Požymiai

Su GALC susiję požymiai

galactosylceramidase

Žmogaus fenotipo ontologija sieja 129 požymių su GALC, pagal kūno sistemas: požymiai, pastebimi žmonėms, sergantiems viena iš šio geno retųjų ligų.

GALC

Abnormality of the nervous system

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

Abnormality of the musculoskeletal system

Požymis	Kaip dažnai pasireiškia
Progressive spasticity	Visada
Functional motor deficit	Labai dažnai (80–99%)
Involuntary muscle stiffness, contraction, or spasm	Labai dažnai (80–99%)
Frequent falls	Dažnai (30–79%)
Low muscle tone in trunk	Dažnai (30–79%)
Lower limb spasticity	Dažnai (30–79%)
Muscle degeneration	Dažnai (30–79%)
Progressive spastic paraparesis	Dažnai (30–79%)
Spastic diplegia	Dažnai (30–79%)
Spastic paraparesis	Dažnai (30–79%)
Decerebrate rigidity	Kartais (5–29%)
Decorticate rigidity	Kartais (5–29%)
Muscle spasm	Kartais (5–29%)
Muscle stiffness	Kartais (5–29%)
Muscle weakness	Kartais (5–29%)
Opisthotonus	Kartais (5–29%)
Poor head control	Kartais (5–29%)
Scoliosis	Kartais (5–29%)
Neck muscle weakness	Retai (1–4 %)
Low muscle tone	Neužfiksuota
Spasticity and rigidity of muscles	Neužfiksuota

Abnormality of the eye

Požymis	Kaip dažnai pasireiškia
Abnormality of visual evoked potentials	Labai dažnai (80–99%)
Inward turning cross eyed	Dažnai (30–79%)
Visual loss	Dažnai (30–79%)
Blindness	Kartais (5–29%)
Extreme sensitivity of the eyes to light	Kartais (5–29%)
Optic atrophy	Kartais (5–29%)
Slow pupillary light response	Kartais (5–29%)
Visual impairment	Kartais (5–29%)
Abnormal flash visual evoked potentials	Neužfiksuota
Involuntary, rapid, rhythmic eye movements	Neužfiksuota

Laboratory abnormality

Požymis	Kaip dažnai pasireiškia
Reduced tissue galactocerebrosidase activity	Visada
Abnormal circulating enzyme concentration or activity	Labai dažnai (80–99%)
Hyperpyrexia	Labai dažnai (80–99%)
Increased CSF protein concentration	Labai dažnai (80–99%)
Unexplained fevers	Labai dažnai (80–99%)
Temperature instability	Kartais (5–29%)
Episodic fever	Neužfiksuota

Abnormality of limbs

Požymis	Kaip dažnai pasireiškia
Hand clenching	Dažnai (30–79%)
Abnormal rhythmic movements of ankle	Kartais (5–29%)
Decreased arm strength	Kartais (5–29%)
High-arched foot	Kartais (5–29%)
Lower limb muscle weakness	Kartais (5–29%)
Weak shoulder muscles	Kartais (5–29%)

Abnormality of the digestive system

Požymis	Kaip dažnai pasireiškia
Feeding difficulties	Dažnai (30–79%)
Acid reflux	Kartais (5–29%)
Nasogastric tube feeding in infancy	Kartais (5–29%)
Neuromuscular dysphagia	Kartais (5–29%)
Vomiting	Kartais (5–29%)

Abnormality of head or neck

Požymis	Kaip dažnai pasireiškia
Decreased head circumference	Kartais (5–29%)
Increased head circumference	Kartais (5–29%)
Cherry red spot of the macula	Retai (1–4 %)

Abnormality of the respiratory system

Požymis	Kaip dažnai pasireiškia
Breathing difficulties	Kartais (5–29%)
Respiratory failure	Kartais (5–29%)
Softening of voice box tissue	Retai (1–4 %)

Growth abnormality

Požymis	Kaip dažnai pasireiškia
Faltering weight	Dažnai (30–79%)
Wasting syndrome	Kartais (5–29%)
Weight loss	Kartais (5–29%)

Abnormality of the genitourinary system

Požymis	Kaip dažnai pasireiškia
Abnormal erection	Retai (1–4 %)
Loss of bladder control	Retai (1–4 %)

Abnormality of blood and blood-forming tissues

Požymis	Kaip dažnai pasireiškia
Autoimmune thrombocytopenia	Neužfiksuota

Abnormality of the cardiovascular system

Požymis	Kaip dažnai pasireiškia
Abnormal heart rate variability	Kartais (5–29%)

Abnormality of the ear

Požymis	Kaip dažnai pasireiškia
Hearing impairment	Dažnai (30–79%)

Abnormality of the immune system

Požymis	Kaip dažnai pasireiškia
Recurrent infections	Kartais (5–29%)

Abnormality of the integument

Požymis	Kaip dažnai pasireiškia
Patchy loss of skin color	Retai (1–4 %)

Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.

Iš kur tai žinoma

Žmogaus fenotipo ontologija, 2026-09-01 leidimas: su GALC susiję požymiai ir kaip dažnai kiekvienas pasitaiko. Daugiau informacijos rasite adresu hpo.jax.org.

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