Glycogen storage disease ib

Preferred Label : Glycogen storage disease ib;

Symbol : GSD1B;

CISMeF acronym : GSD1B;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Glucose-6-phosphate transport defect; Gsd ib;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the glucose-6-phosphate transporter 1 gene (G6PT1, 602671.0001);

Laboratory abnormalities : T1 transport protein (Glucose-6-phosphate translocase) defect; Hyperlipidemia; Hyperuricemia; Lactic acidosis; Hypoglycemia; Proteinuria; Liver transaminases normal to slightly increased;

Prefixed ID : #232220;

Details

Origin ID

232220;

UMLS CUI

C0268146;

Automatic exact mappings (from CISMeF team)
- solute carrier family 37 member 4 [ORDO Gene]
Broader ORDO disease(s)
- Glycogen storage disease due to glucose-6-phosphatase deficiency [ORDO Disease]
Currated CISMeF NLP mapping
- Glucose-6-phosphate transport defect (disorder) [SNOMED CT concept]
- Glycogen Storage Disease Type Ib [NCIt concept]
- Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib [ORDO Disease]
- Glycogen storage disease due to glucose-6-phosphate transport defect [ICD-11 More detail]
- Glycogen storage disease type IB [MedDRA LLT]
- glucose-6-phosphate transport defect [SNOMED Notion]
- glycogen storage disease 1b [Disease (Nov.)]
- glycogen storage disease IB [MeSH concept]
- glycogen storage disease IB [MeSH Supplementary Concept]
DO Cross reference
- glycogen storage disease I [DO Concept]
Genes related to phenotype
- Solute carrier family 37 (glucose-6-phosphate transporter), member 4 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Decreased glomerular filtration rate [HPO term]
- Delayed puberty [HPO term]
- Doll-like facies [HPO term]
- Elevated hepatic transaminase [HPO term]
- Enlarged kidney [HPO term]
- Focal segmental glomerulosclerosis [HPO term]
- Gout [HPO term]
- Hepatocellular carcinoma [HPO term]
- Hepatomegaly [HPO term]
- Hyperlipidemia [HPO term]
- Hypertension [HPO term]
- Hyperuricemia [HPO term]
- Hypoglycemia [HPO term]
- Lactic acidosis [HPO term]
- Lipemia retinalis [HPO term]
- Liver transaminases normal to slightly increased [HPO term]
- Nephrolithiasis [HPO term]
- Neutropenia [HPO term]
- Oral ulcer [HPO term]
- Osteoporosis [HPO term]
- Pancreatitis [HPO term]
- Proteinuria [HPO term]
- Protuberant abdomen [HPO term]
- Recurrent bacterial infections [HPO term]
- Reduced creatinine clearance [HPO term]
- Short stature [HPO term]
- Xanthelasma [HPO term]
- Xanthomatosis [HPO term]
ORDO concept(s)
- Glycogen storage disease due to glucose-6-phosphatase deficiency [ORDO Disease]
- Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Glucose-6-phosphate transport defect (disorder) [SNOMED CT concept]
- Glycogen Storage Disease Type Ib [NCIt concept]
- Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib [ORDO Disease]
- Glycogen storage disease due to glucose-6-phosphate transport defect [ICD-11 More detail]
- Glycogen storage disease type IB [MedDRA LLT]
- glucose-6-phosphate transport defect [SNOMED Notion]
- glycogen storage disease 1b [Disease (Nov.)]
- glycogen storage disease IB [MeSH Supplementary Concept]
- glycogen storage disease IB [MeSH concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients