Skip to
  1. Homepage
  2. Rare diseases
  3. Search
Simple search

Simple search

*
(*) mandatory field





 

Other search option(s)

Niemann-Pick disease type B

Orpha number ORPHA77293
Synonym(s) -
Prevalence 1-9 / 1 000 000
Inheritance
  • Autosomal recessive
Age of onset Childhood
ICD-10
  • E75.2
OMIM
UMLS
  • C0268243
MeSH
  • D052537
MedDRA -
SNOMED CT
  • 39390005

Summary

Niemann-Pick disease type B is a mild subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in childhood with hepatosplenomegaly, growth retardation, and lung disorders such as infections and dyspnea


(*) Required fields.

Attention: Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.


Captcha image

Detailed information

Summary information
Get Acrobat Reader
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.