Traits

Traits linked to CBLIF

cobalamin binding intrinsic factor

The Human Phenotype Ontology links 23 traits to CBLIF, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

Trait	How often it is seen
Dementia	Often (30–79%)
Specific learning disability	Often (30–79%)
Degeneration of the spinal cord	Sometimes (5–29%)
Headache	Sometimes (5–29%)
Peripheral neuropathy	Sometimes (5–29%)
Pins and needles feeling	Sometimes (5–29%)
Somatic sensory dysfunction	Not recorded

Laboratory abnormality

Trait	How often it is seen
Decreased circulating haptoglobin concentration	Always
Increased circulating lactate dehydrogenase concentration	Always
Malabsorption of Vitamin B12	Always
Vitamin B12 deficiency	Always
Elevated blood homocystine	Often (30–79%)
Methylmalonic acidemia	Often (30–79%)
Methylmalonic aciduria	Sometimes (5–29%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Increased RBC distribution width	Always
Megaloblastic anemia	Always
Megaloblastic erythroid hyperplasia	Sometimes (5–29%)
Increased mean corpuscular volume	Not recorded

Abnormality of the immune system

Trait	How often it is seen
Recurrent infections	Often (30–79%)
Anti-intrinsic factor antibody positivity	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Absence of intrinsic factor	Always

Constitutional symptom

Trait	How often it is seen
Lack of energy and strength	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Growth delay	Sometimes (5–29%)

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Where this comes from

The Human Phenotype Ontology, release 2026-09-01: the traits linked to CBLIF and how often each is seen. Find out more at hpo.jax.org.

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