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encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1
Disease Summary
Associated Targets (1)
Tchem
1
Uniprot Description A rare autosomal dominant systemic disorder resulting in lack of neurologic development and death in infancy. After birth, infants present in the first week of life with poor feeding and neurologic impairment, including hypotonia, little spontaneous movement, no tendon reflexes, no response to light stimulation, and poor visual fixation. Other features include mildly elevated plasma concentration of very-long-chain fatty acids, lactic acidosis, microcephaly, deep-set eyes, optic atrophy and hypoplasia, and an abnormal gyral pattern in both frontal lobes associated with dysmyelination.
Mondo Term and Equivalent IDs
MONDO:0013726: encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0070347
OMIM:614388
Orphanet:330050
UMLS:C3280660
MONDO:0013726
High level summary of knowledge for a disease, including descriptions and datasource references.