npc2 Phenotypes

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Phenotypes

Gene Literature (0)

Nucleotides (237)

Interactants (14)

XB-GENEPAGE-6258063

Gene Symbol: npc2 Gene Name: Niemann-Pick disease, type C2

Expression Phenotypes Gene expression phenotype annotations where the gene of interest has been disrupted (manipulated) or is the gene assayed (assayed). Computed annotations are derived from differential expression analysis from Xenbase processed GEO data with the criteria of a TPM >= 1, FDR <= 0.05 and an absolute LogFC >= 2.
Computed annotations: npc2 assayed (2 sources)

Monarch Ortholog Phenotypes These phenotypes are associated with this gene with a has phenotype relation via Monarch.
Human (29 sources): Abnormal circulating cholesterol concentration, Ataxia, Bone-marrow foam cells, CNS foam cells, Cataplexy, Dementia, Dysarthria, Dysphagia, Dystonia, Fetal ascites, Foam cells, Generalized hypotonia, Global developmental delay, Hepatomegaly, Hypotonia, Intellectual disability, Loss of speech, Low cholesterol esterification rate, Motor stereotypy, Neurofibrillary tangles, Perseveration, Prolonged neonatal jaundice, Psychosis, Respiratory insufficiency, Sea-blue histiocytosis, Seizure, Spasticity, Splenomegaly, Vertical supranuclear gaze palsy [+]
Mouse (20 sources): Purkinje cell degeneration, abnormal alveolar macrophage morphology, abnormal circulating potassium level, abnormal lipid homeostasis, abnormal lipid level, abnormal locomotor behavior, abnormal lung vasculature morphology, abnormal lysosome morphology, abnormal surfactant composition, abnormal type II pneumocyte morphology, decreased Purkinje cell number, increased alveolar lamellar body number, increased cholesterol level, increased liver cholesterol level, increased lung weight, lipidosis, premature death, small adrenal glands, small alveolar lamellar bodies, thick pulmonary interalveolar septum [+]
View all ortholog results at Monarch