IEMbase 0080: CBLIF-related intrinsic factor deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 80 |
| Nosology | 21.9.01.01 |
| Gene | CBLIF |
| External IDs | OMIM:261000 |
| Generated mapping | MAPPED by alias_exact:congenital pernicious anemia |
| Candidate DisMech targets | Hereditary_Intrinsic_Factor_Deficiency.yaml |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents this as autosomal recessive CBLIF-related intrinsic factor deficiency, with alternate labels congenital pernicious anemia, TCN III/TCN3 deficiency, and IFD. Treatability is marked yes.
The characteristic biochemical signal includes low plasma vitamin B12, elevated plasma and urinary methylmalonic acid, and elevated total plasma homocysteine. Additional rows include urinary homocysteine and total plasma protein.
Characteristic clinical rows include megaloblastic anemia, anorexia, apathy, failure to thrive, and irritability.
The treatment row is vitamin B12.
DisMech phenotype coverage
The generated mapping to Hereditary_Intrinsic_Factor_Deficiency.yaml is
correct.
DisMech models hereditary intrinsic factor deficiency as a rare autosomal recessive cobalamin-absorption disorder caused by CBLIF/GIF variants. It covers loss of gastric intrinsic factor, impaired intrinsic factor-dependent cobalamin absorption, low serum cobalamin, methylmalonic aciduria, homocysteine accumulation, megaloblastic and macrocytic anemia, pancytopenia, gastrointestinal symptoms, neurologic abnormalities, and lifelong vitamin B12 or hydroxocobalamin replacement.
The local entry also explicitly distinguishes CBLIF/GIF intrinsic factor deficiency from CUBN/AMN Imerslund-Grasbeck syndrome in its differential diagnoses.
Concordance and completeness
Judgement: correct mapping and high concordance.
IEMbase is more compact, while DisMech is stronger for mechanism, differential diagnosis, and treatment rationale. IEMbase adds specific clinical rows for anorexia, apathy, and irritability that are not prominent in the local entry, but these do not change the mapping decision.
Curation actions
- Keep the generated mapping to
Hereditary_Intrinsic_Factor_Deficiency.yaml. - No separate CBLIF-only file is needed.
- Consider IEMbase's anorexia, apathy, irritability, and total-protein rows as optional future phenotype/biochemical enrichments.