H00655 | |
H number | H00655 |
Name | McLeod syndrome |
Description | McLeod syndrome is an X-linked multisystem disorder including the CNS (chorea, epilepsy), the PNS (axonal polyneuropathy), and the blood cells (acanthocytosis of the erythrocytes) characterized by late onset abnormalities in the neuromuscular and hematopoietic systems. Mild myopathy is a common manifestation in most cases. Patients often present with mild, asymptomatic hyperCKemia. The absence of the membrane transport protein XK seems to be causative. |
Category | Nervous system disease |
Network | - |
Gene | (MCLDS) XK [HSA:7504] [KO:K19522] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: 8A01.1Y ICD-10: G10 MeSH: C564038 OMIM: 300842 |
Reference | PMID:18273731 AUTHORS Finsterer J, Stollberger C TITLE Primary myopathies and the heart. JOURNAL Scand Cardiovasc J 42:9-24 (2008) DOI:10.1080/14017430701854953 PMID:8004674 AUTHORS Ho M, Chelly J, Carter N, Danek A, Crocker P, Monaco AP TITLE Isolation of the gene for McLeod syndrome that encodes a novel membrane transport protein. JOURNAL Cell 77:869-80 (1994) DOI:10.1016/0092-8674(94)90136-8 |