NIEMANN-PICK DISEASE TYPE B

Question 1

What is  NIEMANN-PICK DISEASE TYPE B?

Accepted Answer

rare (> 100 cases, all forms)
autosomal recessive
mutation in the sphingomyelin phosphodiesterase-1 gene
different phenotypes

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Niemann-Pick-Krankheit Typ B

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 607616

Question 4

Which enzymes are involved?

Accepted Answer

Sphingomyelin phosphodiesterase

Disease	NIEMANN-PICK DISEASE TYPE B
OMIM	607616 OMIM = Online Mendelian Inheritance of Men
Orphanet	77293
Protein (UniProt)	Sphingomyelin phosphodiesterase
Gene locus	11p15.4
ICD	E75.2
Summary	rare (> 100 cases, all forms) autosomal recessive mutation in the sphingomyelin phosphodiesterase-1 gene different phenotypes
Laboratory findings	Acid sphingomyelinase dec (fibroblasts) Foam cells, bone marrow (bone marrow) Sphingomyelin inc (tissue) Thrombocytes, Platelets dec (blood)
Symptoms	cherry-red spot on retinal macula dyspnea early death hepatomegaly (large liver) infections (severe or recurrent) interstitial pneumonitis onset, childhood onset, infancy short stature splenomegaly (large spleen) thrombopenia, thrombocytopenia