Kufor-Rakeb Syndrome (KRS)

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OMIM 57 606693 Disease Ontology 12 DOID:0060556 MeSH 44 C537177 D020734 Orphanet 59 ORPHA306674 UMLS via Orphanet 74 C1847640

ICD10 via Orphanet 34 G23.0 MedGen 42 C1847640 KEGG 37 H02207 SNOMED-CT via HPO 69 258211005 165232002 103606006 248149005 44169009 270476009 70070008 74333002 246773002 404686001 10810001 420675003 563001 59026006 423142006 248004009 61372001 52448006 247762003 7011001 20602000 128613002 246545002 313307000 84757009 91175000 85102008 214264003 221360009 397790002 192967009 8011004 41581000 56731001 22325002 286933003 32798002 127324008 17450006 26079004 86854008 229844004 386661006 50177009 288939007 40739000 16046003 399317006 278849000 33994004 228158008 64269007 255385008 43994002 1845001 48257004 72042002 246586009 366575004 83156004 5332004 248274002 84229001 9748009 more UMLS 73 C1847640

OMIM : ⁵⁷ 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 abnormal pyramidal signs. 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 nystagmus and dysarthria

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 : ⁷⁵ 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 : ⁷⁶ Kufor�??Rakeb syndrome is an autosomal recessive disorder of juvenile onset also known as Parkinson... more...

Clinical features from OMIM:

606693

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Search GEO for disease gene expression data for Kufor-Rakeb Syndrome.