Niemann-Pick Disease, Type C1 (NPC1)

Alias:

Niemann-Pick Disease, Type C

Niemann-Pick Disease, Type D

Niemann-Pick Disease Type C

Npc1

Neurovisceral Storage Disease with Vertical Supranuclear Ophthalmoplegia

Niemann-Pick Disease with Cholesterol Esterification Block

Niemann-Pick Disease Without Sphingomyelinase Deficiency

Niemann-Pick Disease, Subacute Juvenile Form

Niemann-Pick Disease Type C1

Niemann-Pick Disease Type D

Npc

Niemann-Pick Disease, Chronic Neuronopathic Form

Niemann-Pick Disease Chronic Neuronopathic Form

Niemann-Pick Disease Subacute Juvenile Form

Niemann-Pick Disease Nova Scotian Type

Niemann-Pick Disease Type Ii

Niemann-Picks Disease Type C

Niemann-Pick C1 Disease

Niemann-Pick Disease C1

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Niemann-Pick Disease, Type C1, also known as niemann-pick disease, type c, is related to niemann-pick disease type c, juvenile neurologic onset and niemann-pick disease type c, adult neurologic onset, and has symptoms including cerebellar ataxia, muscle spasticity and seizures. An important gene associated with Niemann-Pick Disease, Type C1 is NPC1 (NPC Intracellular Cholesterol Transporter 1), and among its related pathways/superpathways are Neuroscience and Cholesterol metabolism. The drugs Miglustat and Glycoside Hydrolase Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include eye and bone marrow, and related phenotypes are gait disturbance and dysphagia

Related ID：

MALACARDS：NMN015

OMIM：257220

MESH：D052556