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GTR Home > Conditions/Phenotypes > Niemann-Pick disease, type C1

Niemann-Pick disease, type C1

Synonyms
NIEMANN-PICK DISEASE WITHOUT SPHINGOMYELINASE DEFICIENCY; NIEMANN-PICK DISEASE, VARIANT TYPE C1; Neurovisceral storage disease with vertical supranuclear ophthalmoplegia; Niemann-Pick disease with cholesterol esterification block; Niemann-Pick disease, chronic neuronopathic form

Summary

Excerpted from the GeneReview: Niemann-Pick Disease Type C
Niemann-Pick disease type C (NPC) is a slowly progressive lysosomal disorder whose principal manifestations are age dependent. The manifestations in the perinatal period and infancy are predominantly visceral, with hepatosplenomegaly, jaundice, and (in some instances) pulmonary infiltrates. From late infancy onward, the presentation is dominated by neurologic manifestations. The youngest children may present with hypotonia and developmental delay, with the subsequent emergence of ataxia, dysarthria, dysphagia, and, in some individuals, epileptic seizures, dystonia, and gelastic cataplexy. Although cognitive impairment may be subtle at first, it eventually becomes apparent that affected individuals have a progressive dementia. Older teenagers and young adults may present predominantly with apparent early-onset dementia or psychiatric manifestations; however, careful examination usually identifies typical neurologic signs.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Marc Patterson
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Available tests

106 tests are in the database for this condition.

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Clinical tests (106 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: NPC, POGZ, SLC65A1, NPC1
    Summary: NPC intracellular cholesterol transporter 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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