Niemann-Pick Disease, Type A

Common Name(s)

Niemann-Pick Disease, Type A

Niemann-Pick disease types A and B are caused by an inherited deficiency of acid sphingomyelinase activity. The clinical phenotype ranges from a severe infantile form with neurologic degeneration resulting in death usually by 3 years of age (type A) to a later-onset nonneurologic form (type B) that is compatible with survival into adulthood. Since intermediate cases also have been reported, the disease is best regarded a single entity with a clinical spectrum (summary by {26:Schuchman, 2007}). {14:Knudson and Kaplan (1962)} suggested that 3 types of the disorder can be distinguished: infantile cerebral, juvenile cerebral, and noncerebral. Later, 5 forms of Niemann-Pick disease were distinguished. Four were delineated by {4:Crocker (1961)}: the classical infantile form (type A), the visceral form (type B), the subacute or juvenile form (type C; {257220}), and the Nova Scotian variant (type D; see {257220}). The fifth, the adult form (type E; see {607616}), was described by {29:Terry et al. (1954)} and {17:Lynn and Terry (1964)}. {24:Schneider et al. (1978)} used the designation type F (see {607616}) for a form characterized in 2 patients by a thermolabile enzyme. Most patients fall into Crocker's group A, with death before age 3 years. {26:Schuchman (2007}) provided a detailed review of Niemann-Pick disease type A, including clinical management.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Niemann-Pick Disease, Type A" for support, advocacy or research.

Center for Jewish Genetics

The Center is dedicated to gathering and disseminating knowledge about Jewish genetic disorders and hereditary cancers. Its mission is to educate and serve health care professionals, clergy and the Jewish community.

Last Updated: 26 Dec 2012

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Niemann-Pick Disease, Type A" for support, advocacy or research.

Center for Jewish Genetics

The Center is dedicated to gathering and disseminating knowledge about Jewish genetic disorders and hereditary cancers. Its mission is to educate and serve health care professionals, clergy and the Jewish community.

http://www.jewishgenetics.org

Last Updated: 26 Dec 2012

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Niemann-Pick Disease, Type A" returned 0 free, full-text research articles on human participants.

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Niemann-Pick Disease, Type A" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Biomarker for Niemann Pick Type C Disease
 

Status: Recruiting

Condition Summary: Niemann-Pick Disease; Niemann-Pick Disease, Type C

 

Last Updated: 3 Jun 2014

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Longitudinal Study of Cognition With Niemann-Pick Disease, Type C
 

Status: Recruiting

Condition Summary: Niemann-Pick Disease, Type C

 

Last Updated: 5 Feb 2014

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Phase 1/2 Study of Vorinostat Therapy in Niemann-Pick Disease, Type C1
 

Status: Recruiting

Condition Summary: Neimann-Pick Disease

 

Last Updated: 15 Aug 2014

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