Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0026838 (
spasticity
)
6,471
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Intellectual disability (ID), a genetically and clinically heterogeneous disorder, affects 1%-3% of the general population and is a major health problem, especially in developing countries and in populations with a high frequency of consanguineous marriage. Using whole exome sequencing, a homozygous missense variation (c.3264G>C, p.W1088C) in a plausible disease causing gene,
GPR126
, was identified in two patients presenting with profound ID, severe speech impairment, microcephaly, seizures during infancy, and
spasticity
accompanied by cerebellar hypoplasia. The role of
GPR126
in radial sorting and myelination in Schwann cells suggests a mechanism of pathogenesis for ID. Involvement of
GPR126
in lethal congenital contracture syndrome 9 has been identified previously, but this is the first report of a plausible candidate gene,
GPR126
, in ID.
...
PMID:GPR126: A novel candidate gene implicated in autosomal recessive intellectual disability. 3054 16
