Folate malabsorption, hereditary

Preferred Label : Folate malabsorption, hereditary;

Type : Phenotype, molecular basis known;

Description : Hereditary folate malabsorption is an autosomal recessive disorder characterized by signs and symptoms of folate deficiency that appear within a few months after birth. Infants exhibit low blood and cerebrospinal fluid folate levels with megaloblastic anemia, diarrhea, immune deficiency, infections, and neurologic deficits. Treatment with folate supplementation results in resolution of the signs and symptoms. The disorder is caused by impaired intestinal folate absorption and impaired transport of folate into the central nervous system (summary by Qiu et al., 2006).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the solute carrier family 46 (folate transporter), member 1 gene (SLC46A1, 611672.0001);

Laboratory abnormalities : Decreased serum folate; Decreased CSF folate; Low plasma methionine; Increased urinary formiminoglutamic acid (FIGLU);

Prefixed ID : #229050;

Details

Origin ID

229050;

UMLS CUI

C0342705;

Automatic exact mappings (from CISMeF team)
- Hereditary Folate Malabsorption [NCIt concept]
- Hereditary folate malabsorption [ICD-11 More detail]
- hereditary folate malabsorption [DO Concept]
Currated CISMeF NLP mapping
- Congenital defect of folate absorption (disorder) [SNOMED CT concept]
- Hereditary folate malabsorption [ORDO Disease]
- congenital defect of folate absorption [SNOMED Notion]
- folate malabsorption, hereditary [MeSH concept]
- folate malabsorption, hereditary [MeSH Supplementary Concept]
- hereditary folate malabsorption [Disease (Nov.)]
DO Cross reference
- hereditary folate malabsorption [DO Concept]
Genes related to phenotype
- Solute carrier family 46 (folate transporter), member 1 [OMIM gene]
HPO term(s)
- Ataxia [HPO term]
- Athetosis [HPO term]
- Autosomal recessive inheritance [HPO term]
- Basal ganglia calcification [HPO term]
- Diarrhea [HPO term]
- Dyskinesia [HPO term]
- Failure to thrive [HPO term]
- Feeding difficulties [HPO term]
- Feeding difficulties in infancy [HPO term]
- Folate-responsive megaloblastic anemia [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hypotonia [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Irritability [HPO term]
- Leukopenia [HPO term]
- Malabsorption [HPO term]
- Neutropenia [HPO term]
- Oral ulcer [HPO term]
- Peripheral neuropathy [HPO term]
- Recurrent infections [HPO term]
- Seizure [HPO term]
- Susceptibility to infection [HPO term]
- Thrombocytopenia [HPO term]
ORDO concept(s)
- Hereditary folate malabsorption [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital defect of folate absorption (disorder) [SNOMED CT concept]
- Hereditary Folate Malabsorption [NCIt concept]
- Hereditary folate malabsorption [ORDO Disease]
- congenital defect of folate absorption [SNOMED Notion]
- folate malabsorption, hereditary [MeSH Supplementary Concept]
- folate malabsorption, hereditary [MeSH concept]
- hereditary folate malabsorption [Disease (Nov.)]
- hereditary folate malabsorption [DO Concept]

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