Developmental and epileptic encephalopathy 39 with leukodystrophy

Preferred Label : Developmental and epileptic encephalopathy 39 with leukodystrophy;

Symbol : DEE39;

CISMeF acronym : EIEE39;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hypomyelination, global cerebral; Agc1 deficiency; Aspartate-glutamate carrier 1 deficiency; EIEE39; Epileptic encephalopathy, early infantile, 39;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the solute carrier family 25 (mitochondrial carrier, aralar), member 12 gene (SLC25A12, 603667.0001);

Laboratory abnormalities : Increased plasma lactate;

Prefixed ID : #612949;

Details

Origin ID

612949;

UMLS CUI

C2751855;

Currated CISMeF NLP mapping
- Epileptic encephalopathy with global cerebral demyelination [ORDO Disease]
- Epileptic encephalopathy with global cerebral demyelination (disorder) [SNOMED CT concept]
- Mitochondrial aspartate glutamate carrier 1 deficiency [ICD-11 More detail]
- developmental and epileptic encephalopathy 39 [DO Concept]
- hypomyelination, global cerebral [MeSH concept]
- hypomyelination, global cerebral [MeSH Supplementary Concept]
DO Cross reference
- developmental and epileptic encephalopathy 39 [DO Concept]
Genes related to phenotype
- Solute carrier family 25 (mitochondrial carrier, aralar), member 12 [OMIM gene]
HPO term(s)
- Absent speech [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebral hypomyelination [HPO term]
- Epileptic encephalopathy [HPO term]
- Global developmental delay [HPO term]
- Hyperreflexia [HPO term]
- Infantile onset [HPO term]
- Poor eye contact [HPO term]
- Seizure [HPO term]
- Severe muscular hypotonia [HPO term]
- Spasticity [HPO term]
ORDO concept(s)
- Epileptic encephalopathy with global cerebral demyelination [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Epileptic encephalopathy with global cerebral demyelination [ORDO Disease]
- Mitochondrial aspartate glutamate carrier 1 deficiency [ICD-11 More detail]
- hypomyelination, global cerebral [MeSH Supplementary Concept]
- hypomyelination, global cerebral [MeSH concept]

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