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McLeod neuroacanthocytosis syndrome

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description 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.
Uniprot Description A multisystem disorder characterized by the absence of red blood cell Kx antigen, weak expression of Kell red blood cell antigens, acanthocytosis, and compensated hemolysis. Most carriers of this McLeod blood group phenotype have acanthocytosis and elevated serum creatine kinase levels and are prone to develop a severe neurologic disorder resembling Huntington disease. Additional symptoms include generalized seizures, neuromuscular symptoms leading to weakness and atrophy, and cardiomyopathy mainly manifesting with atrial fibrillation, malignant arrhythmias, and dilated cardiomyopathy.
Mondo Term and Equivalent IDs
MONDO:0018945:  McLeod neuroacanthocytosis syndrome
GARD:0010731: 
MESH:C564038: 
Orphanet:59306: 
SCTID:234411007: