Intrinsic factor deficiency

Preferred Label : Intrinsic factor deficiency;

Symbol : IFD;

CISMeF acronym : IFD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Pernicious anemia, congenital, due to defect of intrinsic factor;

Description : Congenital pernicious anemia (PA), or intrinsic factor deficiency, is a rare disorder characterized by the lack of gastric intrinsic factor in the presence of normal acid secretion and mucosal cytology and the absence of GIF antibodies that are found in the acquired form of pernicious anemia (170900). See also pernicious anemia due to defect in the receptor for vitamin B12/intrinsic factor (261100).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the cobalamin-binding intrinsic factor gene (CBLIF, 609342.0001);

Laboratory abnormalities : Decreased serum B12 levels;

Prefixed ID : #261000;

Details

Origin ID

261000;

UMLS CUI

C1394891;

Automatic exact mappings (from CISMeF team)
- Image File Directory [NCIt concept]
- fluorescent antibody technique, direct [MeSH Descriptor]
Currated CISMeF NLP mapping
- Congenital deficiency of intrinsic factor (disorder) [SNOMED CT concept]
- Congenital intrinsic factor deficiency [MedDRA Preferred Term]
- Congenital intrinsic factor deficiency [ORDO Disease]
- Intrinsic factor deficiency [MedDRA Preferred Term]
- Vitamin B12 deficiency anaemia due to congenital intrinsic factor deficiency [ICD-11 More detail]
- congenital intrinsic factor deficiency [DO Concept]
- intrinsic factor deficiency [MeSH concept]
- intrinsic factor deficiency [MeSH Supplementary Concept]
DO Cross reference
- congenital intrinsic factor deficiency [DO Concept]
Genes related to phenotype
- Cobalamin-binding intrinsic factor [OMIM gene]
HPO term(s)
- Abnormality of metabolism/homeostasis [HPO term]
- Abnormality of the immune system [HPO term]
- Absence of intrinsic factor [HPO term]
- Autosomal recessive inheritance [HPO term]
- Increased mean corpuscular volume [HPO term]
- Juvenile onset [HPO term]
- Malabsorption [HPO term]
- Malabsorption of Vitamin B12 [HPO term]
- Megaloblastic anemia [HPO term]
- Megaloblastic erythroid hyperplasia [HPO term]
- Paresthesia [HPO term]
- Somatic sensory dysfunction [HPO term]
ORDO concept(s)
- Congenital intrinsic factor deficiency [ORDO Disease]
See also inter- (CISMeF)
- Pernicious Anemia [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital deficiency of intrinsic factor (disorder) [SNOMED CT concept]
- Congenital intrinsic factor deficiency [MedDRA Preferred Term]
- Intrinsic factor deficiency [MedDRA Preferred Term]
- intrinsic factor deficiency [MeSH Supplementary Concept]
- intrinsic factor deficiency [MeSH concept]

Keyword's position in hierarchy(ies) :

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