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infantile neuroaxonal dystrophy
(phenotype)
Summary
General Info
Genetic Markers
Most Correlated Genes
Most Correlated SNPs
PLA2G6
No SNPs found
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Pathway Enrichment
Most Correlated Biogroups
regulation of store-operated calcium channel activity
ATP-dependent protein binding
Patatin-like phospholipase domain
positive regulation of ceramide biosynthetic process
regulation of ceramide biosynthetic process
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Curated Studies
Most Correlated Studies
Mouse Phenotypes - Spastic syndrome
OMIM - Cerebral degeneration in childhood
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Literature
Most Relevant Literature
Mouse models of human INAD by Pla2g6 deficiency.
Recessive truncating NALCN mutation in infantile neuroaxonal dystrophy with facial dysmorphism.
MRI Findings in Patients with Clinical Onset Consistent with Infantile Neuroaxonal Dystrophy (INAD),…
Severe disturbance in the Ca2+ signaling in astrocytes from mouse models of human infantile neuroaxo…
Catalytic function of PLA2G6 is impaired by mutations associated with infantile neuroaxonal dystroph…
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Clinical Trials
Most Relevant Clinical Trials
Desipramine in Infantile Neuroaxonal Dystrophy (INAD).
Natural History of Infantile Neuroaxonal Dystrophy
A Natural History Study of Infantile Neuroaxonal Dystrophy
A Study to Assess Efficacy and Safety of RT001 in Subjects With Infantile Neuroaxonal Dystrophy
Phenotypic Description of Patients With Atypical Clinical Forms of PLA2G6 Mutations
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