Megaloblastic Anemia malady
Categories: Genetic diseases, Rare diseases, Gastrointestinal diseases, Nephrological diseases, Metabolic diseases, Blood diseases
Aliases & Descriptions for Megaloblastic Anemia:
Orphanet epidemiological data:51
selective cobalamin malabsorption with proteinuria:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Finland),1-9/1000000 (Norway); Age of onset: Childhood
Global: Genetic diseases, Rare diseases, Metabolic diseases
Anatomical: Gastrointestinal diseases, Nephrological diseases, Blood diseases
ICD10: 28 27
Rare gastroenterological diseases
Rare renal diseases
Inborn errors of metabolism
Rare haematological diseases
NIH Rare Diseases:45 Imerslund-grasbeck syndrome (igs) is a rare condition characterized by vitamin b12 deficiency, often causing megaloblastic anemia. igs usually appears in childhood. other features may include failure to thrive, infections, and neurological damage. mild proteinuria (with no signs of kidney disease) is present in about half of affected individuals. igs is caused by mutations in either the cubn or amn gene and is inherited in an autosomal recessive manner. treatment includes life-long vitamin b12 injections, with which affected individuals can stay healthy for decades. last updated: 1/6/2014
MalaCards based summary: Megaloblastic Anemia, also known as imerslund-grasbeck syndrome, is related to congenital intrinsic factor deficiency and omphalocele. An important gene associated with Megaloblastic Anemia is CUBN (Cubilin), and among its related pathways are Defective MTR causes methylmalonic aciduria and homocystinuria type cblG and histidine degradation. The drugs folic acid and leucovorin have been mentioned in the context of this disorder. Affiliated tissues include kidney, t cells and bone.
Disease Ontology:10 A macrocytic anemia that is characterized by inhibition of DNA synthesis during red blood cell production.
Genetics Home Reference:23 Imerslund-Gräsbeck syndrome is a condition caused by low levels of vitamin B12 (also known as cobalamin). The primary feature of this condition is a blood disorder called megaloblastic anemia. In this form of anemia, which is a disorder characterized by the shortage of red blood cells, the red cells that are present are abnormally large. About half of people with Imerslund-Gräsbeck syndrome also have high levels of protein in their urine (proteinuria). Although proteinuria can be an indication of kidney problems, people with Imerslund-Gräsbeck syndrome appear to have normal kidney function.
Wikipedia:68 Megaloblastic anemia (or megaloblastic anaemia) is an anemia (of macrocytic classification) that results... more...
Drugs for Megaloblastic Anemia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 28)
Interventional clinical trials:
Search NIH Clinical Center for Megaloblastic Anemia
Inferred drug relations via UMLS65/NDF-RT43:
MalaCards organs/tissues related to Megaloblastic Anemia:33
Kidney, T cells, Bone, Brain, Breast, Prostate, Liver
Articles related to Megaloblastic Anemia:(show top 50) (show all 428)
Search GEO for disease gene expression data for Megaloblastic Anemia.
Pathways related to Megaloblastic Anemia according to GeneCards Suite gene sharing:(show all 12)
Cellular components related to Megaloblastic Anemia according to GeneCards Suite gene sharing:
Biological processes related to Megaloblastic Anemia according to GeneCards Suite gene sharing:(show all 12)
Molecular functions related to Megaloblastic Anemia according to GeneCards Suite gene sharing:
28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet