ORPHA:371
Glycogen storage disease due to muscle phosphofructokinase deficiency
Synonyms: GSD due to muscle phosphofructokinase deficiency · GSD type 7 · GSD type VII · Glycogen storage disease type 7 · Glycogen storage disease type VII · Glycogenosis due to muscle phosphofructokinase deficiency · Glycogenosis type 7 · Glycogenosis type VII · Tarui disease
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Adult, Childhood, Infancy
- Status
- active
A rare form of glycogen storage disease (GSD) characterized classically by exertional fatigue and muscular exercise intolerance. It occurs typically in childhood and adolescence.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Glycogen storage disease due to muscle phosphofructokinase deficiency | GSD due to muscle phosphofructokinase deficiency · GSD type 7 · GSD type VII · Glycogen storage disease type 7 · Glycogen storage disease type VII · Glycogenosis due to muscle phosphofructokinase deficiency · Glycogenosis type 7 · Glycogenosis type VII · Tarui disease |
| fr | Glycogénose par déficit en phosphofructokinase musculaire | GSD par déficit en phosphofructokinase musculaire · GSD type 7 · GSD type VII · Glycogénose type 7 · Glycogénose type VII · Maladie de Tarui |
| de | Glykogenose Typ 7 | GSD Typ 7 · GSD Typ VII · GSD durch muskulären Phosphofructokinase-Mangel · Glykogen-Speicherkrankheit Typ 7 · Glykogen-Speicherkrankheit Typ VII · Glykogen-Speicherkrankheit durch muskulären Phosphofructokinase-Mangel · Glykogenose Typ VII · Glykogenose durch Phosphofruktokinase-Mangel des Muskels · Tarui-Krankheit |
| es | Enfermedad por almacenamiento de glucógeno por deficiencia de fosfofructoquinasa muscular | Glucogenosis por deficiencia de fosfofructoquinasa muscular · Glucogenosis tipo 7 · Glucogenosis tipo VII · Enfermedad de Tarui · Enfermedad de almacenamiento de glucógeno tipo 7 · Enfermedad de almacenamiento de glucógeno tipo VII · GSD por deficiencia de fosfofructoquinasa muscular · GSD tipo 7 · GSD tipo VII |
| it | Malattia da deposito di glicogeno da deficit di fosfofruttochinasi muscolare | GSD da deficit di fosfofruttochinasi muscolare · GSD, tipo 7 · Glicogenosi da deficit di fosfofruttochinasi muscolare · Glicogenosi, tipo 7 · Malattia da deposito di glicogeno, tipo 7 · Malattia di Tarui |
| nl | Glycogeenstapelingsziekte door deficiëntie van fosfofructokinase in spier | GSD door deficiëntie van fosfofructokinase in spier · GSD type 7 · GSD type VII · Glycogeenstapelingsziekte type 7 · Glycogeenstapelingsziekte type VII · Glycogenose door deficiëntie van fosfofructokinase in spier · Glycogenose type 7 · Glycogenose type VII · Ziekte van Tarui |
| pt | Doença de armazenamento de glicogénio devida a deficiência de fosfofrutocinase muscular | Deficiência de fosfofrutocinase muscular · Doença de Tarui · Doença de armazenamento de glicogénio tipo 7 · Glicogenose tipo 7 |
| pl | Choroba spichrzania glikogenu spowodowana niedoborem fosfofruktokinazy mięśniowej | Choroba spichrzania glikogenu typu 7 · Choroba Tarui'ego · Glikogenoza spowodowana niedoborem fosfofruktokinazy mięśniowej · Glikogenoza typu 7 · GSD spowodowana niedoborem fosfofruktokinazy mięśniowej · GSD typu 7 |
| cs | Glykogenóza způsobená deficitem svalové fosfofruktokinázy | GSD, typ 7 · GSD VII · Glykogenóza, typ 7 · Glykogenóza, typ VII · Taruiova choroba · GSD způsobená deficitem svalové fosfofruktokinázy |
| uk | Хвороба накопичення глікогену, зумовлена дефіцитом мязової фосфофруктокінази | Хвороба накопичення глікогену, тип 7 · Хвороба накопичення глікогену VII типу · Глікогеноз внаслідок дефіциту мязової фосфофруктокінази · Глікогеноз типу 7 · Глікогеноз VII типу · GSD внаслідок дефіциту мязової фосфофруктокінази · GSD тип 7 · GSD тип VII · Хвороба Таруї |
| zh | 肌磷酸果糖激酶缺乏所致糖原贮积病 | 肌磷酸果糖激酶缺乏所致糖原贮积病 |
| tr | Kas fosfosfruktokinaz eksikliğine bağlı glikojen depo hastalığı | GSD tip 7 · GSD tip VII · Tarui hastalığı · Glikojenoz tip 7 · Glikojenoz tip VII · Glikojen depo hastalığı tip 7 · Glikojen depo hastalığı tip VII · Kas fosfofruktokinaz eksikliğine bağlı GSD · Kas fosfofruktokinaz eksikliğine bağlı glikojenoz |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 232800 | E | validated | |
| ICD-10 | E74.0 | NTBT | inclusion | validated |
| ICD-11 | 5C51.3 | NTBT | index | validated |
| MONDO | 0009295 | E | validated | |
| MeSH | D006014 | E | validated | |
| UMLS | C0017926 | E | validated | |
| GARD | 5686 | E | validated | |
| MedDRA | 10053241 | 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 (3):
- 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 - ORPHA:206959Muscular glycogenosis
rare genetic diseases; rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PFKM | Disease-causing germline mutation(s) in | Assessed | HGNC:8877 | ENSG00000152556 | 610681 | 12q13.11 | phosphofructokinase, muscle |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 100 cases | Worldwide | Case(s) | Validated | 18421897[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_18421897[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
6 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001903 | Anemia | |
| HP:0009051 | Increased muscle glycogen content | |
| HP:0002486 | Myotonia | |
| Frequent (79-30%) | ||
| HP:0002149 | Hyperuricemia | |
| HP:0001324 | Muscle weakness | |
| HP:0003202 | Skeletal muscle atrophy | |
Run the differential on the 3 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/371
- This record as JSON: /data/d/371.json