GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY

Question 1

What is  GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY?

Accepted Answer

rare

mutation in the gene encoding saposin C (PSAP)

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 610539

Question 3

Which enzymes are involved?

Accepted Answer

Prosaposin

Disease	GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY
Synonym	PSAP
OMIM	610539 OMIM = Online Mendelian Inheritance of Men
Orphanet	355
Protein (UniProt)	Prosaposin
Gene locus	10q22.1
ICD
Summary	rare mutation in the gene encoding saposin C (PSAP)
Laboratory findings	Thrombocytes, Platelets dec (blood)
Symptoms	altered consciousness, consciousness disturbance anemia cachexia EEG abnormalities [-] hepatomegaly (large liver) onset, adolescent onset, childhood ophthalmoplegia osteopenia pyramidal signs seizures splenomegaly (large spleen) thrombopenia, thrombocytopenia