Details of TYMP gene in Homo sapiens
Disease |
Disease |
OMIM id |
Mitochondrial DNA depletion syndrome 1 (MTDPS1) [MIM:603041]: A multisystem disease associated with mitochondrial dysfunction. It is clinically characterized by onset between the second and fifth decades of life, ptosis, progressive external ophthalmoplegia, gastrointestinal dysmotility (often pseudoobstruction), diffuse leukoencephalopathy, cachexia, peripheral neuropathy, and myopathy. Note=The disease is caused by mutations affecting the gene represented in this entry. |
603041 |
Phenotypes
Abdominal pain, Abdominal symptom, Abnormality of acid-base homeostasis, Abnormality of body weight, Abnormality of eye movement, Abnormality of metabolism/homeostasis, Abnormality of movement, Abnormality of muscle fibers, Abnormality of muscle morphology, Abnormality of muscle physiology, Abnormality of the abdomen, Abnormality of the abdominal organs, Abnormality of the central nervous system, Abnormality of the cerebral subcortex, Abnormality of the cerebral white matter, Abnormality of the cerebrum, Abnormality of the ear, Abnormality of the eye, Abnormality of the forebrain, Abnormality of the gastrointestinal tract, Abnormality of the inner ear, Abnormality of the intestine, Abnormality of the motor neurons, Abnormality of the musculature, Abnormality of the nervous system, Abnormality of the peripheral nervous system, Abnormality of the stomach, Acidosis, All, Amyotrophy, Areflexia, Autosomal recessive inheritance, Decreased activity of cytochrome C oxidase in muscle tissue, Decreased body weight, Depletion of mitochondrial DNA in muscle tissue, Diarrhea, Diminished movement, Distal amyotrophy, Distal muscle weakness, Distal sensory impairment, External ophthalmoplegia, Functional abnormality of the inner ear, Gastrointestinal dysmotility, Gastroparesis, Growth abnormality, Hearing abnormality, Hearing impairment, Hypodensity of cerebral white matter on MRI, Hypokinesia, Intermittent diarrhea, Lactic acidosis, Leukoencephalopathy, Malabsorption, Malnutrition, Mitochondrial myopathy, Mode of inheritance, Morphological abnormality of the central nervous system, Multiple mitochondrial DNA deletions, Muscle abnormality related to mitochondrial dysfunction, Muscle weakness, Nausea and vomiting, Ophthalmoparesis, Ophthalmoplegia, Peripheral neuropathy, Phenotypic abnormality, Progressive external ophthalmoplegia, Ptosis, Ragged-red muscle fibers, Reduced tendon reflexes, Sensorineural hearing impairment, Sensory impairment, Subsarcolemmal accumulations of abnormally shaped mitochondria, Vomiting, Weight loss.
Orthologs in other species |
M. musculus |
D. melonogaster |
C. elegans |
S. purpuratus |
Tymp | --- | --- | Sp-Tymp |