Glycogen storage disease ixd

Preferred Label : Glycogen storage disease ixd;

Symbol : GSD9D;

CISMeF acronym : GSD9D;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Muscle phosphorylase kinase deficiency; Gsd ixd; Muscle glycogenosis, X-linked;

Description : Glycogen storage disease type IXd is an X-linked recessive, relatively mild metabolic disorder characterized by variable exercise-induced muscle weakness or stiffness. Most patients have adult-onset of symptoms, and some can remain asymptomatic even in late adulthood. The phenotype is usually only apparent with intense exercise (summary by Preisler et al., 2012).;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the muscle-specific phosphorylase kinase subunit A1 gene (PHKA1, 311870.0001);

Laboratory abnormalities : Increased serum creatine kinase; Myoglobinuria, exercise-induced;

Prefixed ID : #300559;

Details

Origin ID

300559;

UMLS CUI

C1845151;

Broader ORDO disease(s)
- Glycogen storage disease due to muscle phosphorylase kinase deficiency [ORDO Disease]
Currated CISMeF NLP mapping
- Glycogen storage disease due to muscle phosphorylase kinase deficiency [ORDO Disease]
- Glycogen storage disease due to muscle phosphorylase kinase deficiency (disorder) [SNOMED CT concept]
- glycogen storage disease IXd [DO Concept]
- glycogen storage disease, type IXD [MeSH concept]
- glycogen storage disease, type IXD [MeSH Supplementary Concept]
DO Cross reference
- glycogen storage disease IXd [DO Concept]
Genes related to phenotype
- Phosphorylase kinase, muscle, alpha-1 subunit [OMIM gene]
HPO term(s)
- Elevated circulating creatine kinase concentration [HPO term]
- Exercise intolerance [HPO term]
- Exercise-induced muscle stiffness [HPO term]
- Exercise-induced myalgia [HPO term]
- Exercise-induced myoglobinuria [HPO term]
- Muscle weakness [HPO term]
- Skeletal muscle atrophy [HPO term]
- Variable age at onset [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- Glycogen storage disease due to muscle phosphorylase kinase deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Glycogen storage disease due to muscle phosphorylase kinase deficiency [ORDO Disease]
- Glycogen storage disease due to muscle phosphorylase kinase deficiency (disorder) [SNOMED CT concept]
- glycogen storage disease, type IXD [MeSH Supplementary Concept]
- glycogen storage disease, type IXD [MeSH 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]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients