LEPID
MCID: LKN032
MIFTS: 19
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Leukoencephalopathy, Progressive, Infantile-Onset, with or Without Deafness (LEPID)
Categories:
Ear diseases, Genetic diseases, Neuronal diseases
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MalaCards integrated aliases for Leukoencephalopathy, Progressive, Infantile-Onset, with or Without Deafness:
Name: Leukoencephalopathy, Progressive, Infantile-Onset, with or Without Deafness
57
Characteristics:OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive
Miscellaneous:
progressive disorder onset in infancy or early childhood neurologic regression associated with infection or fever premature death is common Classifications: |
OMIM® :
57
Infantile-onset progressive leukoencephalopathy with or without deafness (LEPID) is an autosomal recessive complex neurodegenerative disorder with onset of symptoms in infancy or early childhood. Most patients present with sensorineural deafness or hypoacousia and global developmental delay. Affected individuals show episodic regression with progressive motor deterioration resulting in spastic tetraplegia and loss of ambulation, as well as impaired intellectual development with poor or absent speech. Additional more variable features may include poor overall growth with microcephaly, seizures, visual loss, microcytic anemia, and hepatic enlargement or abnormal liver enzymes. Brain imaging shows deep white matter abnormalities consistent with a progressive leukoencephalopathy. The brain and spinal cord are usually both involved; calcifications of these regions are often observed. Laboratory studies show increased serum lactate and deficiencies of mitochondrial respiratory chain complexes, consistent with global mitochondrial dysfunction. Early death often occurs (summary by Itoh et al., 2019). (619147) (Updated 05-Mar-2021)
MalaCards based summary : Leukoencephalopathy, Progressive, Infantile-Onset, with or Without Deafness, also known as lepid, is related to hereditary mixed polyposis syndrome and eye disease. An important gene associated with Leukoencephalopathy, Progressive, Infantile-Onset, with or Without Deafness is KARS1 (Lysyl-TRNA Synthetase 1). Affiliated tissues include spinal cord, brain and liver. |
Diseases related to Leukoencephalopathy, Progressive, Infantile-Onset, with or Without Deafness via text searches within MalaCards or GeneCards Suite gene sharing:
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Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:619147 (Updated 05-Mar-2021) |
Interventional clinical trials:
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MalaCards organs/tissues related to Leukoencephalopathy, Progressive, Infantile-Onset, with or Without Deafness:40
Spinal Cord,
Brain,
Liver,
Skin
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Articles related to Leukoencephalopathy, Progressive, Infantile-Onset, with or Without Deafness:(show all 20)
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Search
GEO
for disease gene expression data for Leukoencephalopathy, Progressive, Infantile-Onset, with or Without Deafness.
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