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DEE27
MCID: DVL053
MIFTS: 31
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Developmental and Epileptic Encephalopathy 27 (DEE27)
Categories:
Cancer diseases, Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Respiratory diseases
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MalaCards integrated aliases for Developmental and Epileptic Encephalopathy 27:
Characteristics:OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant
Miscellaneous:
de novo mutation highly variable severity onset in first weeks or months of life HPO:31
developmental and epileptic encephalopathy 27:
Inheritance autosomal dominant inheritance Onset and clinical course variable expressivity Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Fetal diseases Cancer diseases Anatomical: Neuronal diseases Eye diseases Liver diseases Ear diseases Respiratory diseases Mental diseases |
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OMIM® :
57
Developmental and epileptic encephalopathy-27 (DEE27) is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development and intellectual disability of variable severity associated with early-onset seizures. Additional features may include hypotonia, abnormal movements, such as dystonia, and autistic features. Some patients may have structural malformations of cortical development on brain imaging. The phenotype is highly variable and reflects a spectrum of neurodevelopmental abnormalities that range from mild intellectual disability without seizures to an encephalopathy (summary by Platzer et al., 2017).
For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350. (616139) (Updated 05-Mar-2021)
MalaCards based summary : Developmental and Epileptic Encephalopathy 27, also known as epileptic encephalopathy, early infantile, 27, is related to grin2b-related neurodevelopmental disorder and mental retardation, autosomal dominant 6, with or without seizures, and has symptoms including seizures An important gene associated with Developmental and Epileptic Encephalopathy 27 is GRIN2B (Glutamate Ionotropic Receptor NMDA Type Subunit 2B). Related phenotypes are microcephaly and intellectual disability Disease Ontology : 12 A developmental and epileptic encephalopathy characterized by early onset seizures, delayed psychomotor development and intellectual disability with variable severity that has material basis in heterozygous mutation in the GRIN2B gene on chromosome 12p12. UniProtKB/Swiss-Prot : 73 Epileptic encephalopathy, early infantile, 27: A form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. |
Human phenotypes related to Developmental and Epileptic Encephalopathy 27:31 (show all 12)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:616139 (Updated 05-Mar-2021)UMLS symptoms related to Developmental and Epileptic Encephalopathy 27:seizures GenomeRNAi Phenotypes related to Developmental and Epileptic Encephalopathy 27 according to GeneCards Suite gene sharing:26
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Articles related to Developmental and Epileptic Encephalopathy 27:
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Genes related to Developmental and Epileptic Encephalopathy 27 (2 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Developmental and Epileptic Encephalopathy 27:6 (show top 50) (show all 262)
UniProtKB/Swiss-Prot genetic disease variations for Developmental and Epileptic Encephalopathy 27:73
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Search
GEO
for disease gene expression data for Developmental and Epileptic Encephalopathy 27.
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