glycogen storage disease type ii

Preferred Label : glycogen storage disease type ii;

MeSH definition : An autosomal recessively inherited glycogen storage disease caused by GLUCAN 1,4-ALPHA-GLUCOSIDASE deficiency. Large amounts of GLYCOGEN accumulate in the LYSOSOMES of skeletal muscle (MUSCLE, SKELETAL); HEART; LIVER; SPINAL CORD; and BRAIN. Three forms have been described: infantile, childhood, and adult. The infantile form is fatal in infancy and presents with hypotonia and a hypertrophic cardiomyopathy (CARDIOMYOPATHY, HYPERTROPHIC). The childhood form usually presents in the second year of life with proximal weakness and respiratory symptoms. The adult form consists of a slowly progressive proximal myopathy. (From Muscle Nerve 1995;3:S61-9; Menkes, Textbook of Child Neurology, 5th ed, pp73-4);

MeSH synonym : lysosomal alpha 1,4 glucosidase deficiency disease; pompe disease; glycogenosis 2; acid maltase deficiency disease; deficiency disease, acid maltase; pompes disease; Disease, Pompe's; Disease, Pompe; Glycogen Storage Disease Type 2; Generalized Glycogenoses; Glycogenoses, Generalized; type ii, glycogenosis; type iis, glycogenosis; lysosomal alpha-1,4-glucosidase deficiency disease; deficiency disease, lysosomal alpha-1,4-glucosidase; generalized glycogenosis; glycogenosis, generalized; pompe's disease; glycogenosis type ii; GAA deficiency; deficiencies, GAA; deficiency, GAA; GAA deficiencies; glycogen storage disease II; acid Alpha-Glucosidase deficiency; acid alpha glucosidase deficiency; acid Alpha-Glucosidase deficiencies; Alpha-Glucosidase deficiencies, acid; Alpha-Glucosidase deficiency, acid; deficiencies, acid Alpha-Glucosidase; deficiency, acid Alpha-Glucosidase; deficiency of Alpha-Glucosidase; Alpha-Glucosidase deficiencies; Alpha-Glucosidase deficiency; deficiency of alpha glucosidase; GSD2; GSD2s; GSD II;

CISMeF synonym : Pompe; Glycogenosis 2s; glycogenosis type iis; iis, glycogenosis type;

MeSH hyponym : glycogen storage disease type II, infantile; adult glycogen storage disease type II; glycogen storage disease type II, juvenile; Juvenile Glycogen Storage Disease Type II; Infantile Glycogen Storage Disease Type II; Glycogen Storage Disease Type II, Adult;

Related MeSH term : maltase deficiency, acid; acid maltase deficiency; Acid Maltase Deficiencies; Deficiencies, Acid Maltase; Deficiency, Acid Maltase; Maltase Deficiencies, Acid; Alpha-1,4-Glucosidase Deficiency; Alpha 1,4 Glucosidase Deficiency; Alpha-1,4-Glucosidase Deficiencies; Deficiencies, Alpha-1,4-Glucosidase; Deficiency, Alpha-1,4-Glucosidase;

Wikipedia link : https://en.wikipedia.org/wiki/Pompe;

Details

Origin ID

D006009;

UMLS CUI

C0017921;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- 5'-nucleotidase, cytosolic IIIA [ORDO Gene]
- Arf-GAP with SH3 Domain, Ankyrin Repeat and PH Domain-Containing 1 [NCIt concept]
- Deficiency of glucan 1,4-alpha-glucosidase (disorder) [SNOMED CT concept]
- Generalized glycogenosis (disorder) [SNOMED CT concept]
- Glycogen storage disease [ICD-10 Sub-category]
- Glycogen storage disease [ICD-10 Sub-category (who)]
- Glycogen storage disease due to acid maltase deficiency, adult onset [ORDO Disease]
- Glycogen storage disease type III [MedDRA Preferred Term]
- Glycogenosis II Pompe [PASCAL descriptor]
- Lysosomal alpha-1,4-glucosidase deficiency (disorder) [Inactive SNOMED CT concept]
- NT5C3A wt Allele [NCIt concept]
- Proteasome maturation protein [OMIM gene]
- TFIIA-Alpha and Beta Like Factor [NCIt concept]
- Type I glycogen storage disease [MedDRA LLT]
- Type V glycogen storage disease [MedDRA LLT]
- alpha glucosidase [ORDO Gene]
- alpha glucosidase [HGNC gene]
- glycogen storage disease type x [SNOMED Notion]
- glycogen storage disease, type i [SNOMED Notion]
- glycogen storage disease, type iii [SNOMED Notion]
- glycogen storage disease, type v [SNOMED Notion]
- proteasome maturation protein [ORDO Gene]
Currated CISMeF NLP mapping
- Deficiency of alpha-glucosidase (disorder) [SNOMED CT concept]
- 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 [OMIM Phenotype]
- 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 2 [Disease (Nov.)]
- glycogen storage disease, type ii [SNOMED Notion]
DO Cross reference
- glycogen storage disease II [DO Concept]
Indexing information
- GAA protein, human [MeSH Supplementary Concept]
Manual NTBT mappings (CISMeF)
- Disorder of lysosomal amino acid transport [ORDO Disease]
- Glycogen storage disease with hypertrophic cardiomyopathy [ORDO Disease]
- Lysosomal disease with hypertrophic cardiomyopathy [ORDO Disease]
- Lysosomal disease with restrictive cardiomyopathy [ORDO Disease]
- Muscular glycogenosis [ORDO Disease]
ORDO relation(s)
- Glycogen storage disease due to acid maltase deficiency [ORDO Disease]
Record concept(s)
- acid maltase deficiency [MeSH concept]
- adult glycogen storage disease type II [MeSH concept]
- glycogen storage disease type II [MeSH concept]
- glycogen storage disease type II, infantile [MeSH concept]
- glycogen storage disease type II, juvenile [MeSH concept]
Related MeSH Supplementary Concept(s)
- cardiac form of generalized glycogenosis [MeSH Supplementary Concept]
See also
- alpha-Glucosidases [MeSH Descriptor]
- glucan 1,4-alpha-glucosidase [MeSH Descriptor]
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 [OMIM Phenotype]
- Pompe disease [LOINC component]
- Pompe's disease [MedDRA LLT]
- Type II glycogen storage disease [MedDRA LLT]
- glycogen storage disease II [DO Concept]
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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