ORPHA:366
Glycogen storage disease due to glycogen debranching enzyme deficiency
Synonyms: Amylo-1,6-glucosidase deficiency · Cori disease · Cori-Forbes disease · Forbes disease · GDE deficiency · GSD due to glycogen debranching enzyme deficiency · GSD type 3 · GSDIII · Glycogen storage disease type 3 · Glycogen storage disease type III · Glycogenosis due to glycogen debranching enzyme deficiency · Glycogenosis type 3 · Glycogenosis type III · Limit dextrinosis
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy
- Status
- active
A rare inborn error of metabolism disease characterized by variable liver, skeletal muscle and cardiac involvement, usually presenting in early childhood.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Glycogen storage disease due to glycogen debranching enzyme deficiency | Amylo-1,6-glucosidase deficiency · Cori disease · Cori-Forbes disease · Forbes disease · GDE deficiency · GSD due to glycogen debranching enzyme deficiency · GSD type 3 · GSDIII · Glycogen storage disease type 3 · Glycogen storage disease type III · Glycogenosis due to glycogen debranching enzyme deficiency · Glycogenosis type 3 · Glycogenosis type III · Limit dextrinosis |
| fr | Glycogénose par déficit en enzyme débranchante | Dextrinose limite · Déficit en amylo-1,6-glucosidase · GSD par déficit en enzyme débranchante · GSD type 3 · GSD type III · GSDIII · Glycogénose type 3 · Glycogénose type III · Maladie de Cori · Maladie de Cori-Forbes · Maladie de Forbes |
| de | Glykogenose Typ 3 | Amylo-1,6-Glukosidase-Mangel · Cori-Forbes-Krankheit · Cori-Krankheit · Forbes-Krankheit · GDE-Mangel · GSD Typ 3 · GSD durch Glykogen-Debranching-Enzym-Mangel · GSDIII · Glykogen-Speicherkrankheit Typ 3 · Glykogen-Speicherkrankheit Typ III · Glykogen-Speicherkrankheit durch Glykogen-Debranching-Enzym-Mangel · Glykogenose Typ III · Glykogenose durch Glykogen-Debranching-Enzym-Mangel · Limit-Dextrinose |
| es | Enfermedad por almacenamiento de glucógeno por deficiencia de enzima desramificante del glucógeno | Deficiencia de GDE · Deficiencia de amilo-1,6- glucosidasa · Dextrinosis límite · Enfermedad de Cori · Enfermedad de Cori-Forbes · Enfermedad de Forbes · Enfermedad de almacenamiento de glucógeno tipo 3 · Enfermedad de almacenamiento de glucógeno tipo III · GSD por deficiencia de enzima desramificante del glucógeno · GSD tipo 3 · GSDIII · Glucogenosis por deficiencia de enzima desramificante del glucógeno · Glucogenosis tipo 3 · Glucogenosis tipo III |
| it | Malattia da deposito di glicogeno da deficit dell'enzima deramificante il glicogeno | Deficit di GDE · Deficit di amilo-1,6-glucosidasi · Destrinosi limite · GSD da deficit dell'enzima deramificante il glicogeno · GSD, tipo 3 · GSDIII · Glicogenosi da deficit dell'enzima deramificante il glicogeno · Glicogenosi, tipo 3 · Malattia da deposito di glicogeno, tipo 3 · Malattia di Cori · Malattia di Cori-Forbes · Malattia di Forbe |
| nl | Glycogeenstapelingsziekte door glycogeen debranching-enzymdeficiëntie | Amylo-1,6-glucosidasedeficiëntie · GDE-deficiëntie · GSD door glycogeen debranching-enzymdeficiëntie · GSD type 3 · GSD type III · GSD-3 · GSDIII · Glycogeenstapelingsziekte type 3 · Glycogeenstapelingsziekte type III · Glycogenose door glycogeen debranching-enzymdeficiëntie · Glycogenose type 3 · Glycogenose type III · Limiet-dextrinose · Ziekte van Cori · Ziekte van Cori-Forbes · Ziekte van Forbes |
| pt | Doença de armazenamento de glicogénio por deficiência na desramificação do glicogénio | Deficiência de amilo-1,6-glucosidase · Deficiência na desramificação do glicogénio · Doença de armazenamento de glicogénio tipo 3 · Glicogenose tipo 3 |
| pl | Choroba spichrzania glikogenu spowodowana niedoborem enzymu odgałęziającego glikogen | Chorba Coriego i Forbesa · Choroba Coriego · Choroba Forbesa · Choroba spichrzania glikogenu typu 3 · Dekstrynoza graniczna · Glikogenoza spowodowana niedoborem enzymu odgałęziającego glikogen · Glikogenoza typu 3 · GSD spowodowana niedoborem enzymu odgałęziającego glikogen · GSD typu 3 · GSDIII · Niedobór amylo-1,6-glukozydazy · Niedobór GDE |
| cs | Glykogenóza způsobená deficitem glykogen odvětvujícího enzymu | Deficit amylo-1,6-glukosidázy · Coriho nemoc · Coriho-Forbesova nemoc · Forbesova nemoc · Deficit GDE · GSD typ 3 · GSD III · Glykogenóza, typ 3 · Glykogenóza, typ III · GSD způsobená deficitem glykogen odvětvujícího enzymu · Cori-Forbesova nemoc |
| uk | Хвороба накопичення глікогену, зумовлена дефіцитом ферменту розщеплення глікогену | Дефіцит аміло-1,6-глюкозидази · Хвороба Корі · Хвороба Корі-Форбса · Хвороба Форбса · Дефіцит GDE · Глікогенова хвороба 3-го типу · Хвороба накопичення глікогену III типу · Глікогеноз внаслідок дефіциту ферменту розщеплення глікогену · Глікогеноз 3 типу · Глікогеноз III типу · GSD внаслідок дефіциту ферменту розщеплення глікогену · GSD тип 3 · GSDIII · Обмежений декстриноз |
| zh | 糖原脱支酶缺乏所致糖原贮积病 | 糖原脱支酶缺乏所致糖原贮积病 |
| tr | Glikojen budayıcı enzimi eksikliğine bağlı glikojen depo hastalığı | GSDIII · GSD tip 3 · Cori hastalığı · Forbes hastalığı · GDE eksikliği · Limit dekstrinoz · Cori-Forbes hastalığı · Glikojenoz tip 3 · Glikojenoz tip III · Glikojen depo hastalığı tip 3 · Amilo-1,6-glukozidaz eksikliği · Glikojen depo hastalığı tip III · Glikojen budayıcı enzim eksikliğine bağlı GSD · Glikojen budayıcı enzim eksikliğine bağlı glikojenoz |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 232400 | E | validated | |
| ICD-10 | E74.0 | NTBT | inclusion | validated |
| ICD-11 | 5C51.3 | NTBT | index | validated |
| MONDO | 0009291 | E | validated | |
| MeSH | D006010 | E | validated | |
| UMLS | C0017922 | E | validated | |
| GARD | 9442 | E | validated | |
| MedDRA | 10053250 | 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 (4):
- ORPHA:79201Glycogen storage disease
rare inborn errors of metabolism; rare genetic diseases - ORPHA:217572Glycogen storage disease with hypertrophic cardiomyopathy
rare cardiac diseases; rare genetic diseases; rare transplant-related disorders - ORPHA:206959Muscular glycogenosis
rare genetic diseases; rare neurological diseases - ORPHA:101940Rare metabolic liver disease
rare genetic diseases; rare hepatic diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| AGL | Disease-causing germline mutation(s) in | Assessed | HGNC:321 | ENSG00000162688 | 610860 | 1p21.2 | amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase | 10571954[PMID]_17908927[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 1 / 100 000 | United States | Value and class | Validated | 9412782[PMID] |
| Point prevalence | Unknown | — | 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
7 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000293 | Full cheeks | |
| HP:0002155 | Hypertriglyceridemia | |
| HP:0001943 | Hypoglycemia | |
| HP:0002721 | Immunodeficiency | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0004322 | Short stature | |
| Frequent (79-30%) | ||
| HP:0003198 | Myopathy | |
Run the differential on the 6 obligate / very frequent terms
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/366
- This record as JSON: /data/d/366.json