a deficit di glicogeno sintasi epatica | GSD da deficit di glicogeno sintasi epatica · GSD, tipo 0a · Glicogenosi, tipo 0a · Malattia da deposito di glicogeno, tipo 0a |
| nl | Glycogeenstapelingsziekte door deficiëntie van glycogeensynthase in lever | GSD door hepatische glycogeensynthasedeficiëntie · GSD type 0a · Glycogeenstapelingsziekte door glycogeensynthasedeficiëntie in lever · Glycogeenstapelingsziekte door hepatische glycogeensynthasedeficiëntie · Glycogeenstapelingsziekte type 0a · Glycogenose type 0a |
| pt | Doença de armazenamento de glicogénio devida a deficiência de glicogénio sintetase hepática | Glicogenose por deficiência de glicogénio sintetase hepática · Glicogenose tipo 0a |
| pl | Choroba spichrzania glikogenu z powodu niedoboru wątrobowej syntazy glikogenowej | Choroba spichrzania glikogenu typu 0a · Choroba spichrzania glikogenu z powodu niedoboru wątrobowej syntazy glikogenowej · Glikogenoza typu 0a · GSD spowodowana niedoborem wątrobowej syntazy glikogenowej · GSD typu 0a |
| cs | Glykogenóza způsobená deficitem jaterní glykogensyntázy | GSD typ 0a · Glykogenóza, typ 0a · GSD způsobená deficitem jaterní glykogensyntázy |
| uk | Хвороба накопичення глікогену, зумовлена дефіцитом печінкової глікогенсинтетази | Хвороба накопичення глікогену через дефіцит глікогенсинтетази печінки · Глікогенова хвороба, тип 0a · Глікогеноз типу 0а · GSD через дефіцит печінкової глікогенсинтетази · GSD типу 0a |
| zh | 肝脏糖原合酶缺乏所致糖原贮积症 | 肝脏糖原合酶缺乏所致糖原贮积症 |
| tr | Hepatik glikojen sentaz eksikliğine bağlı glikojen depo hastalığı | GSD tipi 0a · Glikojenoz tipi 0a · Glikojen depo hastalığı tip 0a · Hepatik glikojen sentaz eksikliğine bağlı GSD · Karaciğer glikojen sentaz eksikliğine bağlı glikojen depo hastalığı |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 240600 | E | validated | |
| ICD-10 | E74.0 | NTBT | inclusion | validated |
| ICD-11 | 5C51.3 | NTBT | index | validated |
| MONDO | 0009414 | E | validated | |
| UMLS | C4510753 | E | validated | |
| GARD | 2513 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:308520Glycogen storage disease due to glycogen synthase deficiency
rare inborn errors of metabolism; rare genetic diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GYS2 | Disease-causing germline mutation(s) in | Assessed | HGNC:4707 | ENSG00000111713 | 138571 | 12p12.1 | glycogen synthase 2 |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 16 cases | Worldwide | Case(s) | Validated | 12072888[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
14 annotations · validated 2017-08-28| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0003076 | Glycosuria | |
| HP:0000737 | Irritability | |
| HP:0002919 | Ketonuria | |
| HP:0001946 | Ketosis | |
| HP:0012734 | Ketotic hypoglycemia | |
| HP:0011998 | Postprandial hyperglycemia | |
| Occasional (29-5%) | ||
| HP:0011024 | Abnormality of the gastrointestinal tract | |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0001508 | Failure to thrive | |
| HP:0001263 | Global developmental delay | |
| HP:0003077 | Hyperlipidemia | |
| HP:0001254 | Lethargy | |
| HP:0001250 | Seizure | |
| HP:0004322 | Short stature | |
Annotation source: 16337419[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2089
- This record as JSON: /data/d/2089.json