ORPHA:308552
Glycogen storage disease due to acid maltase deficiency, infantile onset
Synonyms: Alpha-1,4-glucosidase acid deficiency, infantile onset · GSD due to acid maltase deficiency, infantile onset · GSD type 2, infantile onset · GSD type II, infantile onset · Glycogen storage disease type 2, infantile onset · Glycogen storage disease type II, infantile onset · Glycogenosis due to acid maltase deficiency, infantile onset · Glycogenosis type 2, infantile onset · Glycogenosis type II, infantile onset · Pompe disease, infantile onset
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
Glycogen storage disease due to acid maltase deficiency, infantile onset is the most severe form of glycogen storage disease due to acid maltase deficiency, characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties. It is often fatal.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Glycogen storage disease due to acid maltase deficiency, infantile onset | Alpha-1,4-glucosidase acid deficiency, infantile onset · GSD due to acid maltase deficiency, infantile onset · GSD type 2, infantile onset · GSD type II, infantile onset · Glycogen storage disease type 2, infantile onset · Glycogen storage disease type II, infantile onset · Glycogenosis due to acid maltase deficiency, infantile onset · Glycogenosis type 2, infantile onset · Glycogenosis type II, infantile onset · Pompe disease, infantile onset |
| fr | Glycogénose par déficit en maltase acide à début infantile | Déficit en alpha-1,4-glucosidase acide à début infantile · Glycogénose type 2 à début infantile · Glycogénose type II à début infantile · Maladie de Pompe à début infantile |
| de | Glykogenose Typ 2, infantile Form | Glykogen-Speicherkrankheit Typ 2, infantile Form · Glykogen-Speicherkrankheit durch Saure-Maltase-Mangel, infantile Form · Glykogen-SpeicherkrankheitTyp II, infantile Form · Glykogenose Typ II, infantile Form · Glykogenose durch Saure-Maltase-Mangel, infantile Form · Pompe-Krankheit, infantile Form · Alpha-1,4-Glukosidase-Mangel, infantile Form · GSD Typ 2, infantile Form · GSD Typ II, infantile Form · GSD durch Saure-Maltase-Mangel, infantile Form |
| es | Enfermedad por almacenamiento de glucógeno por deficiencia de maltasa ácida de inicio en la lactancia | Deficiencia de alfa-1,4-glucosidasa ácida de inicio en la lactancia · Enfermedad de Pompe de inicio en la lactancia · Enfermedad de almacenamiento de glucógeno tipo 2 de inicio en la lactancia · Enfermedad de almacenamiento de glucógeno tipo II de inicio en la lactancia · GSD por deficiencia de maltasa ácida de inicio en la lactancia · GSD tipo 2 de inicio en la lactancia · GSD tipo II de inicio en la lactancia · Glucogenosis por deficiencia de maltasa ácida de inicio en la lactancia · Glucogenosis tipo 2 de inicio en la lactancia · Glucogenosis tipo II de inicio en la lactancia |
| it | Malattia da deposito di glicogeno da deficit di maltasi acida ad esordio infantile | Deficit di alfa-1,4-glucosidasi acida a esordio infantile · GSD da deficit di maltasi acida, a esordio infantile · GSD tipo 2, a esordio infantile · Glicogenosi da deficit di maltasi acida, a esordio infantile · Glicogenosi tipo 2, a esordio infantile · Malattia da deposito di glicogeno tipo 2, a esordio infantile · Malattia di Pompe a esordio infantile |
| nl | Glycogeenstapelingsziekte door zure-maltasedeficiëntie, infantiele aanvang | Glycogenose type 2, infantiele aanvang · Glycogenose type II, infantiele aanvang · Ziekte van Pompe, infantiele aanvang · Deficiëntie van zure alfa-1,4-glucosidase, infantiele aanvang · GSD door zure-maltasedeficiëntie, infantiele aanvang · GSD type 2, infantiele aanvang · GSD type II, infantiele aanvang · Glycogeenstapelingsziekte type 2, infantiele aanvang · Glycogeenstapelingsziekte type II, infantiele aanvang · Glycogenose door zure-maltasedeficiëntie, infantiele aanvang |
| pt | Doença de armazenamento de glicogénio por deficiência de maltase ácida, início na infância | Deficiência de alfa-1,4-glucosidase ácida, de início na infância · Doença de Pompe, início na infância · Doença de armazenamento do glicogénio tipo 2, início na infância · Doença de armazenamento do glicogénio tipo II, início na infância · GSD por deficiência de maltase ácida, início na infância · GSD tipo 2, início na infância · GSD tipo II, início na infância · Glicogenose por deficiência de maltase ácida, início na infância · Glicogenose tipo 2, início na infância · Glicogenose tipo II, início na infância |
| pl | Choroba spichrzania glikogenu z powodu niedoboru kwaśnej maltazy, o początku w wieku niemowlęcym | Choroba Pompego, o początku w wieku niemowlęcym · Choroba spichrzania glikogenu typu 2, o początku w wieku niemowlęcym · Glikogenoza typu 2, o początku w wieku niemowlęcym · Glikogenoza z powodu niedoboru kwaśnej maltazy, o początku w wieku niemowlęcym · GSD typu 2, o początku w wieku niemowlęcym · GSD z powodu niedoboru kwaśnej maltazy, o początku w wieku niemowlęcym · Niedobór kwaśnej alfa-1,4-glukozydazy, o początku w wieku niemowlęcym |
| cs | Glykogenóza způsobená deficitem kyselé maltázy, začátek v kojeneckém věku | Deficit kyselé alfa-1,4-glukosidázy, začátek v kojeneckém věku · GSD způsobená deficitem kyselé maltázy, začátek v kojeneckém věku · GSD typ 2, začátek v kojeneckém věku · GSD typ II, začátek v kojeneckém věku · Glykogenóza, typ 2, začátek v kojeneckém věku · Glykogenóza, typ II, začátek v kojeneckém věku · Pompeho choroba, začátek v kojeneckém věku |
| uk | Хвороба накопичення глікогену, зумовлена дефіцитом кислої мальтази, інфантильний початок | Дефіцит альфа-1,4-глюкозидазної кислоти, інфантильний початок · Глікогенова хвороба 2 типу, інфантильний початок · Глікогенова хвороба II типу, інфантильний початок · Глікогеноз внаслідок дефіциту кислої мальтази, початок у дитячому віці · Глікогеноз 2 типу, інфантильний початок · Глікогеноз II типу, інфантильний початок · GSD внаслідок дефіциту кислої мальтази, початок у дитячому віці · GSD типу 2, інфантильний початок · GSD II типу, початок у дитячому віці · Хвороба Помпе, інфантильний початок |
| zh | 婴儿起病的酸性麦芽糖酶缺乏致糖原贮积病 | 婴儿起病的酸性麦芽糖酶缺乏所致糖原贮积病 |
| tr | Asit maltaz eksikliğine bağlı glikojen depo hastalığı, infantil başlangıç | GSD tip 2, infantil başlangıçlı · GSD tip II, infantil başlangıçlı · Pompe hastalığı, infantil başlangıçlı · Glikojenoz tip 2, infantil başlangıçlı · Glikojenoz tip II, infantil başlangıçlı · Glikojen depo hastalığı tip 2, infantil başlangıçlı · glikojen depo hastalığı tip II, infantil başlangıçlı · Asit maltaz eksiklğine bağlı GSD, infantil başlangıçlı · Alfa-1,4-glukozidaz asit eksikliği, infantil başlangıçlı · Asit maltaz eksikliğine bağlı glikojenoz, infantil başlangıçlı |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 232300 | NTBT | validated | |
| ICD-10 | E74.0 | NTBT | attributed | validated |
| ICD-11 | 5C51.3 | NTBT | index | validated |
| MONDO | 0017694 | E | validated | |
| UMLS | C3888924 | 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:365Glycogen storage disease due to acid maltase deficiency
rare cardiac diseases; rare inborn errors of metabolism; rare genetic diseases; rare neurological 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 |
|---|---|---|---|---|---|---|---|---|
| GAA | Disease-causing germline mutation(s) in | Assessed | HGNC:4065 | ENSG00000171298 | 606800 | 17q25.3 | alpha glucosidase |
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Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Europe | Class only | Not yet validated | ORPHANET |
| Prevalence at birth | 1-9 / 100 000 | 3 / 100 000 | Taiwan, Province of China | Value and class | Validated | 18519449[PMID]_24243590[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.72 / 100 000 | Netherlands | Value and class | Validated | 10482961[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.
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HPO phenotypes
35 annotations · validated 2020-11-27| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0012379 | Abnormal enzyme/coenzyme activity | |
| HP:0001640 | Cardiomegaly | |
| HP:0025336 | Delayed ability to sit | |
| HP:0025335 | Delayed ability to stand | |
| HP:0031964 | Elevated circulating alanine aminotransferase concentration | |
| HP:0003236 | Elevated circulating creatine kinase concentration | |
| HP:0001508 | Failure to thrive | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0008947 | Floppy infant | |
| HP:0002240 | Hepatomegaly | |
| HP:0001639 | Hypertrophic cardiomyopathy | |
| HP:0025435 | Increased circulating lactate dehydrogenase concentration | |
| HP:0001712 | Left ventricular hypertrophy | |
| HP:0032092 | Left ventricular outflow tract obstruction | |
| HP:0040329 | Multifocal hyperintensity of cerebral white matter on MRI | |
| HP:0001324 | Muscle weakness | |
| HP:0010471 | Oligosacchariduria | |
| Frequent (79-30%) | ||
| HP:0001284 | Areflexia | |
| HP:0000297 | Facial hypotonia | |
| HP:0003324 | Generalized muscle weakness | |
| HP:0030148 | Heart murmur | |
| HP:0009805 | Low-output congestive heart failure | |
| HP:0000158 | Macroglossia | |
| HP:0001270 | Motor delay | |
| HP:0003701 | Proximal muscle weakness | |
| HP:0002098 | Respiratory distress | |
| HP:0002878 | Respiratory failure | |
| HP:0004887 | Respiratory failure requiring assisted ventilation | |
| HP:0002093 | Respiratory insufficiency | |
| HP:0002747 | Respiratory insufficiency due to muscle weakness | |
| HP:0011947 | Respiratory tract infection | |
| HP:0005165 | Shortened PR interval | |
| HP:0000183 | Tongue muscle weakness | |
| Occasional (29-5%) | ||
| HP:0000365 | Hearing impairment | |
| HP:0001249 | Intellectual disability | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 20301438[PMID]_30117059[PMID]_32518148[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/308552
- This record as JSON: /data/d/308552.json