Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1

Preferred Label : Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1;

Symbol : PEBEL1;

CISMeF acronym : PEBEL; PEBEL1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : PEBEL;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the NAD(P)HX epimerase gene (NAXE, 608862.0001);

Laboratory abnormalities : Increased CSF lactate; Increased serum lactate;

Prefixed ID : #617186;

Details

Origin ID

617186;

UMLS CUI

C4310675;

Currated CISMeF NLP mapping
- NAD(P)HX epimerase deficiency [ORDO Disease]
- NAD(P)HX epimerase deficiency (disorder) [SNOMED CT concept]
Genes related to phenotype
- Nad(p)hx epimerase [OMIM gene]
HPO term(s)
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Brain atrophy [HPO term]
- Cerebellar edema [HPO term]
- Cerebral edema [HPO term]
- Coma [HPO term]
- Death in infancy [HPO term]
- Developmental regression [HPO term]
- Encephalopathy [HPO term]
- Generalized hypotonia [HPO term]
- Increased CSF lactate [HPO term]
- Increased serum lactate [HPO term]
- Lactic acidosis [HPO term]
- Leukoencephalopathy [HPO term]
- Myelopathy [HPO term]
- Nystagmus [HPO term]
- Rapidly progressive [HPO term]
- Respiratory failure [HPO term]
- Seizure [HPO term]
- Skin erosion [HPO term]
- Strabismus [HPO term]
- Tetraparesis [HPO term]
- Tremor [HPO term]
ORDO concept(s)
- NAD(P)HX epimerase deficiency [ORDO Disease]
See also inter- (CISMeF)
- NAXE wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- NAD(P)HX epimerase deficiency (disorder) [SNOMED CT concept]

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