ORPHA:79240
Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency
Synonyms: GSD due to liver and muscle phosphorylase kinase deficiency · GSD type 9B · GSD type IXb · Glycogen storage disease type 9B · Glycogen storage disease type IXb · Glycogenosis due to liver and muscle phosphorylase kinase deficiency · Glycogenosis type 9B · Glycogenosis type IXb
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
A benign inborn error of glycogen metabolism. It is the mildest form of GSD due to PhK deficiency.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency | GSD due to liver and muscle phosphorylase kinase deficiency · GSD type 9B · GSD type IXb · Glycogen storage disease type 9B · Glycogen storage disease type IXb · Glycogenosis due to liver and muscle phosphorylase kinase deficiency · Glycogenosis type 9B · Glycogenosis type IXb |
| fr | Glycogénose par déficit en phosphorylase kinase hépatique et musculaire | GSD par déficit en phosphorylase kinase hépatique et musculaire · GSD type 9B · GSD type IXb · Glycogénose type 9B · Glycogénose type IXb |
| de | Glykogenose durch Leber- und Muskel-Phosphorylasekinase-Mangel | GSD Typ 9B · GSD Typ IXb · GSD durch Leber- und Muskel-PhK-Mangel · Glykogen-Speicherkrankheit durch Leber- und Muskel-Phosphorylasekinase-Mangel · Glykogenose Typ 9B |
| es | Enfermedad por almacenamiento de glucógeno por deficiencia de fosforilasa quinasa hepática y muscular | Enfermedad de almacenamiento de glucógeno tipo 9B · Enfermedad de almacenamiento de glucógeno tipo IXb · GSD por deficiencia de fosforilasa quinasa hepática y muscular · GSD tipo 9B · GSD tipo Ixb · Glucogenosis por deficiencia de fosforilasa quinasa hepática y muscular · Glucogenosis tipo 9B · Glucogenosis tipo IXb |
| it | Glicogenosi da deficit di fosforilasi chinasi epatica e muscolare | GSD da deficit di fosforilasi chinasi epatica e muscolare · GSD, tipo 9B · GSD, tipo IXb · Glicogenosi, tipo 9B · Glicogenosi, tipo IXb · Malattia da deposito di glicogeno da deficit di fosforilasi chinasi epatica e muscolare · Malattia da deposito di glicogeno, tipo 9B · Malattia da deposito di glicogeno, tipo IXb |
| nl | Glycogeenstapelingsziekte door fosforylasekinasedeficiëntie in lever en spier | GSD door fosforylasekinasedeficiëntie in lever en spier · GSD type 9B · GSD type IXb · Glycogeenstapelingsziekte type 9B · Glycogeenstapelingsziekte type IXb · Glycogenose door fosforylasekinasedeficiëntie in lever en spier · Glycogenose type 9B · Glycogenose type IXb |
| pt | Doença de armazenamento de glicogénio devida a deficiência em miofosforilase quinase | Doença de armazenamento de glicogénio tipo 9B · Glicogenose tipo 9B |
| pl | Choroba spichrzania glikogenu z powodu niedoboru kinazy fosforylazy wątrobowej i mięśniowej | Choroba spichrzania glikogenu typu 9B · Choroba spichrzania glikogenu typu IXb · Glikogenoza typu 9B · Glikogenoza typu IXb · Glikogenoza z powodu niedoboru kinazy fosforylazy wątrobowej i mięśniowej · GSD typu 9B · GSD typu IXb · GSD z powodu niedoboru kinazy fosforylazy wątrobowej i mięśniowej |
| cs | Glykogenóza způsobená deficitem jaterní a svalové fosforylázakinázy | GSD typ 9B · GSD typ IXb · Glykogenóza, typ 9B · Glykogenóza, typ IXb · Glykogenóza typ, IXb · GSD způsobená deficitem jaterní a svalové fosforylázakinázy |
| uk | Хвороба накопичення глікогену, зумовлена дефіцитом фосфорилазної кінази печінки та мязів | Хвороба накопичення глікогену, тип 9B · Глікогенова хвороба, тип IXb · Глікогеноз внаслідок дефіциту фосфорилазної кінази печінки та мязів · Глікогеноз типу 9B · Глікогеноз типу IXb · GSD внаслідок дефіциту печінкової та мязової фосфорилазної кінази · GSD тип 9B · GSD типу IXb |
| zh | 肝和肌肉磷酸化激酶缺乏所致糖原贮积症 | 肝和肌肉磷酸化激酶缺乏所致糖原病 |
| tr | Karaciğer ve kas fosforilaz kinaz eksikliğine bağlı glikojen depo hastalığı | GSD tipi 9B · GSD tipi IXb · Glikojenoz tip 9B · Glikojenoz tip IXb · Glikojen depo hastalığı tip 9B · Glikojen depo hastalığı tip IXb · Karaciğer ve kas fosforilaz kinaz eksikliğine bağlı GSD · Karaciğer ve kas fosforilaz kinaz eksikliğine bağlı glikojenoz |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 261750 | E | validated | |
| ICD-10 | E74.0 | NTBT | attributed | validated |
| ICD-11 | 5C51.3 | NTBT | index | validated |
| MONDO | 0009868 | E | validated | |
| MeSH | C563008 | E | validated | |
| UMLS | C0543514 | 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:370Glycogen storage disease due to phosphorylase kinase deficiency
rare inborn errors of metabolism; rare genetic diseases - ORPHA:206959Muscular glycogenosis
rare genetic diseases; rare neurological diseases - ORPHA:101940Rare metabolic liver disease
rare genetic diseases; rare hepatic diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PHKB | Disease-causing germline mutation(s) in | Assessed | HGNC:8927 | ENSG00000102893 | 172490 | 16q12.1 | phosphorylase kinase regulatory subunit beta |
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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.
6
HPO phenotypes
43 annotations · validated 2021-10-05| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0012379 | Abnormal enzyme/coenzyme activity | |
| HP:0002240 | Hepatomegaly | |
| HP:0002155 | Hypertriglyceridemia | |
| HP:0008897 | Postnatal growth retardation | |
| Frequent (79-30%) | ||
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0003162 | Fasting hypoglycemia | |
| HP:0001395 | Hepatic fibrosis | |
| HP:0003124 | Hypercholesterolemia | |
| Occasional (29-5%) | ||
| HP:0001394 | Cirrhosis | |
| HP:0002194 | Delayed gross motor development | |
| HP:0000750 | Delayed speech and language development | |
| HP:0100607 | Dysmenorrhea | |
| HP:0003236 | Elevated circulating creatine kinase concentration | |
| HP:0003546 | Exercise intolerance | |
| HP:0012378 | Fatigue | |
| HP:0001252 | Hypotonia | |
| HP:0000858 | Irregular menstruation | |
| HP:0012734 | Ketotic hypoglycemia | |
| HP:0003325 | Limb-girdle muscle weakness | |
| HP:0011342 | Mild global developmental delay | |
| HP:0003394 | Muscle spasm | |
| HP:0003326 | Myalgia | |
| HP:0000876 | Oligomenorrhea | |
| HP:0003749 | Pelvic girdle muscle weakness | |
| HP:0000147 | Polycystic ovaries | |
| HP:0003323 | Progressive muscle weakness | |
| HP:0001988 | Recurrent hypoglycemia | |
| HP:0002719 | Recurrent infections | |
| HP:0001947 | Renal tubular acidosis | |
| HP:0004322 | Short stature | |
| HP:0003202 | Skeletal muscle atrophy | |
| HP:0001744 | Splenomegaly | |
| Very rare (<4-1%) | ||
| HP:0001903 | Anemia | |
| HP:0002014 | Diarrhea | |
| HP:0012028 | Hepatocellular adenoma | |
| HP:0001402 | Hepatocellular carcinoma | |
| HP:0004324 | Increased body weight | |
| HP:0003128 | Lactic acidosis | |
| HP:0002913 | Myoglobinuria | |
| HP:0002018 | Nausea | |
| HP:0000939 | Osteoporosis | |
| HP:0003201 | Rhabdomyolysis | |
| HP:0002013 | Vomiting | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 33317799[PMID]_21634085[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79240
- This record as JSON: /data/d/79240.json