Megaloblastic Anemia-1, Finnish Type malady
Categories: Genetic diseases, Rare diseases, Gastrointestinal diseases, Nephrological diseases, Metabolic diseases, Blood diseases
11Disease Ontology, 12diseasecard, 13DISEASES, 24GeneTests, 25Genetics Home Reference, 26GTR, 29ICD10, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 44NCIt, 47NIH Rare Diseases, 49Novoseek, 51OMIM, 53Orphanet, 61SNOMED-CT, 63The Human Phenotype Ontology, 67UMLS, 69UniProtKB/Swiss-Prot
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Aliases & Descriptions for Megaloblastic Anemia-1, Finnish Type:
Orphanet epidemiological data:53
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: 30 29
Rare gastroenterological diseases
Rare renal diseases
Inborn errors of metabolism
Rare haematological diseases
Genetics Home Reference:25 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.
MalaCards based summary: Megaloblastic Anemia-1, Finnish Type, also known as imerslund-grasbeck syndrome, is related to congenital intrinsic factor deficiency and heart disease, and has symptoms including proteinuria, dementia and confusion. An important gene associated with Megaloblastic Anemia-1, Finnish Type is CUBN (Cubilin), and among its related pathways are Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE and Defective AMN causes hereditary megaloblastic anemia 1. The drugs l-methylfolate and folic acid have been mentioned in the context of this disorder. Affiliated tissues include kidney and thyroid.
Disease Ontology:11 A macrocytic anemia that is characterized by inhibition of DNA synthesis during red blood cell production.
NIH Rare Diseases:47 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
OMIM:51 Imerslund-Grasbeck syndrome is a form of congenital megaloblastic anemia due to vitamin B12 deficiency caused by a... (261100) more...
UniProtKB/Swiss-Prot:69 Recessive hereditary megaloblastic anemia 1: Due to selective malabsorption of vitamin B12. Defects in vitamin B12 absorption lead to impaired function of thymidine synthase. As a consequence DNA synthesis is interrupted. Rapidly dividing cells involved in erythropoiesis are particularly affected.
Human phenotypes related to Megaloblastic Anemia-1, Finnish Type:63 (show all 7)
UMLS symptoms related to Megaloblastic Anemia-1, Finnish Type:athetosis, cerebellar ataxia
MalaCards organs/tissues related to Megaloblastic Anemia-1, Finnish Type:35
UniProtKB/Swiss-Prot genetic disease variations for Megaloblastic Anemia-1, Finnish Type:69
Clinvar genetic disease variations for Megaloblastic Anemia-1, Finnish Type:5 (show all 51)
Search GEO for disease gene expression data for Megaloblastic Anemia-1, Finnish Type.
Pathways related to Megaloblastic Anemia-1, Finnish Type according to GeneCards Suite gene sharing:
Cellular components related to Megaloblastic Anemia-1, Finnish Type according to GeneCards Suite gene sharing:
Biological processes related to Megaloblastic Anemia-1, Finnish Type according to GeneCards Suite gene sharing:(show all 9)
Molecular functions related to Megaloblastic Anemia-1, Finnish Type according to GeneCards Suite gene sharing:
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet