Trăsături

Trăsături asociate cu GNE

glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase

Human Phenotype Ontology asociază 135 trăsături cu GNE, 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
Attention deficit	Foarte des (80–99%)
Communication delay	Foarte des (80–99%)
Epilepsy	Foarte des (80–99%)
Hyperactive movements	Foarte des (80–99%)
Intellectual disability, mild	Foarte des (80–99%)
Lou Gehrig's disease	Foarte des (80–99%)
Memory impairment	Foarte des (80–99%)
Pauses in breathing while sleeping	Foarte des (80–99%)
Abnormal gait	Des (30–79%)
Abnormal speech pattern	Des (30–79%)
Arm dystonia	Des (30–79%)
Brisk reflexes	Des (30–79%)
Bulbar signs	Des (30–79%)
CNS hypomyelination	Des (30–79%)
Delayed ability to walk	Des (30–79%)
Dystonia	Des (30–79%)
Global developmental delay	Des (30–79%)
High stepping	Des (30–79%)
Inability to walk	Des (30–79%)
Poor fine motor coordination	Des (30–79%)
Abnormality of the cerebellum	Uneori (5–29%)
Ataxia	Uneori (5–29%)
Axial dystonia	Uneori (5–29%)
Behavioral abnormality	Uneori (5–29%)
Chorea	Uneori (5–29%)
Clonus	Uneori (5–29%)
Cognitive impairment	Uneori (5–29%)
Head titubation	Uneori (5–29%)
Loss of articulate speech	Uneori (5–29%)
Oromandibular dystonia	Uneori (5–29%)
Parkinsonism	Uneori (5–29%)
Toe walking	Uneori (5–29%)

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Distal muscle wasting	Foarte des (80–99%)
Double-Jointed	Foarte des (80–99%)
Dysostosis multiplex	Foarte des (80–99%)
Fatty replacement of skeletal muscle	Foarte des (80–99%)
Generalized decreased muscle tone	Foarte des (80–99%)
Lower limb spasticity	Foarte des (80–99%)
Muscle degeneration	Foarte des (80–99%)
Muscle weakness	Foarte des (80–99%)
Neuropathic spinal arthropathy	Foarte des (80–99%)
Rimmed vacuoles	Foarte des (80–99%)
Uncontrollable movement in upper arms	Foarte des (80–99%)
EMG: myopathic abnormalities	Des (30–79%)
EMG: myotonic discharges	Des (30–79%)
EMG: positive sharp waves	Des (30–79%)
Increased variability in muscle fiber diameter	Des (30–79%)
Limited shoulder movement	Des (30–79%)
Lower-limb joint contracture	Des (30–79%)
Muscle fiber degeneration	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%)
Abnormal right hemidiaphragm morphology	Uneori (5–29%)
Lower limb amyotrophy	Uneori (5–29%)
Neck flexion weakness	Uneori (5–29%)
Opisthotonus	Uneori (5–29%)
Proximal neurogenic muscle weakness	Uneori (5–29%)
Scoliosis	Uneori (5–29%)
Deposits immunoreactive to beta-amyloid protein	Neînregistrat
Small chest	Neînregistrat

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Abnormal facial shape	Foarte des (80–99%)
Coarse facial features	Foarte des (80–99%)
Eye folds	Foarte des (80–99%)
Fullness around the eyes	Foarte des (80–99%)
High, narrow palate	Foarte des (80–99%)
Prominent forehead	Foarte des (80–99%)
Smooth philtrum	Foarte des (80–99%)
Thin red part of the upper lip	Foarte des (80–99%)
Wide nasal bridge	Foarte des (80–99%)
Abnormally large tongue	Des (30–79%)
Big calvaria	Des (30–79%)
Abnormally small head	Uneori (5–29%)
Bell's palsy	Uneori (5–29%)
Retrocollis	Uneori (5–29%)
Frontal bossing	Neînregistrat
High palate	Neînregistrat
Long philtrum	Neînregistrat
Low hairline at back of neck	Neînregistrat
Monobrow	Neînregistrat

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Foot drop	Foarte des (80–99%)
Long big toe	Foarte des (80–99%)
Lower limb muscle weakness	Foarte des (80–99%)
Tibialis muscle weakness	Foarte des (80–99%)
Webbed 2nd and 3rd toes	Foarte des (80–99%)
Absent ankle reflexes	Des (30–79%)
Distal lower limb muscle weakness	Des (30–79%)
Hip flexor weakness	Des (30–79%)
Limited wrist extension	Des (30–79%)
Weak shoulder muscles	Des (30–79%)
Abnormal foot muscles	Uneori (5–29%)
Shoulder girdle muscle wasting	Uneori (5–29%)
Winged shoulder blade	Uneori (5–29%)
Weakness of long finger extensor muscles	Rar (1–4%)
Quadriceps weakness	Neînregistrat

Abnormality of blood and blood-forming tissues

Trăsătură	Cât de frecvent apare
Abnormally heavy bleeding during menstruation	Întotdeauna
Bruising susceptibility	Întotdeauna
Large platelets	Întotdeauna
Low platelet count	Întotdeauna
Petechiae	Întotdeauna
Recurring nosebleed	Întotdeauna
Prolonged partial thromboplastin time	Foarte des (80–99%)
Prolonged prothrombin time	Foarte des (80–99%)
Bloody nose	Des (30–79%)
Increased megakaryocyte count	Des (30–79%)

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Enlarged liver	Întotdeauna
Gallstones	Foarte des (80–99%)
Intermittent abdominal pain	Foarte des (80–99%)
Gastrostomy tube feeding in infancy	Uneori (5–29%)
Poor swallowing	Uneori (5–29%)
Belly sticks out	Neînregistrat
Inguinal hernia	Neînregistrat

Laboratory abnormality

Trăsătură	Cât de frecvent apare
Increased level of N-acetylneuraminic acid in urine	Întotdeauna
High liver enzymes	Foarte des (80–99%)
Laboratory abnormality	Foarte des (80–99%)
Mildly elevated creatine kinase	Foarte des (80–99%)
Elevated blood creatine phosphokinase	Neînregistrat

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Enlarged liver and spleen	Foarte des (80–99%)
Increased spleen size	Des (30–79%)
Disease of the heart muscle	Rar (1–4%)

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Wide-set eyes	Foarte des (80–99%)
Involuntary, rapid, rhythmic eye movements	Uneori (5–29%)
Supranuclear gaze palsy	Uneori (5–29%)

Abnormal cellular phenotype

Trăsătură	Cât de frecvent apare
Abnormality of the mitochondrion	Foarte des (80–99%)
Muscle fiber inclusion bodies	Foarte des (80–99%)

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Excessive hairiness	Des (30–79%)
Excessive hairiness over body	Neînregistrat

Abnormality of the breast

Trăsătură	Cât de frecvent apare
Small nipples	Neînregistrat

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Low-set ears	Foarte des (80–99%)

Abnormality of the endocrine system

Trăsătură	Cât de frecvent apare
Underactive thyroid	Des (30–79%)

Abnormality of the genitourinary system

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

Abnormality of the respiratory system

Trăsătură	Cât de frecvent apare
Upper airway obstruction	Foarte des (80–99%)

Abnormality of the voice

Trăsătură	Cât de frecvent apare
Hoarse voice	Foarte des (80–99%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Wasting syndrome	Uneori (5–29%)

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

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