GAUCHER DISEASE, PERINATAL LETHAL

rare (<1:1000000) under construction

Gaucher-Krankheit, fetale, Perinatal-letale Form der Gaucher-Krankheit

Question 1

What is  GAUCHER DISEASE, PERINATAL LETHAL?

Accepted Answer

rare (<1:1000000)
under construction

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Gaucher-Krankheit, fetale, Perinatal-letale Form der Gaucher-Krankheit

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 608013

Question 4

Which enzymes are involved?

Accepted Answer

Glucosylceramidase

Disease	GAUCHER DISEASE, PERINATAL LETHAL
OMIM	608013 OMIM = Online Mendelian Inheritance of Men
Orphanet	85212
Protein (UniProt)	Glucosylceramidase
ExPASy	3.2.1.45
Gene locus	1q22
ICD	E75.2
Summary	rare (<1:1000000) under construction
Laboratory findings
Symptoms	onset, fetus onset, neonatal