Glycogen storage disease of heart, lethal congenital

Preferred Label : Glycogen storage disease of heart, lethal congenital;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Phosphorylase kinase deficiency of heart; Glycogen storage disease of heart;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the protein kinase, AMP-activated, noncatalytic, gamma-2 gene (PRKAG2, 602743.0007);

Prefixed ID : #261740;

Détails

Origin ID

261740;

UMLS CUI

C1849813;

Currated CISMeF NLP mapping
- Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease [ORDO Disease]
- Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease (disorder) [SNOMED CT concept]
- Glycogen storage disease due to heart glycogen phosphorylase kinase deficiency [ICD-11 More detail]
- glycogen storage disease of heart, lethal congenital [MeSH concept]
- glycogen storage disease of heart, lethal congenital [MeSH Supplementary Concept]
- lethal congenital glycogen storage disease of heart [DO Concept]
DO Cross reference
- lethal congenital glycogen storage disease of heart [DO Concept]
Genes related to phenotype
- Protein kinase, amp-activated, noncatalytic, gamma-2 [OMIM gene]
HPO term(s)
- Abnormal facial shape [HPO term]
- Ascites [HPO term]
- Autosomal dominant inheritance [HPO term]
- Biventricular hypertrophy [HPO term]
- Bradycardia [HPO term]
- Cardiomegaly [HPO term]
- Cardiomyopathy [HPO term]
- Congestive heart failure [HPO term]
- Cyanosis [HPO term]
- Hypotension [HPO term]
- Macroglossia [HPO term]
- Myopathy [HPO term]
- Neonatal hypoglycemia [HPO term]
- Pulmonary edema [HPO term]
- Seizure [HPO term]
- Shortened PR interval [HPO term]
ORDO concept(s)
- Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease [ORDO Disease]
- Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease (disorder) [SNOMED CT concept]
- Glycogen storage disease due to heart glycogen phosphorylase kinase deficiency [ICD-11 More detail]
- glycogen storage disease of heart, lethal congenital [MeSH Supplementary Concept]
- glycogen storage disease of heart, lethal congenital [MeSH concept]
- lethal congenital glycogen storage disease of heart [DO Concept]

Position du mot-clé dans l'(les) arborescence(s) :

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