ORPHA:79259
Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib
Synonyms: G6P deficiency type Ib · G6P translocase deficiency · G6PT deficiency · GSD due to G6P deficiency type 1b · GSD due to G6P deficiency type Ib · GSD due to G6PT deficiency · GSD type 1 non a · GSD type 1b · GSD type Ib · GSDIb · Glycogen storage disease due to G6P deficiency type Ib · Glycogen storage disease type 1b · Glycogen storage disease type Ib · Glycogenosis due to glucose-6-phosphatase deficiency type 1b · Glycogenosis due to glucose-6-phosphatase transport defect type Ib · Glycogenosis type 1b · Glycogenosis type Ib
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
This disease is described under Glycogen storage disease due to glucose-6-phosphatase deficiency
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib | G6P deficiency type Ib · G6P translocase deficiency · G6PT deficiency · GSD due to G6P deficiency type 1b · GSD due to G6P deficiency type Ib · GSD due to G6PT deficiency · GSD type 1 non a · GSD type 1b · GSD type Ib · GSDIb · Glycogen storage disease due to G6P deficiency type Ib · Glycogen storage disease type 1b · Glycogen storage disease type Ib · Glycogenosis due to glucose-6-phosphatase deficiency type 1b · Glycogenosis due to glucose-6-phosphatase transport defect type Ib · Glycogenosis type 1b · Glycogenosis type Ib |
| fr | Glycogénose par déficit en glucose-6-phosphatase de type Ib | Déficit en G6P translocase · Déficit en G6P type Ib · Déficit en G6PT type Ib · GSD type 1b · GSDIb · Glycogénose par défaut de transport du glucose-6-phosphatase type 1b · Glycogénose type 1 non a · Glycogénose type 1b · Glycogénose type Ib |
| de | Glykogenose Typ 1b | G6P-Mangel Typ 1b · G6P-Translokase-Mangel · G6PT-Mangel · GSD Typ 1 (nicht a) · GSD Typ 1b · GSD Typ Ib · GSD durch G6P-Mangel Typ Ib · Glykogen-Speicherkrankheit Typ 1b · Glykogen-Speicherkrankheit Typ Ib · Glykogenose Typ Ib · Glykogenose durch Glukose-6-Phosphatase-Mangel Typ 1b · Glykogenose durch Glukose-6-Phosphatase-Transporterdefekt Typ Ib |
| es | Enfermedad por almacenamiento de glucógeno por deficiencia de glucosa-6-fosfatasa tipo Ib | Deficiencia de G6P tipo Ib · Deficiencia de G6P translocasa · Deficiencia de G6PT · Enfermedad de almacenamiento de glucógeno por deficiencia de G6P tipo Ib · Enfermedad de almacenamiento de glucógeno tipo 1b · Enfermedad de almacenamiento de glucógeno tipo Ib · GSD por deficiencia de G6P tipo 1b · GSD por deficiencia de G6P tipo Ib · GSD por deficiencia de G6PT · GSD tipo 1 no a · GSD tipo 1b · GSD tipo Ib · GSDIb · Glucogenosis por deficiencia de glucosa-6-fosfatasa tipo 1b · Glucogenosis por un defecto en el transporte de la glucosa-6-fosfatasa tipo Ib · Glucogenosis tipo 1b · Glucogenosis tipo Ib |
| it | Malattia da deposito di glicogeno dovuta a deficit di glucosio-6-fosfatasi, tipo b | Deficit di G6P traslocasi · Deficit di G6P, tipo b · Deficit di G6PT · GSD da deficit di G6P, tipo b · GSD da deficit di G6PT · GSD da deficit diG6PT · GSD, tipo 1 non-a · GSD, tipo 1b · GSDIb · Glicogenosi Ib · Glicogenosi da deficit di glucosio-6-fosfatasi, tipo b · Glicogenosi da difetto del trasporto di glucosio-6-fosfatasi · Glicogenosi, tipo Ib · Malattia da deposito di glicogeno dovuta a deficit di G6P, tipo b · Malattia da deposito di glicogeno, tipo 1b |
| nl | Glycogeenstapelingsziekte door deficiëntie van glucose-6-fosfatase type 1b | Glycogenose door deficiëntie van glucose-6-fosfatase type Ib · Glycogenose door transportdefect van glucose-6-fosfatase type Ib · Glycogenose type 1b · Glycogenose type Ib · Deficiëntie van G6P-translocase · G6P-deficiëntie type Ib · G6PT-deficiëntie · GSD door G6P-deficiëntie type Ib · GSD door G6PT-deficiëntie · GSD type 1 niet-a · GSD type 1b · GSD type Ib · GSD-1b · GSDIb · Glycogeenstapelingsziekte door G6P-deficiëntie type Ib · Glycogeenstapelingsziekte door deficiëntie van glucose-6-fosfatase type Ib · Glycogeenstapelingsziekte type 1b · Glycogeenstapelingsziekte type Ib · Glycogenose door deficiëntie van glucose-6-fosfatase type 1b |
| pt | Doença de armazenamento de glicogénio por deficiência de glucose-6-fosfatase tipo 1B | |
| pl | Choroba spichrzania glikogenu typu wywołana niedoborem glukozo-6-fosfatazy typu 1b | Choroba spichrzania glikogenu typu 1b · Choroba spichrzania glikogenu z powodu niedoboru G6P typu b · Glikogenoza typu Ib · Glikogenoza z powodu defektu transportera glukozo-6-fosfatazy · Glikogenoza z powodu niedoboru glukozo-6-fosfatazy typu b · GSD typu 1 nie a · GSD typu 1b · GSD z powodu niedoboru G6P typu b · GSD z powodu niedoboru G6PT · GSDIb · Niedobór G6P typu b · Niedobór G6PT · Niedobór translokazy G6P |
| cs | Glykogenóza způsobená deficitem glukóza-6-fosfatázy, typ Ib | Deficit G6P, typ Ib · Deficit G6P translokázy · Deficit G6PT · GSD typ 1 non-a · GSD typ 1b · GSD typ Ib · GSDIb · Glykogenóza, typ 1b · Glykogenóza, typ Ib · GSD způsobená deficitem G6P, typ Ib · GSD způsobená deficitem G6PT · Glykogenóza způsobená deficitem G6P, typ Ib · Glykogenóza způsobená deficitem glukóza-6-fosfatázy, typ 1b · Glykogenóza způsobená poruchou transportu glukóza-6-fosfatázy, typ Ib |
| uk | Дефіцит глікогену внаслідок дефіциту глюкозо-6-фосфатази, тип Ib | Дефіцит G6P, тип Ib · Дефіцит транслокази G6P · Дефіцит G6PT · Дефіцит глікогену внаслідок дефіциту G6P, тип Ib · Глікогенова хвороба накопичення, тип 1b · Хвороба накопичення глікогену типу Ib · Глікогеноз внаслідок дефіциту глюкозо-6-фосфатази типу 1b · Глікогеноз внаслідок дефекту транспорту глюкозо-6-фосфатази типу Ib · Глікогеноз типу 1b · Глікогеноз типу Ib · GSD внаслідок дефіциту G6P, тип 1b · GSD внаслідок дефіциту G6P, тип Ib · GSD через дефіцит G6PT · GSD тип 1 non a · GSD тип 1b · GSD тип Ib · GSDIb |
| zh | 葡糖-6-磷酸酶缺乏所致糖原贮积症1b型 | 葡糖-6-磷酸酶缺乏所致糖原病1b型 |
| tr | Glukoz-6-fosfataz eksikliği tip Ib'ye bağlı glikojen depo hastalığı | Glikoz-6-fosfataz taşıma defekti tip Ib'ye bağlı glikojenoz · GSDIb · GSD tipi 1b · GSD türü Ib · G6PT eksikliği · GSD tip 1 non a · Glikojenoz tip 1b · Glikojenoz tip Ib · G6P eksikliği tipi Ib · G6P translocase eksikliği · G6PT eksikliği nedeniyle GSD · Glikojen depo hastalığı tip 1b · Glikojen depo hastalığı tip Ib · G6P eksikliği tip 1b nedeniyle GSD · G6P eksikliği tip Ib'ye bağlı GSD · G6P eksikliği tip Ib'ye bağlı glikojen depo hastalığı · Glikoz-6-fosfataz eksikliği tip 1b'ye bağlı glikojenoz |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 232220 | E | validated | |
| OMIM | 232240 | BTNT | validated | |
| ICD-10 | E74.0 | NTBT | attributed | validated |
| ICD-11 | 5C51.3 | NTBT | attributed | validated |
| MONDO | 0009288 | E | validated | |
| MeSH | C562594 | E | validated | |
| UMLS | C0268146 | E | validated | |
| GARD | 2515 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:364Glycogen storage disease due to glucose-6-phosphatase deficiency
rare inborn errors of metabolism; rare genetic diseases; rare hepatic diseases; rare renal diseases; rare transplant-related disorders - ORPHA:717874Rare inborn error of metabolism with inflammatory bowel disease
rare gastroenterological diseases; rare genetic diseases; rare transplant-related disorders - ORPHA:331184Syndrome with congenital neutropenia as a major feature
rare genetic diseases; rare immunological diseases; rare transplant-related disorders
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:79260Glycogen storage disease type 1c moved to · inactive
- ORPHA:79261Glycogen storage disease type 1d moved to · inactive
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SLC37A4 | Disease-causing germline mutation(s) in | Assessed | HGNC:4061 | ENSG00000137700 | 602671 | 11q23.3 | solute carrier family 37 member 4 |
5
Prevalence and incidence
4 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 150 cases | Worldwide | Case(s) | Validated | 23351985[PMID] | |
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET |
| Prevalence at birth | 1-9 / 100 000 | 8 / 100 000 | Specific population | Value and class | Validated | 33239050[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 4.1 / 100 000 | Israel | 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.
6
HPO phenotypes
61 annotations · validated 2021-02-03| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0012379 | Abnormal enzyme/coenzyme activity | |
| HP:0001510 | Growth delay | |
| HP:0002240 | Hepatomegaly | |
| HP:0003124 | Hypercholesterolemia | |
| HP:0003077 | Hyperlipidemia | |
| HP:0002155 | Hypertriglyceridemia | |
| HP:0002149 | Hyperuricemia | |
| HP:0001943 | Hypoglycemia | |
| HP:0006568 | Increased hepatic glycogen content | |
| HP:0003128 | Lactic acidosis | |
| HP:0001538 | Protuberant abdomen | |
| HP:0004322 | Short stature | |
| Frequent (79-30%) | ||
| HP:0010974 | Abnormal myeloid leukocyte morphology | |
| HP:0410252 | Chronic neutropenia | |
| HP:0000105 | Enlarged kidney | |
| HP:0001508 | Failure to thrive | |
| HP:0000293 | Full cheeks | |
| HP:0001263 | Global developmental delay | |
| HP:0001397 | Hepatic steatosis | |
| HP:0000858 | Irregular menstruation | |
| HP:0100512 | Low levels of vitamin D | |
| HP:0001270 | Motor delay | |
| HP:0000939 | Osteoporosis | |
| HP:0001733 | Pancreatitis | |
| HP:0000147 | Polycystic ovaries | |
| HP:0002718 | Recurrent bacterial infections | |
| HP:0000311 | Round face | |
| HP:0100646 | Thyroiditis | |
| HP:0100279 | Ulcerative colitis | |
| Occasional (29-5%) | ||
| HP:0001892 | Abnormal bleeding | |
| HP:0012146 | Abnormality of von Willebrand factor | |
| HP:0001903 | Anemia | |
| HP:0000978 | Bruising susceptibility | |
| HP:0000670 | Carious teeth | |
| HP:0100543 | Cognitive impairment | |
| HP:0000696 | Delayed eruption of permanent teeth | |
| HP:0000823 | Delayed puberty | |
| HP:0002014 | Diarrhea | |
| HP:0004387 | Enterocolitis | |
| HP:0000421 | Epistaxis | |
| HP:0000230 | Gingivitis | |
| HP:0012028 | Hepatocellular adenoma | |
| HP:0000822 | Hypertension | |
| HP:0002173 | Hypoglycemic seizures | |
| HP:0000821 | Hypothyroidism | |
| HP:0002659 | Increased susceptibility to fractures | |
| HP:0002037 | Inflammation of the large intestine | |
| HP:0000132 | Menorrhagia | |
| HP:0000121 | Nephrocalcinosis | |
| HP:0000787 | Nephrolithiasis | |
| HP:0000155 | Oral ulcer | |
| HP:0000938 | Osteopenia | |
| HP:0000704 | Periodontitis | |
| HP:0011890 | Prolonged bleeding following procedure | |
| HP:0000093 | Proteinuria | |
| HP:0030950 | Pulmonary venous hypertension | |
| HP:0005576 | Tubulointerstitial fibrosis | |
| HP:0001114 | Xanthelasma | |
| Very rare (<4-1%) | ||
| HP:0001997 | Gout | |
| HP:0001402 | Hepatocellular carcinoma | |
| HP:0003774 | Stage 5 chronic kidney disease | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 30480935[PMID]_31705665[PMID]_20301489[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79259
- This record as JSON: /data/d/79259.json