Glycogen storage disease ixb

Preferred Label : Glycogen storage disease ixb;

Symbol : GSD9B;

CISMeF acronym : GSD9B;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Phosphorylase kinase deficiency of liver and muscle, autosomal recessive; Gsd ixb; Glycogenosis of liver and muscle, autosomal recessive;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in phosphorylase kinase, beta subunit (PHKB, 172490.0001);

Laboratory abnormalities : Phosphorylase kinase deficiency in liver and muscle; Glycogen accumulation in both liver and muscle;

Prefixed ID : #261750;

Details

Origin ID

261750;

UMLS CUI

C0543514;

Broader ORDO disease(s)
- Glycogen storage disease due to muscle phosphorylase kinase deficiency [ORDO Disease]
Currated CISMeF NLP mapping
- Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency [ORDO Disease]
- Glycogen storage disease due to liver or muscle glycogen phosphorylase kinase deficiency [ICD-11 More detail]
- Glycogen storage disease type IXB (disorder) [SNOMED CT concept]
- Glycogen storage disease type IXb [MedDRA LLT]
- glycogen storage disease IXB [MeSH concept]
- glycogen storage disease IXB [MeSH Supplementary Concept]
- glycogen storage disease IXb [DO Concept]
DO Cross reference
- glycogen storage disease IXb [DO Concept]
Genes related to phenotype
- Phosphorylase kinase, beta subunit [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Diarrhea [HPO term]
- Generalized hypotonia [HPO term]
- Hepatomegaly [HPO term]
- Hypotonia [HPO term]
- Increased hepatic glycogen content [HPO term]
- Increased muscle glycogen content [HPO term]
- Muscle weakness [HPO term]
- Short stature [HPO term]
ORDO concept(s)
- Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency [ORDO Disease]
- Glycogen storage disease due to liver or muscle glycogen phosphorylase kinase deficiency [ICD-11 More detail]
- Glycogen storage disease type IXB (disorder) [SNOMED CT concept]
- Glycogen storage disease type IXb [MedDRA LLT]
- glycogen storage disease IXB [MeSH Supplementary Concept]
- glycogen storage disease IXB [MeSH concept]
- glycogen storage disease IXb [DO Concept]
Validated automatic mappings to NTBT
- Glycogen storage disease due to muscle phosphorylase kinase deficiency [ORDO Disease]
- Glycogen storage disease due to phosphorylase kinase deficiency [ORDO Disease]

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