LEUDEN
MCID: LKN030
MIFTS: 24
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Leukoencephalopathy, Developmental Delay, and Episodic Neurologic Regression Syndrome (LEUDEN)
Categories:
Genetic diseases, Mental diseases, Neuronal diseases
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Aliases & Classifications for Leukoencephalopathy, Developmental Delay, and Episodic Neurologic...
MalaCards integrated aliases for Leukoencephalopathy, Developmental Delay, and Episodic Neurologic Regression Syndrome:
Name: Leukoencephalopathy, Developmental Delay, and Episodic Neurologic Regression Syndrome
57
73
28
5
38
Characteristics:Inheritance:
Autosomal dominant 57
OMIM®:57 (Updated 08-Dec-2022)
Miscellaneous:
onset in infancy progressive disorder de novo mutation episodic neurologic regression is associated with fever or illness Classifications: |
OMIM®: 57 Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome (LEUDEN) is characterized by global developmental delay apparent in early childhood, followed by episodic neurologic regression or decompensation associated with systemic stress, such as febrile infection. Affected individuals have hypotonia, gait difficulties or ataxia, poor or absent speech with dysarthria, and variable motor abnormalities, including spasticity, dystonia, extrapyramidal signs, and tremor. Many patients have seizures. Brain imaging shows diffuse white matter abnormalities, poor myelination, thin corpus callosum, and generalized cerebral atrophy with enlarged ventricles. The clinical features of the disorder and the abnormal brain imaging findings are progressive (summary by Mao et al., 2020). (618877) (Updated 08-Dec-2022) MalaCards based summary: Leukoencephalopathy, Developmental Delay, and Episodic Neurologic Regression Syndrome, is also known as leuden syndrome. An important gene associated with Leukoencephalopathy, Developmental Delay, and Episodic Neurologic Regression Syndrome is EIF2AK2 (Eukaryotic Translation Initiation Factor 2 Alpha Kinase 2). Affiliated tissues include brain and spinal cord, and related phenotypes are seizure and spasticity UniProtKB/Swiss-Prot: 73 An autosomal dominant disorder characterized by global developmental delay apparent in early childhood, cognitive impairment, ataxia, poor or absent speech with dysarthria, hypotonia, hypertonia, extrapyramidal signs, tremor, and abnormal involuntary movements. Affected individuals also exhibit neurological regression in the setting of febrile illness or infection. Many patients have seizures. Brain imaging shows diffuse white matter abnormalities with poor myelination. |
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Symptoms & Phenotypes for Leukoencephalopathy, Developmental Delay, and Episodic Neurologic...
Human phenotypes related to Leukoencephalopathy, Developmental Delay, and Episodic Neurologic Regression Syndrome:30 (show all 25)
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:618877 (Updated 08-Dec-2022) |
Drugs & Therapeutics for Leukoencephalopathy, Developmental Delay, and Episodic Neurologic...
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Organs/tissues related to Leukoencephalopathy, Developmental Delay, and Episodic Neurologic Regression Syndrome:
MalaCards :
Brain,
Spinal Cord
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Articles related to Leukoencephalopathy, Developmental Delay, and Episodic Neurologic Regression Syndrome:
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ClinVar genetic disease variations for Leukoencephalopathy, Developmental Delay, and Episodic Neurologic Regression Syndrome:5 (show all 12)
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Search
GEO
for disease gene expression data for Leukoencephalopathy, Developmental Delay, and Episodic Neurologic Regression Syndrome.
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