Neurodegeneration due to cerebral folate transport deficiency

Preferred Label : Neurodegeneration due to cerebral folate transport deficiency;

Symbol : NCFTD;

Type : Phenotype, molecular basis known;

Description : This is an autosomal recessive disorder resulting from brain-specific folate deficiency early in life. Onset is apparent in late infancy with severe developmental regression, movement disturbances, epilepsy, and leukodystrophy. Recognition and diagnosis of this disorder is critical because folinic acid therapy can reverse the clinical symptoms and improve brain abnormalities and function (Steinfeld et al,. 2009).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the adult folate receptor 1 gene (FOLR1, 136430.0001);

Laboratory abnormalities : Decreased CSF methyltetrahydrofolate (MTHF);

Prefixed ID : #613068;

Détails

Origin ID

613068;

UMLS CUI

C2751584;

CISMeF manual mappings
- Cerebral folate transport deficiency (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Neurodegenerative syndrome due to cerebral folate transport deficiency [ORDO Disease]
- cerebral folate transport deficiency [Disease (Nov.)]
- neurodegeneration due to cerebral folate transport deficiency [Disease (Nov.)]
- neurodegeneration due to cerebral folate transport deficiency [MeSH concept]
- neurodegeneration due to cerebral folate transport deficiency [MeSH Supplementary Concept]
DO Cross reference
- cerebral folate receptor alpha deficiency [DO Concept]
Genes related to phenotype
- Folate receptor, alpha [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Developmental regression [HPO term]
- Intellectual disability [HPO term]
- Neurodegeneration [HPO term]
- Seizure [HPO term]
ORDO concept(s)
- Neurodegenerative syndrome due to cerebral folate transport deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cerebral folate deficiency [MedDRA Preferred Term]
- Cerebral folate transport deficiency (disorder) [SNOMED CT concept]
- Neurodegenerative syndrome due to cerebral folate transport deficiency [ORDO Disease]
- cerebral folate transport deficiency [Disease (Nov.)]
- neurodegeneration due to cerebral folate transport deficiency [MeSH Supplementary Concept]
- neurodegeneration due to cerebral folate transport deficiency [MeSH concept]
- neurodegeneration due to cerebral folate transport deficiency [Disease (Nov.)]

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

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