GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY (PIGH-CDG)

Question 1

What is  GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY (PIGH-CDG)?

Accepted Answer

rare
autosomal recessive
mutation in the PIGM gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Hyperkoagulabilitätssyndrom durch Glykosylphosphatidyl-Inositol-Mangel

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 610293

Question 4

Which enzymes are involved?

Accepted Answer

GPI mannosyltransferase 1

Disease	GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY (PIGH-CDG)
Synonym	PIGM-CDG, GPID
OMIM	610293 OMIM = Online Mendelian Inheritance of Men
Orphanet	83639
Protein (UniProt)	GPI mannosyltransferase 1
Gene locus	1q23.2
ICD	E88.8
Summary	rare autosomal recessive mutation in the PIGM gene
Laboratory findings	Sialotransferrins (isoelectrofocussing) (plasma)
Symptoms	coarse facial features developmental delay epilepsy hepatomegaly (large liver) onset, childhood onset, infancy onset, neonatal portal hypertension seizures seizures, absence splenomegaly (large spleen) thrombosis