Developmental and epileptic encephalopathy 71

Preferred Label : Developmental and epileptic encephalopathy 71;

Symbol : DEE71;

CISMeF acronym : EIEE71;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Glutaminase deficiency with neonatal epileptic encephalopathy; EIEE71; Epileptic encephalopathy, early infantile, 71;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the glutaminase gene (GLS, 138280.0001);

Laboratory abnormalities : Newborn Guthrie card shows increased glutamine;

Prefixed ID : #618328;

Details

Origin ID

618328;

UMLS CUI

C5193030;

Currated CISMeF NLP mapping
- Neonatal epileptic encephalopathy due to deficiency of glutaminase (disorder) [SNOMED CT concept]
- Neonatal epileptic encephalopathy due to glutaminase deficiency [ORDO Disease]
- developmental and epileptic encephalopathy 71 [DO Concept]
Genes related to phenotype
- Glutaminase [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Congenital onset [HPO term]
- Epileptic encephalopathy [HPO term]
- Neonatal hypotonia [HPO term]
- Respiratory failure [HPO term]
- Respiratory insufficiency [HPO term]
- Seizure [HPO term]
ORDO concept(s)
- Neonatal epileptic encephalopathy due to glutaminase deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Neonatal epileptic encephalopathy due to deficiency of glutaminase (disorder) [SNOMED CT concept]

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