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Glycosylphosphatidylinositol deficiency MeSH Supplementary Concept Data 2025


MeSH Supplementary
Glycosylphosphatidylinositol deficiency
Unique ID
C537277
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/C537277
Registry Numbers
0
Heading Mapped to
*Seizures
Glycosylphosphatidylinositols / deficiency
Frequency
48
Note
A rare autosomal recessive disorder caused by mutation in the PIGM gene. Affected individuals present with seizures beginning in early childhood, hepatic and portal vein THROMBOSIS; SPLENOMEGALY, and decreased expression of GPI-LINKED PROTEINS. OMIM: 610293
Date of Entry
2010/08/25
Revision Date
2018/11/28
Glycosylphosphatidylinositol deficiency Preferred
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