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congenital intrinsic factor deficiency

MeSH: C563242ORPHA: 332

Contents

  1. 1. Overview
  2. 2. Available Treatments
  3. 3. Clinical Presentation
  4. 4. Classification & Codes

Overview

vitamin B12 deficiency that is characterized by megaloblastic anemia due to the absence of gastric intrinsic factor which results in abnormal vitamin B12 absorption

Available Treatments (0)

No treatments linked yet

Clinical trials or compassionate use may be available — consult a specialist.

Clinical Presentation

Signs and symptoms associated with congenital intrinsic factor deficiency, sourced from HPO and Orphanet clinical annotations.

Megaloblastic erythroid hyperplasiaAbsence of intrinsic factorMegaloblastic anemiaDecreased circulating vitamin B12 concentrationDementiaSpecific learning disabilityHyperhomocystinemiaRecurrent infectionsMethylmalonic acidemiaAstheniaGrowth delayHeadacheParesthesiaAtrophy of the spinal cordPeripheral neuropathyMethylmalonic aciduria

Classification & Codes

MeSH Code

C563242

Orphanet Code

ORPHA:332
congenital intrinsic factor deficiency
MeSHC563242
OrphanetORPHA:332
Treatments0 drug(s)
Symptoms on record16 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO