NIEMANN-PICK DISEASE TYPE A

Question 1

What is  NIEMANN-PICK DISEASE TYPE A?

Accepted Answer

rare (> 100 cases, all forms, Ashkenazic jewish 1:120)
autosomal recessive
mutation in the sphingomyelin phosphodiesterase-1 gene
different phenotypes

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Niemann-Pick-Krankheit Typ A

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 257200

Question 4

Which enzymes are involved?

Accepted Answer

Sphingomyelin phosphodiesterase

Disease	NIEMANN-PICK DISEASE TYPE A
OMIM	257200 OMIM = Online Mendelian Inheritance of Men
Orphanet	77292
Protein (UniProt)	Sphingomyelin phosphodiesterase
ExPASy	---
Gene locus	11p15.4
ICD	E75.2
Summary	rare (> 100 cases, all forms, Ashkenazic jewish 1:120) 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)
Symptoms	anemia cherry-red spot on retinal macula cirrhosis or fibrosis of liver constipation early death failure to thrive feeding difficulties, poor feeding hepatomegaly (large liver) hypotonia infections (severe or recurrent) interstitial pneumonitis jaundice mental retardation muscle weakness neurological deterioration onset, infancy osteoporosis progressive neurologic defect psychomotor retardation ptosis (drooping eyelid) short stature splenomegaly (large spleen) vomiting xanthoma