ORPHA:365
Glycogen storage disease due to acid maltase deficiency
Synonyms: Alpha-1,4-glucosidase acid deficiency · GSD due to acid maltase deficiency · GSD type 2 · GSD type II · Glycogen storage disease type 2 · Glycogen storage disease type II · Glycogenosis due to acid maltase deficiency · Glycogenosis type 2 · Glycogenosis type II · Pompe disease
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Adult, Antenatal, Childhood, Infancy, Neonatal
- Status
- active
A rare lysosomal storage disease characterized by lysosomal accumulation of glycogen particularly in skeletal, cardiac, and respiratory muscles, as well as the liver and nervous system, due to acid maltase deficiency. The clinical spectrum comprises infantile-onset disease with severe hypertrophic cardiomyopathy, generalized muscle weakness, poor feeding and failure to thrive, and respiratory insufficiency, and late-onset disease manifesting before or after twelve months of age without cardiomyopathy, with proximal muscle weakness and respiratory insufficiency.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Glycogen storage disease due to acid maltase deficiency | Alpha-1,4-glucosidase acid deficiency · GSD due to acid maltase deficiency · GSD type 2 · GSD type II · Glycogen storage disease type 2 · Glycogen storage disease type II · Glycogenosis due to acid maltase deficiency · Glycogenosis type 2 · Glycogenosis type II · Pompe disease |
| fr | Glycogénose par déficit en maltase acide | Déficit en alpha-1,4-glucosidase acide · GSD type II · Glycogénose type 2 · Glycogénose type II · Maladie de Pompe |
| de | Glykogenose Typ 2 | Alpha-1,4-Glukosidase-Mangel · GSD Typ 2 · GSD Typ II · GSD durch Saure-Maltase-Mangel · Glykogen-Speicherkrankheit Typ 2 · Glykogen-Speicherkrankheit Typ II · Glykogen-Speicherkrankheit durch Saure-Maltase-Mangel · Glykogenose Typ II · Glykogenose durch Saure-Maltase-Mangel · Pompe-Krankheit |
| es | Enfermedad por almacenamiento de glucógeno por deficiencia de maltasa ácida | Deficiencia de alfa-1,4-glucosidasa ácida · Enfermedad de Pompe · Enfermedad de almacenamiento de glucógeno tipo 2 · Enfermedad de almacenamiento de glucógeno tipo II · GSD por deficiencia de maltasa ácida · GSD tipo 2 · GSD tipo II · Glucogenosis por deficiencia de maltasa ácida · Glucogenosis tipo 2 · Glucogenosis tipo II |
| it | Malattia da deposito di glicogeno da deficit di maltasi acida | Deficit di alfa-1,4-glucosidasi acida · GSD da deficit di maltasi acida · GSD, tipo 2 · Glicogenosi, tipo 2 · Malattia da deposito di glicogeno, tipo 2 · Malattia di Pompe |
| nl | Glycogeenstapelingsziekte door zure-maltasedeficiëntie | Deficiëntie van zure alfa-1,4-glucosidase · GSD door zure-maltasedeficiëntie · GSD type 2 · GSD type II · Glycogeenstapelingsziekte type 2 · Glycogeenstapelingsziekte type II · Glycogenose door zure-maltasedeficiëntie · Glycogenose type 2 · Glycogenose type II · Ziekte van Pompe |
| pt | Doença de armazenamento de glicogénio por deficiência de maltase ácida | Deficiência de alfa-1,4-glucosidase ácida · Deficiência de maltase ácida · Doença de Pompe · Doença de armazenamento de glicogénio tipo 2 · GSD tipo 2 · GSD tipo II · Glicogenose por deficiência de maltase ácida · Glicogenose tipo 2 · Glicogenose tipo II |
| pl | Choroba spichrzania glikogenu spowodowana niedoborem kwaśnej maltazy | Niedobór kwaśnej alfa-1,4-glukozydazy · Choroba Pompego · Choroba spichrzania glikogenu typu 2 · Glikogenoza spowodowana niedoborem kwaśnej maltazy · Glikogenoza typu 2 · GSD spowodowana niedoborem kwaśnej maltazy · GSD typu 2 |
| cs | Glykogenóza způsobená deficitem kyselé maltázy | Deficit lysosomální alfa-1,4-glukosidázy · GSD typ 2 · GSD II · Glykogenóza, typ 2 · Glykogenóza, typ II · Glykogenóza II. typu · Pompeho choroba · Deficit kyselé maltázy · GSD způsobená deficitem kyselé maltázy |
| uk | Хвороба накопичення глікогену, зумовлена дефіцитом кислої мальтази | Дефіцит кислої альфа-1,4-глюкозидазної · Глікогенова хвороба 2-го типу · Хвороба накопичення глікогену II типу · Глікогеноз внаслідок дефіциту кислої мальтази · Глікогеноз 2 типу · Глікогеноз II типу · GSD внаслідок дефіциту кислої мальтази · GSD тип 2 · GSD тип II · Хвороба Помпе |
| zh | 酸性麦芽糖酶缺乏所致糖原贮积病 | α-1，4-葡糖苷酶缺乏症 |
| tr | Asit maltaz eksikliğine bağlı glikojen depo hastalığı | GSD tip 2 · GSD tip II · Pompe hastalığı · Glikojenoz tip 2 · Glikojenoz tip II · Glikojen depo hastalığı tip 2 · Glikojen depo hastalığı tip II · Asit maltaz eksikliğine bağlı GSD · Alfa-1,4-glukozidaz asit eksikliği · Asit maltaz eksikliğine bağlı glikojenoz |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 232300 | E | validated | |
| ICD-10 | E74.0 | NTBT | inclusion | validated |
| ICD-11 | 5C51.3 | NTBT | index | validated |
| MONDO | 0009290 | E | validated | |
| MeSH | D006009 | E | validated | |
| UMLS | C0017921 | E | validated | |
| GARD | 5714 | E | validated | |
| MedDRA | 10053185 | 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 (6):
- 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:217581Lysosomal disease with hypertrophic cardiomyopathy
rare cardiac diseases; rare genetic diseases; rare transplant-related disorders - ORPHA:217638Lysosomal disease with restrictive cardiomyopathy
rare cardiac diseases; rare genetic diseases; rare transplant-related disorders - ORPHA:309337Lysosomal glycogen storage disease
rare inborn errors of metabolism; rare genetic diseases - ORPHA:206959Muscular glycogenosis
rare genetic diseases; rare neurological diseases
4
Genes
0 direct · 2 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| GAA | ORPHA:308552Glycogen storage disease due to acid maltase deficiency, infantile onset | Disease-causing germline mutation(s) in | Assessed | HGNC:4065 | ENSG00000171298 | 606800 | 17q25.3 | alpha glucosidase | |
| GAA | ORPHA:420429Glycogen storage disease due to acid maltase deficiency, late-onset | Disease-causing germline mutation(s) in | Assessed | HGNC:4065 | ENSG00000171298 | 606800 | 17q25.3 | alpha glucosidase |
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Prevalence and incidence
14 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.8 / 100 000 | Europe | Value and class | Not yet validated | ORPHANET |
| Prevalence at birth | 1-9 / 1 000 000 | 0.17 / 100 000 | Portugal | Value and class | Validated | 14685153[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.83 / 100 000 | Italy | Value and class | Validated | 11953730[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 2.25 / 100 000 | Netherlands | Value and class | Validated | 10480370[PMID]_10482961[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.37 / 100 000 | Czech Republic | Value and class | Validated | 20490927[PMID] |
| Prevalence at birth | 1-5 / 10 000 | 11.5 / 100 000 | Austria | Value and class | Validated | 22133539[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 2.5 / 100 000 | United States | Value and class | Validated | 9738873[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.68 / 100 000 | Australia | Value and class | Validated | 9918480[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 2 / 100 000 | China | Value and class | Validated | 3106710[PMID] |
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
| Prevalence at birth | 1-9 / 1 000 000 | 0.72 / 100 000 | Sweden | Value and class | Validated | 25274184[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 2.3 / 100 000 | Israel | Value and class | Validated | 33239050[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 4.8 / 100 000 | Specific population | Value and class | Validated | 33239050[PMID] |
| Point prevalence | 1-9 / 100 000 | 3 / 100 000 | Europe | Value and class | Validated | European Medicines Agency 2018[OTHER] |
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
72 annotations · validated 2024-03-19| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0034932 | Decreased circulating acid maltase activity | |
| HP:0001324 | Muscle weakness | |
| HP:0010471 | Oligosacchariduria | |
| HP:0009073 | Progressive proximal muscle weakness | |
| Frequent (79-30%) | ||
| HP:0001284 | Areflexia | |
| HP:0100595 | Camptocormia | |
| HP:0001640 | Cardiomegaly | |
| HP:0000750 | Delayed speech and language development | |
| HP:0003551 | Difficulty climbing stairs | |
| HP:0003458 | EMG: myopathic abnormalities | |
| HP:0031964 | Elevated circulating alanine aminotransferase concentration | |
| HP:0003236 | Elevated circulating creatine kinase concentration | |
| HP:0003546 | Exercise intolerance | |
| HP:0002875 | Exertional dyspnea | |
| HP:0001508 | Failure to thrive | |
| HP:0012378 | Fatigue | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0001288 | Gait disturbance | |
| HP:0030231 | Glycogen accumulation in muscle fiber lysosomes | |
| HP:0003391 | Gowers sign | |
| HP:0001510 | Growth delay | |
| HP:0030148 | Heart murmur | |
| HP:0002240 | Hepatomegaly | |
| HP:0000338 | Hypomimic face | |
| HP:0001265 | Hyporeflexia | |
| HP:0025435 | Increased circulating lactate dehydrogenase concentration | |
| HP:0001712 | Left ventricular hypertrophy | |
| HP:0007340 | Lower limb muscle weakness | |
| HP:0001270 | Motor delay | |
| HP:0003326 | Myalgia | |
| HP:0002205 | Recurrent respiratory infections | |
| HP:0002093 | Respiratory insufficiency | |
| HP:0002747 | Respiratory insufficiency due to muscle weakness | |
| HP:0011947 | Respiratory tract infection | |
| HP:0001308 | Tongue fasciculations | |
| Occasional (29-5%) | ||
| HP:3000062 | Abnormal internal carotid artery morphology | |
| HP:0031310 | Basilar artery calcification | |
| HP:0012532 | Chronic pain | |
| HP:0006824 | Cranial nerve paralysis | |
| HP:0009113 | Diaphragmatic weakness | |
| HP:0004944 | Dilatation of the cerebral artery | |
| HP:0001260 | Dysarthria | |
| HP:0002015 | Dysphagia | |
| HP:0000297 | Facial hypotonia | |
| HP:0030196 | Fatigable weakness of respiratory muscles | |
| HP:0030195 | Fatigable weakness of swallowing muscles | |
| HP:0008947 | Floppy infant | |
| HP:0003324 | Generalized muscle weakness | |
| HP:0000365 | Hearing impairment | |
| HP:0003307 | Hyperlordosis | |
| HP:0001639 | Hypertrophic cardiomyopathy | |
| HP:0005216 | Impaired mastication | |
| HP:0002540 | Inability to walk | |
| HP:0032092 | Left ventricular outflow tract obstruction | |
| HP:0000158 | Macroglossia | |
| HP:0012764 | Orthopnea | |
| HP:0000939 | Osteoporosis | |
| HP:0000508 | Ptosis | |
| HP:0002098 | Respiratory distress | |
| HP:0002878 | Respiratory failure | |
| HP:0002650 | Scoliosis | |
| HP:0005165 | Shortened PR interval | |
| HP:0010535 | Sleep apnea | |
| HP:0012727 | Thoracic aortic aneurysm | |
| HP:0000183 | Tongue muscle weakness | |
| HP:0002326 | Transient ischemic attack | |
| HP:0002633 | Vasculitis | |
| Very rare (<4-1%) | ||
| HP:0100750 | Atelectasis | |
| HP:0002607 | Bowel incontinence | |
| HP:0100543 | Cognitive impairment | |
| HP:0001371 | Flexion contracture | |
| HP:0007002 | Motor axonal neuropathy | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 20301438[PMID]_33458579[PMID]_34156025[PMID]_17190962[PMID]_30117059[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/365
- This record as JSON: /data/d/365.json