Developmental and epileptic encephalopathy 35

Preferred Label : Developmental and epileptic encephalopathy 35;

Symbol : DEE35;

CISMeF acronym : EIEE35;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Epileptic encephalopathy, early infantile, 35; EIEE35;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the inosine triphosphatase gene (ITPA, 147520.0003);

Prefixed ID : #616647;

Détails

Origin ID

616647;

UMLS CUI

C4225256;

Currated CISMeF NLP mapping
- ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement [ORDO Disease]
- Inosine triphosphate pyrophosphohydrolase-related lethal infantile neurological disorder with cataract and cardiac involvement (disorder) [SNOMED CT concept]
- developmental and epileptic encephalopathy 35 [DO Concept]
DO Cross reference
- developmental and epileptic encephalopathy 35 [DO Concept]
Genes related to phenotype
- Inosine triphosphatase [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Brain atrophy [HPO term]
- Cardiomyopathy [HPO term]
- Cataract [HPO term]
- Cerebral atrophy [HPO term]
- Death in infancy [HPO term]
- Delayed CNS myelination [HPO term]
- Encephalopathy [HPO term]
- Feeding difficulties [HPO term]
- Global developmental delay [HPO term]
- High pitched voice [HPO term]
- Infantile onset [HPO term]
- Intrauterine growth retardation [HPO term]
- Irritability [HPO term]
- Limb tremor [HPO term]
- Microcephaly [HPO term]
- Seizure [HPO term]
- Severe muscular hypotonia [HPO term]
- Status epilepticus [HPO term]
ORDO concept(s)
- ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Inosine triphosphate pyrophosphohydrolase-related lethal infantile neurological disorder with cataract and cardiac involvement (disorder) [SNOMED CT concept]

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