Details of Disease

General Information of Disease (ID: DIS09C7Z)

Disease Name Kufor-Rakeb syndrome
Synonyms
ceroid lipofuscinosis, neuronal, 12; Parkinson disease type 9; KRS; Parkinson disease 9, autosomal recessive, juvenile-onset; Pallidopyramidal degeneration with supranuclear upgaze paresis, and dementia; Parkinson disease 9, autosomal recessive; park 9; Pallidopyramidal Degeneration with supranuclear upgaze paresis and dementia; KRPPD; Kufor-Rakeb syndrome; Kufor Rakeb Syndrome; autosomal recessive Parkinson disease 9; autosomal recessive juvenile onset Parkinson disease 9; PARK9
Definition Kufor-Rakeb syndrome (KRS) is a rare genetic neurodegenerative disorder characterized by juvenile Parkinsonism, pyramidal degeneration (dystonia), supranuclear palsy, and cognitive impairment.
Disease Hierarchy
DISNT5BI: Juvenile-onset Parkinson disease
DISRK4DZ: Neurodegeneration with brain iron accumulation
DIS09C7Z: Kufor-Rakeb syndrome
Disease Identifiers
MONDO ID
MONDO_0011706
MESH ID
C537177
UMLS CUI
C1847640
OMIM ID
606693
MedGen ID
338281
Orphanet ID
306674
SNOMED CT ID
723992000

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
FA2H OT8HA13U Strong Genetic Variation [1]
KARS1 OT0EU4SV Strong Genetic Variation [2]
ATP13A2 OTKWBUGK Definitive Autosomal recessive [3]
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References

1 PLA2G6 mutations and other rare causes of neurodegeneration with brain iron accumulation.Curr Drug Targets. 2012 Aug;13(9):1204-6. doi: 10.2174/138945012802002401.
2 ATP13A2 mutations impair mitochondrial function in fibroblasts from patients with Kufor-Rakeb syndrome.Neurobiol Aging. 2012 Aug;33(8):1843.e1-7. doi: 10.1016/j.neurobiolaging.2011.12.035. Epub 2012 Jan 31.
3 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.