ORPHA:308670
Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form
Synonyms: GBE deficiency, congenital neuromuscular form · GSD due to glycogen branching enzyme deficiency, congenital neuromuscular form · GSD type 4, congenital neuromuscular form · GSDIV, congenital neuromuscular form · Glycogen storage disease type 4, congenital neuromuscular form · Glycogen storage disease type IV, congenital neuromuscular form · Glycogenosis due to glycogen branching enzyme deficiency, congenital neuromuscular form · Glycogenosis type 4, congenital neuromuscular form · Glycogenosis type IV, congenital neuromuscular form
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Status
- active
This disease is described under Glycogen storage disease due to glycogen branching enzyme deficiency
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form | GBE deficiency, congenital neuromuscular form · GSD due to glycogen branching enzyme deficiency, congenital neuromuscular form · GSD type 4, congenital neuromuscular form · GSDIV, congenital neuromuscular form · Glycogen storage disease type 4, congenital neuromuscular form · Glycogen storage disease type IV, congenital neuromuscular form · Glycogenosis due to glycogen branching enzyme deficiency, congenital neuromuscular form · Glycogenosis type 4, congenital neuromuscular form · Glycogenosis type IV, congenital neuromuscular form |
| fr | Glycogénose par déficit en enzyme branchante, forme neuromusculaire congénitale | GSD par déficit en enzyme branchante, forme neuromusculaire congénitale · GSD type 4, forme neuromusculaire congénitale · GSDIV, forme neuromusculaire congénitale · Glycogénose type 4, forme neuromusculaire congénitale · Glycogénose type IV, forme neuromusculaire congénitale |
| de | Glykogenose durch Glykogen-Branching-Enzym-Mangel, kongenitale neuromuskuläre Form | GBE-Mangel, kongenitaler, neuromuskuläre Form · GSD Typ 4, kongenitale neuromuskuläre Form · GSD durch Glykogen-Branching-Enzym-Mangel, kongenitale neuromuskuläre Form · GSDIV, kongenitale neuromuskuläre Form · Glykogen-Speicherkrankheit IV, kongenitale neuromuskuläre Form · Glykogen-Speicherkrankheit Typ 4, kongenitale, neuromuskuläre Form · Glykogen-Speicherkrankheit durch Glykogen-Branching-Enzym-Mangel, kongenitale neuromuskuläre Form · Glykogenose Typ 4, kongenitale, neuromuskuläre Form · Glykogenose Typ IV, kongenitale, neuromuskuläre Form |
| es | Enfermedad por almacenamiento de glucógeno por deficiencia de la enzima desramificante del glucógeno, forma neuromuscular congénita | GSD tipo 4, forma neuromuscular congénita · GSDIV, forma neuromuscular congénita · Glucogenosis por deficiencia de la enzima desramificante del glucógeno, forma neuromuscular congénita · Glucogenosis tipo 4, forma neuromuscular congénita · Glucogenosis tipo IV, forma neuromuscular congénita · Deficiencia de GDE, forma neuromuscular congénita · Enfermedad de almacenamiento de glucógeno tipo 4, forma neuromuscular congénita · Enfermedad de almacenamiento de glucógeno tipo IV, forma neuromuscular congénita · GSD por deficiencia de la enzima desramificante del glucógeno, forma neuromuscular congénita |
| it | Malattia da deposito di glicogeno dovuta a deficit dell'enzima ramificante del glicogeno, forma neuromuscolare congenita | Deficit di GBE, forma neuromuscolare congenita · GSD da deficit dell'enzima ramificante del glicogeno, forma neuromuscolare congenita · GSD tipo 4, forma neuromuscolare congenita · GSDIV, forma neuromuscolare congenita · Glicogenosi da deficit dell'enzima ramificante del glicogeno, forma neuromuscolare congenita · Glicogenosi tipo 4, forma neuromuscolare congenita · Malattia da deposito di glicogeno tipo 4, forma neuromuscolare congenita |
| nl | Glycogeenstapelingsziekte door glycogeen branching-enzymdeficiëntie, congenitale neuromusculaire vorm | GBE-deficiëntie, congenitale neuromusculaire vorm · GSD door glycogeen branching-enzymdeficiëntie, congenitale neuromusculaire vorm · GSD type 4, congenitale neuromusculaire vorm · GSDIV, congenitale neuromusculaire vorm · Glycogeenstapelingsziekte type 4, congenitale neuromusculaire vorm · Glycogeenstapelingsziekte type IV, congenitale neuromusculaire vorm · Glycogenose door glycogeen branching-enzymdeficiëntie, congenitale neuromusculaire vorm · Glycogenose type 4, congenitale neuromusculaire vorm · Glycogenose type IV, congenitale neuromusculaire vorm |
| pt | Doença de armazenamento de glicogénio por deficiência de enzima desramificadora do glicogénio, forma neuromuscular congénita | Glicogenose por deficiência de enzima desramificadora do glicogénio, forma neuromuscular congénita |
| pl | Choroba spichrzania glikogenu z powodu niedoboru enzymu rozgałęziającego glikogen, postać wrodzona nerwowo-mięśniowa | Choroba spichrzania glikogenu typu 4, postać wrodzona nerwowo-mięśniowa · Glikogenoza typu 4, postać wrodzona nerwowo-mięśniowa · Glikogenoza z powodu niedoboru enzymu rozgałęziającego glikogen, postać wrodzona nerwowo-mięśniowa · GSD typu 4, postać wrodzona nerwowo-mięśniowa · GSD z powodu niedoboru enzymu rozgałęziającego glikogen, postać wrodzona nerwowo-mięśniowa · GSDIV, postać wrodzona nerwowo-mięśniowa · Niedobór GBE, postać wrodzona nerwowo-mięśniowa |
| cs | Glykogenóza způsobená deficitem glykogen větvícího enzymu, vrozená neuromuskulární forma | GBE deficit, vrozená neuromuskulární forma · GSD typ 4, vrozená neuromuskulární forma · GSDIV, vrozená neuromuskulární forma · Glykogenóza, typ IV, vrozená neuromuskulární forma · Glykogenóza, typ 4, vrozená neuromuskulární forma · GSD způsobená deficitem glykogen větvícího enzymu, vrozená neuromuskulární forma |
| uk | Хвороба накопичення глікогену, зумовлена дефіцитом ферменту розгалуження глікогену, вроджена нервово-мязова форма | Дефіцит GBE, вроджена нервово-мязова форма · Хвороба накопичення глікогену 4 типу, вроджена нервово-мязова форма · Хвороба накопичення глікогену IV типу, вроджена нервово-мязова форма · Глікогеноз внаслідок дефіциту ферменту розгалуження глікогену, вроджена нервово-мязова форма · Глікогеноз 4 типу, вроджена нервово-мязова форма · Глікогеноз IV типу, вроджена нервово-мязова форма · GSD внаслідок дефіциту ферменту розгалуження глікогену, вроджена нервово-мязова форма · GSD типу 4, вроджена нервово-мязова форма · GSDIV, вроджена нервово-мязова форма |
| zh | 先天性神经肌肉型糖原分支酶缺乏致糖原贮积症 | 先天性神经肌肉型GSDIV |
| tr | Glikojen dallanan enzim eksikliğine bağlı glikojen depo hastalığı, doğumsal nöromüsküler form | GSD tip 4, doğumsal nöromüsküler form · GBE eksikliği, doğumsal nöromüsküler form · Glikojenoz tip 4, doğumsal nöromüsküler form · Glikojenoz tip IV, doğumsal nöromüsküler form · Glikojen depo hastalığı tip 4, doğumsal nöromüsküler form · Glikojen depo hastalığı tip IV, doğumsal nöromüsküler form · Glikojen dallanma enzim eksikliğine bağlı GSD, doğumsal nöromüsküler form · Glikojen dallanma enzim eksikliğine bağlı glikojenoz, doğumsal nöromüsküler form · GSDIV, doğumsal nöromüsküler form |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 232500 | NTBT | validated | |
| ICD-10 | E74.0 | NTBT | attributed | validated |
| ICD-11 | 5C51.3 | NTBT | attributed | validated |
| MONDO | 0017698 | E | validated | |
| MeSH | C565542 | E | validated | |
| UMLS | C1856304 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:367Glycogen storage disease due to glycogen branching enzyme deficiency
rare cardiac diseases; rare inborn errors of metabolism; rare genetic diseases; rare neurological diseases; rare hepatic diseases; rare transplant-related disorders
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GBE1 | Disease-causing germline mutation(s) in | Assessed | HGNC:4180 | ENSG00000114480 | 607839 | 3p12.2 | 1,4-alpha-glucan branching enzyme 1 |
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/308670
- This record as JSON: /data/d/308670.json