Kufor–Rakeb syndrome

Kufor–Rakeb syndrome
Classification and external resources
OMIM	606693

Kufor–Rakeb syndrome is an autosomal recessive disorder.^[1]

It can be associated with ATP13A2

References

↑ Williams DR, Hadeed A, al-Din AS, Wreikat AL, Lees AJ (October 2005). "Kufor–Rakeb disease: autosomal recessive, levodopa-responsive parkinsonism with pyramidal degeneration, supranuclear gaze palsy, and dementia". Mov. Disord. 20 (10): 1264–71. doi:10.1002/mds.20511. PMID 15986421.

Genetic disorder, membrane: ATPase disorders

ATP1	ATP1A2 (Alternating hemiplegia of childhood)

ATP2	ATP2A1 (Brody myopathy) ATP2A2 (Darier's disease, Acrokeratosis verruciformis) ATP2C1 (Hailey–Hailey disease)

ATP7	ATP7A (Menkes disease) ATP7B (Wilson's disease)

ATP13	ATP13A2 (Kufor–Rakeb syndrome)

Other	Osteopetrosis B1

see also ATPase

This article is issued from Wikipedia - version of the 5/27/2016. The text is available under the Creative Commons Attribution/Share Alike but additional terms may apply for the media files.