Požymiai

Su APC2 susiję požymiai

APC regulator of Wnt signaling pathway 2

Žmogaus fenotipo ontologija sieja 134 požymių su APC2, pagal kūno sistemas: požymiai, pastebimi žmonėms, sergantiems viena iš šio geno retųjų ligų.

Abnormality of the nervous system

Požymis	Kaip dažnai pasireiškia
Delayed fine motor development	Visada
Delayed motor skills	Visada
Delayed social development	Visada
Delayed speech and language development	Visada
EEG with polyspike wave complexes	Visada
Epilepsy	Visada
Fewer or absent grooves in brain	Visada
Global developmental delay	Visada
Intellectual disability	Visada
Intellectual disability, severe	Visada
More active than typical	Visada
Poor speech	Visada
Ventriculomegaly	Visada
Generalized-onset seizure	Labai dažnai (80–99%)
Myoclonic seizure	Labai dažnai (80–99%)
Underdevelopment of part of brain called corpus callosum	Labai dažnai (80–99%)
Behavioral abnormality	Dažnai (30–79%)
Brain imaging abnormality	Dažnai (30–79%)
Intellectual disability, mild	Dažnai (30–79%)
Periventricular ribbonlike heterotopia	Dažnai (30–79%)
Aggressive behavior	Kartais (5–29%)
Anxiety	Kartais (5–29%)
Aplasia/Hypoplasia of the corpus callosum	Kartais (5–29%)
Autism spectrum disorder	Kartais (5–29%)
Brief seizures with staring spells	Kartais (5–29%)
Cavum septum pellucidum	Kartais (5–29%)
Cerebellar vermis hypoplasia	Kartais (5–29%)
Degeneration of cerebrum	Kartais (5–29%)
Difficulty making arithmetical calculations	Kartais (5–29%)
Focal impaired awareness seizure	Kartais (5–29%)
Generalized myoclonic seizure	Kartais (5–29%)
Grand mal seizures	Kartais (5–29%)
Hypoplasia of the pons	Kartais (5–29%)
Hypsarrhythmia	Kartais (5–29%)
Incoordination	Kartais (5–29%)
Infantile spasms	Kartais (5–29%)
IQ between 34 and 49	Kartais (5–29%)
Small brainstem	Kartais (5–29%)
Small cerebellum	Kartais (5–29%)
Tremor	Kartais (5–29%)
Astrocytoma	Retai (1–4 %)
Attention deficit	Retai (1–4 %)
Cancer of early nerve cells	Retai (1–4 %)
Thick cerebral cortex	Neužfiksuota

Abnormality of head or neck

Požymis	Kaip dažnai pasireiškia
Big calvaria	Visada
Big lower jaw	Visada
Long face	Visada
Long, narrow head	Visada
Narrow palate	Visada
Prominent nose	Visada
Relatively large head	Visada
Wide nasal bridge	Visada
Coarse facial features	Labai dažnai (80–99%)
Downward slanting of the opening between the eyelids	Dažnai (30–79%)
Increased head circumference	Dažnai (30–79%)
Narrow face	Dažnai (30–79%)
Prominent forehead	Dažnai (30–79%)
Sparse scalp hair at front of head	Dažnai (30–79%)
Tall chin	Dažnai (30–79%)
Abnormal dentition	Kartais (5–29%)
Enlarged cisterna magna	Kartais (5–29%)
Absence of adult teeth	Retai (1–4 %)
Deformity of the skull	Retai (1–4 %)
Delayed eruption of permanent teeth	Retai (1–4 %)
Failure of development of between one and six teeth	Retai (1–4 %)

Abnormality of the genitourinary system

Požymis	Kaip dažnai pasireiškia
Abnormality of the kidney	Kartais (5–29%)
Renal failure	Kartais (5–29%)
Vesicoureteral reflux	Kartais (5–29%)
Absent kidney	Retai (1–4 %)
Congenital posterior urethral valve	Retai (1–4 %)
Decreased fertility	Retai (1–4 %)
Double ureter	Retai (1–4 %)
Hydrocele testis	Retai (1–4 %)
Hydronephrosis	Retai (1–4 %)
Hypospadias	Retai (1–4 %)
Phimosis	Retai (1–4 %)
Sacrococcygeal teratoma	Retai (1–4 %)
Undescended testes	Retai (1–4 %)
Ureteropelvic junction obstruction	Retai (1–4 %)

Abnormality of limbs

Požymis	Kaip dažnai pasireiškia
Short fingers or toes	Visada
Increased arm span	Labai dažnai (80–99%)
Dropped arches	Kartais (5–29%)
Fluid accumulation in lower limbs	Kartais (5–29%)
Large hands	Kartais (5–29%)
Ankle flexion contracture	Retai (1–4 %)
Bilateral camptodactyly	Retai (1–4 %)
Club feet	Retai (1–4 %)
Hip contracture	Retai (1–4 %)
Webbed 2nd and 3rd toes	Retai (1–4 %)

Abnormality of the musculoskeletal system

Požymis	Kaip dažnai pasireiškia
Low muscle tone	Labai dažnai (80–99%)
Advanced bone age	Dažnai (30–79%)
Double-Jointed	Dažnai (30–79%)
Scoliosis	Dažnai (30–79%)
Spasticity and rigidity of muscles	Dažnai (30–79%)
Flexed joint that cannot be straightened	Kartais (5–29%)
Hunched back	Kartais (5–29%)
Spastic tetraplegia	Kartais (5–29%)
Abnormal vertebral morphology	Retai (1–4 %)
Funnel chest	Retai (1–4 %)

Abnormality of the digestive system

Požymis	Kaip dažnai pasireiškia
Constipation	Dažnai (30–79%)
Feeding difficulties	Dažnai (30–79%)
Prolonged yellowing of skin in newborn	Dažnai (30–79%)
Acid reflux	Kartais (5–29%)
Enlarged colon lacking nerve cells	Retai (1–4 %)
Inguinal hernia	Retai (1–4 %)
Umbilical hernia	Retai (1–4 %)

Abnormality of the cardiovascular system

Požymis	Kaip dažnai pasireiškia
Abnormality of the heart	Kartais (5–29%)
An opening in the wall separating the top two chambers of the heart	Kartais (5–29%)
Bulge in wall of large artery that carries blood away from heart	Kartais (5–29%)
Hole in heart wall separating two lower heart chambers	Kartais (5–29%)
Patent ductus arteriosus	Kartais (5–29%)
Strawberry mark	Retai (1–4 %)

Abnormality of the eye

Požymis	Kaip dažnai pasireiškia
Astigmatism	Dažnai (30–79%)
Close sighted	Retai (1–4 %)
Clouding of the lens of the eye	Retai (1–4 %)
Cross-eyed	Retai (1–4 %)
Farsightedness	Retai (1–4 %)
Involuntary, rapid, rhythmic eye movements	Retai (1–4 %)

Abnormality of the ear

Požymis	Kaip dažnai pasireiškia
Chronic infections of the middle ear	Dažnai (30–79%)
Hearing impairment	Dažnai (30–79%)
Cholesteatoma	Retai (1–4 %)
Conductive deafness	Retai (1–4 %)

Abnormality of the integument

Požymis	Kaip dažnai pasireiškia
Flushing	Dažnai (30–79%)
Patchy darkened skin	Retai (1–4 %)
Patchy lightened skin	Retai (1–4 %)
Small nail	Retai (1–4 %)

Abnormality of the respiratory system

Požymis	Kaip dažnai pasireiškia
Pulmonary bleb	Retai (1–4 %)
Small cell lung carcinoma	Retai (1–4 %)

Laboratory abnormality

Požymis	Kaip dažnai pasireiškia
High blood calcium levels	Retai (1–4 %)
Low blood sugar in newborn	Retai (1–4 %)

Abnormal tissue mass

Požymis	Kaip dažnai pasireiškia
Abnormal tissue mass	Retai (1–4 %)

Abnormality of blood and blood-forming tissues

Požymis	Kaip dažnai pasireiškia
Acute lymphoblastic leukemia	Retai (1–4 %)

Abnormality of the endocrine system

Požymis	Kaip dažnai pasireiškia
Underactive thyroid	Retai (1–4 %)

Growth abnormality

Požymis	Kaip dažnai pasireiškia
Tall stature	Labai dažnai (80–99%)

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 APC2 susiję požymiai ir kaip dažnai kiekvienas pasitaiko. Daugiau informacijos rasite adresu hpo.jax.org.

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