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DEE16
MCID: DVL044
MIFTS: 38
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Developmental and Epileptic Encephalopathy 16 (DEE16)
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 16:
Characteristics:Orphanet epidemiological data:58
progressive myoclonic epilepsy with dystonia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive
Miscellaneous:
progressive disorder onset in early infancy high frequency seizures seizures may be triggered by infection seizures are refractory to medication most patients die in childhood HPO:31
developmental and epileptic encephalopathy 16:
Inheritance autosomal recessive inheritance Onset and clinical course progressive 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
ICD10:
33
Orphanet: 58
Rare neurological diseases |
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OMIM® :
57
Developmental and epileptic encephalopathy-16 (DEE16) is a severe autosomal recessive neurologic disorder characterized by the onset of seizures in the first weeks or months of life. Seizures can be of various types, are unresponsive to medication, last for long periods of time, and occur frequently. Affected infants show psychomotor regression or lack of psychomotor development, as well as other neurologic features such as extrapyramidal signs and hypotonia. Most die in childhood (summary by Duru et al., 2010 and Milh et al., 2013).
For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350. (615338) (Updated 05-Mar-2021)
MalaCards based summary : Developmental and Epileptic Encephalopathy 16, also known as early infantile epileptic encephalopathy 16, is related to myoclonic epilepsy of unverricht and lundborg and epilepsy, and has symptoms including myoclonus, abnormality of extrapyramidal motor function and hemiparesis. An important gene associated with Developmental and Epileptic Encephalopathy 16 is TBC1D24 (TBC1 Domain Family Member 24). The drug Vaccines has been mentioned in the context of this disorder. Affiliated tissues include eye, and related phenotypes are abnormal pyramidal sign and recurrent upper respiratory tract infections Disease Ontology : 12 A developmental and epileptic encephalopathy characterized by seizure onset in the first weeks or months of life, delayed or regression of psychomotor development, and hypotonia that has material basis in homozygous or compound heterozygous mutation in the TBC1D24 gene on chromosome 16p13. UniProtKB/Swiss-Prot : 73 Epileptic encephalopathy, early infantile, 16: A severe autosomal recessive neurologic disorder characterized by onset of seizures in the first weeks or months of life. Seizures can be of various types, are unresponsive to medication, last for long periods of time, and occur frequently. Affected infants show psychomotor regression or lack of psychomotor development, as well as other neurologic features such as extrapyramidal signs and hypotonia. Most die in childhood. |
Human phenotypes related to Developmental and Epileptic Encephalopathy 16:58 31 (show all 31)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:615338 (Updated 05-Mar-2021)UMLS symptoms related to Developmental and Epileptic Encephalopathy 16:myoclonus, abnormality of extrapyramidal motor function, hemiparesis, unspecified visual loss GenomeRNAi Phenotypes related to Developmental and Epileptic Encephalopathy 16 according to GeneCards Suite gene sharing:26
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Drugs for Developmental and Epileptic Encephalopathy 16 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):
Interventional clinical trials:
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MalaCards organs/tissues related to Developmental and Epileptic Encephalopathy 16:40
Eye
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Articles related to Developmental and Epileptic Encephalopathy 16:
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Genes related to Developmental and Epileptic Encephalopathy 16 (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Developmental and Epileptic Encephalopathy 16:6 (show all 11)
UniProtKB/Swiss-Prot genetic disease variations for Developmental and Epileptic Encephalopathy 16:73
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Search
GEO
for disease gene expression data for Developmental and Epileptic Encephalopathy 16.
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Biological processes related to Developmental and Epileptic Encephalopathy 16 according to GeneCards Suite gene sharing:
Molecular functions related to Developmental and Epileptic Encephalopathy 16 according to GeneCards Suite gene sharing:
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