Trăsături

Trăsături asociate cu UFSP2

UFM1 specific peptidase 2

Human Phenotype Ontology asociază 85 trăsături cu UFSP2, 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
Global developmental delay	Întotdeauna
Intellectual disability	Întotdeauna
Small cerebellum	Întotdeauna
Waddling gait	Întotdeauna
Encephalopathy	Foarte des (80–99%)
Abnormality of coordination	Des (30–79%)
Absent speech development	Des (30–79%)
Decreased reflex response	Des (30–79%)
Delayed speech and language development	Des (30–79%)
EEG with multifocal slow activity	Des (30–79%)
Epilepsy	Des (30–79%)
Infantile spasms	Des (30–79%)
Loss of developmental milestones	Des (30–79%)
Abnormal corpus callosum morphology	Uneori (5–29%)
Abnormal gait	Uneori (5–29%)
Abnormal myelination	Uneori (5–29%)
Ataxia	Uneori (5–29%)
Attention deficit	Uneori (5–29%)
Autism	Uneori (5–29%)
Behavioral abnormality	Uneori (5–29%)
Brain degeneration	Uneori (5–29%)
Degeneration of cerebrum	Uneori (5–29%)
Diminished deep tendon reflex	Uneori (5–29%)
Disorder of involuntary muscle movements	Uneori (5–29%)
Focal clonic seizure	Uneori (5–29%)
Grand mal seizures	Uneori (5–29%)
Hypsarrhythmia	Uneori (5–29%)
Impulsivity	Uneori (5–29%)
Involuntary movements	Uneori (5–29%)
Jerking	Uneori (5–29%)
Mental deterioration	Uneori (5–29%)
Tonic seizure	Uneori (5–29%)
Tremor	Uneori (5–29%)
Unsteady walk	Uneori (5–29%)
Repeated seizures without recovery between them	Rar (1–4%)

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Bowed legs	Întotdeauna
Irregular acetabular roof	Întotdeauna
Metaphyseal dysplasia	Întotdeauna
Abnormal maturation of thigh bone head and neck	Foarte des (80–99%)
Abnormality of the end part of the innermost thighbone	Foarte des (80–99%)
Broad femoral neck	Foarte des (80–99%)
Coxa vara	Uneori (5–29%)
Increased muscle tone of arm or leg	Uneori (5–29%)
Avascular necrosis of the capital femoral epiphysis	Neînregistrat
Delayed maturation of wrist bone	Neînregistrat
Flat end part of innermost thighbone	Neînregistrat
Irregular end part of innermost thighbone	Neînregistrat
Outward bow-leggedness	Neînregistrat
Shallow acetabular fossae	Neînregistrat
Wide metaphysis of innermost thighbone	Neînregistrat

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Delayed bone maturation	Întotdeauna
Low solidness and mass of the bones	Întotdeauna
Abnormal bone maturation	Foarte des (80–99%)
Abnormal formation of the hip	Foarte des (80–99%)
Abnormal shape of end part of bone	Foarte des (80–99%)
Abnormality of bone mineral density	Foarte des (80–99%)
Degenerative joint disease	Foarte des (80–99%)
Low muscle tone	Foarte des (80–99%)
Generalized decreased muscle tone	Des (30–79%)
Hunched back	Uneori (5–29%)
Involuntary muscle stiffness, contraction, or spasm	Uneori (5–29%)
Poor head control	Uneori (5–29%)
Rigidity	Uneori (5–29%)
Scoliosis	Uneori (5–29%)
Flattened vertebrae	Neînregistrat

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Esodeviation	Des (30–79%)
Drooping upper eyelid	Uneori (5–29%)
Involuntary, rapid, rhythmic eye movements	Uneori (5–29%)
Inward turning cross eyed	Uneori (5–29%)
Outward facing eye ball	Uneori (5–29%)
Abnormal involuntary eye movements	Rar (1–4%)
Abnormality of vision	Rar (1–4%)
Optic atrophy	Rar (1–4%)
Retina degeneration	Rar (1–4%)

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Abnormally small head	Uneori (5–29%)
Downward slanting of the opening between the eyelids	Uneori (5–29%)
Failure of development of between one and six teeth	Uneori (5–29%)
High forehead	Uneori (5–29%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Short stature	Întotdeauna
Faltering weight	Des (30–79%)
Growth delay as children	Des (30–79%)

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Acid reflux	Uneori (5–29%)
Feeding difficulties	Uneori (5–29%)

Abnormality of prenatal development or birth

Trăsătură	Cât de frecvent apare
Less than 10 fetal movements in 12 hours	Uneori (5–29%)

Constitutional symptom

Trăsătură	Cât de frecvent apare
Joint pain	Neînregistrat

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 UFSP2 și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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