MUCOLIPIDOSIS III GAMMA

Question 1

What is  MUCOLIPIDOSIS III GAMMA?

Accepted Answer

rare
autosomal recessive

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Mukolipidose Typ III gamma

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 252605

Question 4

Which enzymes are involved?

Accepted Answer

N-acetylglucosamine-1-phosphotransferase subunit gamma

Disease	MUCOLIPIDOSIS III GAMMA
Synonym	MUCOLIPIDOSIS III, COMPLEMENTATION GROUP C
OMIM	252605 OMIM = Online Mendelian Inheritance of Men
Orphanet	423470
Protein (UniProt)	N-acetylglucosamine-1-phosphotransferase subunit gamma
Gene locus	16p13.3
ICD	E77.0
Summary	rare autosomal recessive
Laboratory findings	Glycosaminoglycans, total normal/inc (urine) Oligosaccharides normal/inc (urine)
Symptoms	aortic valvular disease coarse facial features contractures, joints corneal deposits dysmorphism infections (severe or recurrent) mental retardation myopia onset, childhood pain, bones or joints renal cysts scoliosis short stature