Developmental and epileptic encephalopathy 51

Preferred Label : Developmental and epileptic encephalopathy 51;

Symbol : DEE51;

CISMeF acronym : EIEE51;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : EIEE51; Epileptic encephalopathy, early infantile, 51;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the mitochondrial malate dehydrogenase gene (MDH2, 154100.0001);

Laboratory abnormalities : Increased CSF lactate; Variable and mild decrease in mitochondrial respiratory activity in muscle, liver, or fibroblasts (in some patients); Increased serum lactate; Increased levels of fumarate or malate;

Prefixed ID : #617339;

Details

Origin ID

617339;

UMLS CUI

C4479208;

Currated CISMeF NLP mapping
- developmental and epileptic encephalopathy 51 [DO Concept]
DO Cross reference
- developmental and epileptic encephalopathy 51 [DO Concept]
Genes related to phenotype
- Malate dehydrogenase, mitochondrial [OMIM gene]
HPO term(s)
- Abnormal pyramidal sign [HPO term]
- Absent speech [HPO term]
- Autosomal recessive inheritance [HPO term]
- Babinski sign [HPO term]
- Cerebellar atrophy [HPO term]
- Constipation [HPO term]
- Delayed myelination [HPO term]
- Dystonia [HPO term]
- Epileptic encephalopathy [HPO term]
- Failure to thrive [HPO term]
- Feeding difficulties [HPO term]
- Global developmental delay [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hyporeflexia [HPO term]
- Inability to walk [HPO term]
- Increased CSF lactate [HPO term]
- Increased serum lactate [HPO term]
- Poor head control [HPO term]
- Rod-cone dystrophy [HPO term]
- Seizure [HPO term]
- Skeletal muscle atrophy [HPO term]
- Strabismus [HPO term]
- Supernumerary nipple [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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