Pompe disease - CISMeF

Preferred Label : Pompe disease;

CISMeF acronym : AMD; GSD II; GSD2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cardiomegalia glycogenica diffusa; Acid maltase deficiency; AMD; GSD2; Alpha-1,4-glucosidase deficiency; Gsd II; Glycogenosis, generalized, cardiac form; Acid alpha-glucosidase deficiency; Gaa deficiency; Glycogen storage disease II;

Description : Glycogen storage disease II, an autosomal recessive disorder, is the prototypic lysosomal storage disease. In the classic infantile form (Pompe disease), cardiomyopathy and muscular hypotonia are the cardinal features; in the juvenile and adult forms, involvement of skeletal muscles dominates the clinical picture Matsuishi et al. (1984).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the alpha-1,4-glucosidase gene (GAA, 606800.0002);

Laboratory abnormalities : Elevated serum creatine kinase; Elevated AST and LDH, especially infantile-onset; Presence of vacuoles on muscle biopsy; Deficiency of alpha-1,4-glucosidase (acid maltase);

Prefixed ID : #232300;

Details

Origin ID

232300;

UMLS CUI

C0017921;

Automatic exact mappings (from CISMeF team)
- AMD1 wt Allele [NCIt concept]
- Age-Related Macular Degeneration [NCIt concept]
- Cardiac form of generalized glycogenosis [MeSH concept]
- Deficiency of glucan 1,4-alpha-glucosidase (disorder) [SNOMED CT concept]
- Glycogen Storage Disease [NCIt concept]
- Glycogen storage disease due to heart glycogen phosphorylase kinase deficiency [ICD-11 More detail]
- alpha glucosidase [ORDO Gene]
- alpha glucosidase [HGNC gene]
- cardiac form of generalized glycogenosis [MeSH Supplementary Concept]
- glycogen storage disease [MeSH Descriptor]
- glycogen storage disease [MeSH concept]
- glycogen storage disease id [MeSH concept]
- glycogen storage disease id [MeSH Supplementary Concept]
- macular degeneration [MedlinePlus Topic]
Currated CISMeF NLP mapping
- Glycogen Storage Disease Type II [NCIt concept]
- Glycogen storage disease due to acid maltase deficiency [ORDO Disease]
- Glycogen storage disease due to acid maltase deficiency [ICD-11 More detail]
- Glycogen storage disease type II [MedDRA Preferred Term]
- Glycogen storage disease, type II (disorder) [SNOMED CT concept]
- Pompe disease [LOINC component]
- Pompe's disease [MedDRA LLT]
- Type II glycogen storage disease [MedDRA LLT]
- acid maltase deficiency [MeSH concept]
- glycogen storage disease II [DO Concept]
- glycogen storage disease type 2 [Disease (Nov.)]
- glycogen storage disease type II [MeSH concept]
- glycogen storage disease type ii [MeSH Descriptor]
- glycogen storage disease, type ii [SNOMED Notion]
DO Cross reference
- glycogen storage disease II [DO Concept]
Genes related to phenotype
- Glucosidase, alpha, acid [OMIM gene]
HPO term(s)
- Abnormal CNS myelination [HPO term]
- Abnormal myelination [HPO term]
- Areflexia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cardiomegaly [HPO term]
- Diaphragmatic paralysis [HPO term]
- Dilatation of the cerebral artery [HPO term]
- Dyspnea [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Fever [HPO term]
- Firm muscles [HPO term]
- Generalized hypotonia [HPO term]
- Hearing impairment [HPO term]
- Hepatomegaly [HPO term]
- Hypotonia [HPO term]
- Macroglossia [HPO term]
- Muscle weakness [HPO term]
- Proximal muscle weakness [HPO term]
- Recurrent respiratory infections [HPO term]
- Respiratory insufficiency [HPO term]
- Respiratory insufficiency due to muscle weakness [HPO term]
- Shortened PR interval [HPO term]
- Splenomegaly [HPO term]
- Weakness [HPO term]
- Wolff-Parkinson-White syndrome [HPO term]
ORDO concept(s)
- Glycogen storage disease due to acid maltase deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Deficiency of alpha-glucosidase (disorder) [SNOMED CT concept]
- Deficiency of glucan 1,4-alpha-glucosidase (disorder) [SNOMED CT concept]
- Generalized glycogenosis (disorder) [SNOMED CT concept]
- Glycogen Storage Disease Type II [NCIt concept]
- Glycogen storage disease due to acid maltase deficiency [ORDO Disease]
- Glycogen storage disease type II [MedDRA Preferred Term]
- Glycogen storage disease, type II (disorder) [SNOMED CT concept]
- Lysosomal alpha-1,4-glucosidase deficiency (disorder) [Inactive SNOMED CT concept]
- Pompe disease [LOINC component]
- Pompe's disease [MedDRA LLT]
- Type II glycogen storage disease [MedDRA LLT]
- glycogen storage disease II [DO Concept]
- glycogen storage disease type II [MeSH concept]
- glycogen storage disease type ii [MeSH Descriptor]
Validated automatic mappings to BTNT
- Lysosomal alpha-1,4-glucosidase deficiency (disorder) [Inactive SNOMED CT concept]
- Lysosomal alpha-1,4-glucosidase deficiency - infantile onset (disorder) [Inactive SNOMED CT concept]

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