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DEE71
MCID: DVL095
MIFTS: 22
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Developmental and Epileptic Encephalopathy 71 (DEE71)
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 71:
Characteristics:OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive
Miscellaneous:
onset at birth death in first weeks of life two unrelated families have been reported (last curated february 2019) HPO:31
developmental and epileptic encephalopathy 71:
Inheritance autosomal recessive inheritance Onset and clinical course congenital onset Classifications:
MalaCards categories:
Global: Genetic diseases Metabolic diseases Rare diseases Fetal diseases Cancer diseases Anatomical: Neuronal diseases Eye diseases Liver diseases Ear diseases Respiratory diseases Mental diseases
Orphanet: 58
Rare neurological diseases
Inborn errors of metabolism |
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UniProtKB/Swiss-Prot :
73
Epileptic encephalopathy, early infantile, 71: 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. EIEE71 is an autosomal recessive form with onset at birth. Death occurs in first weeks of life.
MalaCards based summary : Developmental and Epileptic Encephalopathy 71, also known as glutaminase deficiency with neonatal epileptic encephalopathy, is related to infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development. An important gene associated with Developmental and Epileptic Encephalopathy 71 is GLS (Glutaminase). Affiliated tissues include brain, and related phenotypes are neonatal hypotonia and respiratory failure Disease Ontology : 12 A developmental and epileptic encephalopathy characterized by early neonatal refractory seizures, respiratory failure, structural brain abnormalities and cerebral edema, with death within weeks after birth that has material basis in homozygous or compound heterozygous mutation in GLS on chromosome 2q32.2. OMIM® : 57 Developmental and epileptic encephalopathy-71 (DEE71) is characterized by early neonatal refractory seizures, respiratory failure, structural brain abnormalities and cerebral edema, with death within weeks after birth. Glutamine levels are significantly increased (z score 3.2-11.7). Three patients have been described (summary by Rumping et al., 2019). (618328) (Updated 05-Mar-2021) |
Human phenotypes related to Developmental and Epileptic Encephalopathy 71:31
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:618328 (Updated 05-Mar-2021) |
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MalaCards organs/tissues related to Developmental and Epileptic Encephalopathy 71:40
Brain
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Articles related to Developmental and Epileptic Encephalopathy 71:
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Genes related to Developmental and Epileptic Encephalopathy 71 (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Developmental and Epileptic Encephalopathy 71:6
UniProtKB/Swiss-Prot genetic disease variations for Developmental and Epileptic Encephalopathy 71:73
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Search
GEO
for disease gene expression data for Developmental and Epileptic Encephalopathy 71.
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