dhtkd1 Phenotypes

Phenotypes

XB-GENEPAGE-980610

Gene Symbol: dhtkd1 Gene Name: dehydrogenase E1 and transketolase domain containing 1

Monarch Ortholog Phenotypes These phenotypes are associated with this gene with a has phenotype relation via Monarch.
Human (12 sources): Alpha-aminoadipic aciduria, Aminoaciduria, Attention deficit hyperactivity disorder, Delayed speech and language development, Difficulty walking, Generalized hypotonia, Global developmental delay, Hypotonia, Intellectual disability, mild, Microcephaly, Skeletal muscle atrophy, Somatic sensory dysfunction [+]
Mouse (26 sources): abnormal Schwann cell physiology, abnormal axon morphology, abnormal gastrocnemius morphology, abnormal motor capabilities/coordination/movement, abnormal myelin sheath morphology, abnormal neuromuscular synapse morphology, abnormal pancreatic islet morphology, abnormal sarcomere morphology, abnormal sciatic nerve morphology, behavior/neurological phenotype, decreased circulating glucose level, decreased circulating glycerol level, decreased myelin sheath thickness, impaired exercise endurance, improved glucose tolerance, increased Schwann cell number, increased circulating insulin-like growth factor I level, increased circulating lactate dehydrogenase level, increased circulating phospholipid level, increased insulin secretion, increased insulin sensitivity, increased mitochondrial size, increased respiratory quotient, increased thermal nociceptive threshold, muscular atrophy, tomacula [+]
View all ortholog results at Monarch