Danon disease - CISMeF

Preferred Label : Danon disease;

CISMeF acronym : GSD IIB; GSD2B;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Vacuolar cardiomyopathy and myopathy, X-linked; Gsd iib; Antopol disease; Glycogen storage disease iib; Pseudoglycogenosis II; Lysosomal glycogen storage disease without acid maltase deficiency; GSD2B;

Description : Danon disease is an X-linked dominant disorder predominantly affecting cardiac muscle. Skeletal muscle involvement and mental retardation are variable features. The accumulation of glycogen in muscle and lysosomes originally led to the classification of Danon disease as a variant of glycogen storage disease II (Pompe disease; 232300) with 'normal acid maltase' or alpha-glucosidase (GAA; 606800) (Danon et al., 1981). However, Nishino et al. (2000) stated that Danon disease is not a glycogen storage disease because glycogen is not always increased. Sugie et al. (2005) classified Danon disease as a form of autophagic vacuolar myopathy, characterized by intracytoplasmic autophagic vacuoles with sarcolemmal features. The characteristic vacuole is believed to be an autolysosome surrounded by secondarily-generated membranes containing sarcolemmal proteins, basal lamina, and acetylcholinesterase activity. X-linked myopathy with excessive autophagy (XMEA; 310440) is a distinct disorder with similar pathologic features.;

Inheritance : X-linked dominant;

Molecular basis : Caused by mutation in the lysosome associated membrane protein-2 gene (LAMP2, 309060.0001);

Laboratory abnormalities : Increased serum creatine kinase;

Prefixed ID : #300257;

Details

Origin ID

300257;

UMLS CUI

C0878677;

Currated CISMeF NLP mapping
- Danon disease [Disease (Nov.)]
- Danon disease [DO Concept]
- Danon disease [ICD-11 More detail]
- Danon disease [MedDRA LLT]
- Glycogen Storage Disease Type IIb [NCIt concept]
- Glycogen storage disease due to LAMP-2 deficiency [ORDO Disease]
- Glycogen storage disease due to LAMP-2 deficiency [ICD-11 More detail]
- Glycogen storage disease due to lysosomal associated membrane protein 2 deficiency (disorder) [SNOMED CT concept]
- glycogen storage disease type IIb [MeSH concept]
- glycogen storage disease type iib [MeSH Descriptor]
DO Cross reference
- Danon disease [DO Concept]
Genes related to phenotype
- Lysosome-associated membrane protein 2 [OMIM gene]
HPO term(s)
- Abnormality of cardiac conduction [HPO term]
- Arrhythmia [HPO term]
- Cardiomegaly [HPO term]
- Cognitive impairment [HPO term]
- Diffuse muscle atrophy [HPO term]
- Dilated cardiomyopathy [HPO term]
- EMG shows myopathic changes [HPO term]
- EMG: myopathic abnormalities [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Exercise intolerance [HPO term]
- Exercise-induced muscle cramps [HPO term]
- Generalized amyotrophy [HPO term]
- Global developmental delay [HPO term]
- Hypertrophic cardiomyopathy [HPO term]
- Hypokinesia [HPO term]
- Intellectual disability [HPO term]
- Myocardial fibrosis [HPO term]
- Myocardial necrosis [HPO term]
- Pes cavus [HPO term]
- Proximal muscle weakness [HPO term]
- Subnormal visual acuity [HPO term]
- Visual impairment [HPO term]
- Wolff-Parkinson-White syndrome [HPO term]
- X-linked dominant inheritance [HPO term]
ORDO concept(s)
- Glycogen storage disease due to LAMP-2 deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Danon disease [MedDRA LLT]
- Danon disease [DO Concept]
- Danon disease [Disease (Nov.)]
- Danon disease [ICD-11 More detail]
- Glycogen Storage Disease Type IIb [NCIt concept]
- Glycogen storage disease due to LAMP-2 deficiency [ORDO Disease]
- Glycogen storage disease due to LAMP-2 deficiency [ICD-11 More detail]
- Glycogen storage disease due to lysosomal associated membrane protein 2 deficiency (disorder) [SNOMED CT concept]
- glycogen storage disease type IIb [MeSH concept]
- glycogen storage disease type iib [MeSH Descriptor]

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