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KRS
MCID: KFR001
MIFTS: 48
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Kufor-Rakeb Syndrome (KRS)
Categories:
Eye diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Kufor-Rakeb Syndrome:
Characteristics:Orphanet epidemiological data:60
kufor-rakeb syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Childhood; Age of death: adult; OMIM:58
Inheritance:
autosomal recessive
Miscellaneous:
variable neurologic phenotype average age of onset 13 years rapidly progressive (6-24 months) rapidly progressive (6-24 months) (in some patients) favorable initial response to l-dopa therapy-induced dyskinesias HPO:33
kufor-rakeb syndrome:
Onset and clinical course rapidly progressive Inheritance autosomal recessive inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Neuronal diseases Eye diseases Mental diseases
ICD10:
35
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OMIM
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58
Kufor-Rakeb syndrome is a rare autosomal recessive form of juvenile-onset atypical Parkinson disease (PARK9) associated with supranuclear gaze palsy, spasticity, and dementia. Some patients have neuroradiologic evidence of iron deposition in the basal ganglia, indicating that the pathogenesis of PARK9 can be considered among the syndromes of neurodegeneration with brain iron accumulation (NBIA; see 234200) (summary by Bruggemann et al., 2010).
For a phenotypic description and a discussion of genetic heterogeneity of Parkinson disease (PD), see 168600.
Biallelic mutation in the ATP13A2 gene also causes autosomal recessive spastic paraplegia-78 (SPG78; 617225), an adult-onset neurodegenerative disorder with overlapping features. Patients with SPG78 have later onset and prominent spasticity, but rarely parkinsonism. Loss of ATP13A2 function results in a multidimensional spectrum of neurologic features reflecting various regions of the brain and nervous system, including cortical, pyramidal, extrapyramidal, brainstem, cerebellar, and peripheral (summary by Estrada-Cuzcano et al., 2017). (606693)
MalaCards based summary : Kufor-Rakeb Syndrome, also known as parkinson disease 9, is related to neurodegeneration with brain iron accumulation 1 and neurodegeneration with brain iron accumulation, and has symptoms including ataxia, tremor and myoclonus. An important gene associated with Kufor-Rakeb Syndrome is ATP13A2 (ATPase Cation Transporting 13A2), and among its related pathways/superpathways are Cardiac conduction and Ion channel transport. Affiliated tissues include brain, eye and tongue, and related phenotypes are babinski sign and rigidity Disease Ontology : 12 A disease that is characterized by supranuclear gaze palsy, spasticity, and dementia and has material basis in homozygous or compound heterozygous mutation in a lysosomal type 5 ATPase encoding gene (ATP13A2) on chromosome 1p36. UniProtKB/Swiss-Prot : 76 Kufor-Rakeb syndrome: A rare form of autosomal recessive juvenile or early-onset, levodopa- responsive parkinsonism. In addition to typical parkinsonian signs, clinical manifestations of Kufor-Rakeb syndrome include behavioral problems, facial tremor, pyramidal tract dysfunction, supranuclear gaze palsy, and dementia. Wikipedia : 77 Kufor–Rakeb syndrome is an autosomal recessive disorder of juvenile onset also known as Parkinson... more... |
Human phenotypes related to Kufor-Rakeb Syndrome:60 33 (show top 50) (show all 64)
Symptoms via clinical synopsis from OMIM:58Clinical features from OMIM:606693UMLS symptoms related to Kufor-Rakeb Syndrome:ataxia, tremor, myoclonus, abnormality of extrapyramidal motor function, torticollis, hyposmia, muscle rigidity, abnormal pyramidal signs MGI Mouse Phenotypes related to Kufor-Rakeb Syndrome:47
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Interventional clinical trials:
Cochrane evidence based reviews: kufor-rakeb syndrome |
MalaCards organs/tissues related to Kufor-Rakeb Syndrome:42
Brain,
Eye,
Tongue,
B Cells
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Articles related to Kufor-Rakeb Syndrome:(show all 23)
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Genes related to Kufor-Rakeb Syndrome (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Kufor-Rakeb Syndrome:76
ClinVar genetic disease variations for Kufor-Rakeb Syndrome:6 (show top 50) (show all 256)
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Search
GEO
for disease gene expression data for Kufor-Rakeb Syndrome.
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Cellular components related to Kufor-Rakeb Syndrome according to GeneCards Suite gene sharing:
Biological processes related to Kufor-Rakeb Syndrome according to GeneCards Suite gene sharing:
Molecular functions related to Kufor-Rakeb Syndrome according to GeneCards Suite gene sharing:
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