Trăsături

Trăsături asociate cu NEU1

neuraminidase 1

Human Phenotype Ontology asociază 95 trăsături cu NEU1, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

NEU1

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Abnormal gait	Foarte des (80–99%)
Abnormal speech pattern	Foarte des (80–99%)
Abnormality of movement	Foarte des (80–99%)
Ataxia	Foarte des (80–99%)
Epilepsy	Foarte des (80–99%)
Global developmental delay	Foarte des (80–99%)
Jerking	Foarte des (80–99%)
Slurred speech	Foarte des (80–99%)
Decreased nerve conduction velocity	Des (30–79%)
EEG abnormality	Des (30–79%)
Intellectual disability	Des (30–79%)
Tremor	Des (30–79%)
Generalized myoclonic seizure	Uneori (5–29%)
Lack of coordination of movement	Uneori (5–29%)
Loss of ability to walk	Uneori (5–29%)
Loss of developmental milestones	Uneori (5–29%)
Motor delay	Uneori (5–29%)
Too much cerebrospinal fluid in the brain	Uneori (5–29%)
Intellectual disability, severe	Rar (1–4%)
Increased reflexes	Neînregistrat

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Abnormal skeletal development	Foarte des (80–99%)
Delayed bone maturation	Foarte des (80–99%)
Dysostosis multiplex	Foarte des (80–99%)
Pigeon chest	Foarte des (80–99%)
Scoliosis	Foarte des (80–99%)
Shorter than typical length between neck and abdomen	Foarte des (80–99%)
Abnormal vertebral body morphology	Des (30–79%)
Decreased muscle tone in infant	Des (30–79%)
Hernia	Des (30–79%)
Low muscle tone	Des (30–79%)
Muscle degeneration	Des (30–79%)
Muscle weakness	Des (30–79%)
Hunched back	Uneori (5–29%)
Involuntary muscle stiffness, contraction, or spasm	Uneori (5–29%)
Lower limb spasticity	Uneori (5–29%)
Generalized decreased muscle tone	Neînregistrat
Speckled calcifications in end part of bone	Neînregistrat

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Corneal opacity	Foarte des (80–99%)
Involuntary, rapid, rhythmic eye movements	Foarte des (80–99%)
Noninflammatory retina disease	Foarte des (80–99%)
Progressive loss of vision	Foarte des (80–99%)
Visual impairment	Foarte des (80–99%)
Clouding of the lens of the eye	Des (30–79%)
Clouding of the lens of the eye at birth	Uneori (5–29%)
Cross-eyed	Uneori (5–29%)
Hypoplasia of the fovea	Uneori (5–29%)
Optic atrophy	Uneori (5–29%)
Visual loss	Uneori (5–29%)
Yellow/white retinal lesion	Uneori (5–29%)

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Cherry red spot of the macula	Foarte des (80–99%)
Coarse facial features	Foarte des (80–99%)
Full lower lip	Foarte des (80–99%)
Wide nasal bridge	Foarte des (80–99%)
Frontal bossing	Des (30–79%)
Flattened bony protrusion above eyes	Uneori (5–29%)
Gum enlargement	Uneori (5–29%)
Protruding tongue	Uneori (5–29%)
Big calvaria	Rar (1–4%)
High forehead	Rar (1–4%)
Facial puffiness	Neînregistrat

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Increased spleen size	Foarte des (80–99%)
Vascular skin abnormality	Foarte des (80–99%)
Enlarged liver and spleen	Des (30–79%)
Abnormality of the heart	Uneori (5–29%)
Spider veins	Uneori (5–29%)
Abnormal EKG	Rar (1–4%)
Disease of the heart muscle	Neînregistrat
Enlarged heart	Neînregistrat

Laboratory abnormality

Trăsătură	Cât de frecvent apare
Reduced tissue neuraminidase activity	Întotdeauna
Abnormal urinary amino-acid findings	Foarte des (80–99%)
Increased urinary O-linked sialopeptides	Foarte des (80–99%)
Urinary excretion of sialylated oligosaccharides	Foarte des (80–99%)
Fluid retention	Des (30–79%)
High urine protein levels	Neînregistrat
Hydrops fetalis	Neînregistrat

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Visceromegaly	Foarte des (80–99%)
Accumulation of fluid in the abdomen	Des (30–79%)
Enlarged liver	Uneori (5–29%)
Inguinal hernia	Uneori (5–29%)
Poor swallowing	Uneori (5–29%)
Umbilical hernia	Uneori (5–29%)

Abnormality of blood and blood-forming tissues

Trăsătură	Cât de frecvent apare
Petechiae	Uneori (5–29%)
Bone-marrow foam cells	Neînregistrat
Vacuolated lymphocytes	Neînregistrat

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Sensorineural hearing impairment	Foarte des (80–99%)
Hearing impairment	Des (30–79%)
Low-set ears	Des (30–79%)

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Hyperkeratosis	Foarte des (80–99%)
Generalized hypertrichosis	Uneori (5–29%)

Abnormality of the respiratory system

Trăsătură	Cât de frecvent apare
Abnormality of the respiratory system	Uneori (5–29%)
Respiratory tract infection	Uneori (5–29%)

Abnormality of limbs

Trăsătură	Cât de frecvent apare
More than five fingers or toes on hands or feet	Rar (1–4%)

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Abnormality of the kidney	Uneori (5–29%)

Abnormality of the voice

Trăsătură	Cât de frecvent apare
Inability to produce voice sounds	Uneori (5–29%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Short stature	Foarte des (80–99%)

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

Human Phenotype Ontology, versiunea 2026-09-01: trăsăturile asociate cu NEU1 și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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