Kufor-Rakeb Syndrome (KRS)

Alias:

Park9

Pallidopyramidal Degeneration with Supranuclear Upgaze Paresis and Dementia

Parkinson Disease 9

Krppd

Krs

Parkinson Disease 9, Autosomal Recessive, Juvenile-Onset

Atp13a2-Related Juvenile Neuronal Ceroid Lipofuscinosis

Autosomal Recessive Juvenile Onset Parkinson Disease 9

Juvenile Parkinsonism-Neuronal Ceroid Lipofuscinosis

Autosomal Recessive Parkinson Disease 9

Parkinson Disease Autosomal Recessive 9

Cln12 Disease

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Kufor-Rakeb Syndrome, also known as park9, is related to neurodegeneration with brain iron accumulation 1 and polyneuropathy, and has symptoms including ataxia, muscle rigidity and myoclonus. An important gene associated with Kufor-Rakeb Syndrome is ATP13A2 (ATPase Cation Transporting 13A2), and among its related pathways/superpathways are Neuroscience and Autophagy. The drug Iron has been mentioned in the context of this disorder. Affiliated tissues include eye and brain, and related phenotypes are abnormal pyramidal sign and babinski sign

Related ID：

MALACARDS：KFR001

OMIM：606693

MESH：C537177