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What is Niemann-Pick disease, type C1?

What is Niemann-Pick disease, type C1?

  • Niemann-Pick disease, type C1: Niemann-Pick disease is an inherited metabolic disorder where lipids are not able to be metabolized adequately and hence build up and cause damage in various parts of the body such as the spleen, liver, lungs, bone marrow and brain. The different types of the disease are due to different genetic mutations. Type C is a juvenile or subacute form of the condition which usually starts during childhood and survival into adulthood is possible.

Niemann-Pick disease, type C1 is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Niemann-Pick disease, type C1, or a subtype of Niemann-Pick disease, type C1, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)

Niemann-Pick disease, type C1: Introduction

Types of Niemann-Pick disease, type C1:

Broader types of Niemann-Pick disease, type C1:

How serious is Niemann-Pick disease, type C1?

Prognosis of Niemann-Pick disease, type C1: survival into adulthood possible
Complications of Niemann-Pick disease, type C1: see complications of Niemann-Pick disease, type C1

What causes Niemann-Pick disease, type C1?

Causes of Niemann-Pick disease, type C1: see causes of Niemann-Pick disease, type C1

What are the symptoms of Niemann-Pick disease, type C1?

Symptoms of Niemann-Pick disease, type C1: see symptoms of Niemann-Pick disease, type C1

Complications of Niemann-Pick disease, type C1: see complications of Niemann-Pick disease, type C1

Onset of Niemann-Pick disease, type C1: childhood

Can anyone else get Niemann-Pick disease, type C1?

More information: see contagiousness of Niemann-Pick disease, type C1
Inheritance: see inheritance of Niemann-Pick disease, type C1

Niemann-Pick disease, type C1: Testing

Diagnostic testing: see tests for Niemann-Pick disease, type C1.

Misdiagnosis: see misdiagnosis and Niemann-Pick disease, type C1.

How is it treated?

Doctors and Medical Specialists for Niemann-Pick disease, type C1: Medical Geneticist ; see also doctors and medical specialists for Niemann-Pick disease, type C1.
Treatments for Niemann-Pick disease, type C1: see treatments for Niemann-Pick disease, type C1

Name and Aliases of Niemann-Pick disease, type C1

Main name of condition: Niemann-Pick disease, type C1

Other names or spellings for Niemann-Pick disease, type C1:

NPD type C1, Niemann-Pick disease, type C, NPC1, Niemann-Pick disease with cholesterol esterification block, Niemann-Pick disease, subacute juvenile form, Niemann-Pick disease, chronic neuronopathic form, Neurovisceral storage disease with vertical supranuclear ophthalmoplegia, Cholesterol esterification disorder

Niemann-Pick disease type C, Juvenile dystonic lipidosis, Niemann-pick disease with cholesterol esterification block, Niemann-pick disease, chronic neuronopathic form, Niemann-pick disease, subacute juvenile form
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

Niemann-Pick disease, type C1: Related Conditions

Research the causes of these diseases that are similar to, or related to, Niemann-Pick disease, type C1:

 

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