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Traits

Traits linked to GCM2

GCM transcription factor 2

The Human Phenotype Ontology links 23 traits to GCM2, by body system: features seen in people with one of the gene's rare conditions.

Laboratory abnormality

TraitHow often it is seen
Decreased circulating parathyroid hormone levelAlways
High blood calcium levelsAlways
Low blood calcium levelsAlways
Elevated circulating parathyroid hormone levelVery often (80–99%)
Elevated urine calcium levelsVery often (80–99%)
High blood phosphate levelsVery often (80–99%)
High urine phosphate levelsVery often (80–99%)
Low blood phosphate levelVery often (80–99%)
Low blood magnesium levelsSometimes (5–29%)

Abnormality of the endocrine system

TraitHow often it is seen
Congenital hypoparathyroidismAlways
Parathyroid agenesisAlways
Primary hyperparathyroidismAlways
Parathyroid adenomaVery often (80–99%)
Parathyroid carcinomaSometimes (5–29%)

Abnormality of the genitourinary system

TraitHow often it is seen
Increased calcium level in kidneyVery often (80–99%)
Male infertilityOften (30–79%)
Kidney stoneSometimes (5–29%)
Renal failureSometimes (5–29%)

Abnormality of the musculoskeletal system

TraitHow often it is seen
Calcium deposits in jointsVery often (80–99%)
Generalized osteoporosisVery often (80–99%)
OsteopeniaVery often (80–99%)

Abnormality of the digestive system

TraitHow often it is seen
Abdominal symptomSometimes (5–29%)

Abnormality of the nervous system

TraitHow often it is seen
Low calcium seizuresVery often (80–99%)

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 GCM2 and how often each is seen. Find out more at hpo.jax.org.

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