Folate Malabsorption, Hereditary malady
Genetic diseases, Gastrointestinal diseases, Metabolic diseases, Blood diseases, Rare diseases categories
OMIM:45 Hereditary folate malabsorption is an autosomal recessive disorder characterized by signs and symptoms of folate... (229050) more...
MalaCards based summary: Folate Malabsorption, Hereditary, also known as hereditary folate malabsorption, is related to pancytopenia, and has symptoms including glossitis, pallor and megaloblastic anemia. An important gene associated with Folate Malabsorption, Hereditary is SLC46A1 (solute carrier family 46 (folate transporter), member 1). Affiliated tissues include bone marrow, bone and b cells.
Genetics Home Reference:21 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
Folate Malabsorption, Hereditary, Aliases & Descriptions:
Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Metabolic diseases, Rare diseases
Anatomical: Gastrointestinal diseases, Blood diseases
Rare gastroenterological diseases
Inborn errors of metabolism
Rare haematological diseases
Characteristics (Orphanet epidemiological data):47
hereditary folate malabsorption:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal
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:47 (show all 27)
HPO human phenotypes related to Folate Malabsorption, Hereditary:(show all 43)
MalaCards organs/tissues related to Folate Malabsorption, Hereditary:31
Bone marrow, Bone, B cells
UniProtKB/Swiss-Prot genetic disease variations for Folate Malabsorption, Hereditary:62
Clinvar genetic disease variations for Folate Malabsorption, Hereditary:6 (show all 17)
Search GEO for disease gene expression data for Folate Malabsorption, Hereditary.
26ICD10 via Orphanet
34MESH via Orphanet
46OMIM via Orphanet
56SNOMED-CT via Orphanet
61UMLS via Orphanet