Trăsături

Trăsături asociate cu UBQLN2

ubiquilin 2

Human Phenotype Ontology asociază 89 trăsături cu UBQLN2, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Lou Gehrig's disease	Întotdeauna
Motor neuron atrophy	Foarte des (80–99%)
Ongoing loss of nerve cells	Foarte des (80–99%)
Abnormal gait	Des (30–79%)
Abnormal speech pattern	Des (30–79%)
Anxiety	Des (30–79%)
Arm dystonia	Des (30–79%)
Babinski sign	Des (30–79%)
Behavioral abnormality	Des (30–79%)
Brisk reflexes	Des (30–79%)
Bulbar signs	Des (30–79%)
Can't control feelings	Des (30–79%)
CNS hypomyelination	Des (30–79%)
Cognitive impairment	Des (30–79%)
Delayed ability to walk	Des (30–79%)
Depression	Des (30–79%)
Difficulty articulating speech	Des (30–79%)
Dystonia	Des (30–79%)
Hoffmann sign	Des (30–79%)
Inability to walk	Des (30–79%)
Increased reflexes	Des (30–79%)
Muscle twitch	Des (30–79%)
Paralysis	Des (30–79%)
Abnormality of the cerebellum	Uneori (5–29%)
Ataxia	Uneori (5–29%)
Axial dystonia	Uneori (5–29%)
Chorea	Uneori (5–29%)
Clonus	Uneori (5–29%)
Difficulty sleeping	Uneori (5–29%)
Frontotemporal dementia	Uneori (5–29%)
Global developmental delay	Uneori (5–29%)
Head titubation	Uneori (5–29%)
High stepping	Uneori (5–29%)
Jaw hyperreflexia	Uneori (5–29%)
Language impairment	Uneori (5–29%)
Loss of articulate speech	Uneori (5–29%)
Oromandibular dystonia	Uneori (5–29%)
Parkinsonism	Uneori (5–29%)
Toe walking	Uneori (5–29%)
Axonal loss	Neînregistrat
Gliosis	Neînregistrat
Involuntary writhing movements in fingers, hands, toes, and feet	Neînregistrat

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Distal muscle wasting	Foarte des (80–99%)
Generalized muscle weakness	Foarte des (80–99%)
Lower limb spasticity	Foarte des (80–99%)
Muscle degeneration	Foarte des (80–99%)
Muscle weakness	Foarte des (80–99%)
Uncontrollable movement in upper arms	Foarte des (80–99%)
Fatigable weakness of bulbar muscles	Des (30–79%)
Fatigable weakness of respiratory muscles	Des (30–79%)
Fatigable weakness of swallowing muscles	Des (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Des (30–79%)
Lower-limb joint contracture	Des (30–79%)
Muscle fiber degeneration	Des (30–79%)
Muscle spasm	Des (30–79%)
Progressive distal muscular atrophy	Des (30–79%)
Spastic diplegia	Des (30–79%)
Spasticity and rigidity of muscles	Des (30–79%)
Upper-limb joint contracture	Des (30–79%)
Weakness of outermost muscles	Des (30–79%)
Neck flexion weakness	Uneori (5–29%)
Opisthotonus	Uneori (5–29%)
Proximal neurogenic muscle weakness	Uneori (5–29%)
Scoliosis	Uneori (5–29%)
Spastic paraparesis	Uneori (5–29%)

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Decreased salivary flow	Des (30–79%)
Drooling	Des (30–79%)
Wasting of the tongue	Des (30–79%)
Abnormally small head	Uneori (5–29%)
Retrocollis	Uneori (5–29%)
Tongue twitching	Uneori (5–29%)

Abnormality of the respiratory system

Trăsătură	Cât de frecvent apare
Abnormality on pulmonary function testing	Des (30–79%)
Breathing difficulty	Des (30–79%)
Respiratory failure	Des (30–79%)
Orthopnea	Uneori (5–29%)
Laryngospasm	Rar (1–4%)

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Decreased arm strength	Des (30–79%)
Lower limb muscle weakness	Des (30–79%)
Foot drop	Uneori (5–29%)

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Poor swallowing	Des (30–79%)
Gastrostomy tube feeding in infancy	Uneori (5–29%)

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Involuntary, rapid, rhythmic eye movements	Uneori (5–29%)
Supranuclear gaze palsy	Uneori (5–29%)

Constitutional symptom

Trăsătură	Cât de frecvent apare
Fatigue	Des (30–79%)
Pain	Des (30–79%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Weight loss	Des (30–79%)
Wasting syndrome	Uneori (5–29%)

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Loss of bladder control	Uneori (5–29%)

Abnormality of the voice

Trăsătură	Cât de frecvent apare
Inability to produce voice sounds	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

Human Phenotype Ontology, versiunea 2026-09-01: trăsăturile asociate cu UBQLN2 și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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