Tunnused

Geeniga LARGE1 seotud tunnused

LARGE xylosyl- and glucuronyltransferase 1

Inimese fenotüübi ontoloogia seostab geeniga LARGE1 157 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.

Abnormality of the nervous system

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

Abnormality of the eye

Tunnus	Kui sageli seda täheldatakse
Abnormally small eyeball	Alati
Corneal opacity	Alati
Decreased light- and dark-adapted electroretinogram amplitude	Alati
Horizontal nystagmus	Alati
Retinal dysplasia	Alati
Breakdown of light-sensitive cells in back of eye	Väga sageli (80–99%)
Chorioretinal dysplasia	Väga sageli (80–99%)
Close sighted	Väga sageli (80–99%)
Cross-eyed	Väga sageli (80–99%)
Glaucoma	Väga sageli (80–99%)
Optic atrophy	Väga sageli (80–99%)
Optic nerve issue	Väga sageli (80–99%)
Retinal detachment	Väga sageli (80–99%)
Visual impairment	Väga sageli (80–99%)
Absence of eyeballs	Sageli (30–79%)
Clouding of the lens of the eye	Sageli (30–79%)
Clouding of the lens of the eye at birth	Sageli (30–79%)
Pigmentary retinopathy	Sageli (30–79%)
Posterior synechiae of the anterior chamber	Sageli (30–79%)
Abnormality of the eye	Mõnikord (5–29%)
Cat eye	Mõnikord (5–29%)
Cornea of eye less than 10mm in diameter	Mõnikord (5–29%)
Blindness	Pole registreeritud
Enlarged cornea	Pole registreeritud
Enlarged eyeball	Pole registreeritud
Notched pupil	Pole registreeritud
Optic nerve hypoplasia	Pole registreeritud
Peters anomaly	Pole registreeritud
Retinal atrophy	Pole registreeritud

Abnormality of the musculoskeletal system

Tunnus	Kui sageli seda täheldatakse
Generalized decreased muscle tone	Alati
Increased skeletal muscle cells	Alati
Low muscle tone	Alati
Low muscle tone, in neonatal onset	Alati
Proximal neurogenic muscle weakness	Alati
Absent/small skeletal muscles	Väga sageli (80–99%)
Decreased muscle tone in infant	Väga sageli (80–99%)
EMG abnormality	Väga sageli (80–99%)
Hypoglycosylation of alpha-dystroglycan	Väga sageli (80–99%)
Muscle degeneration	Väga sageli (80–99%)
Muscle tissue disease	Väga sageli (80–99%)
Muscle weakness	Väga sageli (80–99%)
Muscular dystrophy	Väga sageli (80–99%)
Reduced muscle fiber alpha dystroglycan	Väga sageli (80–99%)
Fatigable weakness of skeletal muscles	Sageli (30–79%)
Increased endomysial connective tissue	Sageli (30–79%)
Multiple joint contractures	Sageli (30–79%)
Spasticity and rigidity of muscles	Sageli (30–79%)
Abnormality of connective tissue	Mõnikord (5–29%)
Axial muscle weakness	Mõnikord (5–29%)
Limited neck movement	Mõnikord (5–29%)
Neuropathic spinal arthropathy	Mõnikord (5–29%)
Scoliosis	Mõnikord (5–29%)
Congenital contracture	Pole registreeritud
EMG: myopathic abnormalities	Pole registreeritud
Flexed joint that cannot be straightened	Pole registreeritud
Severely decreased muscle tone	Pole registreeritud

Abnormality of head or neck

Tunnus	Kui sageli seda täheldatakse
Dandy-Walker malformation	Alati
Expressionless face	Alati
Meningoencephalocele	Alati
Abnormally small head	Sageli (30–79%)
Big calvaria	Sageli (30–79%)
Little lower jaw	Sageli (30–79%)
Sloping forehead	Sageli (30–79%)
Abnormality of the tongue muscle	Mõnikord (5–29%)
Bell's palsy	Mõnikord (5–29%)
Bifid uvula	Mõnikord (5–29%)
Cleft palate	Mõnikord (5–29%)
Submucous cleft hard palate	Mõnikord (5–29%)
Brain tissue sticks out through back of skull	Pole registreeritud
Cleft upper lip	Pole registreeritud
Posterior fossa cyst	Pole registreeritud

Abnormality of limbs

Tunnus	Kui sageli seda täheldatakse
Elbow flexion contracture	Alati
Increased size of calf muscles	Alati
Shortening of the achilles tendon	Alati
Metatarsus valgus	Väga sageli (80–99%)
Limb-girdle muscle weakness	Sageli (30–79%)
Pes valgus	Sageli (30–79%)
Hip dislocation	Mõnikord (5–29%)
Joint contracture of the hand	Pole registreeritud

Laboratory abnormality

Tunnus	Kui sageli seda täheldatakse
Elevated blood creatine phosphokinase	Alati
Abnormal circulating aldolase concentration	Väga sageli (80–99%)
Abnormal circulating lactate dehydrogenase concentration	Väga sageli (80–99%)
Abnormal levels of creatine kinase in blood	Väga sageli (80–99%)
Elevated circulating aspartate aminotransferase concentration	Sageli (30–79%)
Increased circulating lactate dehydrogenase concentration	Sageli (30–79%)

Abnormality of the ear

Tunnus	Kui sageli seda täheldatakse
Low-set ears	Sageli (30–79%)
Ears rotated toward back of head	Mõnikord (5–29%)
Prominent ear	Mõnikord (5–29%)
Absent ear canal	Pole registreeritud
Small ears	Pole registreeritud

Abnormality of the genitourinary system

Tunnus	Kui sageli seda täheldatakse
Undescended testes	Alati
Underdeveloped penis	Sageli (30–79%)
Short penis	Mõnikord (5–29%)
Renal dysplasia	Pole registreeritud
Small male external genitalia	Pole registreeritud

Abnormality of the digestive system

Tunnus	Kui sageli seda täheldatakse
Feeding difficulties in infancy	Alati
Feeding difficulties	Sageli (30–79%)
Absent anus	Pole registreeritud

Abnormality of the respiratory system

Tunnus	Kui sageli seda täheldatakse
Respiratory failure	Mõnikord (5–29%)
Respiratory function loss	Mõnikord (5–29%)

Abnormality of the voice

Tunnus	Kui sageli seda täheldatakse
Abnormality of the voice	Sageli (30–79%)

Growth abnormality

Tunnus	Kui sageli seda täheldatakse
Short stature	Pole registreeritud

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 LARGE1 seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.

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