Trăsături

Trăsături asociate cu APC2

APC regulator of Wnt signaling pathway 2

Human Phenotype Ontology asociază 134 trăsături cu APC2, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

Abnormality of the nervous system

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

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Big calvaria	Întotdeauna
Big lower jaw	Întotdeauna
Long face	Întotdeauna
Long, narrow head	Întotdeauna
Narrow palate	Întotdeauna
Prominent nose	Întotdeauna
Relatively large head	Întotdeauna
Wide nasal bridge	Întotdeauna
Coarse facial features	Foarte des (80–99%)
Downward slanting of the opening between the eyelids	Des (30–79%)
Increased head circumference	Des (30–79%)
Narrow face	Des (30–79%)
Prominent forehead	Des (30–79%)
Sparse scalp hair at front of head	Des (30–79%)
Tall chin	Des (30–79%)
Abnormal dentition	Uneori (5–29%)
Enlarged cisterna magna	Uneori (5–29%)
Absence of adult teeth	Rar (1–4%)
Deformity of the skull	Rar (1–4%)
Delayed eruption of permanent teeth	Rar (1–4%)
Failure of development of between one and six teeth	Rar (1–4%)

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Abnormality of the kidney	Uneori (5–29%)
Renal failure	Uneori (5–29%)
Vesicoureteral reflux	Uneori (5–29%)
Absent kidney	Rar (1–4%)
Congenital posterior urethral valve	Rar (1–4%)
Decreased fertility	Rar (1–4%)
Double ureter	Rar (1–4%)
Hydrocele testis	Rar (1–4%)
Hydronephrosis	Rar (1–4%)
Hypospadias	Rar (1–4%)
Phimosis	Rar (1–4%)
Sacrococcygeal teratoma	Rar (1–4%)
Undescended testes	Rar (1–4%)
Ureteropelvic junction obstruction	Rar (1–4%)

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Short fingers or toes	Întotdeauna
Increased arm span	Foarte des (80–99%)
Dropped arches	Uneori (5–29%)
Fluid accumulation in lower limbs	Uneori (5–29%)
Large hands	Uneori (5–29%)
Ankle flexion contracture	Rar (1–4%)
Bilateral camptodactyly	Rar (1–4%)
Club feet	Rar (1–4%)
Hip contracture	Rar (1–4%)
Webbed 2nd and 3rd toes	Rar (1–4%)

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Low muscle tone	Foarte des (80–99%)
Advanced bone age	Des (30–79%)
Double-Jointed	Des (30–79%)
Scoliosis	Des (30–79%)
Spasticity and rigidity of muscles	Des (30–79%)
Flexed joint that cannot be straightened	Uneori (5–29%)
Hunched back	Uneori (5–29%)
Spastic tetraplegia	Uneori (5–29%)
Abnormal vertebral morphology	Rar (1–4%)
Funnel chest	Rar (1–4%)

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Constipation	Des (30–79%)
Feeding difficulties	Des (30–79%)
Prolonged yellowing of skin in newborn	Des (30–79%)
Acid reflux	Uneori (5–29%)
Enlarged colon lacking nerve cells	Rar (1–4%)
Inguinal hernia	Rar (1–4%)
Umbilical hernia	Rar (1–4%)

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Abnormality of the heart	Uneori (5–29%)
An opening in the wall separating the top two chambers of the heart	Uneori (5–29%)
Bulge in wall of large artery that carries blood away from heart	Uneori (5–29%)
Hole in heart wall separating two lower heart chambers	Uneori (5–29%)
Patent ductus arteriosus	Uneori (5–29%)
Strawberry mark	Rar (1–4%)

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Astigmatism	Des (30–79%)
Close sighted	Rar (1–4%)
Clouding of the lens of the eye	Rar (1–4%)
Cross-eyed	Rar (1–4%)
Farsightedness	Rar (1–4%)
Involuntary, rapid, rhythmic eye movements	Rar (1–4%)

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Chronic infections of the middle ear	Des (30–79%)
Hearing impairment	Des (30–79%)
Cholesteatoma	Rar (1–4%)
Conductive deafness	Rar (1–4%)

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Flushing	Des (30–79%)
Patchy darkened skin	Rar (1–4%)
Patchy lightened skin	Rar (1–4%)
Small nail	Rar (1–4%)

Abnormality of the respiratory system

Trăsătură	Cât de frecvent apare
Pulmonary bleb	Rar (1–4%)
Small cell lung carcinoma	Rar (1–4%)

Laboratory abnormality

Trăsătură	Cât de frecvent apare
High blood calcium levels	Rar (1–4%)
Low blood sugar in newborn	Rar (1–4%)

Abnormal tissue mass

Trăsătură	Cât de frecvent apare
Abnormal tissue mass	Rar (1–4%)

Abnormality of blood and blood-forming tissues

Trăsătură	Cât de frecvent apare
Acute lymphoblastic leukemia	Rar (1–4%)

Abnormality of the endocrine system

Trăsătură	Cât de frecvent apare
Underactive thyroid	Rar (1–4%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Tall stature	Foarte des (80–99%)

Cât de frecvent apare în rândul persoanelor cu una dintre afecțiunile asociate genei, cel mai des întâlnit dintre acestea, conform Human Phenotype Ontology. Aceste pagini descriu trăsături și cercetările din spatele lor; ele nu reprezintă un diagnostic, iar pentru simptome trebuie să vă adresați medicului sau consilierului genetic.

De unde provin aceste informații

Human Phenotype Ontology, versiunea 2026-09-01: trăsăturile asociate cu APC2 și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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