Hereditary Folate Malabsorption malady
Genetic diseases, Gastrointestinal diseases, Metabolic diseases, Blood diseases, Rare diseases, Endocrine diseases categories
OMIM:46 Hereditary folate malabsorption is an autosomal recessive disorder characterized by signs and symptoms of folate... (229050) more...
MalaCards based summary: Hereditary Folate Malabsorption, is also known as congenital folate malabsorption, and has symptoms including glossitis, pallor and megaloblastic anemia. An important gene associated with Hereditary Folate Malabsorption is SLC46A1 (solute carrier family 46 (folate transporter), member 1). Affiliated tissues include thyroid, bone marrow and bone.
Genetics Home Reference:22 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.
GeneReviews summary for folate-mal
Hereditary Folate Malabsorption, Aliases & Descriptions:
Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Metabolic diseases, Rare diseases
Anatomical: Gastrointestinal diseases, Blood diseases, Endocrine diseases
Rare gastroenterological diseases
Inborn errors of metabolism
Rare haematological diseases
Characteristics (Orphanet epidemiological data):48
hereditary folate malabsorption:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy
Symptoms by clinical synopsis from OMIM:229050
Clinical features from OMIM:229050
Symptoms:48 (show all 27)
HPO human phenotypes related to Hereditary Folate Malabsorption:(show all 43)
MalaCards organs/tissues related to Hereditary Folate Malabsorption:32
Thyroid, Bone marrow, Bone, B cells
Articles related to Hereditary Folate Malabsorption:(show all 19)
UniProtKB/Swiss-Prot genetic disease variations for Hereditary Folate Malabsorption:63
Clinvar genetic disease variations for Hereditary Folate Malabsorption:7 (show all 17)
Search GEO for disease gene expression data for Hereditary Folate Malabsorption.
27ICD10 via Orphanet
35MESH via Orphanet
47OMIM via Orphanet
57SNOMED-CT via Orphanet
62UMLS via Orphanet