Trăsături

Trăsături asociate cu ALG2

ALG2 alpha-1,3/1,6-mannosyltransferase

Human Phenotype Ontology asociază 96 trăsături cu ALG2, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

ALG2

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Delayed CNS myelination	Întotdeauna
Epileptic spasm	Întotdeauna
Hypsarrhythmia	Întotdeauna
Infantile spasms	Întotdeauna
Intellectual disability, severe	Întotdeauna
Motor delay	Întotdeauna
Severe global developmental delay	Întotdeauna
Abnormal peripheral nervous system synaptic transmission	Des (30–79%)
Abnormality of the nervous system	Des (30–79%)
Absent reflexes	Des (30–79%)
Delayed speech and language development	Des (30–79%)
Dystonia	Des (30–79%)
Epilepsy	Des (30–79%)
Favorable response of weakness to acetylcholine esterase inhibitors	Des (30–79%)
Focal T2 hyperintense basal ganglia lesion	Des (30–79%)
Global developmental delay	Des (30–79%)
Intellectual disability	Des (30–79%)
Poor eye contact	Des (30–79%)
Thin corpus callosum	Des (30–79%)
Ventriculomegaly	Des (30–79%)
Abnormal basal ganglia MRI signal intensity	Uneori (5–29%)
Abnormal gait	Uneori (5–29%)
Cerebral hypomyelination	Uneori (5–29%)
Hyperintensity of cerebral white matter on MRI	Uneori (5–29%)
Lateral ventricle dilatation	Uneori (5–29%)
Underdevelopment of part of brain called corpus callosum	Uneori (5–29%)
Waddling gait	Uneori (5–29%)
Widened subarachnoid space	Uneori (5–29%)
Increased reflexes	Neînregistrat

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	Întotdeauna
Fatigable weakness	Întotdeauna
Increased variability in muscle fiber diameter	Întotdeauna
Centrally nucleated skeletal muscle fibers	Des (30–79%)
Distal joint hypermobility	Des (30–79%)
Double-Jointed	Des (30–79%)
Generalized decreased muscle tone	Des (30–79%)
Increased jitter at single fiber EMG	Des (30–79%)
Low muscle tone	Des (30–79%)
Muscle tissue disease	Des (30–79%)
Proximal neurogenic muscle weakness	Des (30–79%)
Type 1 muscle fiber predominance	Des (30–79%)
Difficulty running	Uneori (5–29%)
Difficulty walking up stairs	Uneori (5–29%)
Excessive inward curvature of lower spine	Uneori (5–29%)
Flexed joint that cannot be straightened	Uneori (5–29%)
Frequent falls	Uneori (5–29%)
Gowers sign	Uneori (5–29%)
Muscle spasm	Uneori (5–29%)
Poor head control	Uneori (5–29%)
Prominent swayback	Uneori (5–29%)
Ragged-red muscle fibers	Uneori (5–29%)
Scoliosis	Uneori (5–29%)
Tired easily	Uneori (5–29%)
Weakness of outermost muscles	Rar (1–4%)

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Weakness of facial musculature	Foarte des (80–99%)
Abnormal facial shape	Des (30–79%)
Abnormally small head	Des (30–79%)
Downward slanting of the opening between the eyelids	Des (30–79%)
Eye folds	Des (30–79%)
Flat face	Des (30–79%)
High palate	Des (30–79%)
Upward slanting of the opening between the eyelids	Des (30–79%)
Wide nasal bridge	Des (30–79%)
Bell's palsy	Uneori (5–29%)

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Cat eye	Întotdeauna
Involuntary, rapid, rhythmic eye movements	Întotdeauna
Visual impairment	Întotdeauna
Clouding of the lens of the eye	Des (30–79%)
Esodeviation	Des (30–79%)
Inward turning cross eyed	Des (30–79%)
Drooping upper eyelid	Uneori (5–29%)

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Limb-girdle muscle weakness	Întotdeauna
Dropped arches	Des (30–79%)
Inability to straighten knee	Des (30–79%)
Generalized weakness of limb muscles	Uneori (5–29%)
Winged shoulder blade	Uneori (5–29%)

Abnormality of blood and blood-forming tissues

Trăsătură	Cât de frecvent apare
Prolonged partial thromboplastin time	Întotdeauna
Reduced factor XI activity	Întotdeauna
Abnormality of coagulation	Des (30–79%)
Iron deficiency anemia	Des (30–79%)

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Enlarged liver	Întotdeauna
Acid reflux	Des (30–79%)
Diarrhea	Des (30–79%)
Nasogastric tube feeding	Des (30–79%)

Laboratory abnormality

Trăsătură	Cât de frecvent apare
Type I transferrin isoform profile	Întotdeauna
Abnormal circulating enzyme concentration or activity	Foarte des (80–99%)
Mildly elevated creatine kinase	Des (30–79%)
Elevated blood creatine phosphokinase	Uneori (5–29%)

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Low-set ears	Des (30–79%)
Sensorineural hearing impairment	Des (30–79%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Decreased body weight	Des (30–79%)
Short stature	Des (30–79%)

Abnormal cellular phenotype

Trăsătură	Cât de frecvent apare
Muscle fiber tubular inclusions	Des (30–79%)

Abnormality of the breast

Trăsătură	Cât de frecvent apare
Inverted nipples	Des (30–79%)

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Dilation of Virchow-Robin spaces	Des (30–79%)

Abnormality of the endocrine system

Trăsătură	Cât de frecvent apare
Underactive thyroid	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 ALG2 și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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