Kufor-Rakeb syndrome
Findings
No curated finding names Kufor-Rakeb syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Kufor-Rakeb syndrome (KRS) is a rare genetic neurodegenerative disorder characterized by juvenile Parkinsonism, pyramidal degeneration (dystonia), supranuclear palsy, and cognitive impairment.
Definition from the Mondo Disease Ontology (MONDO:0011706), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Juvenile onset · Young adult onset
HPO, annotations 2026-09-02
Features
52 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- BradykinesiaHPOHP:0002067
- 4 of 4 reported patients
- Occasional (5% to 29% of cases)
- Brisk reflexesHPOHP:0001348
- 2 of 2 reported patients
- DementiaHPOHP:0000726
- 3 of 3 reported patients
- Very frequent (80% to 99% of cases)
- HypertoniaHPOHP:0001276
- 4 of 4 reported patients
- Occasional (5% to 29% of cases)
- Mild intellectual disabilityHPOHP:0001256
- 2 of 2 reported patients
- RigidityHPOHP:0002063
- 4 of 4 reported patients
- Very frequent (80% to 99% of cases)
Show the remaining 40
- Slow saccadic eye movementsHPOHP:0000514
- 3 of 5 reported patients
- Very frequent (80% to 99% of cases)
- Upper limb hyperreflexiaHPOHP:0007350
- Very frequent (80% to 99% of cases)
- MyoclonusHPOHP:0001336
- 3 of 4 reported patients
- Frequent (30% to 79% of cases)
- Palmomental reflexHPOHP:0030902
- 3 of 4 reported patients
- Abnormal finger morphologyHPOHP:0001167
- Frequent (30% to 79% of cases)
- Abnormality of mental functionHPOHP:0011446
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- ATP13A2HGNC:30213
- Definitive · ClinGen · Autosomal recessive · 2022
- Definitive · Illumina · Autosomal recessive · 2019
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Moderate · G2P · Autosomal recessive · 2022
Where it sits
- Narrower terms (1)
Other names
2 names
Resolves to: Kufor-Rakeb syndrome
- Also called
- Kufor Rakeb SyndromePARK9