ORPHA:367
Glycogen storage disease due to glycogen branching enzyme deficiency
Synonyms: Amylopectinosis · Andersen disease · GSD due to glycogen branching enzyme deficiency · GSD type 4 · GSD type IV · Glycogen storage disease type 4 · Glycogen storage disease type IV · Glycogenosis due to glycogen branching enzyme deficiency · Glycogenosis type 4 · Glycogenosis type IV
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- All ages
- Status
- active
A rare form of glycogen storage disease characterized by a continuum of clinical manifestations of variable presentation and severity, involving hepatic, neuromuscular and/or cardiac symptoms.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Glycogen storage disease due to glycogen branching enzyme deficiency | Amylopectinosis · Andersen disease · GSD due to glycogen branching enzyme deficiency · GSD type 4 · GSD type IV · Glycogen storage disease type 4 · Glycogen storage disease type IV · Glycogenosis due to glycogen branching enzyme deficiency · Glycogenosis type 4 · Glycogenosis type IV |
| fr | Glycogénose par déficit en enzyme branchante | Amylopectinose · GSD par déficit en enzyme branchante · GSD type 4 · GSD type IV · Glycogénose type 4 · Glycogénose type IV · Maladie d'Andersen |
| de | Glykogenose Typ 4 | Amylopektinose · Andersen-Glykogenose · GSD Typ 4 · GSD Typ IV · GSD durch Glykogen-Branching-Enzym-Mangel · Glykogen-Speicherkrankheit Typ 4 · Glykogen-Speicherkrankheit Typ IV · Glykogen-Speicherkrankheit durch Glykogen-Branching-Enzym-Mangel · Glykogenose Typ IV · Glykogenose durch Glykogen-Branching-Enzym-Mangel |
| es | Enfermedad por almacenamiento de glucógeno por deficiencia de enzima ramificante del glucógeno | Amilopectinosis · Enfermedad de Andersen · Enfermedad de almacenamiento de glucógeno tipo 4 · Enfermedad de almacenamiento de glucógeno tipo IV · GSD por deficiencia de enzima ramificante del glucógeno · GSD tipo 4 · GSD tipo IV · Glucogenosis por deficiencia de enzima ramificante del glucógeno · Glucogenosis tipo 4 · Glucogenosis tipo IV |
| it | Malattia da deposito di glicogeno da deficit dell'enzima ramificante il glicogeno | Amilopectinosi · GSD da deficit dell'enzima ramificante il glicogeno · GSD, tipo 4 · Glicogenosi da deficit dell'enzima ramificante il glicogeno · Glicogenosi, tipo 4 · Malattia da deposito di glicogeno, tipo 4 · Malattia di Andersen |
| nl | Glycogeenstapelingsziekte door glycogeen branching-enzymdeficiëntie | Amylopectinose · GSD door glycogeen branching-enzymdeficiëntie · GSD type 4 · GSD type IV · Glycogeenstapelingsziekte type 4 · Glycogeenstapelingsziekte type IV · Glycogenose door glycogeen branching-enzymdeficiëntie · Glycogenose type 4 · Glycogenose type IV · Ziekte van Andersen |
| pt | Doença de armazenamento de glicogénio por deficiência na ramificação do glicogénio | Amilopectinose · Deficiência na ramificação do glicogénio · Doença de Andersen · Doença de armazenamento de glicogénio tipo 4 · Glicogenose tipo 4 |
| pl | Choroba spichrzania glikogenu spowodowana niedoborem enzymu rozgałęziającego | Amylopektynoza · Choroba Andersen · Choroba spichrzania glikogenu typu 4 · Glikogenoza spowodowana niedoborem enzymu rozgałęziającego · Glikogenoza typu 4 · GSD spowodowana niedoborem enzymu rozgałęziającego · GSD typu 4 |
| cs | Glykogenóza způsobená deficitem glykogen větvícího enzymu | Amylopektinóza · Andersenova nemoc · GSD typ 4 · GSD IV · Glykogenóza, typ 4 · Glykogenóza, typ IV · GSD způsobená deficitem glykogen větvícího enzymu |
| uk | Хвороба накопичення глікогену, зумовлена дефіцитом ферменту розгалуження глікогену | Амілопектиноз · Хвороба Андерсена · Глікогенова хвороба 4-го типу · Глікогенова хвороба IV типу · Глікогеноз внаслідок дефіциту ферменту розгалуження глікогену · Глікогеноз 4 типу · Глікогеноз IV типу · GSD внаслідок дефіциту ферменту розгалуження глікогену · GSD тип 4 · GSD тип IV |
| zh | 糖原分支酶缺乏所致糖原贮积病 | 糖原分支酶缺乏所致糖原贮积病 |
| tr | Glikojeni dallandıran enzim eksikliğine bağlı glikojen depo hastalığı | GSD tip 4 · GSD tip IV · Amilopektinoz · Andersen hastalığı · Glikojenoz tip 4 · Glikojenoz tip IV · Glikojen depo hastalığı tip 4 · Glikojen depo hastalığı tip IV · Glikojen dallanma enzim eksikliğine bağlı GSD · Glikojen dallanma enzim eksikliğine bağlı glikojenoz |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 232500 | BTNT | validated | |
| OMIM | 263570 | BTNT | validated | |
| ICD-10 | E74.0 | NTBT | inclusion | validated |
| ICD-11 | 5C51.3 | NTBT | index | validated |
| MONDO | 0009292 | E | validated | |
| MeSH | D006011 | E | validated | |
| UMLS | C0017923 | E | validated | |
| GARD | 2520 | E | validated | |
| MedDRA | 10053249 | 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 (6):
- ORPHA:217607Familial dilated cardiomyopathy
rare cardiac diseases; rare genetic diseases - ORPHA:79201Glycogen storage disease
rare inborn errors of metabolism; rare genetic diseases - ORPHA:206959Muscular glycogenosis
rare genetic diseases; rare neurological diseases - ORPHA:506225Rare disorder potentially indicated for heart transplant
rare transplant-related disorders - ORPHA:506210Rare disorder potentially indicated for liver transplant
rare transplant-related disorders - ORPHA:101940Rare metabolic liver disease
rare genetic diseases; rare hepatic diseases
Children (8):
- ORPHA:206583Adult polyglucosan body disease
- ORPHA:308712Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form
- ORPHA:308684Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form
- ORPHA:308698Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form
- ORPHA:308670Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form
- ORPHA:308655Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form
- ORPHA:308638Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form
- ORPHA:308621Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form
4
Genes
0 direct · 8 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.1 / 100 000 | Worldwide | Value and class | Not yet validated | 23285490[PMID] |
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet 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
30 annotations · validated 2020-02-05| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0031331 | Abnormal cardiomyocyte morphology | |
| HP:0012269 | Abnormal muscle glycogen content | |
| HP:0500032 | Abnormal neuron branching | |
| HP:0001410 | Decreased liver function | |
| HP:0011354 | Generalized abnormality of skin | |
| HP:0002240 | Hepatomegaly | |
| Frequent (79-30%) | ||
| HP:0001644 | Dilated cardiomyopathy | |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0001508 | Failure to thrive | |
| HP:0001290 | Generalized hypotonia | |
| HP:0003073 | Hypoalbuminemia | |
| HP:0001270 | Motor delay | |
| HP:0003198 | Myopathy | |
| Occasional (29-5%) | ||
| HP:0001541 | Ascites | |
| HP:0001394 | Cirrhosis | |
| HP:0001635 | Congestive heart failure | |
| HP:0002040 | Esophageal varix | |
| HP:0001989 | Fetal akinesia sequence | |
| HP:0001371 | Flexion contracture | |
| HP:0001399 | Hepatic failure | |
| HP:0001433 | Hepatosplenomegaly | |
| HP:0001790 | Nonimmune hydrops fetalis | |
| HP:0001561 | Polyhydramnios | |
| HP:0001409 | Portal hypertension | |
| HP:0003645 | Prolonged partial thromboplastin time | |
| HP:0008151 | Prolonged prothrombin time | |
| HP:0002098 | Respiratory distress | |
| HP:0002093 | Respiratory insufficiency | |
| HP:0006829 | Severe muscular hypotonia | |
| HP:0003202 | Skeletal muscle atrophy | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 30228975[PMID]_23285490[PMID]_31363843[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/367
- This record as JSON: /data/d/367.json