Tunnused

Geeniga GALC seotud tunnused

galactosylceramidase

Inimese fenotüübi ontoloogia seostab geeniga GALC 129 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.

GALC

Abnormality of the nervous system

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

Abnormality of the musculoskeletal system

Tunnus	Kui sageli seda täheldatakse
Progressive spasticity	Alati
Functional motor deficit	Väga sageli (80–99%)
Involuntary muscle stiffness, contraction, or spasm	Väga sageli (80–99%)
Frequent falls	Sageli (30–79%)
Low muscle tone in trunk	Sageli (30–79%)
Lower limb spasticity	Sageli (30–79%)
Muscle degeneration	Sageli (30–79%)
Progressive spastic paraparesis	Sageli (30–79%)
Spastic diplegia	Sageli (30–79%)
Spastic paraparesis	Sageli (30–79%)
Decerebrate rigidity	Mõnikord (5–29%)
Decorticate rigidity	Mõnikord (5–29%)
Muscle spasm	Mõnikord (5–29%)
Muscle stiffness	Mõnikord (5–29%)
Muscle weakness	Mõnikord (5–29%)
Opisthotonus	Mõnikord (5–29%)
Poor head control	Mõnikord (5–29%)
Scoliosis	Mõnikord (5–29%)
Neck muscle weakness	Harva (1–4%)
Low muscle tone	Pole registreeritud
Spasticity and rigidity of muscles	Pole registreeritud

Abnormality of the eye

Tunnus	Kui sageli seda täheldatakse
Abnormality of visual evoked potentials	Väga sageli (80–99%)
Inward turning cross eyed	Sageli (30–79%)
Visual loss	Sageli (30–79%)
Blindness	Mõnikord (5–29%)
Extreme sensitivity of the eyes to light	Mõnikord (5–29%)
Optic atrophy	Mõnikord (5–29%)
Slow pupillary light response	Mõnikord (5–29%)
Visual impairment	Mõnikord (5–29%)
Abnormal flash visual evoked potentials	Pole registreeritud
Involuntary, rapid, rhythmic eye movements	Pole registreeritud

Laboratory abnormality

Tunnus	Kui sageli seda täheldatakse
Reduced tissue galactocerebrosidase activity	Alati
Abnormal circulating enzyme concentration or activity	Väga sageli (80–99%)
Hyperpyrexia	Väga sageli (80–99%)
Increased CSF protein concentration	Väga sageli (80–99%)
Unexplained fevers	Väga sageli (80–99%)
Temperature instability	Mõnikord (5–29%)
Episodic fever	Pole registreeritud

Abnormality of limbs

Tunnus	Kui sageli seda täheldatakse
Hand clenching	Sageli (30–79%)
Abnormal rhythmic movements of ankle	Mõnikord (5–29%)
Decreased arm strength	Mõnikord (5–29%)
High-arched foot	Mõnikord (5–29%)
Lower limb muscle weakness	Mõnikord (5–29%)
Weak shoulder muscles	Mõnikord (5–29%)

Abnormality of the digestive system

Tunnus	Kui sageli seda täheldatakse
Feeding difficulties	Sageli (30–79%)
Acid reflux	Mõnikord (5–29%)
Nasogastric tube feeding in infancy	Mõnikord (5–29%)
Neuromuscular dysphagia	Mõnikord (5–29%)
Vomiting	Mõnikord (5–29%)

Abnormality of head or neck

Tunnus	Kui sageli seda täheldatakse
Decreased head circumference	Mõnikord (5–29%)
Increased head circumference	Mõnikord (5–29%)
Cherry red spot of the macula	Harva (1–4%)

Abnormality of the respiratory system

Tunnus	Kui sageli seda täheldatakse
Breathing difficulties	Mõnikord (5–29%)
Respiratory failure	Mõnikord (5–29%)
Softening of voice box tissue	Harva (1–4%)

Growth abnormality

Tunnus	Kui sageli seda täheldatakse
Faltering weight	Sageli (30–79%)
Wasting syndrome	Mõnikord (5–29%)
Weight loss	Mõnikord (5–29%)

Abnormality of the genitourinary system

Tunnus	Kui sageli seda täheldatakse
Abnormal erection	Harva (1–4%)
Loss of bladder control	Harva (1–4%)

Abnormality of blood and blood-forming tissues

Tunnus	Kui sageli seda täheldatakse
Autoimmune thrombocytopenia	Pole registreeritud

Abnormality of the cardiovascular system

Tunnus	Kui sageli seda täheldatakse
Abnormal heart rate variability	Mõnikord (5–29%)

Abnormality of the ear

Tunnus	Kui sageli seda täheldatakse
Hearing impairment	Sageli (30–79%)

Abnormality of the immune system

Tunnus	Kui sageli seda täheldatakse
Recurrent infections	Mõnikord (5–29%)

Abnormality of the integument

Tunnus	Kui sageli seda täheldatakse
Patchy loss of skin color	Harva (1–4%)

Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.

Allikas

Inimese fenotüübi ontoloogia, versioon 2026-09-01: geeniga GALC seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.

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