hereditary intrinsic factor deficiency
Findings
No curated finding names hereditary intrinsic factor deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Congenital intrinsic factor deficiency (IFD) is a rare disorder of vitamin B12 (cobalamin) absorption that is characterized by megaloblastic anemia and neurological abnormalities.
Definition from the Mondo Disease Ontology (MONDO:0009852), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
20 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Absence of intrinsic factorHPOHP:0005219
- 1 of 1 reported patient
- Obligate (100% of cases)
- Decreased circulating haptoglobin concentrationHPOHP:0020181
- 1 of 1 reported patient
- Decreased circulating vitamin B12 concentrationHPOHP:0100502
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- Increased circulating lactate dehydrogenase concentrationHPOHP:0025435
- 1 of 1 reported patient
- Increased RBC distribution widthHPOHP:0031965
- 1 of 1 reported patient
- Malabsorption of Vitamin B12HPOHP:0200118
- 1 of 1 reported patient
Show the remaining 8
- Specific learning disabilityHPOHP:0001328
- Frequent (30% to 79% of cases)
- Atrophy of the spinal cordHPOHP:0006827
- Occasional (5% to 29% of cases)
- Growth delayHPOHP:0001510
- Occasional (5% to 29% of cases)
- HeadacheHPOHP:0002315
- Occasional (5% to 29% of cases)
- Megaloblastic erythroid hyperplasiaHPOHP:0200143
- Occasional (5% to 29% of cases)
- Methylmalonic aciduriaHPOHP:0012120
- Occasional (5% to 29% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- CBLIFHGNC:4268
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- Narrower terms (1)
Other names
7 names
Resolves to: hereditary intrinsic factor deficiency
- Also called
- congenital intrinsic factor deficiencycongenital pernicious anaemiacongenital pernicious anemiagastric intrinsic factor deficiencyhereditary juvenile megaloblastic anaemia due to intrinsic factor deficiencyhereditary juvenile megaloblastic anemia due to intrinsic factor deficiencyIFD