Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency

Orpha code: 263297OMIM code: 613507

Definition

Glycogen storage disease type 15 is an extremely rare genetic glycogen storage disease reported in one patient to date. Clinical signs included muscle weakness, cardiac arrhythmia associated with accumulation of abnormal storage material in the heart and glycogen depletion in skeletal muscle.

Disease data
Classification

Disease

Synonyms
GSD type 15
Choroba spichrzania glikogenu typu 15
Choroba spichrzania glikogenu typu XV
Glikogenoza typu 15
Glikogenoza typu XV
Glikogenoza z powodu niedoboru glikogeniny
GSD typu 15
GSD typu XV
GSD z powodu niedoboru glikogeniny
GSD type XV
GSD with severe cardiomyopathy due to glycogenin deficiency
Glycogen storage disease type 15
Glycogen storage disease type XV
Glycogenosis type 15
Glycogenosis type XV
Glycogenosis with severe cardiomyopathy due to glycogenin deficiency
ORPHA code
263297
OMIM code
613507
ICD10 code
E74.0
ICD11 code
-

No additional description.

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