Požymiai

Su RTL1 susiję požymiai

retrotransposon Gag like 1

Žmogaus fenotipo ontologija sieja 168 požymių su RTL1, pagal kūno sistemas: požymiai, pastebimi žmonėms, sergantiems viena iš šio geno retųjų ligų.

RTL1

Abnormality of head or neck

Požymis	Kaip dažnai pasireiškia
Abnormal facial shape	Labai dažnai (80–99%)
Abnormally large tongue	Dažnai (30–79%)
Chin with horizontal crease	Dažnai (30–79%)
Deep philtrum	Dažnai (30–79%)
Depressed nasal bridge	Dažnai (30–79%)
Hairy forehead	Dažnai (30–79%)
Prominent forehead	Dažnai (30–79%)
Receding chin	Dažnai (30–79%)
Short neck	Dažnai (30–79%)
Short opening between the eyelids	Dažnai (30–79%)
Abnormally small head	Kartais (5–29%)
Asymmetry of the posterior head	Kartais (5–29%)
Bifid uvula	Kartais (5–29%)
Big lower jaw	Kartais (5–29%)
Broad forehead	Kartais (5–29%)
Chin with H-shaped crease	Kartais (5–29%)
Cleft palate	Kartais (5–29%)
Decreased facial expression	Kartais (5–29%)
Decreased size of maxilla	Kartais (5–29%)
Dense bone of skull base	Kartais (5–29%)
Downturned corners of mouth	Kartais (5–29%)
Drooling	Kartais (5–29%)
Exaggerated cupid's bow	Kartais (5–29%)
Extra bones within cranial sutures	Kartais (5–29%)
Eye folds	Kartais (5–29%)
Frontal bossing	Kartais (5–29%)
Full cheeks	Kartais (5–29%)
Full lips	Kartais (5–29%)
High palate	Kartais (5–29%)
Little lower jaw	Kartais (5–29%)
Long philtrum	Kartais (5–29%)
Narrow eyelid opening	Kartais (5–29%)
Narrow forehead	Kartais (5–29%)
Narrow mouth	Kartais (5–29%)
Narrow opening between the eyelids	Kartais (5–29%)
Nasal tip, upturned	Kartais (5–29%)
Open mouth	Kartais (5–29%)
Prominent area between the eyebrows	Kartais (5–29%)
Redundant neck skin	Kartais (5–29%)
Relatively large head	Kartais (5–29%)
Short philtrum	Kartais (5–29%)
Tented mouth	Kartais (5–29%)
Wide nasal bridge	Kartais (5–29%)
Wide nose	Kartais (5–29%)
Wider-than-typical soft spot of skull	Kartais (5–29%)

Abnormality of limbs

Požymis	Kaip dažnai pasireiškia
Short foot	Labai dažnai (80–99%)
Small hand	Labai dažnai (80–99%)
Limb undergrowth	Dažnai (30–79%)
Abnormality of the outermost finger bone	Kartais (5–29%)
Acromicria	Kartais (5–29%)
Bowed shankbone	Kartais (5–29%)
Broad outermost finger bone	Kartais (5–29%)
Coxa valga	Kartais (5–29%)
Curvature of digit	Kartais (5–29%)
Curvature of middle finger	Kartais (5–29%)
Flexion contracture of finger	Kartais (5–29%)
Front half of foot turns inward	Kartais (5–29%)
Interphalangeal joint contracture of finger	Kartais (5–29%)
Inward turned thumb	Kartais (5–29%)
Long toe	Kartais (5–29%)
Metaphyseal spurs	Kartais (5–29%)
Overlapping toe	Kartais (5–29%)
Prominent heel bone	Kartais (5–29%)
Short neck of thighbone	Kartais (5–29%)
Short shinbone	Kartais (5–29%)
Shortened 1st long bone of hand	Kartais (5–29%)
Single transverse palmar crease	Kartais (5–29%)
Small end part of innermost shankbone	Kartais (5–29%)
Thumb contracture	Kartais (5–29%)
Ulnar deviation of the wrist	Kartais (5–29%)
Upper limb undergrowth	Kartais (5–29%)
Wrist flexion contracture	Kartais (5–29%)

Abnormality of the musculoskeletal system

Požymis	Kaip dažnai pasireiškia
Coat hanger sign of ribs	Visada
Double-Jointed	Labai dažnai (80–99%)
Low muscle tone	Labai dažnai (80–99%)
Small chest	Labai dažnai (80–99%)
Abnormality of the skeletal system	Dažnai (30–79%)
Flexed joint that cannot be straightened	Dažnai (30–79%)
Funnel chest	Dažnai (30–79%)
Hypoplastic iliac wing	Dažnai (30–79%)
Kyphoscoliosis	Dažnai (30–79%)
Low muscle tone, in neonatal onset	Dažnai (30–79%)
Abnormality of the costochondral junction	Kartais (5–29%)
Absent glenoid fossa	Kartais (5–29%)
Anterior rib cupping	Kartais (5–29%)
Decreased muscle tone in infant	Kartais (5–29%)
Long collarbone	Kartais (5–29%)
Missing part of vertebrae	Kartais (5–29%)
Narrow chest	Kartais (5–29%)
Permanent flexion of the finger or toe	Kartais (5–29%)
Prominent sternum	Kartais (5–29%)
Scoliosis	Kartais (5–29%)
Short ribs	Kartais (5–29%)
Small shoulder blade	Kartais (5–29%)
Small wings of the pelvic girdle	Kartais (5–29%)
Speckled calcifications in end part of bone	Kartais (5–29%)
Wavy ribs	Kartais (5–29%)

Abnormality of the nervous system

Požymis	Kaip dažnai pasireiškia
Delayed speech and language development	Labai dažnai (80–99%)
Global developmental delay	Labai dažnai (80–99%)
Intellectual disability, mild	Labai dažnai (80–99%)
Motor delay	Labai dažnai (80–99%)
Intellectual disability	Dažnai (30–79%)
Autism spectrum disorder	Kartais (5–29%)
Delayed motor skills	Kartais (5–29%)
Epilepsy	Kartais (5–29%)
Fewer or absent grooves in brain	Kartais (5–29%)
Moderate global developmental delay	Kartais (5–29%)
Poor eye contact	Kartais (5–29%)
Poor fine motor coordination	Kartais (5–29%)
Poor social interactions	Kartais (5–29%)
Severe global developmental delay	Kartais (5–29%)
Spinal dysraphism	Kartais (5–29%)

Abnormality of the digestive system

Požymis	Kaip dažnai pasireiškia
Feeding difficulties	Labai dažnai (80–99%)
Feeding difficulties in infancy	Labai dažnai (80–99%)
Gap between large left and right abdominal muscles	Dažnai (30–79%)
Inguinal hernia	Dažnai (30–79%)
Poor suck	Dažnai (30–79%)
Umbilical hernia	Dažnai (30–79%)
Belly sticks out	Kartais (5–29%)
Enlarged liver	Kartais (5–29%)
Gastrostomy tube feeding in infancy	Kartais (5–29%)
Hepatoblastoma	Kartais (5–29%)
Hernia of the abdominal wall	Kartais (5–29%)
Omphalocele	Kartais (5–29%)
Pyloric stenosis	Kartais (5–29%)

Abnormality of the cardiovascular system

Požymis	Kaip dažnai pasireiškia
Abnormal aortic arch morphology	Kartais (5–29%)
Abnormality of the heart	Kartais (5–29%)
An opening in the wall separating the top two chambers of the heart	Kartais (5–29%)
Avascular peripheral retina	Kartais (5–29%)
Enlarged and thickened heart muscle	Kartais (5–29%)
Enlarged liver and spleen	Kartais (5–29%)
Hole in heart wall separating two lower heart chambers	Kartais (5–29%)
Increased blood pressure in blood vessels of lungs	Kartais (5–29%)
Narrowing of lung artery	Kartais (5–29%)

Growth abnormality

Požymis	Kaip dažnai pasireiškia
Growth delay as children	Labai dažnai (80–99%)
Prenatal growth deficiency	Labai dažnai (80–99%)
Birth weight > 90th percentile	Dažnai (30–79%)
Growth delay	Dažnai (30–79%)
Obesity	Dažnai (30–79%)
Short stature	Dažnai (30–79%)
Small for gestational age	Dažnai (30–79%)
Truncal obesity	Dažnai (30–79%)
General overgrowth	Kartais (5–29%)

Abnormality of the genitourinary system

Požymis	Kaip dažnai pasireiškia
Abnormality of the genitourinary system	Kartais (5–29%)
Hydronephrosis	Kartais (5–29%)
Underdevelopment of external reproductive organs	Kartais (5–29%)
Undescended testes	Kartais (5–29%)

Abnormality of the respiratory system

Požymis	Kaip dažnai pasireiškia
Respiratory failure	Dažnai (30–79%)
Poorly developed lungs	Kartais (5–29%)
Softening of voice box tissue	Kartais (5–29%)
Stiff lung or chest wall causing decreased lung volume	Kartais (5–29%)

Abnormality of prenatal development or birth

Požymis	Kaip dažnai pasireiškia
High levels of amniotic fluid	Labai dažnai (80–99%)
Large placenta	Labai dažnai (80–99%)
Premature birth	Dažnai (30–79%)

Abnormality of the breast

Požymis	Kaip dažnai pasireiškia
Inverted nipples	Kartais (5–29%)
Small nipples	Kartais (5–29%)
Wide-spaced nipples	Kartais (5–29%)

Abnormality of the ear

Požymis	Kaip dažnai pasireiškia
Small ears	Dažnai (30–79%)
Ears rotated toward back of head	Kartais (5–29%)
Recurrent middle ear infection	Kartais (5–29%)

Abnormality of the eye

Požymis	Kaip dažnai pasireiškia
Deeply set eye	Kartais (5–29%)
Inward turning cross eyed	Kartais (5–29%)

Abnormality of the integument

Požymis	Kaip dažnai pasireiškia
Hanging skin	Kartais (5–29%)
Small nail	Kartais (5–29%)

Laboratory abnormality

Požymis	Kaip dažnai pasireiškia
Elevated serum cholesterol	Kartais (5–29%)
Maturity-onset diabetes of the young	Kartais (5–29%)

Abnormality of the endocrine system

Požymis	Kaip dažnai pasireiškia
Early onset of puberty	Labai dažnai (80–99%)

Abnormality of the voice

Požymis	Kaip dažnai pasireiškia
Hoarse cry	Kartais (5–29%)

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 RTL1 susiję požymiai ir kaip dažnai kiekvienas pasitaiko. Daugiau informacijos rasite adresu hpo.jax.org.

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