Traits

Traits linked to GLA

galactosidase alpha

The Human Phenotype Ontology links 91 traits to GLA, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the cardiovascular system

Trait	How often it is seen
Angiokeratoma	Very often (80–99%)
Cardiac failure	Very often (80–99%)
Mini stroke	Very often (80–99%)
Mucosal telangiectasiae	Very often (80–99%)
Telangiectasia of the skin	Very often (80–99%)
Abnormal aortic valve morphology	Often (30–79%)
Bundle branch block	Often (30–79%)
Interruption of electrical communication between upper and lower chambers of heart	Often (30–79%)
Mitral regurgitation	Often (30–79%)
Abnormal endocardium morphology	Sometimes (5–29%)
Abnormal heart rate	Sometimes (5–29%)
Abnormal myocardium morphology	Sometimes (5–29%)
Angina pectoris	Sometimes (5–29%)
Enlarged and thickened heart muscle	Sometimes (5–29%)
High blood pressure	Sometimes (5–29%)
Left ventricular hypertrophy	Sometimes (5–29%)
Stroke	Sometimes (5–29%)
Angiokeratoma corporis diffusum	Not recorded
Heart attack	Not recorded
Ventricular septal hypertrophy	Not recorded

Laboratory abnormality

Trait	How often it is seen
Abnormal glycosphingolipid metabolism	Very often (80–99%)
Blood in urine	Very often (80–99%)
Decreased alpha-galactosidase A activity	Very often (80–99%)
Elevated circulating globotriaosylceramide concentration	Very often (80–99%)
Abnormal circulating lipid concentration	Often (30–79%)
Elevated lipids in blood	Often (30–79%)
Heat intolerance	Often (30–79%)
High urine protein levels	Often (30–79%)
Fever	Sometimes (5–29%)
Swelling caused by excess lymph fluid under skin	Sometimes (5–29%)
Lipiduria	Not recorded
Urinary mulberry cells	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Acroparesthesia	Often (30–79%)
Behavioral abnormality	Often (30–79%)
Cognitive impairment	Often (30–79%)
Anxiety	Sometimes (5–29%)
Depression	Sometimes (5–29%)
Epilepsy	Sometimes (5–29%)
Loss of developmental milestones	Sometimes (5–29%)
Abnormal autonomic nervous system physiology	Not recorded
Muscle twitch	Not recorded
Pins and needles feeling	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Abdominal pain	Very often (80–99%)
Malabsorption	Very often (80–99%)
Anorexia	Often (30–79%)
Nausea and vomiting	Often (30–79%)
Achalasia	Sometimes (5–29%)
Diarrhea	Not recorded
Nausea	Not recorded
Tenesmus	Not recorded
Vomiting	Not recorded

Abnormality of the eye

Trait	How often it is seen
Corneal dystrophy	Very often (80–99%)
Corneal opacity	Very often (80–99%)
Clouding of the lens of the eye	Often (30–79%)
Cornea verticillata	Often (30–79%)
Optic atrophy	Often (30–79%)

Abnormality of the genitourinary system

Trait	How often it is seen
Nephrotic syndrome	Very often (80–99%)
Renal failure	Very often (80–99%)
Abnormal renal tubule morphology	Often (30–79%)
Kidney damage	Often (30–79%)
Glomerulopathy	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Emphysema	Often (30–79%)
Breathing difficulty	Sometimes (5–29%)
Chronic pulmonary obstruction	Sometimes (5–29%)
Respiratory function loss	Sometimes (5–29%)
Obstructive lung disease	Not recorded

Constitutional symptom

Trait	How often it is seen
Fatigue	Very often (80–99%)
Joint pain	Very often (80–99%)
Muscle ache	Very often (80–99%)
Chronic pain	Often (30–79%)
Decreased ability to exercise	Often (30–79%)

Abnormality of the ear

Trait	How often it is seen
Hearing impairment	Very often (80–99%)
Ringing in ears	Often (30–79%)
Dizziness	Sometimes (5–29%)
Sensorineural hearing impairment	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Decreased ability to sweat	Very often (80–99%)
Firm lump under the skin	Very often (80–99%)
Hyperkeratosis	Very often (80–99%)
Excessive sweating	Rarely (1–4%)

Abnormality of head or neck

Trait	How often it is seen
Small dilated blood vessels near membrane covering front of eye and eyelids	Very often (80–99%)
Coarse facial features	Often (30–79%)
Full lower lip	Often (30–79%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Arthritis	Very often (80–99%)
Low solidness and mass of the bones	Sometimes (5–29%)
Muscle spasm	Not recorded

Abnormality of limbs

Trait	How often it is seen
Abnormality of the thighbone	Sometimes (5–29%)
Abnormality of the hand	Not recorded

Abnormality of the endocrine system

Trait	How often it is seen
Delayed puberty	Often (30–79%)
Diabetes insipidus	Sometimes (5–29%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Low number of red blood cells or hemoglobin	Very often (80–99%)

Growth abnormality

Trait	How often it is seen
Short stature	Often (30–79%)

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

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