Details of Disease | DrugMAP

General Information of Disease (ID: DISA8FUX)

Disease Name	McLeod neuroacanthocytosis syndrome
Synonyms	neuroacanthocytosis, McLeod type; MCLDS; McLeod phenotype; McLeod syndrome with chronic granulomatous disease; X-linked McLeod syndrome; MLS; mcleod syndrome with or without chronic granulomatous disease; McLeod syndrome
Definition	A form of neuroacanthocytosis and is characterized clinically by a Huntington's disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens.
Disease Hierarchy	DISUSDSN: Neuroacanthocytosis DISA8FUX: McLeod neuroacanthocytosis syndrome
Disease Identifiers	MONDO ID MONDO_0018945 MESH ID C564038 UMLS CUI C0398568 OMIM ID 300842 MedGen ID 140765 Orphanet ID 59306 SNOMED CT ID 234411007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
XK	OTRR474Z	Strong	X-linked	[1]
KEL	OT47DJW0	Strong	Genetic Variation	[2]
PIK3C2A	OTFBU4GD	Strong	Genetic Variation	[3]
------------------------------------------------------------------------------------

References

1	McLeod neuroacanthocytosis: genotype and phenotype. Ann Neurol. 2001 Dec;50(6):755-64. doi: 10.1002/ana.10035.
2	An individual with McLeod syndrome and the Kell blood group antigen K(K1).Transfusion. 1983 Jul-Aug;23(4):336-8. doi: 10.1046/j.1537-2995.1983.23483276871.x.
3	A novel XK gene mutation in a Taiwanese family with McLeod syndrome.J Neurol Sci. 2014 May 15;340(1-2):221-4. doi: 10.1016/j.jns.2014.02.027. Epub 2014 Feb 27.