ORPHA:264580
Glycogen storage disease due to liver phosphorylase kinase deficiency
Synonyms: GSD due to liver phosphorylase kinase deficiency · GSD type 9A · GSD type 9C · GSD type IXa · GSD type IXc · Glycogen storage disease type 9A · Glycogen storage disease type 9C · Glycogen storage disease type IXa · Glycogen storage disease type IXc · Glycogenosis due to liver phosphorylase kinase deficiency · Glycogenosis type 9A · Glycogenosis type 9C · Glycogenosis type IXa · Glycogenosis type IXc · XLG
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive, X-linked recessive
- Age of onset
- Childhood
- Status
- active
Glycogen storage disease (GSD) due to liver phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism characterized by hepatomegaly, growth retardation, and mild delay in motor development during childhood.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Glycogen storage disease due to liver phosphorylase kinase deficiency | GSD due to liver phosphorylase kinase deficiency · GSD type 9A · GSD type 9C · GSD type IXa · GSD type IXc · Glycogen storage disease type 9A · Glycogen storage disease type 9C · Glycogen storage disease type IXa · Glycogen storage disease type IXc · Glycogenosis due to liver phosphorylase kinase deficiency · Glycogenosis type 9A · Glycogenosis type 9C · Glycogenosis type IXa · Glycogenosis type IXc · XLG |
| fr | Glycogénose par déficit en phosphorylase kinase hépatique | GSD par déficit en phosphorylase kinase hépatique · GSD type 9A · GSD type 9C · GSD type IXa · GSD type IXc · Glycogénose type 9A · Glycogénose type 9C · Glycogénose type IXa · Glycogénose type IXc · XLG |
| de | Glykogenose durch Leberphosphorylasekinasemangel | GSD Typ 9A · GSD Typ 9C · GSD Typ IXc · GSD durch Leberphosphorylasekinasemangel · GSD type IXa · Glykogen-Speicherkrankheit Typ 9A · Glykogen-Speicherkrankheit Typ 9C · Glykogen-Speicherkrankheit Typ IXa · Glykogen-Speicherkrankheit Typ IXc · Glykogenose Typ 9A · Glykogenose Typ 9C · Glykogenose Typ IXa · Glykogenose Typ IXc · XLG |
| es | Enfermedad por almacenamiento de glucógeno por deficiencia de fosforilasa quinasa hepática | Enfermedad de almacenamiento de glucógeno tipo 9A · Enfermedad de almacenamiento de glucógeno tipo 9C · Enfermedad de almacenamiento de glucógeno tipo IXa · Enfermedad de almacenamiento de glucógeno tipo IXc · GSD por deficiencia de fosforilasa quinasa hepática · GSD tipo 9A · GSD tipo 9C · GSD tipo IXa · GSD tipo IXc · Glucogenosis por deficiencia de fosforilasa quinasa hepática · Glucogenosis tipo 9A · Glucogenosis tipo 9C · Glucogenosis tipo IXa · Glucogenosis tipo IXc · XLG |
| it | Glicogenosi da deficit di fosforilasi chinasi epatica | GSD da deficit di fosforilasi-chinasi epatica · GSD, tipo 9A · GSD, tipo 9C · GSD, tipo IXa · GSD, tipo IXc · Glicogenosi, tipo 9A · Glicogenosi, tipo 9C · Glicogenosi, tipo IXa · Glicogenosi, tipo IXc · Malattia da deposito di glicogeno da deficit di fosforilasi chinasi epatica · Malattia da deposito di glicogeno, tipo 9C · Malattia da deposito di glicogeno, tipo IXa · Malattia da deposito di glicogeno, tipo IXc · Malattia da deposito di glicogeno, tipo 9A · XLG |
| nl | Glycogeenstapelingsziekte door deficiëntie van fosforylasekinase in lever | GSD door deficiëntie van fosforylasekinase in lever · GSD type 9A · GSD type 9C · GSD type IXa · GSD type IXc · Glycogeenstapelingsziekte type 9A · Glycogeenstapelingsziekte type 9C · Glycogeenstapelingsziekte type IXa · Glycogeenstapelingsziekte type IXc · Glycogenose door deficiëntie van fosforylasekinase in lever · Glycogenose type 9A · Glycogenose type 9C · Glycogenose type IXa · Glycogenose type IXc · XLG |
| pt | Doença de armazenamento de glicogénio por deficiência de fosforilase-cinase hepática | Glicogenose tipo 9A · Glicogenose tipo 9C |
| pl | Choroba spichrzania glikogenu z powodu niedoboru kinazy fosforylazy wątrobowej | Choroba spichrzania glikogenu typu 9A · Choroba spichrzania glikogenu typu 9C · Choroba spichrzania glikogenu typu IXa · Choroba spichrzania glikogenu typu IXc · Glikogenoza typu 9A · Glikogenoza typu 9C · Glikogenoza typu IXa · Glikogenoza typu IXc · Glikogenoza z powodu niedoboru kinazy fosforylazy wątrobowej · GSD typu 9A · GSD typu 9C · GSD typu IXa · GSD typu IXc · GSD z powodu niedoboru kinazy fosforylazy wątrobowej · XLG |
| cs | Glykogenóza způsobená deficitem jaterní fosforyláza-kinázy | GSD typ 9A · GSD typ 9C · GSD typ IXa · GSD typ IXc · Glykogenóza, typ 9C · Glykogenóza, typ IXA · Glykogenóza, typ IXC · Glykogenóza, typ 9A · XLG · GSD způsobená deficitem jaterní fosforyláza-kinázy |
| uk | Хвороба накопичення глікогену, зумовлена дефіцитом печінкової фосфорилазної кінази | Хвороба накопичення глікогену, тип 9А · Хвороба накопичення глікогену, тип 9C · Глікогенова хвороба, тип IXa · Глікогенова хвороба, тип IXc · Глікогеноз внаслідок дефіциту печінкової фосфорилазокінази · Глікогеноз типу 9А · Глікогеноз типу 9С · Глікогеноз типу IXa · Глікогеноз типу IXc · ГСД внаслідок дефіциту печінкової фосфорилазної кінази · GSD тип 9A · GSD тип 9C · GSD типу IXa · GSD типу IXc · XLG |
| zh | 肝磷酸化酶激酶缺乏所致糖原贮积症 | 肝磷酸化酶激酶缺乏所致糖原累积病 |
| tr | Karaciğer fosforilaz kinaz eksikliğine bağlı glikojen depo hastalığı | XLG · GSD tip 9A · GSD tip 9C · GSD tipIXa · GSD tip IXc · Glikojenez tip 9A · Glikojenez tip 9C · Glikojenez tip IXa · Glikojenez tip IXc · Glikojen depo hastalığı tip 9A · Glikojen depo hastalığı tip 9C · Glikojen depo hastalığı tip IXa · Glikojen depo hastalığı tip IXc · Karaciğer fosforilaz kinaz eksikliğine bağlı GSD · Karaciğer fosforilaz kinaz eksikliğine bağlı glikojenez |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 306000 | BTNT | validated | |
| OMIM | 613027 | BTNT | validated | |
| ICD-10 | E74.0 | NTBT | attributed | validated |
| ICD-11 | 5C51.3 | NTBT | index | validated |
| MONDO | 0020693 | E | validated | |
| UMLS | C3694529 | 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:370Glycogen storage disease due to phosphorylase kinase deficiency
rare inborn errors of metabolism; rare genetic diseases - ORPHA:101940Rare metabolic liver disease
rare genetic diseases; rare hepatic diseases
No children.
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Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PHKA2 | Disease-causing germline mutation(s) in | Assessed | HGNC:8926 | ENSG00000044446 | 300798 | Xp22.13 | phosphorylase kinase regulatory subunit alpha 2 | |
| PHKG2 | Disease-causing germline mutation(s) in | Assessed | HGNC:8931 | ENSG00000156873 | 172471 | 16p11.2 | phosphorylase kinase catalytic subunit gamma 2 |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 1 / 100 000 | Europe | Value and class | Validated | [EXPERT] |
| Point prevalence | Unknown | — | Worldwide | Class only | 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
51 annotations · validated 2021-01-18| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0012379 | Abnormal enzyme/coenzyme activity | |
| HP:0030272 | Abnormal erythrocyte enzyme activity | |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0002240 | Hepatomegaly | |
| Frequent (79-30%) | ||
| HP:0003162 | Fasting hypoglycemia | |
| HP:0001510 | Growth delay | |
| HP:0001395 | Hepatic fibrosis | |
| HP:0003124 | Hypercholesterolemia | |
| HP:0410175 | Hyperketonemia | |
| HP:0002155 | Hypertriglyceridemia | |
| HP:0001943 | Hypoglycemia | |
| HP:0001946 | Ketosis | |
| Occasional (29-5%) | ||
| HP:0001396 | Cholestasis | |
| HP:0002194 | Delayed gross motor development | |
| HP:0000823 | Delayed puberty | |
| HP:0100607 | Dysmenorrhea | |
| HP:0003236 | Elevated circulating creatine kinase concentration | |
| HP:0003546 | Exercise intolerance | |
| HP:0001508 | Failure to thrive | |
| HP:0012378 | Fatigue | |
| HP:0001263 | Global developmental delay | |
| HP:0001397 | Hepatic steatosis | |
| HP:0030232 | Increased sarcoplasmic glycogen | |
| HP:0001249 | Intellectual disability | |
| HP:0000858 | Irregular menstruation | |
| HP:0003394 | Muscle spasm | |
| HP:0003326 | Myalgia | |
| HP:0002913 | Myoglobinuria | |
| HP:0000876 | Oligomenorrhea | |
| HP:0000147 | Polycystic ovaries | |
| HP:0003323 | Progressive muscle weakness | |
| HP:0002719 | Recurrent infections | |
| HP:0004322 | Short stature | |
| HP:0003202 | Skeletal muscle atrophy | |
| HP:0002360 | Sleep abnormality | |
| Very rare (<4-1%) | ||
| HP:0001903 | Anemia | |
| HP:0001638 | Cardiomyopathy | |
| HP:0001394 | Cirrhosis | |
| HP:0000750 | Delayed speech and language development | |
| HP:0002014 | Diarrhea | |
| HP:0002040 | Esophageal varix | |
| HP:0012028 | Hepatocellular adenoma | |
| HP:0001252 | Hypotonia | |
| HP:0004324 | Increased body weight | |
| HP:0003128 | Lactic acidosis | |
| HP:0002018 | Nausea | |
| HP:0000939 | Osteoporosis | |
| HP:0006580 | Portal fibrosis | |
| HP:0001947 | Renal tubular acidosis | |
| HP:0001744 | Splenomegaly | |
| HP:0002013 | Vomiting | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 29360628[PMID]_28627441[PMID]_25266922[PMID]_17689125[PMID]_33317799[PMID]_21634085[PMID]_30659246[PMID]_25266922[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/264580
- This record as JSON: /data/d/264580.json