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DEE72
MCID: DVL096
MIFTS: 22
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Developmental and Epileptic Encephalopathy 72 (DEE72)
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 72:
Characteristics:OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant
Miscellaneous:
onset in infancy variable severity de novo mutation two unrelated patients have been reported (last curated april 2019) HPO:31
developmental and epileptic encephalopathy 72:
Inheritance autosomal dominant inheritance Onset and clinical course variable expressivity infantile onset 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-72 (DEE72) is neurologic disorder characterized by the onset of infantile spasms around 5 months of age. The seizures tend to be refractory to treatment. EEG may show hypsarrhythmia, consistent with a clinical diagnosis of West syndrome. Affected individuals show severely delayed psychomotor development with impaired or absent walking and language skills. Additional more variable features include hyperkinetic movements and cortical visual impairment (summary by Sega et al., 2019).
For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350. (618374) (Updated 05-Mar-2021)
MalaCards based summary : Developmental and Epileptic Encephalopathy 72, is also known as developmental and epileptic encephalopathy, 72. An important gene associated with Developmental and Epileptic Encephalopathy 72 is NEUROD2 (Neuronal Differentiation 2). Affiliated tissues include eye, and related phenotypes are dysphagia and global developmental delay Disease Ontology : 12 A developmental and epileptic encephalopathy characterized by onset around 5 months of age of infantile spasms, hypsarrhythmia on EEG, and severely delayed psychomotor development with impaired or absent walking and language skills that has material basis in heterozygous mutation in NEUROD2 on chromosome 17q12. UniProtKB/Swiss-Prot : 73 Epileptic encephalopathy, early infantile, 72: A form of epileptic encephalopathy, a heterogeneous group of severe early-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. EIEE72 is an autosomal dominant form with variable severity and onset in infancy. |
Human phenotypes related to Developmental and Epileptic Encephalopathy 72:31 (show all 15)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:618374 (Updated 05-Mar-2021) |
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MalaCards organs/tissues related to Developmental and Epileptic Encephalopathy 72:40
Eye
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Articles related to Developmental and Epileptic Encephalopathy 72:
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Genes related to Developmental and Epileptic Encephalopathy 72 (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Developmental and Epileptic Encephalopathy 72:6
UniProtKB/Swiss-Prot genetic disease variations for Developmental and Epileptic Encephalopathy 72:73
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Search
GEO
for disease gene expression data for Developmental and Epileptic Encephalopathy 72.
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