Imerslund-grasbeck syndrome 1

Preferred Label : Imerslund-grasbeck syndrome 1;

Symbol : IGS1;

CISMeF acronym : IGS; MGA1; IGS1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Pernicious anemia, juvenile, due to selective intestinal malabsorption of vitamin b12, with proteinuria; Enterocyte cobalamin malabsorption; Megaloblastic anemia, finnish type; MGA1; Megaloblastic anemia, 1; Enterocyte intrinsic factor receptor, defect of;

Description : Imerslund-Grasbeck syndrome is a form of congenital megaloblastic anemia due to vitamin B12 deficiency caused by a defect in the vitamin B12/intrinsic factor receptor. See also congenital pernicious anemia due to a defect in intrinsic factor (261000). Adult pernicious anemia (170900) is a distinct autoimmune disorder associated with plasma autoantibodies to gastric parietal cells or gastric intrinsic factor. In these cases, there is gastric atrophy and a relatively high frequency of associated thyroiditis and myxedema.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the cubilin (intrinsic factor-vitamin B12 receptor) gene (CUBN, 602997.0001);

Laboratory abnormalities : Proteinuria; Decreased serum vitamin B12; Normal serum folate levels;

Prefixed ID : #261100;

Details

Origin ID

261100;

UMLS CUI

C4551825;

Automatic exact mappings (from CISMeF team)
- 3-methylglutaconic aciduria type 1 [ORDO Disease]
- 3-methylglutaconic aciduria type 1 [DO Concept]
- Gamma globulin serum (product) [Inactive SNOMED CT concept]
- Simplified acute physiology score (assessment scale) [SNOMED CT concept]
- gamma globulin serum [SNOMED Notion]
- megaloblastic anemia [DO Concept]
- surgery, computer-assisted [MeSH Descriptor]
Currated CISMeF NLP mapping
- Imerslund-Graesbeck syndrome [MedDRA LLT]
- Imerslund-Grasbeck syndrome [ICD-11 More detail]
- Imerslund-Grasbeck syndrome [MeSH concept]
- Imerslund-Grasbeck syndrome [MeSH Supplementary Concept]
- Imerslund-Gräsbeck syndrome [ORDO Disease]
- Megaloblastic Anemia 1 [NCIt concept]
- Selective malabsorption of cyanocobalamin (disorder) [SNOMED CT concept]
- Vitamin B12 deficiency anaemia due to selective vitamin B12 malabsorption with proteinuria [ICD-11 More detail]
- Vitamin B12 deficiency anemia due to selective vitamin B12 malabsorption with proteinuria [ICD-10 Sub-category]
DO Cross reference
- megaloblastic anemia [DO Concept]
False automatic mappings
- 3-methylglutaconic aciduria type 1 [ICD-11 More detail]
- surgery, computer-assisted [EFMI term]
Genes related to phenotype
- Cubilin [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Childhood onset [HPO term]
- Confusion [HPO term]
- Dementia [HPO term]
- Malabsorption of Vitamin B12 [HPO term]
- Megaloblastic anemia [HPO term]
- Paresthesia [HPO term]
- Proteinuria [HPO term]
- Somatic sensory dysfunction [HPO term]
- Vitamin B12 deficiency [HPO term]
- megaloblastic anemia, chronic, relapsing [HPO term]
Not associated HPO term(s)
- Abnormal blood folate concentration [HPO term]
ORDO concept(s)
- Imerslund-Gräsbeck syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Familial megaloblastic anemia (disorder) [SNOMED CT concept]
- Imerslund-Graesbeck syndrome [MedDRA LLT]
- Imerslund-Grasbeck syndrome [MeSH concept]
- Imerslund-Grasbeck syndrome [MeSH Supplementary Concept]
- Imerslund-Grasbeck syndrome [ICD-11 More detail]
- Imerslund-Gräsbeck syndrome [ORDO Disease]
- Juvenile type megaloblastic anemia (disorder) [SNOMED CT concept]
- Megaloblastic Anemia 1 [NCIt concept]
- Megaloblastic anemia due to inborn errors of metabolism (disorder) [SNOMED CT concept]
- Selective malabsorption of cyanocobalamin (disorder) [SNOMED CT concept]
- familial megaloblastic anemia [SNOMED Notion]
- juvenile type megaloblastic anemia, nos [SNOMED Notion]
- megaloblastic anemia due to inborn errors of metabolism, nos [SNOMED Notion]

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