Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2

Preferred Label : Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2;

Symbol : PEBEL2;

CISMeF acronym : PEBEL2;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the NAD(P)HX dehydratase gene (NAXD, 615910.0001);

Laboratory abnormalities : Patient cells may show abnormalities in mitochondrial respiration;

Prefixed ID : #618321;

Details

Origin ID

618321;

UMLS CUI

C5193026;

Currated CISMeF NLP mapping
- Early-Onset Progressive Encephalopathy with Brain Edema and/or Leukoencephalopathy 2 [NCIt concept]
- NAD(P)HX dehydratase deficiency [ORDO Disease]
- NAD(P)HX dehydratase deficiency (disorder) [SNOMED CT concept]
Genes related to phenotype
- Nad(p)hx dehydratase [OMIM gene]
HPO term(s)
- Abnormal blistering of the skin [HPO term]
- Abnormal cerebral white matter morphology [HPO term]
- Aggressive behavior [HPO term]
- Ataxia [HPO term]
- Atypical behavior [HPO term]
- Autosomal recessive inheritance [HPO term]
- Axial hypotonia [HPO term]
- Bilateral sensorineural hearing impairment [HPO term]
- Cataract [HPO term]
- Cerebral atrophy [HPO term]
- Cerebral edema [HPO term]
- Childhood onset [HPO term]
- Chorea [HPO term]
- Death in childhood [HPO term]
- Delayed speech and language development [HPO term]
- Developmental regression [HPO term]
- Diarrhea [HPO term]
- Dilated cardiomyopathy [HPO term]
- Drooling [HPO term]
- Dystonia [HPO term]
- Encephalopathy [HPO term]
- Episodic vomiting [HPO term]
- Erythema [HPO term]
- Gait ataxia [HPO term]
- Generalized dystonia [HPO term]
- Gliosis [HPO term]
- Global developmental delay [HPO term]
- Hypsarrhythmia [HPO term]
- Increased circulating lactate concentration [HPO term]
- Infantile onset [HPO term]
- Infantile spasms [HPO term]
- Irritability [HPO term]
- Left ventricular hypertrophy [HPO term]
- Lethargy [HPO term]
- Loss of speech [HPO term]
- Myoclonus [HPO term]
- Neurodegeneration [HPO term]
- Ophthalmoplegia [HPO term]
- Pancytopenia [HPO term]
- Recurrent fever [HPO term]
- Seizure [HPO term]
- Skin rash [HPO term]
- Spastic tetraplegia [HPO term]
- Tachycardia [HPO term]
- Ventriculomegaly [HPO term]
- Vomiting [HPO term]
ORDO concept(s)
- NAD(P)HX dehydratase deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- NAD(P)HX dehydratase deficiency (disorder) [SNOMED CT concept]

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