Tunnused

Geeniga ARID2 seotud tunnused

AT-rich interaction domain 2

Inimese fenotüübi ontoloogia seostab geeniga ARID2 163 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.

ARID2

Abnormality of head or neck

Tunnus	Kui sageli seda täheldatakse
Broad nasal tip	Alati
Coarse facial features	Alati
Dandy-Walker malformation	Alati
Deep laugh lines	Alati
Deep philtrum	Alati
Delayed eruption of teeth	Alati
Dental crowding	Alati
Downward slanting of the opening between the eyelids	Alati
Exaggerated cupid's bow	Alati
Facial shape deformation	Alati
Frontal bossing	Alati
Full cheeks	Alati
Full lower lip	Alati
Full upper lip	Alati
Fullness around the eyes	Alati
Gum enlargement	Alati
High forehead	Alati
High frontal hairline	Alati
Large face	Alati
Little lower jaw	Alati
Long philtrum	Alati
Midface retrusion	Alati
Narrow eyelid opening	Alati
Prominent forehead	Alati
Receding chin	Alati
Thick nasal alae	Alati
Thin red part of the upper lip	Alati
Wide mouth	Alati
Wide nose	Alati
Prominent eyelashes	Väga sageli (80–99%)
Thick eyebrow	Väga sageli (80–99%)
Abnormal facial shape	Sageli (30–79%)
Asymmetry of the posterior head	Sageli (30–79%)
Broad philtrum	Sageli (30–79%)
Depressed nasal bridge	Sageli (30–79%)
Extra bones within cranial sutures	Sageli (30–79%)
Eye folds	Sageli (30–79%)
Low frontal hairline	Sageli (30–79%)
Monobrow	Sageli (30–79%)
Nasal tip, upturned	Sageli (30–79%)
Recurrent colds	Sageli (30–79%)
Short nose	Sageli (30–79%)
Short philtrum	Sageli (30–79%)
Sparse scalp hair	Sageli (30–79%)
Wide nasal base	Sageli (30–79%)
Cleft palate	Mõnikord (5–29%)
Abnormally small head	Harva (1–4%)
High, narrow palate	Pole registreeritud
Large forehead	Pole registreeritud

Abnormality of the nervous system

Tunnus	Kui sageli seda täheldatakse
Abnormal periventricular white matter morphology	Alati
Absent speech development	Alati
Bilateral tonic-clonic seizure with generalized onset	Alati
Delayed ability to sit	Alati
Delayed ability to walk	Alati
Delayed fine motor development	Alati
Delayed speech and language development	Alati
Extra-axial cerebrospinal fluid accumulation	Alati
Fluid-filled sac located in membrane surrounding brain or spinal cord	Alati
Global developmental delay	Alati
Infantile spasms	Alati
More active than typical	Alati
Neurodevelopmental delay	Alati
Rise in pressure inside skull	Alati
Short attention span	Alati
Thin corpus callosum	Alati
Tonic seizure	Alati
Typical absence seizure	Alati
Intellectual disability	Väga sageli (80–99%)
Attention deficit	Sageli (30–79%)
Behavioral abnormality	Sageli (30–79%)
Epilepsy	Sageli (30–79%)
Intellectual disability, severe	Sageli (30–79%)
IQ between 34 and 49	Sageli (30–79%)
Periventricular leukomalacia	Sageli (30–79%)
Agenesis of corpus callosum	Mõnikord (5–29%)
Aggressive behavior	Mõnikord (5–29%)
Anxiety	Mõnikord (5–29%)
Auditory hypersensitivity	Mõnikord (5–29%)
Autism spectrum disorder	Mõnikord (5–29%)
Oral aversion	Mõnikord (5–29%)
Simplified gyral pattern	Mõnikord (5–29%)
Tic disorder	Mõnikord (5–29%)
Motor delay	Pole registreeritud
Repetitive movements	Pole registreeritud

Abnormality of limbs

Tunnus	Kui sageli seda täheldatakse
Club feet	Alati
Curvature of digit	Alati
Curvature of little finger	Alati
Short foot	Alati
Short outermost finger bone	Alati
Short thighbone	Alati
Single transverse palmar crease	Alati
Small hand	Alati
Tapered finger	Alati
Short 5th finger	Sageli (30–79%)
Short long bone of foot	Sageli (30–79%)
Shortened long bone of hand	Sageli (30–79%)
Short fingers or toes	Pole registreeritud

Abnormality of the musculoskeletal system

Tunnus	Kui sageli seda täheldatakse
Abnormal formation of the hip	Alati
Severely decreased muscle tone	Alati
Decreased muscle tone in infant	Sageli (30–79%)
Delayed bone maturation	Sageli (30–79%)
Double-Jointed	Sageli (30–79%)
Funnel chest	Sageli (30–79%)
Low muscle tone	Sageli (30–79%)
Scoliosis	Sageli (30–79%)
Diaphragmatic eventration	Mõnikord (5–29%)
Hernia	Mõnikord (5–29%)
Kyphoscoliosis	Mõnikord (5–29%)
Generalized decreased muscle tone	Pole registreeritud

Abnormality of the digestive system

Tunnus	Kui sageli seda täheldatakse
Chronic constipation	Alati
Enlarged vein in esophagus	Alati
Inguinal hernia	Alati
Liver inflammation	Alati
Scar tissue replaces healthy tissue in the liver	Alati
Umbilical hernia	Alati
Feeding difficulties	Väga sageli (80–99%)
Acid reflux	Sageli (30–79%)
Hepatoblastoma	Harva (1–4%)
Constipation	Pole registreeritud

Abnormality of the eye

Tunnus	Kui sageli seda täheldatakse
Farsightedness	Alati
Outward facing eye ball	Alati
Wide-set eyes	Alati
Cross-eyed	Sageli (30–79%)
Drooping upper eyelid	Sageli (30–79%)
Visual impairment	Sageli (30–79%)
Close sighted	Mõnikord (5–29%)

Abnormality of the cardiovascular system

Tunnus	Kui sageli seda täheldatakse
Increased spleen size	Alati
Abnormality of the heart	Sageli (30–79%)
An opening in the wall separating the top two chambers of the heart	Mõnikord (5–29%)
Hole in heart wall separating two lower heart chambers	Mõnikord (5–29%)
Patent ductus arteriosus	Mõnikord (5–29%)
Tetralogy of Fallot	Mõnikord (5–29%)

Abnormality of prenatal development or birth

Tunnus	Kui sageli seda täheldatakse
Calcified placenta	Alati
High levels of amniotic fluid	Alati
Induced vaginal delivery	Alati
Premature birth	Alati
Shoulder dystocia	Alati

Abnormality of the genitourinary system

Tunnus	Kui sageli seda täheldatakse
Testicular torsion	Alati
Abnormality of the genitourinary system	Sageli (30–79%)
Undescended testes	Sageli (30–79%)
Horseshoe kidney	Mõnikord (5–29%)
Hypospadias	Mõnikord (5–29%)

Abnormality of the integument

Tunnus	Kui sageli seda täheldatakse
Small nail	Alati
Underdeveloped fifth fingernail	Alati
Excessive hair growth	Väga sageli (80–99%)
Excessive hairiness	Sageli (30–79%)
Small fifth toenail	Sageli (30–79%)

Growth abnormality

Tunnus	Kui sageli seda täheldatakse
Growth delay as children	Alati
Prenatal growth deficiency	Alati
Short stature	Alati
Small for gestational age	Alati
Growth delay	Sageli (30–79%)

Abnormality of the ear

Tunnus	Kui sageli seda täheldatakse
Ears rotated toward back of head	Väga sageli (80–99%)
Hearing impairment	Sageli (30–79%)
Low-set ears	Sageli (30–79%)
Conductive deafness	Mõnikord (5–29%)

Abnormality of the immune system

Tunnus	Kui sageli seda täheldatakse
Recurrent respiratory infections	Alati
Unusual VZV skin infection	Alati
Aspiration pneumonia	Sageli (30–79%)
Recurrent infections	Sageli (30–79%)

Laboratory abnormality

Tunnus	Kui sageli seda täheldatakse
Excess fluid in lungs	Alati
High liver enzymes	Alati

Abnormality of the endocrine system

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

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 ARID2 seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.

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