SIALURIA

Question 1

What is  SIALURIA?

Accepted Answer

very rare

autosomal dominant

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 269921

Question 3

Which enzymes are involved?

Accepted Answer

Bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase

Disease	SIALURIA
Synonym	SIALURIA, FRENCH TYPE
OMIM	269921 OMIM = Online Mendelian Inheritance of Men
Orphanet	3166
Protein (UniProt)	Bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase
Gene locus	9p13.3
ICD	E77.8
Summary	very rare autosomal dominant
Laboratory findings
Symptoms	apnea developmental delay dysmorphism hepatomegaly (large liver) inguinal hernia onset, childhood scoliosis seizures splenomegaly (large spleen) syndactyly