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KRS
MCID: KFR001
MIFTS: 60
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Kufor-Rakeb Syndrome (KRS)
Categories:
Eye diseases, Genetic diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Kufor-Rakeb Syndrome:
Characteristics:Orphanet epidemiological data:58
kufor-rakeb syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Childhood; Age of death: adult;
atp13a2-related juvenile neuronal ceroid lipofuscinosis
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; OMIM:56
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:31
kufor-rakeb syndrome:
Inheritance autosomal recessive inheritance Onset and clinical course rapidly progressive Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Anatomical: Neuronal diseases Eye diseases Mental diseases
ICD10:
33
Orphanet: 58
Rare neurological diseases
Rare eye diseases
Inborn errors of metabolism External Ids:
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OMIM :
56
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 park9, is related to juvenile-onset parkinson's disease and tremor, and has symptoms including ataxia, myoclonus and tremor. An important gene associated with Kufor-Rakeb Syndrome is ATP13A2 (ATPase Cation Transporting 13A2), and among its related pathways/superpathways are Parkinson disease and Chks in Checkpoint Regulation. The drug Dopa Decarboxylase has been mentioned in the context of this disorder. Affiliated tissues include brain, eye and caudate nucleus, and related phenotypes are babinski sign and rigidity Disease Ontology : 12 An early-onset Parkinson's 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 on chromosome 1p36. NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 306674 Definition Kufor-Rakeb syndrome (KRS) is a rare genetic neurodegenerative disorder characterized by juvenile Parkinsonism, pyramidal degeneration (dystonia ), supranuclear palsy, and cognitive impairment. Visit the Orphanet disease page for more resources. KEGG : 36 Kufor Rakeb syndrome (KRS), also known as Parkinson disease 9 (PARK9), is an autosomal recessive disorder characterized by subacute, juvenile onset, levodopa responsive parkinsonism, pyramidal signs, dementia, and a supranuclear gaze palsy. It has been reported that brain MRI revealed generalized atrophy and putaminal and caudate iron accumulation bilaterally. KRS is due to ATP13A2 gene mutations. UniProtKB/Swiss-Prot : 73 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 : 74 Kufor-Rakeb syndrome is an autosomal recessive disorder of juvenile onset also known as Parkinson... more... |
Human phenotypes related to Kufor-Rakeb Syndrome:58 31 (show top 50) (show all 72)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:606693UMLS symptoms related to Kufor-Rakeb Syndrome:ataxia, myoclonus, tremor, abnormality of extrapyramidal motor function, hyposmia, torticollis, muscle rigidity, abnormal pyramidal signs MGI Mouse Phenotypes related to Kufor-Rakeb Syndrome:45
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Drugs for Kufor-Rakeb Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):
Interventional clinical trials:
Cochrane evidence based reviews: kufor-rakeb syndrome |
MalaCards organs/tissues related to Kufor-Rakeb Syndrome:40
Brain,
Eye,
Caudate Nucleus,
Tongue,
Cortex,
Spinal Cord,
Lung
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Articles related to Kufor-Rakeb Syndrome:(show top 50) (show all 140)
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Genes related to Kufor-Rakeb Syndrome (1 elite genes):(show all 21) - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Kufor-Rakeb Syndrome:6 (show top 50) (show all 226)
UniProtKB/Swiss-Prot genetic disease variations for Kufor-Rakeb Syndrome:73
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Search
GEO
for disease gene expression data for Kufor-Rakeb Syndrome.
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Pathways related to Kufor-Rakeb Syndrome according to GeneCards Suite gene sharing:
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Cellular components related to Kufor-Rakeb Syndrome according to GeneCards Suite gene sharing:(show all 17)
Biological processes related to Kufor-Rakeb Syndrome according to GeneCards Suite gene sharing:(show top 50) (show all 57)
Molecular functions related to Kufor-Rakeb Syndrome according to GeneCards Suite gene sharing:
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