GLYCOGEN STORAGE DISEASE TYPE XV

Question 1

What is  GLYCOGEN STORAGE DISEASE TYPE XV?

Accepted Answer

rare
autosomal recessive
mutation in the GYG1 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

GSD [Glykogenspeicherkrankheit] Typ 15; Glykogenose mit schwerer Kardiomyopathie durch Glycogenin-Mangel

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 613507

Question 4

Which enzymes are involved?

Accepted Answer

Glycogenin-1

Disease	GLYCOGEN STORAGE DISEASE TYPE XV
Synonym	GSD15
OMIM	613507 OMIM = Online Mendelian Inheritance of Men
Orphanet	263297
Protein (UniProt)	Glycogenin-1
ExPASy	2.4.1.186
Gene locus	3q24
ICD	E74.0
Summary	rare autosomal recessive mutation in the GYG1 gene
Laboratory findings	Glycogen dec (muscle) Uric acid inc (serum)
Symptoms	cardiac arrhythmia, dysrhythmia cardiomyopathy, hypertrophic muscle weakness onset, adulthood pain, chest shortness of breath vertigo, dizziness