PHOSPHATIDYLINOSITOL GLYCAN ANCHOR BIOSYNTHESIS CLASS B PROTEIN (PIGB)

Question 1

What is  PHOSPHATIDYLINOSITOL GLYCAN ANCHOR BIOSYNTHESIS CLASS B PROTEIN (PIGB)?

Accepted Answer

rare

mutations in the PIGB gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 604122

Question 3

Which enzymes are involved?

Accepted Answer

GPI mannosyltransferase 3

Disease	PHOSPHATIDYLINOSITOL GLYCAN ANCHOR BIOSYNTHESIS CLASS B PROTEIN (PIGB)
Synonym	PIGB DEFICIENCY
OMIM	604122 OMIM = Online Mendelian Inheritance of Men
Orphanet	---
Protein (UniProt)	GPI mannosyltransferase 3
Gene locus	15q21.3
ICD
Summary	rare mutations in the PIGB gene
Laboratory findings	2-Oxoglutaric acid inc (urine)
Symptoms	developmental delay dysmorphism intellectual disability/intellectual developmental disorder onset, infancy onset, neonatal peripheral neuropathy seizures skeletal changes, skeletal abnormalities