ORPHA:57
Glycogen storage disease due to aldolase A deficiency
Synonyms: GSD due to aldolase A deficiency · GSD type 12 · GSD type XII · Glycogen storage disease type 12 · Glycogen storage disease type XII · Glycogenosis due to aldolase A deficiency · Glycogenosis type 12 · Glycogenosis type XII
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
Glycogen storage disease due to aldolase A deficiency is an extremely rare glycogen storage disease characterized by hemolytic anemia with or without myopathy or intellectual deficit. Myopathy can be severe enough to result in fatal rhabdomyolysis in some patients. A family with episodic rhabdomyolysis (triggered by fever) without hemolytic anemia has recently been reported.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Glycogen storage disease due to aldolase A deficiency | GSD due to aldolase A deficiency · GSD type 12 · GSD type XII · Glycogen storage disease type 12 · Glycogen storage disease type XII · Glycogenosis due to aldolase A deficiency · Glycogenosis type 12 · Glycogenosis type XII |
| fr | Glycogénose par déficit en aldolase A musculaire | GSD par déficit en aldolase A musculaire · GSD type 12 · GSD type XII · Glycogénose type 12 · Glycogénose type XII |
| de | Glykogenose Typ 12 | GSD Typ 12 · GSD Typ XII · GSD durch Aldolase A-Mangel · Glykogen-Speicherkrankheit Typ 12 · Glykogen-Speicherkrankheit Typ XII · Glykogen-Speicherkrankheit durch Aldolase A-Mangel · Glykogenose Typ XII · Glykogenose durch Aldolase A-Mangel |
| es | Enfermedad por almacenamiento de glucógeno por deficiencia de aldolasa A | Glucogenosis tipo 12 · Glucogenosis tipo XII · Enfermedad de almacenamiento de glucógeno tipo 12 · Enfermedad de almacenamiento de glucógeno tipo XII · GSD por deficiencia de aldolasa A · GSD tipo 12 · GSD tipo XII · Glucogenosis por deficiencia de aldolasa A |
| it | Malattia da deposito di glicogeno da deficit di aldolasi A | GSD da deficit di aldolasi A · GSD, tipo 12 · Glicogenosi da deficit di aldolasi A · Glicogenosi, tipo 12 · Malattia da deposito di glicogeno, tipo 12 |
| nl | Glycogeenstapelingsziekte door deficiëntie van aldolase A | GSD door aldolase A-deficiëntie · GSD type 12 · GSD type XII · Glycogeenstapelingsziekte type 12 · Glycogeenstapelingsziekte type XII · Glycogenose door aldolase A-deficiëntie · Glycogenose type 12 · Glycogenose type XII |
| pt | Doença de armazenamento de glicogénio devida a deficiência de aldolase A | Doença de armazenamento de glicogénio tipo 12 · Doença de armazenamento de glicogénio tipo XII · GSD devida a deficiência de aldolase · GSD tipo 12 · GSD tipo XII · Glicogenose devida a deficiência de aldolase A · Glicogenose tipo 12 · Glicogenose tipo XII |
| pl | Choroba spichrzania glikogenu spowodowana niedoborem aldolazy A | Choroba spichrzania glikogenu typu 12 · Glikogenoza typu 12 · Glikogenoza z powodu niedoboru aldolazy A · GSD typu 12 · GSD z powodu niedoboru aldolazy A |
| cs | Glykogenóza způsobená deficitem aldolázy A | GSD typ 12 · GSD typ XII · Glykogenóza, typ 12 · Glykogenóza, typ XII · GSD způsobená deficitem aldolázy A |
| uk | Хвороба накопичення глікогену, зумовлена дефіцитом альдолази А | Хвороба накопичення глікогену, тип 12 · Хвороба накопичення глікогену, тип XII · Глікогеноз внаслідок дефіциту альдолази А · Глікогеноз 12 типу · Глікогеноз XII типу · GSD внаслідок дефіциту альдолази А · GSD тип 12 · GSD тип XII |
| zh | 醛缩酶A缺乏所致糖原贮积病 | 醛缩酶A缺乏所致糖原贮积病 |
| tr | Aldolaz A eksikliğine bağlı glikojen depo hastalığı | GSD tip 12 · GSD tipi XII · Glikojenoz tip 12 · Glikojenoz tip XII · Aldolaz A eksikliğine bağlı GSD · Glikojen depo hastalığı tip 12 · Glikojen depo hastalığı tip XII · Aldolaz A eksikliğine bağlı glikojenoz |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 611881 | E | validated | |
| ICD-10 | E74.0 | NTBT | attributed | validated |
| ICD-11 | 5C51.3 | NTBT | index | validated |
| MONDO | 0012747 | E | validated | |
| MeSH | C562718 | E | validated | |
| UMLS | C0272066 | E | validated | |
| GARD | 600 | 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 (2):
- ORPHA:79201Glycogen storage disease
rare inborn errors of metabolism; rare genetic diseases - ORPHA:98372Hemolytic anemia due to a disorder of glycolytic enzymes
rare genetic diseases; rare hematological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ALDOA | Disease-causing germline mutation(s) in | Assessed | HGNC:414 | ENSG00000149925 | 103850 | 16p11.2 | aldolase, fructose-bisphosphate A |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| 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.
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HPO phenotypes
21 annotations · validated 2021-06-30| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001945 | Fever | |
| HP:0012545 | Reduced aldolase level | |
| Frequent (79-30%) | ||
| HP:0003458 | EMG: myopathic abnormalities | |
| HP:0008331 | Elevated creatine kinase after exercise | |
| HP:0009045 | Exercise-induced rhabdomyolysis | |
| HP:0001878 | Hemolytic anemia | |
| HP:0100295 | Muscle fiber atrophy | |
| HP:0001324 | Muscle weakness | |
| HP:0003326 | Myalgia | |
| HP:0003756 | Skeletal myopathy | |
| HP:0003558 | Viral infection-induced rhabdomyolysis | |
| Occasional (29-5%) | ||
| HP:0001919 | Acute kidney injury | |
| HP:0011675 | Arrhythmia | |
| HP:0003199 | Decreased muscle mass | |
| HP:0000750 | Delayed speech and language development | |
| HP:0001510 | Growth delay | |
| HP:0002153 | Hyperkalemia | |
| HP:0001249 | Intellectual disability | |
| HP:0001270 | Motor delay | |
| HP:0002913 | Myoglobinuria | |
| HP:0001328 | Specific learning disability | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 25778939[PMID]_14615364[PMID]_33665120[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/57
- This record as JSON: /data/d/57.json