Požymiai

Su SPEN susiję požymiai

spen family transcriptional repressor

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

Abnormality of head or neck

Požymis	Kaip dažnai pasireiškia
Horizontal eyebrow	Labai dažnai (80–99%)
Long philtrum	Labai dažnai (80–99%)
Midface retrusion	Labai dažnai (80–99%)
Pointed chin	Labai dažnai (80–99%)
Wide nasal bridge	Labai dažnai (80–99%)
Abnormality of the eyebrow	Dažnai (30–79%)
Abnormally small head	Dažnai (30–79%)
Broad head shape	Dažnai (30–79%)
Delayed cranial suture closure	Dažnai (30–79%)
Depressed nasal bridge	Dažnai (30–79%)
Eye folds	Dažnai (30–79%)
Flat nose	Dažnai (30–79%)
Narrow mouth	Dažnai (30–79%)
Abnormality of the neck	Kartais (5–29%)
Broad opening between the eyelids	Kartais (5–29%)
Bulbous nose	Kartais (5–29%)
Coarse facial features	Kartais (5–29%)
Dental crowding	Kartais (5–29%)
Downward slanting of the opening between the eyelids	Kartais (5–29%)
Drooling	Kartais (5–29%)
Frontal bossing	Kartais (5–29%)
Full lips	Kartais (5–29%)
Fullness around the eyes	Kartais (5–29%)
High frontal hairline	Kartais (5–29%)
High palate	Kartais (5–29%)
High, narrow palate	Kartais (5–29%)
Highly arched eyebrow	Kartais (5–29%)
Little lower jaw	Kartais (5–29%)
Long eyebrows	Kartais (5–29%)
Long eyelashes	Kartais (5–29%)
Long face	Kartais (5–29%)
Low frontal hairline	Kartais (5–29%)
Monobrow	Kartais (5–29%)
Narrow eyelid opening	Kartais (5–29%)
Narrow forehead	Kartais (5–29%)
Nasal tip, upturned	Kartais (5–29%)
Oval face	Kartais (5–29%)
Prominent nasal bridge	Kartais (5–29%)
Prominent nasal tip	Kartais (5–29%)
Receding chin	Kartais (5–29%)
Short philtrum	Kartais (5–29%)
Thick eyebrow	Kartais (5–29%)
Thin red part of the upper lip	Kartais (5–29%)
Upward slanting of the opening between the eyelids	Kartais (5–29%)
Wide mouth	Kartais (5–29%)

Abnormality of the nervous system

Požymis	Kaip dažnai pasireiškia
Global developmental delay	Visada
Intellectual disability	Visada
Abnormal gait	Labai dažnai (80–99%)
Abnormal speech pattern	Labai dažnai (80–99%)
Absent speech development	Labai dažnai (80–99%)
Agenesis of corpus callosum	Labai dažnai (80–99%)
Decrease in size of the outer layer of the brain due to loss of brain cells	Labai dažnai (80–99%)
Delayed speech and language development	Labai dažnai (80–99%)
EEG abnormality	Labai dažnai (80–99%)
Poor speech	Labai dažnai (80–99%)
Ventriculomegaly	Labai dažnai (80–99%)
Abnormality of balance	Dažnai (30–79%)
Aggressive behavior	Dažnai (30–79%)
Autism	Dažnai (30–79%)
Autism spectrum disorder	Dažnai (30–79%)
Behavioral abnormality	Dažnai (30–79%)
Epilepsy	Dažnai (30–79%)
Repetitive movements	Dažnai (30–79%)
Self-injurious behavior	Dažnai (30–79%)
Ataxia	Kartais (5–29%)
Attention deficit	Kartais (5–29%)
Cancer of early nerve cells	Kartais (5–29%)
Cranial nerve paralysis	Kartais (5–29%)
Gray matter heterotopia	Kartais (5–29%)
Impulsivity	Kartais (5–29%)
Increased appetite	Kartais (5–29%)
Motor delay	Kartais (5–29%)
Paralysis or weakness of one side of body	Kartais (5–29%)
Poor eye contact	Kartais (5–29%)
Tremor	Kartais (5–29%)

Abnormality of the cardiovascular system

Požymis	Kaip dažnai pasireiškia
Abnormal cardiovascular system morphology	Dažnai (30–79%)
Abnormal cardiac septum morphology	Kartais (5–29%)
Abnormal heart valve morphology	Kartais (5–29%)
Abnormality of the spleen	Kartais (5–29%)
Aortic arch aneurysm	Kartais (5–29%)
Hole in heart wall separating two lower heart chambers	Kartais (5–29%)
Patent ductus arteriosus	Kartais (5–29%)
Spider veins	Kartais (5–29%)
Strawberry mark	Kartais (5–29%)
Stretched and thinned heart muscle	Kartais (5–29%)
Tetralogy of Fallot	Kartais (5–29%)

Abnormality of the eye

Požymis	Kaip dažnai pasireiškia
Deeply set eye	Labai dažnai (80–99%)
Abnormality of vision	Dažnai (30–79%)
Cross-eyed	Dažnai (30–79%)
Severe farsightedness	Dažnai (30–79%)
Absent pigmentation in the eye	Kartais (5–29%)
Clouding of the lens of the eye	Kartais (5–29%)
Involuntary, rapid, rhythmic eye movements	Kartais (5–29%)
Optic atrophy	Kartais (5–29%)
Visual impairment	Kartais (5–29%)
Wide-set eyes	Kartais (5–29%)

Abnormality of the musculoskeletal system

Požymis	Kaip dažnai pasireiškia
Low muscle tone	Labai dažnai (80–99%)
11 pairs of ribs	Kartais (5–29%)
Abnormal formation of the hip	Kartais (5–29%)
Cleft ribs	Kartais (5–29%)
Hunched back	Kartais (5–29%)
Joint stiffness	Kartais (5–29%)
Muscle tissue disease	Kartais (5–29%)
Narrow spinal canal	Kartais (5–29%)
Rib fusion	Kartais (5–29%)
Scoliosis	Kartais (5–29%)

Abnormality of limbs

Požymis	Kaip dažnai pasireiškia
Permanent flexion of the finger	Labai dažnai (80–99%)
Short fingers or toes	Labai dažnai (80–99%)
Short foot	Labai dažnai (80–99%)
Curvature of little finger	Dažnai (30–79%)
Dropped arches	Kartais (5–29%)
Duplication of bones of the toes	Kartais (5–29%)
High-arched foot	Kartais (5–29%)
Left and right leg differ in length or width	Kartais (5–29%)
Tapered finger	Kartais (5–29%)

Abnormality of the digestive system

Požymis	Kaip dažnai pasireiškia
Acid reflux	Dažnai (30–79%)
Constipation	Dažnai (30–79%)
Feeding difficulties in infancy	Dažnai (30–79%)
Poor swallowing	Dažnai (30–79%)
Abnormality of the anus	Kartais (5–29%)
Abnormality of the intestine	Kartais (5–29%)
Abnormality of the liver	Kartais (5–29%)
Annular pancreas	Kartais (5–29%)
Pyloric stenosis	Kartais (5–29%)

Abnormality of the ear

Požymis	Kaip dažnai pasireiškia
Ears rotated toward back of head	Dažnai (30–79%)
Conductive deafness	Kartais (5–29%)
Hearing impairment	Kartais (5–29%)
Large earlobe	Kartais (5–29%)
Low-set ears	Kartais (5–29%)
Sensorineural hearing impairment	Kartais (5–29%)
Small ears	Kartais (5–29%)

Abnormality of the genitourinary system

Požymis	Kaip dažnai pasireiškia
Abnormal female external genitalia	Kartais (5–29%)
Abnormality of the kidney	Kartais (5–29%)
Cystic kidney disease	Kartais (5–29%)
Hydronephrosis	Kartais (5–29%)
Hypospadias	Kartais (5–29%)
Underdeveloped penis	Kartais (5–29%)
Undescended testes	Kartais (5–29%)

Abnormality of the integument

Požymis	Kaip dažnai pasireiškia
Abnormal blistering of the skin	Kartais (5–29%)
Dry skin	Kartais (5–29%)
Excessive hairiness	Kartais (5–29%)
Excessive hairiness over body	Kartais (5–29%)
Flat, discolored area of skin	Kartais (5–29%)
Small nail	Kartais (5–29%)
Stretch marks	Kartais (5–29%)

Abnormality of the endocrine system

Požymis	Kaip dažnai pasireiškia
Decreased activity of gonads	Kartais (5–29%)
Early onset of puberty	Kartais (5–29%)
Underactive thyroid	Kartais (5–29%)

Growth abnormality

Požymis	Kaip dažnai pasireiškia
Faltering weight	Labai dažnai (80–99%)
Obesity	Kartais (5–29%)
Short stature	Kartais (5–29%)

Abnormality of prenatal development or birth

Požymis	Kaip dažnai pasireiškia
Fetal distress	Kartais (5–29%)

Abnormality of the immune system

Požymis	Kaip dažnai pasireiškia
Abnormality of the immune system	Kartais (5–29%)

Laboratory abnormality

Požymis	Kaip dažnai pasireiškia
Fatty infiltration of liver	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 SPEN susiję požymiai ir kaip dažnai kiekvienas pasitaiko. Daugiau informacijos rasite adresu hpo.jax.org.

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