Traits

Traits linked to ACVR1

activin A receptor type 1

The Human Phenotype Ontology links 52 traits to ACVR1, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the musculoskeletal system

Trait	How often it is seen
Calcification of muscle tissue	Always
Ectopic ossification	Always
Abnormal vertebral morphology	Very often (80–99%)
Ectopic ossification in ligament tissue	Very often (80–99%)
Fused neck	Very often (80–99%)
Limitation of joint mobility	Very often (80–99%)
Osteochondroma	Very often (80–99%)
Reduced spine movement	Very often (80–99%)
Abnormal formation of the hip	Often (30–79%)
Increased susceptibility to fractures	Often (30–79%)
Scoliosis	Often (30–79%)
Enchondroma	Sometimes (5–29%)
Fusion of joints	Sometimes (5–29%)
Basal ganglia calcification	Rarely (1–4%)
Delayed bone maturation	Rarely (1–4%)
Ectopic ossification in tendon tissue	Not recorded
Progressive cervical vertebral spine fusion	Not recorded
Small cervical vertebral bodies	Not recorded

Abnormality of limbs

Trait	How often it is seen
Bunion	Always
Abnormality of the 1st long bone of foot	Very often (80–99%)
Abnormality of the big toe	Very often (80–99%)
Short big toe	Very often (80–99%)
Abnormal neck of thigh bone	Often (30–79%)
Abnormality of the thumb	Often (30–79%)
Absent/small big toe bone	Often (30–79%)
Curvature of digit	Often (30–79%)
Broad femoral neck	Not recorded
Broad wide portion of long bone	Not recorded
Curvature of little finger	Not recorded
Delayed toe phalanx ossification	Not recorded
Shortened 1st long bone of hand	Not recorded

Abnormality of the ear

Trait	How often it is seen
Hearing impairment	Often (30–79%)
Conductive deafness	Not recorded
Sensorineural hearing impairment	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Epilepsy	Rarely (1–4%)
Intellectual disability	Rarely (1–4%)
Intellectual disability, mild	Rarely (1–4%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Blood clot in a deep vein	Sometimes (5–29%)
Low number of red blood cells or hemoglobin	Rarely (1–4%)

Abnormality of head or neck

Trait	How often it is seen
Limitation of neck motion	Always
Widely spaced teeth	Not recorded

Abnormality of the integument

Trait	How often it is seen
Firm lump under the skin	Very often (80–99%)
Hair loss	Often (30–79%)

Abnormality of the respiratory system

Trait	How often it is seen
Respiratory function loss	Often (30–79%)
Respiratory failure	Not recorded

Laboratory abnormality

Trait	How often it is seen
Elevated alkaline phosphatase	Always
Swelling caused by excess lymph fluid under skin	Sometimes (5–29%)

Abnormal tissue mass

Trait	How often it is seen
Hamartoma	Not recorded

Abnormality of the eye

Trait	How often it is seen
Glaucoma	Rarely (1–4%)

Abnormality of the genitourinary system

Trait	How often it is seen
Kidney stone	Sometimes (5–29%)

Constitutional symptom

Trait	How often it is seen
Hip pain	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Faltering weight	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 ACVR1 and how often each is seen. Find out more at hpo.jax.org.

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