ORPHA:420429
Glycogen storage disease due to acid maltase deficiency, late-onset
Synonyms: Alpha-1,4-glucosidase acid deficiency, late-onset · GSD due to acid maltase deficiency, late-onset · GSD type 2, late-onset · GSD type II, late-onset · Glycogen storage disease type 2, late-onset · Glycogen storage disease type II, late-onset · Glycogenosis type 2, late-onset · Glycogenosis type II, late-onset · Pompe disease, late-onset
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Adult
- Status
- active
A rare form of glycogen storage disease due to acid maltase deficiency characterized by excessive accumulation of glycogen in lysosomes most notably in skeletal muscle, leading to slowly progressive muscle weakness with walking disability and reduced respiratory function. The late-onset form includes all cases in which hypertrophic cardiomyopathy did not manifest or was not diagnosed at or under the age of 1 year, as well as all cases with symptom onset above the age of 1 year.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Glycogen storage disease due to acid maltase deficiency, late-onset | Alpha-1,4-glucosidase acid deficiency, late-onset · GSD due to acid maltase deficiency, late-onset · GSD type 2, late-onset · GSD type II, late-onset · Glycogen storage disease type 2, late-onset · Glycogen storage disease type II, late-onset · Glycogenosis type 2, late-onset · Glycogenosis type II, late-onset · Pompe disease, late-onset |
| fr | Glycogénose par déficit en maltase acide à début tardif | Déficit en alpha-1,4-glucosidase acide à début tardif · Glycogénose type 2 à début tardif · Glycogénose type II à début tardif · Maladie de Pompe à début tardif |
| de | Glykogenose durch Saure-Maltase-Mangel, spät beginnende Form | Alpha-1,4-Glukosidase-Mangel, spät beginnende Form · GSD Typ 2, spät beginnende Form · GSD Typ II, spät beginnende Form · GSD durch Saure-Maltase-Mangel, spät beginnende Form · Glykogen-Speicherkrankheit Typ 2, spät beginnende Form · Glykogen-Speicherkrankheit Typ II mit spätem Beginn · Glykogenose Typ 2, spät beginnende Form · Glykogenose Typ II mit spätem Beginn · Pompe-Krankheit, späte Form |
| es | Enfermedad de almacenamiento de glucógeno por deficiencia de maltasa ácida de inicio tardío | GSD por deficiencia de maltasa ácida de inicio tardío · GSD tipo 2 de inicio tardío · GSD tipo II de inicio tardío · Glucogenosis tipo 2 de inicio tardío · Glucogenosis tipo II de inicio tardío · Deficiencia de alfa-1,4-glucosidasa ácida de inicio tardío · Enfermedad de Pompe de inicio tardío · Enfermedad de almacenamiento de glucógeno tipo 2 de inicio tardío · Enfermedad de almacenamiento de glucógeno tipo II de inicio tardío |
| it | Malattia da deposito di glicogeno da deficit di maltasi acida, a esordio tardivo | Deficit di alfa-1,4-glucosidasi acida, a esordio tardivo · GSD da deficit di maltasi acida, a esordio tardivo · GSD tipo 2, a esordio tardivo · Glicogenosi tipo 2, a esordio tardivo · Malattia da deposito di glicogeno tipo 2, a esordio tardivo · Malattia di Pompe a esordio tardivo |
| nl | Glycogeenstapelingsziekte door zure-maltasedeficiëntie, late aanvang | Deficiëntie van zure alfa-1,4-glucosidase, late aanvang · GSD door zure-maltasedeficiëntie, late aanvang · GSD type 2, late aanvang · GSD type II, late aanvang · Glycogeenstapelingsziekte type 2, late aanvang · Glycogeenstapelingsziekte type II, late aanvang · Glycogenose type 2, late aanvang · Glycogenose type II, late aanvang · Ziekte van Pompe, late aanvang |
| pt | Doença de armazenamento de glicogénio por deficiência de maltase ácida, início tardio | GSD tipo 2, de início tardio · GSD tipo II, de início tardio · Glicogenose tipo 2, de início tardio · Glicogenose tipo II, de início tardio · Deficiência de alfa-1,4-glucosidase ácida, de início tardio · Doença de Pompe, de início tardio · Doença de armazenamento do glicogénio tipo 2, início tardio · Doença de armazenamento do glicogénio tipo II, início tardio · GSD por deficiência de maltase ácida, início tardio |
| pl | Choroba spichrzania glikogenu z powodu niedoboru kwaśnej maltazy, o późnym początku | GSD typu 2, o późnym początku · GSD typu II, o późnym początku · Choroba Pompego, o późnym początku · Glikogenoza typu 2, o późnym początku · Glikogenoza typu II, o późnym początku · Choroba spichrzania glikogenu typu 2, o późnym początku · Choroba spichrzania glikogenu typu II, o późnym początku · GSD z powodu niedoboru kwaśnej maltazy, o późnym początku · Niedobór kwaśnej alfa-1,4-glukozydazy, o późnym początku |
| cs | Glykogenóza způsobená deficitem kyselé maltázy, s pozdním nástupem | Deficit alfa-1,4-glukosidázy, s pozdním nástupem · GSD typ 2, s pozdním nástupem · GSD typ II, s pozdním nástupem · Glykogenóza, typ 2, s pozdním nástupem · Glykogenóza, typ II, s pozdním nástupem · Glykogenóza typu 2, s pozdním nástupem · Glykogenóza typu II, s pozdním nástupem · Pompeho choroba, s pozdním nástupem · GSD způsobená deficitem kyselé maltázy, s pozdním nástupem |
| uk | Хвороба накопичення глікогену, зумовлена дефіцитом кислої мальтази, пізній початок | Дефіцит альфа-1,4-глюкозидазної кислоти, пізній початок · Глікогенова хвороба 2 типу, пізній початок · Глікогенова хвороба II типу, пізній початок · Глікогеноз 2 типу, пізній початок · Глікогеноз II типу, пізній початок · GSD внаслідок дефіциту кислої мальтази, пізній початок · GSD типу 2, пізній початок · GSD II типу, пізній початок · Хвороба Помпе, пізній початок |
| zh | 迟发型酸性麦芽糖酶缺陷所致糖原贮积症 | 迟发型α-1,4-葡萄糖苷酶酸缺乏症 |
| tr | Asit maltaz eksikliğine bağlı glikojen depo hastalığı, geç başlangıçlı | Geç başlangıçlı, GSD tip 2 · Geç başlangıçlı, GSD tip II · Geç başlangıçlı, Pompe hastalığı · Geç başlangıçlı, Glikojenoz tip 2 · Geç başlangıçlı, Glikojenoz tip II · Geç başlangıçlı, Glikojen depo hastalığı tip 2 · Geç başlangıçlı, Glikojen depo hastalığı tip II · Geç başlangıçlı, Asit maltaz eksikliğine bağlı GSD · Geç başlangıçlı, Alfa-1,4-glukozidaz asit eksikliği |
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 | 0018485 | E | validated | |
| UMLS | C3888925 | 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.
Codes that Orphanet moved or referred to this one:
- ORPHA:308573OBSOLETE: Glycogen storage disease due to acid maltase deficiency, juvenile onset referred to · inactive
- ORPHA:308604OBSOLETE: Glycogen storage disease due to acid maltase deficiency, adult onset referred to · inactive
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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
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 1.75 / 100 000 | Worldwide | Value and class | Validated | 6789760[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
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/420429
- This record as JSON: /data/d/420429.json