Tunnused

Geeniga APC2 seotud tunnused

APC regulator of Wnt signaling pathway 2

Inimese fenotüübi ontoloogia seostab geeniga APC2 134 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.

APC2

Abnormality of the nervous system

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

Abnormality of head or neck

Tunnus	Kui sageli seda täheldatakse
Big calvaria	Alati
Big lower jaw	Alati
Long face	Alati
Long, narrow head	Alati
Narrow palate	Alati
Prominent nose	Alati
Relatively large head	Alati
Wide nasal bridge	Alati
Coarse facial features	Väga sageli (80–99%)
Downward slanting of the opening between the eyelids	Sageli (30–79%)
Increased head circumference	Sageli (30–79%)
Narrow face	Sageli (30–79%)
Prominent forehead	Sageli (30–79%)
Sparse scalp hair at front of head	Sageli (30–79%)
Tall chin	Sageli (30–79%)
Abnormal dentition	Mõnikord (5–29%)
Enlarged cisterna magna	Mõnikord (5–29%)
Absence of adult teeth	Harva (1–4%)
Deformity of the skull	Harva (1–4%)
Delayed eruption of permanent teeth	Harva (1–4%)
Failure of development of between one and six teeth	Harva (1–4%)

Abnormality of the genitourinary system

Tunnus	Kui sageli seda täheldatakse
Abnormality of the kidney	Mõnikord (5–29%)
Renal failure	Mõnikord (5–29%)
Vesicoureteral reflux	Mõnikord (5–29%)
Absent kidney	Harva (1–4%)
Congenital posterior urethral valve	Harva (1–4%)
Decreased fertility	Harva (1–4%)
Double ureter	Harva (1–4%)
Hydrocele testis	Harva (1–4%)
Hydronephrosis	Harva (1–4%)
Hypospadias	Harva (1–4%)
Phimosis	Harva (1–4%)
Sacrococcygeal teratoma	Harva (1–4%)
Undescended testes	Harva (1–4%)
Ureteropelvic junction obstruction	Harva (1–4%)

Abnormality of limbs

Tunnus	Kui sageli seda täheldatakse
Short fingers or toes	Alati
Increased arm span	Väga sageli (80–99%)
Dropped arches	Mõnikord (5–29%)
Fluid accumulation in lower limbs	Mõnikord (5–29%)
Large hands	Mõnikord (5–29%)
Ankle flexion contracture	Harva (1–4%)
Bilateral camptodactyly	Harva (1–4%)
Club feet	Harva (1–4%)
Hip contracture	Harva (1–4%)
Webbed 2nd and 3rd toes	Harva (1–4%)

Abnormality of the musculoskeletal system

Tunnus	Kui sageli seda täheldatakse
Low muscle tone	Väga sageli (80–99%)
Advanced bone age	Sageli (30–79%)
Double-Jointed	Sageli (30–79%)
Scoliosis	Sageli (30–79%)
Spasticity and rigidity of muscles	Sageli (30–79%)
Flexed joint that cannot be straightened	Mõnikord (5–29%)
Hunched back	Mõnikord (5–29%)
Spastic tetraplegia	Mõnikord (5–29%)
Abnormal vertebral morphology	Harva (1–4%)
Funnel chest	Harva (1–4%)

Abnormality of the digestive system

Tunnus	Kui sageli seda täheldatakse
Constipation	Sageli (30–79%)
Feeding difficulties	Sageli (30–79%)
Prolonged yellowing of skin in newborn	Sageli (30–79%)
Acid reflux	Mõnikord (5–29%)
Enlarged colon lacking nerve cells	Harva (1–4%)
Inguinal hernia	Harva (1–4%)
Umbilical hernia	Harva (1–4%)

Abnormality of the cardiovascular system

Tunnus	Kui sageli seda täheldatakse
Abnormality of the heart	Mõnikord (5–29%)
An opening in the wall separating the top two chambers of the heart	Mõnikord (5–29%)
Bulge in wall of large artery that carries blood away from heart	Mõnikord (5–29%)
Hole in heart wall separating two lower heart chambers	Mõnikord (5–29%)
Patent ductus arteriosus	Mõnikord (5–29%)
Strawberry mark	Harva (1–4%)

Abnormality of the eye

Tunnus	Kui sageli seda täheldatakse
Astigmatism	Sageli (30–79%)
Close sighted	Harva (1–4%)
Clouding of the lens of the eye	Harva (1–4%)
Cross-eyed	Harva (1–4%)
Farsightedness	Harva (1–4%)
Involuntary, rapid, rhythmic eye movements	Harva (1–4%)

Abnormality of the ear

Tunnus	Kui sageli seda täheldatakse
Chronic infections of the middle ear	Sageli (30–79%)
Hearing impairment	Sageli (30–79%)
Cholesteatoma	Harva (1–4%)
Conductive deafness	Harva (1–4%)

Abnormality of the integument

Tunnus	Kui sageli seda täheldatakse
Flushing	Sageli (30–79%)
Patchy darkened skin	Harva (1–4%)
Patchy lightened skin	Harva (1–4%)
Small nail	Harva (1–4%)

Abnormality of the respiratory system

Tunnus	Kui sageli seda täheldatakse
Pulmonary bleb	Harva (1–4%)
Small cell lung carcinoma	Harva (1–4%)

Laboratory abnormality

Tunnus	Kui sageli seda täheldatakse
High blood calcium levels	Harva (1–4%)
Low blood sugar in newborn	Harva (1–4%)

Abnormal tissue mass

Tunnus	Kui sageli seda täheldatakse
Abnormal tissue mass	Harva (1–4%)

Abnormality of blood and blood-forming tissues

Tunnus	Kui sageli seda täheldatakse
Acute lymphoblastic leukemia	Harva (1–4%)

Abnormality of the endocrine system

Tunnus	Kui sageli seda täheldatakse
Underactive thyroid	Harva (1–4%)

Growth abnormality

Tunnus	Kui sageli seda täheldatakse
Tall stature	Väga sageli (80–99%)

Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.

Allikas

Inimese fenotüübi ontoloogia, versioon 2026-09-01: geeniga APC2 seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.

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