Trăsături

Trăsături asociate cu LARGE1

LARGE xylosyl- and glucuronyltransferase 1

Human Phenotype Ontology asociază 157 trăsături cu LARGE1, 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
Abnormal periventricular white matter morphology	Întotdeauna
Abnormality of neuronal migration	Întotdeauna
Absent reflexes	Întotdeauna
Absent speech development	Întotdeauna
Agyria	Întotdeauna
Aplasia of the inferior half of the cerebellar vermis	Întotdeauna
Babinski sign	Întotdeauna
Delayed ability to sit	Întotdeauna
Delayed ability to walk	Întotdeauna
Epilepsy	Întotdeauna
Fewer and broader ridges in brain	Întotdeauna
Global developmental delay	Întotdeauna
Hand mirror movements	Întotdeauna
IQ less than 20	Întotdeauna
Overactive lower leg reflex	Întotdeauna
Small brainstem	Întotdeauna
Small cerebellum	Întotdeauna
Type II lissencephaly	Întotdeauna
Abnormal cerebellar vermis morphology	Foarte des (80–99%)
Abnormal cortical gyration	Foarte des (80–99%)
Abnormal gait	Foarte des (80–99%)
Abnormal speech pattern	Foarte des (80–99%)
Cognitive impairment	Foarte des (80–99%)
Decreased reflex response	Foarte des (80–99%)
EEG abnormality	Foarte des (80–99%)
Fewer or absent grooves in brain	Foarte des (80–99%)
Intellectual disability	Foarte des (80–99%)
More grooves in brain	Foarte des (80–99%)
Specific learning disability	Foarte des (80–99%)
Too much cerebrospinal fluid in the brain	Foarte des (80–99%)
Ventriculomegaly	Foarte des (80–99%)
Abnormality of movement	Des (30–79%)
Absent septum pellucidum	Des (30–79%)
Agenesis of corpus callosum	Des (30–79%)
Decrease in size of the outer layer of the brain due to loss of brain cells	Des (30–79%)
Dilated third ventricle	Des (30–79%)
Kinked brainstem	Des (30–79%)
Lateral ventricle dilatation	Des (30–79%)
Motor delay	Des (30–79%)
Poor gross motor coordination	Des (30–79%)
Abnormal pons morphology	Uneori (5–29%)
Abnormality of the nervous system	Uneori (5–29%)
Absent/small cerebellum	Uneori (5–29%)
Cerebellar vermis hypoplasia	Uneori (5–29%)
Diminished deep tendon reflex	Uneori (5–29%)
Holoprosencephaly	Uneori (5–29%)
Intellectual disability, severe	Uneori (5–29%)
Loss of ability to walk	Uneori (5–29%)
Meningocele	Uneori (5–29%)
Paralysis or weakness of one side of body	Uneori (5–29%)
Poor speech	Uneori (5–29%)
Underdevelopment of part of brain called corpus callosum	Uneori (5–29%)
Cerebellar dysplasia	Neînregistrat
Excessive daytime sleepiness	Neînregistrat
Hypoplasia of the pons	Neînregistrat

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Abnormally small eyeball	Întotdeauna
Corneal opacity	Întotdeauna
Decreased light- and dark-adapted electroretinogram amplitude	Întotdeauna
Horizontal nystagmus	Întotdeauna
Retinal dysplasia	Întotdeauna
Breakdown of light-sensitive cells in back of eye	Foarte des (80–99%)
Chorioretinal dysplasia	Foarte des (80–99%)
Close sighted	Foarte des (80–99%)
Cross-eyed	Foarte des (80–99%)
Glaucoma	Foarte des (80–99%)
Optic atrophy	Foarte des (80–99%)
Optic nerve issue	Foarte des (80–99%)
Retinal detachment	Foarte des (80–99%)
Visual impairment	Foarte des (80–99%)
Absence of eyeballs	Des (30–79%)
Clouding of the lens of the eye	Des (30–79%)
Clouding of the lens of the eye at birth	Des (30–79%)
Pigmentary retinopathy	Des (30–79%)
Posterior synechiae of the anterior chamber	Des (30–79%)
Abnormality of the eye	Uneori (5–29%)
Cat eye	Uneori (5–29%)
Cornea of eye less than 10mm in diameter	Uneori (5–29%)
Blindness	Neînregistrat
Enlarged cornea	Neînregistrat
Enlarged eyeball	Neînregistrat
Notched pupil	Neînregistrat
Optic nerve hypoplasia	Neînregistrat
Peters anomaly	Neînregistrat
Retinal atrophy	Neînregistrat

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Generalized decreased muscle tone	Întotdeauna
Increased skeletal muscle cells	Întotdeauna
Low muscle tone	Întotdeauna
Low muscle tone, in neonatal onset	Întotdeauna
Proximal neurogenic muscle weakness	Întotdeauna
Absent/small skeletal muscles	Foarte des (80–99%)
Decreased muscle tone in infant	Foarte des (80–99%)
EMG abnormality	Foarte des (80–99%)
Hypoglycosylation of alpha-dystroglycan	Foarte des (80–99%)
Muscle degeneration	Foarte des (80–99%)
Muscle tissue disease	Foarte des (80–99%)
Muscle weakness	Foarte des (80–99%)
Muscular dystrophy	Foarte des (80–99%)
Reduced muscle fiber alpha dystroglycan	Foarte des (80–99%)
Fatigable weakness of skeletal muscles	Des (30–79%)
Increased endomysial connective tissue	Des (30–79%)
Multiple joint contractures	Des (30–79%)
Spasticity and rigidity of muscles	Des (30–79%)
Abnormality of connective tissue	Uneori (5–29%)
Axial muscle weakness	Uneori (5–29%)
Limited neck movement	Uneori (5–29%)
Neuropathic spinal arthropathy	Uneori (5–29%)
Scoliosis	Uneori (5–29%)
Congenital contracture	Neînregistrat
EMG: myopathic abnormalities	Neînregistrat
Flexed joint that cannot be straightened	Neînregistrat
Severely decreased muscle tone	Neînregistrat

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Dandy-Walker malformation	Întotdeauna
Expressionless face	Întotdeauna
Meningoencephalocele	Întotdeauna
Abnormally small head	Des (30–79%)
Big calvaria	Des (30–79%)
Little lower jaw	Des (30–79%)
Sloping forehead	Des (30–79%)
Abnormality of the tongue muscle	Uneori (5–29%)
Bell's palsy	Uneori (5–29%)
Bifid uvula	Uneori (5–29%)
Cleft palate	Uneori (5–29%)
Submucous cleft hard palate	Uneori (5–29%)
Brain tissue sticks out through back of skull	Neînregistrat
Cleft upper lip	Neînregistrat
Posterior fossa cyst	Neînregistrat

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Elbow flexion contracture	Întotdeauna
Increased size of calf muscles	Întotdeauna
Shortening of the achilles tendon	Întotdeauna
Metatarsus valgus	Foarte des (80–99%)
Limb-girdle muscle weakness	Des (30–79%)
Pes valgus	Des (30–79%)
Hip dislocation	Uneori (5–29%)
Joint contracture of the hand	Neînregistrat

Laboratory abnormality

Trăsătură	Cât de frecvent apare
Elevated blood creatine phosphokinase	Întotdeauna
Abnormal circulating aldolase concentration	Foarte des (80–99%)
Abnormal circulating lactate dehydrogenase concentration	Foarte des (80–99%)
Abnormal levels of creatine kinase in blood	Foarte des (80–99%)
Elevated circulating aspartate aminotransferase concentration	Des (30–79%)
Increased circulating lactate dehydrogenase concentration	Des (30–79%)

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Low-set ears	Des (30–79%)
Ears rotated toward back of head	Uneori (5–29%)
Prominent ear	Uneori (5–29%)
Absent ear canal	Neînregistrat
Small ears	Neînregistrat

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Undescended testes	Întotdeauna
Underdeveloped penis	Des (30–79%)
Short penis	Uneori (5–29%)
Renal dysplasia	Neînregistrat
Small male external genitalia	Neînregistrat

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Feeding difficulties in infancy	Întotdeauna
Feeding difficulties	Des (30–79%)
Absent anus	Neînregistrat

Abnormality of the respiratory system

Trăsătură	Cât de frecvent apare
Respiratory failure	Uneori (5–29%)
Respiratory function loss	Uneori (5–29%)

Abnormality of the voice

Trăsătură	Cât de frecvent apare
Abnormality of the voice	Des (30–79%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Short stature	Neînregistrat

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 LARGE1 și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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