Trăsături

Trăsături asociate cu GALC

galactosylceramidase

Human Phenotype Ontology asociază 129 trăsături cu GALC, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

GALC

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Inappropriate crying	Foarte des (80–99%)
Irritability	Foarte des (80–99%)
Mental deterioration	Foarte des (80–99%)
Nerve damage causing decreased feeling and movement	Foarte des (80–99%)
Upper motor neuron dysfunction	Foarte des (80–99%)
Worsening neurological symptoms	Foarte des (80–99%)
Abnormal CNS myelination	Des (30–79%)
Abnormal corpus callosum morphology	Des (30–79%)
Abnormal gait	Des (30–79%)
Abnormal periventricular white matter morphology	Des (30–79%)
Abnormal pons morphology	Des (30–79%)
Abnormal shape of midbrain	Des (30–79%)
Ataxia	Des (30–79%)
Babinski sign	Des (30–79%)
Behavioral abnormality	Des (30–79%)
Clumsiness	Des (30–79%)
CNS demyelination	Des (30–79%)
Decreased nerve conduction velocity	Des (30–79%)
Delayed brainstem auditory evoked response conduction time	Des (30–79%)
EEG with persistent abnormal rhythmic activity	Des (30–79%)
Elevated brain choline level by MRS	Des (30–79%)
Hoffmann sign	Des (30–79%)
Hyperactive deep tendon reflexes	Des (30–79%)
Loss of ability to walk	Des (30–79%)
Loss of developmental milestones	Des (30–79%)
Loss of speech	Des (30–79%)
Motor delay	Des (30–79%)
Peripheral neuropathy	Des (30–79%)
Psychomotor deterioration	Des (30–79%)
Reduced brain glutamate level by MRS	Des (30–79%)
Reduced brain N-acetyl aspartate level by MRS	Des (30–79%)
Abnormal medulla oblongata morphology	Uneori (5–29%)
Abnormal pyramidal tract morphology	Uneori (5–29%)
Acroparesthesia	Uneori (5–29%)
Attention deficit	Uneori (5–29%)
Can't control feelings	Uneori (5–29%)
Decreased reflex response	Uneori (5–29%)
Dementia	Uneori (5–29%)
Difficulty articulating speech	Uneori (5–29%)
Diffuse cerebral atrophy	Uneori (5–29%)
EEG abnormality	Uneori (5–29%)
Encephalopathy	Uneori (5–29%)
Epilepsy	Uneori (5–29%)
Febrile seizure (within the age range of 3 months to 6 years)	Uneori (5–29%)
Generalized myoclonic seizure	Uneori (5–29%)
Global developmental delay	Uneori (5–29%)
Hyperesthesia	Uneori (5–29%)
Hypointensity of cerebral white matter on MRI	Uneori (5–29%)
Impaired touch sensation	Uneori (5–29%)
Increased reflexes	Uneori (5–29%)
Jerking	Uneori (5–29%)
Paralysis of all four limbs	Uneori (5–29%)
Paralysis on one side of body	Uneori (5–29%)
Peripheral demyelination	Uneori (5–29%)
Rise in pressure inside skull	Uneori (5–29%)
Slurred speech	Uneori (5–29%)
Somatic sensory dysfunction	Uneori (5–29%)
Too much cerebrospinal fluid in the brain	Uneori (5–29%)
Tremor	Uneori (5–29%)
Abnormal corticospinal tract morphology	Rar (1–4%)
Tetraparesis	Rar (1–4%)
Wide based walk	Rar (1–4%)
Ongoing loss of nerve cells	Neînregistrat
Progressive degeneration of movement	Neînregistrat

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Progressive spasticity	Întotdeauna
Functional motor deficit	Foarte des (80–99%)
Involuntary muscle stiffness, contraction, or spasm	Foarte des (80–99%)
Frequent falls	Des (30–79%)
Low muscle tone in trunk	Des (30–79%)
Lower limb spasticity	Des (30–79%)
Muscle degeneration	Des (30–79%)
Progressive spastic paraparesis	Des (30–79%)
Spastic diplegia	Des (30–79%)
Spastic paraparesis	Des (30–79%)
Decerebrate rigidity	Uneori (5–29%)
Decorticate rigidity	Uneori (5–29%)
Muscle spasm	Uneori (5–29%)
Muscle stiffness	Uneori (5–29%)
Muscle weakness	Uneori (5–29%)
Opisthotonus	Uneori (5–29%)
Poor head control	Uneori (5–29%)
Scoliosis	Uneori (5–29%)
Neck muscle weakness	Rar (1–4%)
Low muscle tone	Neînregistrat
Spasticity and rigidity of muscles	Neînregistrat

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Abnormality of visual evoked potentials	Foarte des (80–99%)
Inward turning cross eyed	Des (30–79%)
Visual loss	Des (30–79%)
Blindness	Uneori (5–29%)
Extreme sensitivity of the eyes to light	Uneori (5–29%)
Optic atrophy	Uneori (5–29%)
Slow pupillary light response	Uneori (5–29%)
Visual impairment	Uneori (5–29%)
Abnormal flash visual evoked potentials	Neînregistrat
Involuntary, rapid, rhythmic eye movements	Neînregistrat

Laboratory abnormality

Trăsătură	Cât de frecvent apare
Reduced tissue galactocerebrosidase activity	Întotdeauna
Abnormal circulating enzyme concentration or activity	Foarte des (80–99%)
Hyperpyrexia	Foarte des (80–99%)
Increased CSF protein concentration	Foarte des (80–99%)
Unexplained fevers	Foarte des (80–99%)
Temperature instability	Uneori (5–29%)
Episodic fever	Neînregistrat

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Hand clenching	Des (30–79%)
Abnormal rhythmic movements of ankle	Uneori (5–29%)
Decreased arm strength	Uneori (5–29%)
High-arched foot	Uneori (5–29%)
Lower limb muscle weakness	Uneori (5–29%)
Weak shoulder muscles	Uneori (5–29%)

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Feeding difficulties	Des (30–79%)
Acid reflux	Uneori (5–29%)
Nasogastric tube feeding in infancy	Uneori (5–29%)
Neuromuscular dysphagia	Uneori (5–29%)
Vomiting	Uneori (5–29%)

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Decreased head circumference	Uneori (5–29%)
Increased head circumference	Uneori (5–29%)
Cherry red spot of the macula	Rar (1–4%)

Abnormality of the respiratory system

Trăsătură	Cât de frecvent apare
Breathing difficulties	Uneori (5–29%)
Respiratory failure	Uneori (5–29%)
Softening of voice box tissue	Rar (1–4%)

Growth abnormality

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

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Abnormal erection	Rar (1–4%)
Loss of bladder control	Rar (1–4%)

Abnormality of blood and blood-forming tissues

Trăsătură	Cât de frecvent apare
Autoimmune thrombocytopenia	Neînregistrat

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Abnormal heart rate variability	Uneori (5–29%)

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Hearing impairment	Des (30–79%)

Abnormality of the immune system

Trăsătură	Cât de frecvent apare
Recurrent infections	Uneori (5–29%)

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Patchy loss of skin color	Rar (1–4%)

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

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