Traits

Traits linked to HINT1

histidine triad nucleotide binding protein 1

The Human Phenotype Ontology links 52 traits to HINT1, 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
Decreased sensation in extremities	Very often (80–99%)
Myokymia	Very often (80–99%)
Neuromyotonia	Very often (80–99%)
Abnormal gait	Often (30–79%)
Diminished deep tendon reflex	Often (30–79%)
Motor axonal neuropathy	Often (30–79%)
Motor polyneuropathy	Often (30–79%)
Absent reflexes	Sometimes (5–29%)
Distal sensory impairment of all modalities	Sometimes (5–29%)
High stepping	Sometimes (5–29%)
Impaired vibration sensation in the lower limbs	Sometimes (5–29%)
Loss of ability to walk	Sometimes (5–29%)
Pins and needles feeling	Sometimes (5–29%)
Sensory axonal neuropathy	Sometimes (5–29%)
Tetraparesis	Sometimes (5–29%)
Writer's cramp	Sometimes (5–29%)
Intellectual disability, mild	Rarely (1–4%)
Specific learning disability	Rarely (1–4%)
Muscle twitch	Not recorded

Abnormality of limbs

Trait	How often it is seen
Distal lower limb muscle weakness	Very often (80–99%)
Abnormal feet structure	Often (30–79%)
Absent ankle reflexes	Often (30–79%)
Limb fasciculations	Often (30–79%)
Foot drop	Sometimes (5–29%)
Hand muscle degeneration	Sometimes (5–29%)
High-arched foot	Sometimes (5–29%)
Intrinsic hand muscle atrophy	Sometimes (5–29%)
Peroneal muscle atrophy	Sometimes (5–29%)
Shortening of the achilles tendon	Sometimes (5–29%)
Weakness of long finger extensor muscles	Sometimes (5–29%)
Weakness of the intrinsic hand muscles	Sometimes (5–29%)
Permanent flexion of the finger	Rarely (1–4%)
Short 3rd long bone of foot	Rarely (1–4%)
Split hand	Rarely (1–4%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
EMG: chronic denervation signs	Very often (80–99%)
EMG: myokymic discharges	Very often (80–99%)
Myotonia	Very often (80–99%)
Exercise-induced muscle cramps	Often (30–79%)
Fatigable weakness of distal limb muscles	Often (30–79%)
Frequent falls	Often (30–79%)
Handgrip myotonia	Often (30–79%)
Distal lower limb amyotrophy	Sometimes (5–29%)
Exercise-induced leg cramps	Sometimes (5–29%)
Flexed joint that cannot be straightened	Sometimes (5–29%)
Muscle stiffness	Sometimes (5–29%)
Percussion-induced rapid rolling muscle contractions	Sometimes (5–29%)
Thoracic scoliosis	Rarely (1–4%)
Muscle degeneration	Not recorded
Muscle spasm	Not recorded

Abnormality of the integument

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

Constitutional symptom

Trait	How often it is seen
Decreased ability to exercise	Often (30–79%)

Laboratory abnormality

Trait	How often it is seen
Elevated blood creatine phosphokinase	Very 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 HINT1 and how often each is seen. Find out more at hpo.jax.org.

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