Folate Malabsorption, Hereditary malady
Categories: Genetic diseases, Rare diseases, Gastrointestinal diseases, Metabolic diseases, Blood diseases
Aliases & Descriptions for Folate Malabsorption, Hereditary:
Orphanet epidemiological data:53
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:69 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 lateral facial dysplasia, and has symptoms including glossitis, pallor and megaloblastic anemia. An important gene associated with Folate Malabsorption, Hereditary is SLC46A1 (Solute Carrier Family 46 Member 1). Affiliated tissues include brain, skeletal muscle and bone.
Genetics Home Reference:25 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:51 Hereditary folate malabsorption is an autosomal recessive disorder characterized by signs and symptoms of folate... (229050) more...
Wikipedia:70 Hereditary folate malabsorption (HFM - OMIM #229050) is a rare autosomal recessive disorder caused by... more...
GeneReviews for NBK1673
Diseases related to Folate Malabsorption, Hereditary via text searches within MalaCards or GeneCards Suite gene sharing:
Graphical network of diseases related to Folate Malabsorption, Hereditary:
Human phenotypes related to Folate Malabsorption, Hereditary:63 53 (show all 42)
UMLS symptoms related to Folate Malabsorption, Hereditary:ataxia, athetosis, diarrhea, seizures
MalaCards organs/tissues related to Folate Malabsorption, Hereditary:35
Brain, Skeletal muscle, Bone, Bone marrow
Search GEO for disease gene expression data for Folate Malabsorption, Hereditary.
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet