Kufor-rakeb syndrome

Preferred Label : Kufor-rakeb syndrome;

Symbol : KRS;

CISMeF acronym : KRS; PARK9;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Pallidopyramidal degeneration with supranuclear upgaze paresis and dementia; PARK9; Parkinson disease 9, autosomal recessive, juvenile-onset; KRPPD;

Description : 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. For a phenotypic description and a discussion of genetic heterogeneity of neuronal ceroid lipofuscinosis (CLN), see 256730.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the ATPase type 13A2 gene (ATP13A2, 610513.0001);

Laboratory abnormalities : Cytoplasmic lamellar inclusions consistent with neuronal ceroid lipofuscinosis (in 1 family studied);

Prefixed ID : #606693;

Details

Origin ID

606693;

UMLS CUI

C1847640;

Automatic exact mappings (from CISMeF team)
- Korea, Republic of [NCIt concept]
Broader ORDO disease(s)
- Young-onset Parkinson disease [ORDO Disease]
Currated CISMeF NLP mapping
- Kufor Rakeb syndrome (disorder) [SNOMED CT concept]
- Kufor-Rakeb syndrome [DO Concept]
- Kufor-Rakeb syndrome [MeSH concept]
- Kufor-Rakeb syndrome [MeSH Supplementary Concept]
- Kufor-Rakeb syndrome [ORDO Disease]
DO Cross reference
- Kufor-Rakeb syndrome [DO Concept]
False automatic mappings
- Kiribati [NCIt concept]
Genes related to phenotype
- Atpase 13a2 [OMIM gene]
HPO term(s)
- Aggressive behavior [HPO term]
- Akinesia [HPO term]
- Anarthria [HPO term]
- Anosmia [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Babinski sign [HPO term]
- Bradykinesia [HPO term]
- Brisk reflexes [HPO term]
- Dementia [HPO term]
- Distal sensory impairment [HPO term]
- Dysarthria [HPO term]
- Dysphagia [HPO term]
- Dystonia [HPO term]
- Fatigue [HPO term]
- Gait disturbance [HPO term]
- Hallucinations [HPO term]
- Hyperreflexia [HPO term]
- Hypertonia [HPO term]
- Hypokinesia [HPO term]
- Hyposmia [HPO term]
- Intellectual disability, mild [HPO term]
- Juvenile onset [HPO term]
- Leg muscle stiffness [HPO term]
- Mask-like facies [HPO term]
- Myoclonus [HPO term]
- Palmomental reflex [HPO term]
- Paraparesis [HPO term]
- Parkinsonism [HPO term]
- Parkinsonism with favorable response to dopaminergic medication [HPO term]
- Postural instability [HPO term]
- Psychotic episodes [HPO term]
- Rapidly progressive [HPO term]
- Rigidity [HPO term]
- Seizure [HPO term]
- Slow saccadic eye movements [HPO term]
- Spastic paraplegia [HPO term]
- Spasticity [HPO term]
- Supranuclear gaze palsy [HPO term]
- Torticollis [HPO term]
- Tremor [HPO term]
- Young adult onset [HPO term]
ORDO concept(s)
- ATP13A2-related juvenile neuronal ceroid lipofuscinosis [ORDO Disease]
- Kufor-Rakeb syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Kufor Rakeb syndrome (disorder) [SNOMED CT concept]
- Kufor-Rakeb syndrome [MeSH Supplementary Concept]
- Kufor-Rakeb syndrome [MeSH concept]
- Kufor-Rakeb syndrome [ORDO Disease]
- Kufor-Rakeb syndrome [DO Concept]
- Parkinson Disease 9 [NCIt concept]

Keyword's position in hierarchy(ies) :

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