Developmental and epileptic encephalopathy 50

Preferred Label : Developmental and epileptic encephalopathy 50;

Symbol : DEE50;

CISMeF acronym : CDG1Z; EIEE50;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Congenital disorder of glycosylation, type iz; CDG1Z; EIEE50; Epileptic encephalopathy, early infantile, 50;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the carbamoyl phosphate synthetase/aspartate transcarbamoylase/dihydroorotase gene (CAD, 114010.0001);

Laboratory abnormalities : Hyperammonemia, mild (patient A); Red blood cell proteins show abnormal glycosylation (patient A); Serum transferrin glycosylation is normal;

Prefixed ID : #616457;

Details

Origin ID

616457;

UMLS CUI

C4225320;

Currated CISMeF NLP mapping
- CAD-CDG [ORDO Disease]
- Carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase congenital disorder of glycosylation (disorder) [SNOMED CT concept]
- Developmental and Epileptic Encephalopathy 50 [NCIt concept]
- developmental and epileptic encephalopathy 50 [DO Concept]
DO Cross reference
- developmental and epileptic encephalopathy 50 [DO Concept]
Genes related to phenotype
- Carbamoyl phosphate synthetase/aspartate transcarbamylase/dihydroorotase [OMIM gene]
HPO term(s)
- Abnormal glycosylation [HPO term]
- Acanthocytosis [HPO term]
- Anemia [HPO term]
- Anisopoikilocytosis [HPO term]
- Autosomal recessive inheritance [HPO term]
- Brain atrophy [HPO term]
- Broad-based gait [HPO term]
- Developmental regression [HPO term]
- Epileptic encephalopathy [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hyperammonemia [HPO term]
- Hypotonia [HPO term]
- Infantile onset [HPO term]
- Poor speech [HPO term]
- Progressive [HPO term]
- Renal tubular acidosis [HPO term]
- Schistocytosis [HPO term]
- Seizure [HPO term]
- Status epilepticus [HPO term]
ORDO concept(s)
- CAD-CDG [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- CAD-CDG [ORDO Disease]
- Carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase congenital disorder of glycosylation (disorder) [SNOMED CT concept]
- Developmental and Epileptic Encephalopathy 50 [NCIt concept]

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