Požymiai

Su ARID2 susiję požymiai

AT-rich interaction domain 2

Žmogaus fenotipo ontologija sieja 163 požymių su ARID2, pagal kūno sistemas: požymiai, pastebimi žmonėms, sergantiems viena iš šio geno retųjų ligų.

ARID2

Abnormality of head or neck

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

Abnormality of the nervous system

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

Abnormality of limbs

Požymis	Kaip dažnai pasireiškia
Club feet	Visada
Curvature of digit	Visada
Curvature of little finger	Visada
Short foot	Visada
Short outermost finger bone	Visada
Short thighbone	Visada
Single transverse palmar crease	Visada
Small hand	Visada
Tapered finger	Visada
Short 5th finger	Dažnai (30–79%)
Short long bone of foot	Dažnai (30–79%)
Shortened long bone of hand	Dažnai (30–79%)
Short fingers or toes	Neužfiksuota

Abnormality of the musculoskeletal system

Požymis	Kaip dažnai pasireiškia
Abnormal formation of the hip	Visada
Severely decreased muscle tone	Visada
Decreased muscle tone in infant	Dažnai (30–79%)
Delayed bone maturation	Dažnai (30–79%)
Double-Jointed	Dažnai (30–79%)
Funnel chest	Dažnai (30–79%)
Low muscle tone	Dažnai (30–79%)
Scoliosis	Dažnai (30–79%)
Diaphragmatic eventration	Kartais (5–29%)
Hernia	Kartais (5–29%)
Kyphoscoliosis	Kartais (5–29%)
Generalized decreased muscle tone	Neužfiksuota

Abnormality of the digestive system

Požymis	Kaip dažnai pasireiškia
Chronic constipation	Visada
Enlarged vein in esophagus	Visada
Inguinal hernia	Visada
Liver inflammation	Visada
Scar tissue replaces healthy tissue in the liver	Visada
Umbilical hernia	Visada
Feeding difficulties	Labai dažnai (80–99%)
Acid reflux	Dažnai (30–79%)
Hepatoblastoma	Retai (1–4 %)
Constipation	Neužfiksuota

Abnormality of the eye

Požymis	Kaip dažnai pasireiškia
Farsightedness	Visada
Outward facing eye ball	Visada
Wide-set eyes	Visada
Cross-eyed	Dažnai (30–79%)
Drooping upper eyelid	Dažnai (30–79%)
Visual impairment	Dažnai (30–79%)
Close sighted	Kartais (5–29%)

Abnormality of the cardiovascular system

Požymis	Kaip dažnai pasireiškia
Increased spleen size	Visada
Abnormality of the heart	Dažnai (30–79%)
An opening in the wall separating the top two chambers of the heart	Kartais (5–29%)
Hole in heart wall separating two lower heart chambers	Kartais (5–29%)
Patent ductus arteriosus	Kartais (5–29%)
Tetralogy of Fallot	Kartais (5–29%)

Abnormality of prenatal development or birth

Požymis	Kaip dažnai pasireiškia
Calcified placenta	Visada
High levels of amniotic fluid	Visada
Induced vaginal delivery	Visada
Premature birth	Visada
Shoulder dystocia	Visada

Abnormality of the genitourinary system

Požymis	Kaip dažnai pasireiškia
Testicular torsion	Visada
Abnormality of the genitourinary system	Dažnai (30–79%)
Undescended testes	Dažnai (30–79%)
Horseshoe kidney	Kartais (5–29%)
Hypospadias	Kartais (5–29%)

Abnormality of the integument

Požymis	Kaip dažnai pasireiškia
Small nail	Visada
Underdeveloped fifth fingernail	Visada
Excessive hair growth	Labai dažnai (80–99%)
Excessive hairiness	Dažnai (30–79%)
Small fifth toenail	Dažnai (30–79%)

Growth abnormality

Požymis	Kaip dažnai pasireiškia
Growth delay as children	Visada
Prenatal growth deficiency	Visada
Short stature	Visada
Small for gestational age	Visada
Growth delay	Dažnai (30–79%)

Abnormality of the ear

Požymis	Kaip dažnai pasireiškia
Ears rotated toward back of head	Labai dažnai (80–99%)
Hearing impairment	Dažnai (30–79%)
Low-set ears	Dažnai (30–79%)
Conductive deafness	Kartais (5–29%)

Abnormality of the immune system

Požymis	Kaip dažnai pasireiškia
Recurrent respiratory infections	Visada
Unusual VZV skin infection	Visada
Aspiration pneumonia	Dažnai (30–79%)
Recurrent infections	Dažnai (30–79%)

Laboratory abnormality

Požymis	Kaip dažnai pasireiškia
Excess fluid in lungs	Visada
High liver enzymes	Visada

Abnormality of the endocrine system

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

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 ARID2 susiję požymiai ir kaip dažnai kiekvienas pasitaiko. Daugiau informacijos rasite adresu hpo.jax.org.

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