Developmental and epileptic encephalopathy 53

Preferred Label : Developmental and epileptic encephalopathy 53;

Symbol : DEE53;

CISMeF acronym : EIEE53;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : EIEE53; Epileptic encephalopathy, early infantile, 53;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the synaptojanin 1 gene (SYNJ1, 604297.0003);

Laboratory abnormalities : Increased serum creatine kinase (family A); Decreased activities of mitochondrial respiratory complexes III and IV in liver and fibroblasts (family A); Increased serum lactate (family A);

Prefixed ID : #617389;

Details

Origin ID

617389;

UMLS CUI

C4479313;

Currated CISMeF NLP mapping
- developmental and epileptic encephalopathy 53 [DO Concept]
DO Cross reference
- developmental and epileptic encephalopathy 53 [DO Concept]
Genes related to phenotype
- Synaptojanin 1 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Epileptic encephalopathy [HPO term]
- Feeding difficulties [HPO term]
- Generalized hypotonia [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hypsarrhythmia [HPO term]
- Increased serum lactate [HPO term]
- Intellectual disability, profound [HPO term]
- Progressive neurologic deterioration [HPO term]
- Seizure [HPO term]
- Spastic tetraplegia [HPO term]
- Status epilepticus [HPO term]
- Visual impairment [HPO term]
ORDO concept(s)
- Early infantile epileptic encephalopathy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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