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	Cât de frecvent apare
Angiokeratoma	Foarte des (80–99%)
Cardiac failure	Foarte des (80–99%)
Mini stroke	Foarte des (80–99%)
Mucosal telangiectasiae	Foarte des (80–99%)
Telangiectasia of the skin	Foarte des (80–99%)
Abnormal aortic valve morphology	Des (30–79%)
Bundle branch block	Des (30–79%)
Interruption of electrical communication between upper and lower chambers of heart	Des (30–79%)
Mitral regurgitation	Des (30–79%)
Abnormal endocardium morphology	Uneori (5–29%)
Abnormal heart rate	Uneori (5–29%)
Abnormal myocardium morphology	Uneori (5–29%)
Angina pectoris	Uneori (5–29%)
Enlarged and thickened heart muscle	Uneori (5–29%)
High blood pressure	Uneori (5–29%)
Left ventricular hypertrophy	Uneori (5–29%)
Stroke	Uneori (5–29%)
Angiokeratoma corporis diffusum	Neînregistrat
Heart attack	Neînregistrat
Ventricular septal hypertrophy	Neînregistrat

Laboratory abnormality

Trait	Cât de frecvent apare
Abnormal glycosphingolipid metabolism	Foarte des (80–99%)
Blood in urine	Foarte des (80–99%)
Decreased alpha-galactosidase A activity	Foarte des (80–99%)
Elevated circulating globotriaosylceramide concentration	Foarte des (80–99%)
Abnormal circulating lipid concentration	Des (30–79%)
Elevated lipids in blood	Des (30–79%)
Heat intolerance	Des (30–79%)
High urine protein levels	Des (30–79%)
Fever	Uneori (5–29%)
Swelling caused by excess lymph fluid under skin	Uneori (5–29%)
Lipiduria	Neînregistrat
Urinary mulberry cells	Neînregistrat

Abnormality of the nervous system

Trait	Cât de frecvent apare
Acroparesthesia	Des (30–79%)
Behavioral abnormality	Des (30–79%)
Cognitive impairment	Des (30–79%)
Anxiety	Uneori (5–29%)
Depression	Uneori (5–29%)
Epilepsy	Uneori (5–29%)
Loss of developmental milestones	Uneori (5–29%)
Abnormal autonomic nervous system physiology	Neînregistrat
Muscle twitch	Neînregistrat
Pins and needles feeling	Neînregistrat

Abnormality of the digestive system

Trait	Cât de frecvent apare
Abdominal pain	Foarte des (80–99%)
Malabsorption	Foarte des (80–99%)
Anorexia	Des (30–79%)
Nausea and vomiting	Des (30–79%)
Achalasia	Uneori (5–29%)
Diarrhea	Neînregistrat
Nausea	Neînregistrat
Tenesmus	Neînregistrat
Vomiting	Neînregistrat

Abnormality of the eye

Trait	Cât de frecvent apare
Corneal dystrophy	Foarte des (80–99%)
Corneal opacity	Foarte des (80–99%)
Clouding of the lens of the eye	Des (30–79%)
Cornea verticillata	Des (30–79%)
Optic atrophy	Des (30–79%)

Abnormality of the genitourinary system

Trait	Cât de frecvent apare
Nephrotic syndrome	Foarte des (80–99%)
Renal failure	Foarte des (80–99%)
Abnormal renal tubule morphology	Des (30–79%)
Kidney damage	Des (30–79%)
Glomerulopathy	Uneori (5–29%)

Abnormality of the respiratory system

Trait	Cât de frecvent apare
Emphysema	Des (30–79%)
Breathing difficulty	Uneori (5–29%)
Chronic pulmonary obstruction	Uneori (5–29%)
Respiratory function loss	Uneori (5–29%)
Obstructive lung disease	Neînregistrat

Constitutional symptom

Trait	Cât de frecvent apare
Fatigue	Foarte des (80–99%)
Joint pain	Foarte des (80–99%)
Muscle ache	Foarte des (80–99%)
Chronic pain	Des (30–79%)
Decreased ability to exercise	Des (30–79%)

Abnormality of the ear

Trait	Cât de frecvent apare
Hearing impairment	Foarte des (80–99%)
Ringing in ears	Des (30–79%)
Dizziness	Uneori (5–29%)
Sensorineural hearing impairment	Uneori (5–29%)

Abnormality of the integument

Trait	Cât de frecvent apare
Decreased ability to sweat	Foarte des (80–99%)
Firm lump under the skin	Foarte des (80–99%)
Hyperkeratosis	Foarte des (80–99%)
Excessive sweating	Rar (1–4%)

Abnormality of head or neck

Trait	Cât de frecvent apare
Small dilated blood vessels near membrane covering front of eye and eyelids	Foarte des (80–99%)
Coarse facial features	Des (30–79%)
Full lower lip	Des (30–79%)

Abnormality of the musculoskeletal system

Trait	Cât de frecvent apare
Arthritis	Foarte des (80–99%)
Low solidness and mass of the bones	Uneori (5–29%)
Muscle spasm	Neînregistrat

Abnormality of limbs

Trait	Cât de frecvent apare
Abnormality of the thighbone	Uneori (5–29%)
Abnormality of the hand	Neînregistrat

Abnormality of the endocrine system

Trait	Cât de frecvent apare
Delayed puberty	Des (30–79%)
Diabetes insipidus	Uneori (5–29%)

Abnormality of blood and blood-forming tissues

Trait	Cât de frecvent apare
Low number of red blood cells or hemoglobin	Foarte des (80–99%)

Growth abnormality

Trait	Cât de frecvent apare
Short stature	Des (30–79%)

Cât de frecvent apare în rândul persoanelor cu una dintre afecțiunile asociate genei, cel mai des întâlnit dintre acestea, conform Human Phenotype Ontology. Aceste pagini descriu trăsături și cercetările din spatele lor; ele nu reprezintă un diagnostic, iar pentru simptome trebuie să vă adresați medicului sau consilierului genetic.

De unde provin aceste informații

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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