Developmental and epileptic encephalopathy 5

Preferred Label : Developmental and epileptic encephalopathy 5;

Symbol : DEE5;

CISMeF acronym : EIEE5;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Epileptic encephalopathy, early infantile, 5; EIEE5;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the nonerythrocytic alpha-spectrin 1 gene (SPTAN1, 182810.0001);

Prefixed ID : #613477;

Details

Origin ID

613477;

UMLS CUI

C3150731;

Currated CISMeF NLP mapping
- developmental and epileptic encephalopathy 5 [DO Concept]
DO Cross reference
- developmental and epileptic encephalopathy 5 [DO Concept]
Genes related to phenotype
- Spectrin, alpha, nonerythrocytic 1 [OMIM gene]
HPO term(s)
- Atrophy/Degeneration affecting the brainstem [HPO term]
- Autosomal dominant inheritance [HPO term]
- CNS hypomyelination [HPO term]
- Cerebellar atrophy [HPO term]
- Cerebral atrophy [HPO term]
- Epileptic encephalopathy [HPO term]
- Generalized hypotonia [HPO term]
- Hyperreflexia [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hypotonia [HPO term]
- Hypsarrhythmia [HPO term]
- Infantile onset [HPO term]
- Intellectual disability, profound [HPO term]
- Intellectual disability, severe [HPO term]
- Microcephaly [HPO term]
- Progressive microcephaly [HPO term]
- Seizure [HPO term]
- Spastic tetraplegia [HPO term]
- Variable expressivity [HPO term]
ORDO concept(s)
- Infantile spasms syndrome [ORDO Disease]
See also inter- (CISMeF)
- Early Myoclonic Encephalopathy [NCIt concept]
- Early infantile epileptic encephalopathy [ORDO Disease]
- Early myoclonic encephalopathy [ORDO Disease]
- Early myoclonic encephalopathy (disorder) [SNOMED CT concept]
- early myoclonic encephalopathy [DO Concept]
- early myoclonic encephalopathy [SNOMED Notion]
- epileptic encephalopathy, early infantile, 3 [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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