Požymiai

Su LRRC7 susiję požymiai

leucine rich repeat containing 7

Žmogaus fenotipo ontologija sieja 154 požymių su LRRC7, pagal kūno sistemas: požymiai, pastebimi žmonėms, sergantiems viena iš šio geno retųjų ligų.

LRRC7

Abnormality of the nervous system

Požymis	Kaip dažnai pasireiškia
Anxiety	Visada
Ataxia	Visada
Attention deficit	Visada
Autism spectrum disorder	Visada
Behavioral abnormality	Visada
Brief seizures with staring spells	Visada
Can't control feelings	Visada
Cerebellar vermis atrophy	Visada
Cerebral palsy	Visada
Chiari type I malformation	Visada
Clumsiness	Visada
Complex febrile seizure	Visada
Decreased reflex response	Visada
Delayed ability to sit	Visada
Delayed fine motor development	Visada
Delayed motor skills	Visada
Depression	Visada
Difficulty articulating speech	Visada
Difficulty falling asleep	Visada
Dysgraphia	Visada
Dystonia	Visada
EEG abnormality	Visada
Febrile seizure (within the age range of 3 months to 6 years)	Visada
Fluid-filled cyst in spinal cord	Visada
Frequent temper tantrums	Visada
Global developmental delay	Visada
Grammar-specific speech disorder	Visada
Hallucinations	Visada
Hallucinations of sound	Visada
Hand tremor	Visada
Headache	Visada
Impulsivity	Visada
Inability to coordinate movements when walking	Visada
Inability to speak	Visada
Inability to walk	Visada
Incoordination	Visada
Increased appetite	Visada
Intellectual disability	Visada
Intellectual disability, mild	Visada
Intellectual disability, severe	Visada
IQ between 34 and 49	Visada
Irritability	Visada
Low frustration tolerance	Visada
Migraine	Visada
Mild global developmental delay	Visada
Moderate global developmental delay	Visada
Moderate receptive language delay	Visada
Pain insensitivity	Visada
Pauses in breathing while sleeping	Visada
Psychosis	Visada
Reading disability	Visada
Reduced impulse control	Visada
Resting tremor	Visada
Restlessness	Visada
Selective mutism	Visada
Self-injurious behavior	Visada
Severe global developmental delay	Visada
Short attention span	Visada
Short corpus callosum	Visada
Slow movements	Visada
Thin corpus callosum	Visada
Typical absence seizure	Visada
Underdevelopment of part of brain called corpus callosum	Visada
Unsteady walk	Visada
Visual hallucinations	Visada
Aggressive behavior	Labai dažnai (80–99%)
Autism	Labai dažnai (80–99%)
Delayed speech and language development	Labai dažnai (80–99%)
Delayed ability to walk	Dažnai (30–79%)
Epilepsy	Dažnai (30–79%)
Difficulty sleeping	Kartais (5–29%)
Interictal epileptiform activity	Kartais (5–29%)

Abnormality of head or neck

Požymis	Kaip dažnai pasireiškia
Abnormal columella morphology	Visada
Big calvaria	Visada
Broad face	Visada
Broad opening between the eyelids	Visada
Epicanthus inversus	Visada
High palate	Visada
Pierre-Robin sequence	Visada
Prominent nasal bridge	Visada
Underdeveloped tissue around nostril	Visada
Wide nasal bridge	Visada
Wide nose	Visada
Abnormally large tongue	Dažnai (30–79%)
Abnormally small head	Dažnai (30–79%)
Cleft palate	Dažnai (30–79%)
Frontal bossing	Dažnai (30–79%)
One sided cleft upper lip	Dažnai (30–79%)
Abnormal facial shape	Kartais (5–29%)
Deep philtrum	Kartais (5–29%)
Eye folds	Kartais (5–29%)
Gap between teeth	Kartais (5–29%)

Abnormality of the musculoskeletal system

Požymis	Kaip dažnai pasireiškia
Appendicular hypotonia	Visada
Basal ganglia calcification	Visada
Cogwheel rigidity	Visada
Double-Jointed	Visada
Generalized decreased muscle tone	Visada
Kyphoscoliosis	Visada
Low muscle tone, in neonatal onset	Visada
Muscle weakness	Visada
Pigeon chest	Visada
Spastic diplegia	Visada
Low muscle tone in trunk	Dažnai (30–79%)
Low muscle tone	Kartais (5–29%)

Abnormality of the eye

Požymis	Kaip dažnai pasireiškia
Cross-eyed	Visada
Involuntary, rapid, rhythmic eye movements	Visada
Drooping of both upper eyelids	Kartais (5–29%)
Farsightedness	Kartais (5–29%)
Hypometric saccades	Kartais (5–29%)
Inward turning cross eyed	Kartais (5–29%)
Outward facing eye ball	Kartais (5–29%)
Wide-set eyes	Kartais (5–29%)

Abnormality of the digestive system

Požymis	Kaip dažnai pasireiškia
Acid reflux	Visada
Functional abnormality of the gastrointestinal tract	Visada
Jaundice	Visada
Feeding difficulties	Labai dažnai (80–99%)
Pyloric stenosis	Dažnai (30–79%)
Chronic constipation	Kartais (5–29%)
Stool holding	Kartais (5–29%)

Abnormality of limbs

Požymis	Kaip dažnai pasireiškia
Knee osteoarthritis	Visada
Short foot	Visada
Small hand	Visada
Dropped arches	Kartais (5–29%)
Pes valgus	Kartais (5–29%)
Tapered finger	Kartais (5–29%)

Growth abnormality

Požymis	Kaip dažnai pasireiškia
Growth delay	Visada
Obesity	Visada
Overweight	Visada
Proportionate short stature	Visada
Faltering weight	Dažnai (30–79%)
Tall stature	Kartais (5–29%)

Abnormality of the immune system

Požymis	Kaip dažnai pasireiškia
Acne	Visada
Asthma	Visada
Eczema	Visada
Food allergy	Visada
Recurrent infections	Kartais (5–29%)

Abnormality of the integument

Požymis	Kaip dažnai pasireiškia
Decreased ability to sweat	Visada
Multiple birthmarks	Visada
Patchy lightened skin	Visada
Skin tags	Visada
Spinal dimple	Visada

Abnormality of the ear

Požymis	Kaip dažnai pasireiškia
Recurrent middle ear infection	Visada
Hearing impairment	Kartais (5–29%)
Large ears	Kartais (5–29%)
Low-set ears	Kartais (5–29%)

Abnormality of the genitourinary system

Požymis	Kaip dažnai pasireiškia
Enuresis	Visada
Hydronephrosis	Dažnai (30–79%)
Urinary urgency	Dažnai (30–79%)
Vesicoureteral reflux	Dažnai (30–79%)

Abnormality of the cardiovascular system

Požymis	Kaip dažnai pasireiškia
Aortic valve has two leaflets rather than three	Visada
Heart murmur	Kartais (5–29%)

Abnormality of prenatal development or birth

Požymis	Kaip dažnai pasireiškia
Low levels of amniotic fluid	Visada

Abnormality of the endocrine system

Požymis	Kaip dažnai pasireiškia
Underactive thyroid	Visada

Constitutional symptom

Požymis	Kaip dažnai pasireiškia
Pain	Visada

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 LRRC7 susiję požymiai ir kaip dažnai kiekvienas pasitaiko. Daugiau informacijos rasite adresu hpo.jax.org.

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