Glycogen storage disease ixc

Preferred Label : Glycogen storage disease ixc;

Symbol : GSD9C;

CISMeF acronym : GSD9C;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Gsd ixc;

Description : Glycogen storage disease IXc is characterized by onset in childhood of hepatomegaly, hypotonia, growth retardation in childhood, and liver dysfunction. These symptoms improve with age in most cases; however, some patients may develop hepatic fibrosis or cirrhosis (Burwinkel et al., 1998).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the testis/liver gamma-2 subunit of phosphorylase kinase gene (PHKG2, 172471.0001);

Laboratory abnormalities : Fasting hypoglycemia; Lactic acidosis; Fasting ketosis; Abnormal liver enzymes; Increased serum triglycerides; Moderately decreased to normal PHK activity in skeletal muscle; Decreased PHK activity in liver;

Prefixed ID : #613027;

Details

Origin ID

613027;

UMLS CUI

C2751643;

Automatic exact mappings (from CISMeF team)
- Glycogen storage disease due to liver phosphorylase kinase deficiency [ORDO Disease]
Currated CISMeF NLP mapping
- glycogen storage disease IXC [MeSH concept]
- glycogen storage disease IXC [MeSH Supplementary Concept]
- glycogen storage disease IXc [DO Concept]
DO Cross reference
- glycogen storage disease IXc [DO Concept]
Genes related to phenotype
- Phosphorylase kinase, testis/liver, gamma-2 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Bile duct proliferation [HPO term]
- Childhood onset [HPO term]
- Cirrhosis [HPO term]
- Elevated hepatic transaminase [HPO term]
- Elevated liver enzymes [HPO term]
- Fasting hypoglycemia [HPO term]
- Growth delay [HPO term]
- Hepatomegaly [HPO term]
- Hypertriglyceridemia [HPO term]
- Hypoglycemia [HPO term]
- Hypotonia [HPO term]
- Increased hepatic glycogen content [HPO term]
- Increased serum lactate [HPO term]
- Infantile onset [HPO term]
- Juvenile onset [HPO term]
- Ketosis [HPO term]
- Lactic acidosis [HPO term]
- Motor delay [HPO term]
- Postnatal growth retardation [HPO term]
- Splenomegaly [HPO term]
ORDO concept(s)
- Glycogen storage disease due to liver phosphorylase kinase deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Glycogen storage disease due to liver phosphorylase kinase deficiency [ORDO Disease]
- glycogen storage disease IXC [MeSH Supplementary Concept]
- glycogen storage disease IXC [MeSH concept]
- glycogen storage disease IXc [DO Concept]
Validated automatic mappings to NTBT
- Glycogen storage disease due to liver phosphorylase kinase deficiency [ORDO Disease]
- Glycogen storage disease due to phosphorylase kinase deficiency [ORDO Disease]

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