Özellikler

APC2 ile ilişkili özellikler

APC regulator of Wnt signaling pathway 2

Human Phenotype Ontology, APC2 ile ilişkili 134 özelliği vücut sistemine göre listeliyor: genin nadir hastalıklarından birine sahip kişilerde görülen özellikler.

Abnormality of the nervous system

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

Abnormality of head or neck

Özellik	Ne sıklıkla görüldüğü
Big calvaria	Her zaman
Big lower jaw	Her zaman
Long face	Her zaman
Long, narrow head	Her zaman
Narrow palate	Her zaman
Prominent nose	Her zaman
Relatively large head	Her zaman
Wide nasal bridge	Her zaman
Coarse facial features	Çok sık (%80–99)
Downward slanting of the opening between the eyelids	Sık (%30–79)
Increased head circumference	Sık (%30–79)
Narrow face	Sık (%30–79)
Prominent forehead	Sık (%30–79)
Sparse scalp hair at front of head	Sık (%30–79)
Tall chin	Sık (%30–79)
Abnormal dentition	Bazen (%5–29)
Enlarged cisterna magna	Bazen (%5–29)
Absence of adult teeth	Seyrek (%1–4)
Deformity of the skull	Seyrek (%1–4)
Delayed eruption of permanent teeth	Seyrek (%1–4)
Failure of development of between one and six teeth	Seyrek (%1–4)

Abnormality of the genitourinary system

Özellik	Ne sıklıkla görüldüğü
Abnormality of the kidney	Bazen (%5–29)
Renal failure	Bazen (%5–29)
Vesicoureteral reflux	Bazen (%5–29)
Absent kidney	Seyrek (%1–4)
Congenital posterior urethral valve	Seyrek (%1–4)
Decreased fertility	Seyrek (%1–4)
Double ureter	Seyrek (%1–4)
Hydrocele testis	Seyrek (%1–4)
Hydronephrosis	Seyrek (%1–4)
Hypospadias	Seyrek (%1–4)
Phimosis	Seyrek (%1–4)
Sacrococcygeal teratoma	Seyrek (%1–4)
Undescended testes	Seyrek (%1–4)
Ureteropelvic junction obstruction	Seyrek (%1–4)

Abnormality of limbs

Özellik	Ne sıklıkla görüldüğü
Short fingers or toes	Her zaman
Increased arm span	Çok sık (%80–99)
Dropped arches	Bazen (%5–29)
Fluid accumulation in lower limbs	Bazen (%5–29)
Large hands	Bazen (%5–29)
Ankle flexion contracture	Seyrek (%1–4)
Bilateral camptodactyly	Seyrek (%1–4)
Club feet	Seyrek (%1–4)
Hip contracture	Seyrek (%1–4)
Webbed 2nd and 3rd toes	Seyrek (%1–4)

Abnormality of the musculoskeletal system

Özellik	Ne sıklıkla görüldüğü
Low muscle tone	Çok sık (%80–99)
Advanced bone age	Sık (%30–79)
Double-Jointed	Sık (%30–79)
Scoliosis	Sık (%30–79)
Spasticity and rigidity of muscles	Sık (%30–79)
Flexed joint that cannot be straightened	Bazen (%5–29)
Hunched back	Bazen (%5–29)
Spastic tetraplegia	Bazen (%5–29)
Abnormal vertebral morphology	Seyrek (%1–4)
Funnel chest	Seyrek (%1–4)

Abnormality of the digestive system

Özellik	Ne sıklıkla görüldüğü
Constipation	Sık (%30–79)
Feeding difficulties	Sık (%30–79)
Prolonged yellowing of skin in newborn	Sık (%30–79)
Acid reflux	Bazen (%5–29)
Enlarged colon lacking nerve cells	Seyrek (%1–4)
Inguinal hernia	Seyrek (%1–4)
Umbilical hernia	Seyrek (%1–4)

Abnormality of the cardiovascular system

Özellik	Ne sıklıkla görüldüğü
Abnormality of the heart	Bazen (%5–29)
An opening in the wall separating the top two chambers of the heart	Bazen (%5–29)
Bulge in wall of large artery that carries blood away from heart	Bazen (%5–29)
Hole in heart wall separating two lower heart chambers	Bazen (%5–29)
Patent ductus arteriosus	Bazen (%5–29)
Strawberry mark	Seyrek (%1–4)

Abnormality of the eye

Özellik	Ne sıklıkla görüldüğü
Astigmatism	Sık (%30–79)
Close sighted	Seyrek (%1–4)
Clouding of the lens of the eye	Seyrek (%1–4)
Cross-eyed	Seyrek (%1–4)
Farsightedness	Seyrek (%1–4)
Involuntary, rapid, rhythmic eye movements	Seyrek (%1–4)

Abnormality of the ear

Özellik	Ne sıklıkla görüldüğü
Chronic infections of the middle ear	Sık (%30–79)
Hearing impairment	Sık (%30–79)
Cholesteatoma	Seyrek (%1–4)
Conductive deafness	Seyrek (%1–4)

Abnormality of the integument

Özellik	Ne sıklıkla görüldüğü
Flushing	Sık (%30–79)
Patchy darkened skin	Seyrek (%1–4)
Patchy lightened skin	Seyrek (%1–4)
Small nail	Seyrek (%1–4)

Abnormality of the respiratory system

Özellik	Ne sıklıkla görüldüğü
Pulmonary bleb	Seyrek (%1–4)
Small cell lung carcinoma	Seyrek (%1–4)

Laboratory abnormality

Özellik	Ne sıklıkla görüldüğü
High blood calcium levels	Seyrek (%1–4)
Low blood sugar in newborn	Seyrek (%1–4)

Abnormal tissue mass

Özellik	Ne sıklıkla görüldüğü
Abnormal tissue mass	Seyrek (%1–4)

Abnormality of blood and blood-forming tissues

Özellik	Ne sıklıkla görüldüğü
Acute lymphoblastic leukemia	Seyrek (%1–4)

Abnormality of the endocrine system

Özellik	Ne sıklıkla görüldüğü
Underactive thyroid	Seyrek (%1–4)

Growth abnormality

Özellik	Ne sıklıkla görüldüğü
Tall stature	Çok sık (%80–99)

Bu özelliğin, genin ilişkili olduğu durumlardan birine sahip kişiler arasında ne sıklıkta görüldüğü; Human Phenotype Ontology'nin kaydettiği şekliyle, bunlar arasında en sık görülen oran. Bu sayfalar özellikleri ve bunların arkasındaki araştırmaları anlatır; tanı koymaz. Belirtiler hakkında bir doktora veya genetik danışmana başvurmanız gerekir.

Bilgilerin kaynağı

Human Phenotype Ontology, 2026-09-01 sürümü: APC2 ile ilişkili özellikler ve her birinin ne sıklıkla görüldüğü. Daha fazla bilgi için hpo.jax.org adresini ziyaret edin.

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