Folate Malabsorption, Hereditary malady
Categories: Genetic diseases, Rare diseases, Gastrointestinal diseases, Metabolic diseases, Blood diseases
Aliases & Descriptions for Folate Malabsorption, Hereditary:
Orphanet epidemiological data:51
hereditary folate malabsorption:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal
Global: Genetic diseases, Rare diseases, Metabolic diseases
Anatomical: Gastrointestinal diseases, Blood diseases
Rare gastroenterological diseases
Inborn errors of metabolism
Rare haematological diseases
Rare immunological diseases
UniProtKB/Swiss-Prot:67 Hereditary folate malabsorption: Rare autosomal recessive disorder characterized by impaired intestinal folate absorption with folate deficiency resulting in anemia, hypoimmunoglobulinemia with recurrent infections, and recurrent or chronic diarrhea. In many patients, neurological abnormalities such as seizures or mental retardation become apparent during early childhood, attributed to impaired transport of folates into the central nervous system. When diagnosed early, the disorder can be treated by administration of folate. If untreated, it can be fatal and, if treatment is delayed, the neurological defects can become permanent.
MalaCards based summary: Folate Malabsorption, Hereditary, also known as hereditary folate malabsorption, is related to hemifacial microsomia and craniofacial microsomia, and has symptoms including cheilitis, cognitive impairment and decreased antibody level in blood. An important gene associated with Folate Malabsorption, Hereditary is SLC46A1 (Solute Carrier Family 46 Member 1). Affiliated tissues include bone, bone marrow and skeletal muscle.
Genetics Home Reference:23 Hereditary folate malabsorption is a disorder that interferes with the body's ability to absorb certain B vitamins (called folates) from food. Folates are important for many cell functions, including the production of DNA and its chemical cousin, RNA.
OMIM:49 Hereditary folate malabsorption is an autosomal recessive disorder characterized by signs and symptoms of folate... (229050) more...
GeneReviews summary for NBK1673
Diseases related to Folate Malabsorption, Hereditary via text searches within MalaCards or GeneCards Suite gene sharing:
Symptoms by clinical synopsis from OMIM:229050
Clinical features from OMIM:229050
Symptoms:51 (show all 27)
HPO human phenotypes related to Folate Malabsorption, Hereditary:(show all 40)
UMLS symptoms related to Folate Malabsorption, Hereditary:seizures, diarrhea, athetosis, ataxia
MalaCards organs/tissues related to Folate Malabsorption, Hereditary:33
Bone, Bone marrow, Skeletal muscle, B cells, Liver, Endothelial
UniProtKB/Swiss-Prot genetic disease variations for Folate Malabsorption, Hereditary:67
Clinvar genetic disease variations for Folate Malabsorption, Hereditary:5 (show all 17)
Search GEO for disease gene expression data for Folate Malabsorption, Hereditary.
28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet