MUCOPOLYSACCHARIDOSIS I-S; SCHEIE SYNDROME

Question 1

What is  MUCOPOLYSACCHARIDOSIS I-S; SCHEIE SYNDROME?

Accepted Answer

rare (1:600000)
autosomal recessive
mildest of the mucopolysaccharidoses

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Mukopolysaccharidose Typ 1-S; Scheie-Krankheit

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 607016

Question 4

Which enzymes are involved?

Accepted Answer

alpha-L-Iduronidase

Disease	MUCOPOLYSACCHARIDOSIS I-S; SCHEIE SYNDROME
Synonym	MPS1-S
OMIM	607016 OMIM = Online Mendelian Inheritance of Men
Orphanet	93474
Protein (UniProt)	alpha-L-Iduronidase
ExPASy	3.2.1.76
Gene locus	4p16.3
ICD	E76.0
Summary	rare (1:600000) autosomal recessive mildest of the mucopolysaccharidoses
Laboratory findings	alpha-Iduronidase dec (fibroblasts) Dermatan sulfate inc (urine) Heparan sulfate inc (urine) Mucopolysaccharides inc (urine)
Symptoms	aortic valvular disease apnea blindness, visual loss, visual impairment carpal tunnel syndrome coarse facial features corneal clouding corneal deposits dysostosis multiplex genu valgum glaucoma joint stiffness myopathy obstructive airway disease onset, childhood retinitis pigmentosa