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DEE28
MCID: DVL054
MIFTS: 32
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Developmental and Epileptic Encephalopathy 28 (DEE28)
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 28:
Characteristics:OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive
Miscellaneous:
variable severity onset in first months of life premature death may occur HPO:31
developmental and epileptic encephalopathy 28:
Inheritance autosomal recessive 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-28 (DEE28) is an autosomal recessive severe neurologic disorder characterized by the onset of refractory seizures in the first months of life. Affected individuals have severe axial hypotonia and profoundly impaired psychomotor development. More severely affected patients have acquired microcephaly, poor or absent visual contact, and retinal degeneration; early death may occur (summary by Mignot et al., 2015).
For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350. (616211) (Updated 05-Mar-2021)
MalaCards based summary : Developmental and Epileptic Encephalopathy 28, also known as epileptic encephalopathy, early infantile, 28, is related to colon small cell carcinoma, and has symptoms including muscle rigidity and muscle spasticity. An important gene associated with Developmental and Epileptic Encephalopathy 28 is WWOX (WW Domain Containing Oxidoreductase). Related phenotypes are optic atrophy and abnormal electroretinogram Disease Ontology : 12 A developmental and epileptic encephalopathy characterized by onset in the first months of life of refractory seizures, severe axial hypotonia, and profoundly impaired psychomotor development that has material basis in homozygous or compound heterozygous mutation in the WWOX gene on chromosome 16q23. UniProtKB/Swiss-Prot : 73 Epileptic encephalopathy, early infantile, 28: 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 28:31 (show all 15)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:616211 (Updated 05-Mar-2021)UMLS symptoms related to Developmental and Epileptic Encephalopathy 28:muscle rigidity, muscle spasticity GenomeRNAi Phenotypes related to Developmental and Epileptic Encephalopathy 28 according to GeneCards Suite gene sharing:26
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Articles related to Developmental and Epileptic Encephalopathy 28:
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Genes related to Developmental and Epileptic Encephalopathy 28 (2 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Developmental and Epileptic Encephalopathy 28:6 (show all 36)
UniProtKB/Swiss-Prot genetic disease variations for Developmental and Epileptic Encephalopathy 28:73
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Search
GEO
for disease gene expression data for Developmental and Epileptic Encephalopathy 28.
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Biological processes related to Developmental and Epileptic Encephalopathy 28 according to GeneCards Suite gene sharing:
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