ORPHA:369
Glycogen storage disease due to liver glycogen phosphorylase deficiency
Synonyms: GSD due to liver glycogen phosphorylase deficiency · GSD type 6 · GSD type VI · Glycogen storage disease type 6 · Glycogen storage disease type VI · Glycogenosis due to liver glycogen phosphorylase deficiency · Glycogenosis type 6 · Glycogenosis type VI · Hepatic glycogen phosphorylase deficiency · Hepatic phosphorylase deficiency · Hers disease · Liver glycogen phosphorylase deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
A rare form of glycogen storage disease (GSD) characterized by a deficiency of hepatic glycogen phosphorylase leading to impaired glycogenolysis, and characterized by hepatomegaly and growth delay in childhood.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Glycogen storage disease due to liver glycogen phosphorylase deficiency | GSD due to liver glycogen phosphorylase deficiency · GSD type 6 · GSD type VI · Glycogen storage disease type 6 · Glycogen storage disease type VI · Glycogenosis due to liver glycogen phosphorylase deficiency · Glycogenosis type 6 · Glycogenosis type VI · Hepatic glycogen phosphorylase deficiency · Hepatic phosphorylase deficiency · Hers disease · Liver glycogen phosphorylase deficiency |
| fr | Glycogénose par déficit en phosphorylase hépatique | GSD par déficit en phosphorylase hépatique · GSD type 6 · GSD type VI · Glycogénose type 6 · Glycogénose type VI · Maladie de Hers |
| de | Glykogenose Typ 6 | GSD Typ 6 · GSD Typ VI · GSD durch Glykogen-Phosphorylase-Mangel der Leber · Glykogen-Phosphorylase-Mangel der Leber · Glykogen-Speicherkrankheit Typ 6 · Glykogen-Speicherkrankheit Typ VI · Glykogen-Speicherkrankheit durch hepatischen Glykogen-Phosphorylase-Mangel · Glykogenose Typ VI · Hers-Krankheit · Phosphorylase-Mangel, hepatischer |
| es | Enfermedad por almacenamiento de glucógeno por deficiencia de glucógeno fosforilasa hepática | Deficiencia de fosforilasa hepática · Deficiencia de glucógeno fosforilasa en el hígado · Deficiencia de glucógeno fosforilasa hepática · Enfermedad de Hers · Enfermedad de almacenamiento de glucógeno tipo 6 · Enfermedad de almacenamiento de glucógeno tipo VI · GSD por deficiencia de glucógeno fosforilasa hepática · GSD tipo 6 · GSD tipo VI · Glucogenosis por deficiencia de glucógeno fosforilasa hepática · Glucogenosis tipo 6 · Glucogenosis tipo VI |
| it | Malattia da deposito di glicogeno da deficit della glicogeno fosforilasi epatica | Deficit di fosforilasi epatica · Deficit di glicogeno fosforilasi del fegato · Deficit di glicogeno fosforilasi epatica · GSD da deficit di glicogeno fosforilasi epatica · GSD, tipo 6 · Glicogenosi da deficit di glicogeno fosforilasi epatica · Glicogenosi, tipo 6 · Malattia da deposito di glicogeno, tipo 6 · Malattia di Hers |
| nl | Glycogeenstapelingsziekte door deficiëntie van glycogeenfosforylase in lever | GSD door deficiëntie van glycogeenfosforylase in lever · GSD type 6 · GSD type VI · Glycogeenfosforylasedeficiëntie in lever · Glycogeenstapelingsziekte type 6 · Glycogeenstapelingsziekte type VI · Glycogenose door deficiëntie van glycogeenfosforylase in lever · Glycogenose type 6 · Glycogenose type VI · Hepatische fosforylasedeficiëntie · Hepatische glycogeenfosforylasedeficiëntie · Ziekte van Hers |
| pt | Doença de armazenamento de glicogénio por deficiência de glicogenofosforilase hepática | Doença de armazenamento de glicogénio tipo 6 · Glicogenose por deficiência de glicogenofosforilase hepática · Glicogenose tipo 6 |
| pl | Choroba spichrzania glikogenu spowodowana niedoborem wątrobowej fosforylazy glikogenu | Choroba Hersa · Choroba spichrzania glikogenu typu 6B · Glikogenoza spowodowana niedoborem wątrobowej fosforylazy glikogenu · Glikogenoza typu 6B · GSD spowodowana niedoborem wątrobowej fosforylazy glikogenu · GSD typu 6B · Niedobór fosforylazy wątrobowej · Niedobór wątrobowej fosforylazy glikogenu · Niedobór wątrobowej fosforylazy glikogenu |
| cs | Glykogenóza způsobená deficitem jaterní fosforylázy | GSD typ 6 · GSD VI · Glykogenóza, typ 6 · Glykogenóza, typ VI · Deficit jaterní glykogenfosforylázy · Deficit jaterní fosforylázy · Hersova choroba · GSD způsobená deficitem jaterní glykogenfosforylázy · Glykogenóza způsobená deficitem jaterní glykogenfosforylázy |
| uk | Хвороба накопичення глікогену, зумовлена дефіцитом глікогенфосфорилази печінки | Хвороба накопичення глікогену, тип 6 · Хвороба накопичення глікогену VI типу · Глікогеноз внаслідок дефіциту глікогенфосфорилази печінки · Глікогеноз типу 6 · Глікогеноз VI типу · GSD внаслідок дефіциту глікогенфосфорилази печінки · GSD тип 6 · GSD тип VI · Дефіцит печінкової глікогенфосфорилази · Дефіцит печінкової фосфорилази · Хвороба Герса · Дефіцит глікогенфосфорилази печінки |
| zh | 肝糖原磷酸化酶缺乏所致糖原贮积病 | 肝糖原磷酸化酶缺乏所致糖原贮积病 |
| tr | Karaciğer glikojen fosforilaz eksikliğine bağlı glikojen depo hastalığı | GSD tip 6 · GSD tip VI · Hers hastalığı · Glikojenoz tip 6 · Glikojenoz tip VI · Glikojen depo hastalığı tip 6 · Glikojen depo hastalığı tip VI · Hepatik fosforilaz eksikliği · Karaciğer glikojen fosforilaz eksikliği · Hepatik glikojen fosforilaz eksikliği · Karaciğer glikojen fosforilaz eksikliğine bağlı GSD · Karaciğer glikojen fosforilaz eksikliğine bağlı glikojenoz |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 232700 | E | validated | |
| ICD-10 | E74.0 | NTBT | inclusion | validated |
| ICD-11 | 5C51.3 | NTBT | index | validated |
| MONDO | 0009294 | E | validated | |
| MeSH | D006013 | E | validated | |
| UMLS | C0017925 | E | validated | |
| GARD | 6529 | E | validated | |
| MedDRA | 10053240 | 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:101940Rare metabolic liver disease
rare genetic diseases; rare hepatic diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PYGL | Disease-causing germline mutation(s) in | Assessed | HGNC:9725 | ENSG00000100504 | 613741 | 14q22.1 | glycogen phosphorylase L |
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Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
| Prevalence at birth | 1-9 / 100 000 | 2.3 / 100 000 | Israel | Value and class | Validated | 33239050[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 4.8 / 100 000 | Specific population | Value and class | Validated | 33239050[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
28 annotations · validated 2020-02-05| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002240 | Hepatomegaly | |
| HP:0006568 | Increased hepatic glycogen content | |
| Frequent (79-30%) | ||
| HP:0000823 | Delayed puberty | |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0001508 | Failure to thrive | |
| HP:0001510 | Growth delay | |
| HP:0001943 | Hypoglycemia | |
| HP:0001946 | Ketosis | |
| HP:0000938 | Osteopenia | |
| HP:0000939 | Osteoporosis | |
| Occasional (29-5%) | ||
| HP:0003270 | Abdominal distention | |
| HP:0003710 | Exercise-induced muscle cramps | |
| HP:0001395 | Hepatic fibrosis | |
| HP:0003077 | Hyperlipidemia | |
| HP:0001252 | Hypotonia | |
| HP:0004913 | Intermittent lactic acidemia | |
| HP:0000737 | Irritability | |
| HP:0001270 | Motor delay | |
| HP:0006580 | Portal fibrosis | |
| HP:0030973 | Postexertional malaise | |
| HP:0004322 | Short stature | |
| HP:0002360 | Sleep abnormality | |
| Very rare (<4-1%) | ||
| HP:0000077 | Abnormality of the kidney | |
| HP:0001394 | Cirrhosis | |
| HP:0001402 | Hepatocellular carcinoma | |
| HP:0001639 | Hypertrophic cardiomyopathy | |
| HP:0011997 | Postprandial hyperlactemia | |
| HP:0000093 | Proteinuria | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 25266922[PMID]_20301760[PMID]_31768638[PMID]_30659246[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/369
- This record as JSON: /data/d/369.json