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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/300257
http://purl.bioontology.org/ontology/OMIM/300257
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|---|---|
| Preferred Name | DANON DISEASE |
| Synonyms |
LYSOSOMAL GLYCOGEN STORAGE DISEASE WITHOUT ACID MALTASE DEFICIENCY, FORMERLY
GLYCOGEN STORAGE DISEASE IIb
GSD IIb, FORMERLY
ANTOPOL DISEASE
PSEUDOGLYCOGENOSIS II
VACUOLAR CARDIOMYOPATHY AND MYOPATHY, X-LINKED
GSD2B, FORMERLY
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
LYSOSOMAL GLYCOGEN STORAGE DISEASE WITHOUT ACID MALTASE DEFICIENCY, FORMERLY
GLYCOGEN STORAGE DISEASE IIb
GSD IIb, FORMERLY
ANTOPOL DISEASE
PSEUDOGLYCOGENOSIS II
VACUOLAR CARDIOMYOPATHY AND MYOPATHY, X-LINKED
GSD2B, FORMERLY
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|---|---|
| prefLabel | DANON DISEASE
|
| Gene Symbol |
LAMPB
LAMP2
DND
LGP110
|
| Scope Statement | Females often show milder phenotype with later onset of cardiac symptoms [MISCELLANEOUS]
Sudden death in affected females occurs in the forties [MISCELLANEOUS]
Phenotypic variability [MISCELLANEOUS]
Not all patients have skeletal muscle symptoms or mental retardation [MISCELLANEOUS]
Sudden death in affected males occurs in teens [MISCELLANEOUS]
Caused by mutation in the lysosome associated membrane protein-2 gene (LAMP2, 309060.0001) [MOLECULAR BASIS]
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| type | |
| Has manifestation |
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| tui | T047
|
| Gene Locus | Xq24
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 300257
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C0878677
|
| Moved from |
309660
232330
153360
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |