Požymiai

Su LARGE1 susiję požymiai

LARGE xylosyl- and glucuronyltransferase 1

Žmogaus fenotipo ontologija sieja 157 požymių su LARGE1, pagal kūno sistemas: požymiai, pastebimi žmonėms, sergantiems viena iš šio geno retųjų ligų.

Abnormality of the nervous system

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

Abnormality of the eye

Požymis	Kaip dažnai pasireiškia
Abnormally small eyeball	Visada
Corneal opacity	Visada
Decreased light- and dark-adapted electroretinogram amplitude	Visada
Horizontal nystagmus	Visada
Retinal dysplasia	Visada
Breakdown of light-sensitive cells in back of eye	Labai dažnai (80–99%)
Chorioretinal dysplasia	Labai dažnai (80–99%)
Close sighted	Labai dažnai (80–99%)
Cross-eyed	Labai dažnai (80–99%)
Glaucoma	Labai dažnai (80–99%)
Optic atrophy	Labai dažnai (80–99%)
Optic nerve issue	Labai dažnai (80–99%)
Retinal detachment	Labai dažnai (80–99%)
Visual impairment	Labai dažnai (80–99%)
Absence of eyeballs	Dažnai (30–79%)
Clouding of the lens of the eye	Dažnai (30–79%)
Clouding of the lens of the eye at birth	Dažnai (30–79%)
Pigmentary retinopathy	Dažnai (30–79%)
Posterior synechiae of the anterior chamber	Dažnai (30–79%)
Abnormality of the eye	Kartais (5–29%)
Cat eye	Kartais (5–29%)
Cornea of eye less than 10mm in diameter	Kartais (5–29%)
Blindness	Neužfiksuota
Enlarged cornea	Neužfiksuota
Enlarged eyeball	Neužfiksuota
Notched pupil	Neužfiksuota
Optic nerve hypoplasia	Neužfiksuota
Peters anomaly	Neužfiksuota
Retinal atrophy	Neužfiksuota

Abnormality of the musculoskeletal system

Požymis	Kaip dažnai pasireiškia
Generalized decreased muscle tone	Visada
Increased skeletal muscle cells	Visada
Low muscle tone	Visada
Low muscle tone, in neonatal onset	Visada
Proximal neurogenic muscle weakness	Visada
Absent/small skeletal muscles	Labai dažnai (80–99%)
Decreased muscle tone in infant	Labai dažnai (80–99%)
EMG abnormality	Labai dažnai (80–99%)
Hypoglycosylation of alpha-dystroglycan	Labai dažnai (80–99%)
Muscle degeneration	Labai dažnai (80–99%)
Muscle tissue disease	Labai dažnai (80–99%)
Muscle weakness	Labai dažnai (80–99%)
Muscular dystrophy	Labai dažnai (80–99%)
Reduced muscle fiber alpha dystroglycan	Labai dažnai (80–99%)
Fatigable weakness of skeletal muscles	Dažnai (30–79%)
Increased endomysial connective tissue	Dažnai (30–79%)
Multiple joint contractures	Dažnai (30–79%)
Spasticity and rigidity of muscles	Dažnai (30–79%)
Abnormality of connective tissue	Kartais (5–29%)
Axial muscle weakness	Kartais (5–29%)
Limited neck movement	Kartais (5–29%)
Neuropathic spinal arthropathy	Kartais (5–29%)
Scoliosis	Kartais (5–29%)
Congenital contracture	Neužfiksuota
EMG: myopathic abnormalities	Neužfiksuota
Flexed joint that cannot be straightened	Neužfiksuota
Severely decreased muscle tone	Neužfiksuota

Abnormality of head or neck

Požymis	Kaip dažnai pasireiškia
Dandy-Walker malformation	Visada
Expressionless face	Visada
Meningoencephalocele	Visada
Abnormally small head	Dažnai (30–79%)
Big calvaria	Dažnai (30–79%)
Little lower jaw	Dažnai (30–79%)
Sloping forehead	Dažnai (30–79%)
Abnormality of the tongue muscle	Kartais (5–29%)
Bell's palsy	Kartais (5–29%)
Bifid uvula	Kartais (5–29%)
Cleft palate	Kartais (5–29%)
Submucous cleft hard palate	Kartais (5–29%)
Brain tissue sticks out through back of skull	Neužfiksuota
Cleft upper lip	Neužfiksuota
Posterior fossa cyst	Neužfiksuota

Abnormality of limbs

Požymis	Kaip dažnai pasireiškia
Elbow flexion contracture	Visada
Increased size of calf muscles	Visada
Shortening of the achilles tendon	Visada
Metatarsus valgus	Labai dažnai (80–99%)
Limb-girdle muscle weakness	Dažnai (30–79%)
Pes valgus	Dažnai (30–79%)
Hip dislocation	Kartais (5–29%)
Joint contracture of the hand	Neužfiksuota

Laboratory abnormality

Požymis	Kaip dažnai pasireiškia
Elevated blood creatine phosphokinase	Visada
Abnormal circulating aldolase concentration	Labai dažnai (80–99%)
Abnormal circulating lactate dehydrogenase concentration	Labai dažnai (80–99%)
Abnormal levels of creatine kinase in blood	Labai dažnai (80–99%)
Elevated circulating aspartate aminotransferase concentration	Dažnai (30–79%)
Increased circulating lactate dehydrogenase concentration	Dažnai (30–79%)

Abnormality of the ear

Požymis	Kaip dažnai pasireiškia
Low-set ears	Dažnai (30–79%)
Ears rotated toward back of head	Kartais (5–29%)
Prominent ear	Kartais (5–29%)
Absent ear canal	Neužfiksuota
Small ears	Neužfiksuota

Abnormality of the genitourinary system

Požymis	Kaip dažnai pasireiškia
Undescended testes	Visada
Underdeveloped penis	Dažnai (30–79%)
Short penis	Kartais (5–29%)
Renal dysplasia	Neužfiksuota
Small male external genitalia	Neužfiksuota

Abnormality of the digestive system

Požymis	Kaip dažnai pasireiškia
Feeding difficulties in infancy	Visada
Feeding difficulties	Dažnai (30–79%)
Absent anus	Neužfiksuota

Abnormality of the respiratory system

Požymis	Kaip dažnai pasireiškia
Respiratory failure	Kartais (5–29%)
Respiratory function loss	Kartais (5–29%)

Abnormality of the voice

Požymis	Kaip dažnai pasireiškia
Abnormality of the voice	Dažnai (30–79%)

Growth abnormality

Požymis	Kaip dažnai pasireiškia
Short stature	Neužfiksuota

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 LARGE1 susiję požymiai ir kaip dažnai kiekvienas pasitaiko. Daugiau informacijos rasite adresu hpo.jax.org.

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