ORPHA:713
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
Synonyms: GSD due to phosphoglycerate kinase 1 deficiency · Glycogenosis due to phosphoglycerate kinase 1 deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
A rare inborn errors of metabolism characterized by variable combinations of non-spherocytic hemolytic anemia, myopathy, and various central nervous system abnormalities.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Glycogen storage disease due to phosphoglycerate kinase 1 deficiency | GSD due to phosphoglycerate kinase 1 deficiency · Glycogenosis due to phosphoglycerate kinase 1 deficiency |
| fr | Glycogénose par déficit en phosphoglycérate kinase 1 | GSD par déficit en phosphoglycérate kinase |
| de | Glykogenose durch Phosphoglycerat-Kinase 1-Mangel | GSD durch Phosphoglycerat-Kinase 1-Mangel · Glykogen-Speicherkrankheit durch Phosphoglycerat-Kinase 1-Mangel |
| es | Enfermedad por almacenamiento de glucógeno por deficiencia de fosfoglicerato quinasa 1 | GSD por deficiencia de fosfoglicerato quinasa 1 · Glucogenosis por deficiencia de fosfoglicerato quinasa 1 |
| it | Malattia da accumulo di glicogeno da deficit di fosfoglicerato chinasi 1 | GSD da deficit di fosfoglicerato chinasi · Glicogenosi da deficit di fosfoglicerato chinasi |
| nl | Glycogeenstapelingsziekte door deficiëntie van fosfoglyceraatkinase 1 | GSD door deficiëntie van fosfoglyceraatkinase 1 · Glycogenose door deficiëntie van fosfoglyceraatkinase 1 |
| pt | Doença de armazenamento de glicogénio devida a deficiência de fosfoglicerato cinase 1 | Glicogenose devida a deficiência de fosfoglicerato cinase 1 |
| pl | Choroba spichrzania glikogenu spowodowana niedoborem kinazy fosfoglicerynianowej | Glikogenoza spowodowana niedoborem kinazy fosfoglicerynianowej 1 · GSD spowodowana niedoborem kinazy fosfoglicerynianowej 1 |
| cs | Glykogenóza způsobená deficitem fosfoglycerátkinázy | GSD způsobená deficitem fosfoglycerátkinázy |
| uk | Хвороба накопичення глікогену, зумовлена дефіцитом фосфогліцераткінази 1 | Глікогеноз внаслідок дефіциту фосфогліцераткінази 1 · GSD внаслідок дефіциту фосфогліцераткінази 1 |
| zh | 磷酸甘油酸激酶缺乏所致糖原贮积病 | 磷酸甘油酸酯激酶1缺乏所致糖原贮积病 |
| tr | Fosfogliserat kinaz 1 eksikliğine bağlı glikojen depo hastalığı | Fosfogliserat kinaz 1 eksikliğine bağlı GSD · Fosfogliserat kinaz 1 eksikliğine bağlı glikojenoz |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300653 | E | validated | |
| ICD-10 | E74.0 | NTBT | attributed | validated |
| ICD-11 | 5C51.3 | NTBT | index | validated |
| MONDO | 0010392 | E | validated | |
| UMLS | C5568976 | E | validated | |
| GARD | 7389 | 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 (5):
- 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 - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
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 |
|---|---|---|---|---|---|---|---|---|
| PGK1 | Disease-causing germline mutation(s) in | Assessed | HGNC:8896 | ENSG00000102144 | 311800 | Xq21.1 | phosphoglycerate kinase 1 | 1547346[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 30 families | Worldwide | Family(ies) | Validated | [EXPERT] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_[EXPERT] |
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 2019-04-10| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0012638 | Abnormality of nervous system physiology | Diagnostic criterion |
| HP:0001251 | Ataxia | |
| HP:0020062 | Decreased hemoglobin concentration | |
| HP:0000750 | Delayed speech and language development | |
| HP:0009020 | Exercise-induced muscle fatigue | |
| HP:0003738 | Exercise-induced myalgia | |
| HP:0001263 | Global developmental delay | |
| HP:0001878 | Hemolytic anemia | Diagnostic criterion |
| HP:0002904 | Hyperbilirubinemia | |
| HP:0001249 | Intellectual disability | |
| HP:0002076 | Migraine | |
| HP:0003394 | Muscle spasm | |
| HP:0001324 | Muscle weakness | |
| HP:0002913 | Myoglobinuria | Diagnostic criterion |
| HP:0003198 | Myopathy | Diagnostic criterion |
| HP:0001923 | Reticulocytosis | |
| HP:0003201 | Rhabdomyolysis | |
| HP:0001337 | Tremor | |
| Occasional (29-5%) | ||
| HP:0000083 | Renal insufficiency | |
| Very rare (<4-1%) | ||
| HP:0000618 | Blindness | |
| HP:0000556 | Retinal dystrophy | |
Annotation source: 4230542[PMID]_16567715[PMID]_16740138[PMID]_19157875[PMID]_5764452[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/713
- This record as JSON: /data/d/713.json