ctsd Phenotypes

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Phenotypes

Gene Literature (5)

Nucleotides (251)

Interactants (144)

XB-GENEPAGE-5906944

Gene Symbol: ctsd Gene Name: cathepsin D

Monarch Ortholog Phenotypes These phenotypes are associated with this gene with a has phenotype relation via Monarch.
Human (23 sources): Abnormality of metabolism/homeostasis, Apnea, Ataxia, Cerebellar atrophy, Cerebral atrophy, Increased neuronal autofluorescent lipopigment, Intellectual disability, progressive, Intellectual disability, severe, Low-set ears, Mental deterioration, Microcephaly, Neuronal loss in central nervous system, Premature closure of fontanelles, Respiratory insufficiency, Retinal atrophy, Rigidity, Rod-cone dystrophy, Sensory axonal neuropathy, Sloping forehead, Spasticity, Status epilepticus, Visual loss, Wide nasal bridge [+]
Mouse (35 sources): abnormal antigen presentation, abnormal cochlear ganglion morphology, abnormal crypts of Lieberkuhn morphology, abnormal hair cycle, abnormal intestinal mucosa morphology, abnormal mean corpuscular hemoglobin concentration, abnormal microglial cell morphology, abnormal spleen B cell follicle morphology, abnormal spleen white pulp morphology, abnormal stomach wall morphology, abnormal thrombosis, abnormal thymus morphology, axonal dystrophy, cellular phenotype, deafness, decreased blood urea nitrogen level, decreased double-positive T cell number, decreased food intake, decreased small intestinal villus height, hippocampal neuron degeneration, increased circulating aspartate transaminase level, increased forebrain apoptosis, increased mean corpuscular hemoglobin concentration, increased or absent threshold for auditory brainstem response, lethality at weaning, complete penetrance, lysosomal protein accumulation, microgliosis, neuron degeneration, premature death, prenatal lethality, incomplete penetrance, preweaning lethality, incomplete penetrance, retina photoreceptor degeneration, thymus atrophy, tonic seizures, weakness [+]
View all ortholog results at Monarch