Traits

Traits linked to HK1

hexokinase 1

The Human Phenotype Ontology links 93 traits to HK1, by body system: features seen in people with one of the gene's rare conditions.

HK1

Abnormality of the nervous system

Trait	How often it is seen
Absent reflexes	Always
Decreased sensation in extremities	Always
Global developmental delay	Always
Intellectual disability	Always
Decreased distal sensory nerve action potential	Very often (80–99%)
Decreased motor nerve conduction velocity	Very often (80–99%)
Delayed speech and language development	Very often (80–99%)
Demyelinating peripheral neuropathy	Very often (80–99%)
Distal sensory impairment of all modalities	Very often (80–99%)
Impaired vibratory sensation	Very often (80–99%)
Motor conduction block	Very often (80–99%)
Peripheral axonal neuropathy	Very often (80–99%)
Peripheral demyelination	Very often (80–99%)
Underdevelopment of part of brain called corpus callosum	Very often (80–99%)
Abnormal gait	Often (30–79%)
Ataxia	Often (30–79%)
Delayed ability to sit	Often (30–79%)
Impaired touch sensation	Often (30–79%)
Abnormality of balance	Sometimes (5–29%)
Degeneration of cerebellum	Sometimes (5–29%)
Delayed ability to walk	Sometimes (5–29%)
Impaired pain sensation	Sometimes (5–29%)
Infantile spasms	Sometimes (5–29%)
Loss of ability to walk	Sometimes (5–29%)
Periventricular leukomalacia	Sometimes (5–29%)
Ventriculomegaly	Sometimes (5–29%)
Axonal regeneration	Not recorded
Decreased number of large peripheral myelinated nerve fibers	Not recorded
Decreased reflex response	Not recorded
Paralysis	Not recorded
Peripheral hypomyelination	Not recorded
Peripheral neuropathy	Not recorded

Abnormality of the eye

Trait	How often it is seen
Optic atrophy	Often (30–79%)
Rod-cone dystrophy	Often (30–79%)
Astigmatism	Sometimes (5–29%)
Cerebral visual impairment	Sometimes (5–29%)
Cross-eyed	Sometimes (5–29%)
Involuntary, rapid, rhythmic eye movements	Sometimes (5–29%)
Drooping upper eyelid	Rarely (1–4%)
Decreased clarity of vision	Not recorded
Difficulties with night vision	Not recorded
Extreme sensitivity of the eyes to light	Not recorded
Limited peripheral vision	Not recorded
Macular atrophy	Not recorded
Optic disc pallor	Not recorded
Spicular pigmentation of the retina	Not recorded

Abnormality of limbs

Trait	How often it is seen
Distal lower limb muscle weakness	Always
Distal upper limb muscle weakness	Always
Abnormal feet structure	Very often (80–99%)
High-arched foot	Very often (80–99%)
Abnormality of the hand	Often (30–79%)
Club feet	Often (30–79%)
Upper limb amyotrophy	Often (30–79%)
Dropped arches	Sometimes (5–29%)
Hip dislocation	Sometimes (5–29%)
Increased muscle tone of arm or leg	Sometimes (5–29%)
Pes valgus	Sometimes (5–29%)
Claw hand deformity	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Bulbous nose	Sometimes (5–29%)
Eye folds	Sometimes (5–29%)
Facial droop	Sometimes (5–29%)
Flat back of skull	Sometimes (5–29%)
Frontal bossing	Sometimes (5–29%)
Nasal tip, upturned	Sometimes (5–29%)
Pit in front of the ear	Sometimes (5–29%)
Thin red part of the upper lip	Sometimes (5–29%)
Widely spaced teeth	Sometimes (5–29%)
Wry neck	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Distal lower limb amyotrophy	Always
Distal muscle wasting	Often (30–79%)
Lower limb amyotrophy	Often (30–79%)
Proximal neurogenic muscle weakness	Often (30–79%)
Bulbar palsy	Sometimes (5–29%)
Low muscle tone in trunk	Sometimes (5–29%)
Scoliosis	Sometimes (5–29%)
Weakness of outermost muscles	Not recorded

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Nonspherocytic hemolytic anemia	Always
Reduced erythrocyte hexokinase activity	Always
Increased immature red blood cells	Not recorded
Normochromic anemia	Not recorded
Normocytic anemia	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Jaundice	Always
Feeding difficulties	Often (30–79%)
Gallbladder inflammation	Not recorded
Gallstones	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Increased spleen size	Not recorded
Narrowing of blood vessels in back of eye	Not recorded

Abnormality of the respiratory system

Trait	How often it is seen
Laryngotracheomalacia	Sometimes (5–29%)
Respiratory tract infection	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Hearing impairment	Sometimes (5–29%)

Abnormality of the voice

Trait	How often it is seen
Inability to produce voice sounds	Rarely (1–4%)

Growth abnormality

Trait	How often it is seen
Short stature	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
High blood bilirubin levels	Not recorded

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 HK1 and how often each is seen. Find out more at hpo.jax.org.

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