Encephalopathy, acute, infection-induced, susceptibility to, 3

Preferred Label : Encephalopathy, acute, infection-induced, susceptibility to, 3;

Symbol : IIAE3;

CISMeF acronym : ANE; IIAE3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : ANE1; Encephalopathy, acute necrotizing, susceptibility to, 1;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the ran-binding protein 2 gene (RANBP2, 601181.0001);

Laboratory abnormalities : Increased CSF protein during acute illness;

Prefixed ID : #608033;

Détails

Origin ID

608033;

UMLS CUI

C2675556;

False automatic mappings
- Year [NCIt concept]
- Year [ICNP time]
- per year (qualifier value) [SNOMED CT concept]
- year [UCUM unit]
- year [IUPAC Unit]
- year (qualifier value) [SNOMED CT concept]
Genes related to phenotype
- Ran-binding protein 2 [OMIM gene]
HPO term(s)
- Abnormality of the immune system [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cerebral edema [HPO term]
- Coma [HPO term]
- Encephalopathy [HPO term]
- Gliosis [HPO term]
- Hypertonia [HPO term]
- Incomplete penetrance [HPO term]
- Increased CSF protein [HPO term]
- Infantile onset [HPO term]
- Pneumonia [HPO term]
- Quadriplegia [HPO term]
- Seizure [HPO term]
- Spastic tetraplegia [HPO term]
- Tetraplegia [HPO term]
ORDO concept(s)
- Familial acute necrotizing encephalopathy [ORDO Disease]
See also inter- (CISMeF)
- Acute necrotizing encephalopathy of childhood [ORDO Disease]
- Familial acute necrotizing encephalopathy [ORDO Disease]
- RANBP2 wt Allele [NCIt concept]
Semantic type(s)
- Finding [UMLS semantic type]

Position du mot-clé dans l'(les) arborescence(s) :

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