Požymiai

Su ADNP susiję požymiai

activity dependent neuroprotector homeobox

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

Abnormality of head or neck

Požymis	Kaip dažnai pasireiškia
Early eruption of teeth	Labai dažnai (80–99%)
Downward slanting of the opening between the eyelids	Dažnai (30–79%)
Drooping lower lip	Dažnai (30–79%)
Full lower lip	Dažnai (30–79%)
High frontal hairline	Dažnai (30–79%)
Long philtrum	Dažnai (30–79%)
Nasal tip, upturned	Dažnai (30–79%)
Prominent forehead	Dažnai (30–79%)
Short nose	Dažnai (30–79%)
Thin red part of the upper lip	Dažnai (30–79%)
Wide nasal bridge	Dažnai (30–79%)
Widely spaced teeth	Dažnai (30–79%)
Asymmetry of the posterior head	Kartais (5–29%)
Bell's palsy	Kartais (5–29%)
Broad face	Kartais (5–29%)
Broad nasal tip	Kartais (5–29%)
Chewing difficulties	Kartais (5–29%)
Cleft eyelid	Kartais (5–29%)
Coarse facial features	Kartais (5–29%)
Decreased size of tooth	Kartais (5–29%)
Decreased volume of lip	Kartais (5–29%)
Dental cavities	Kartais (5–29%)
Eye folds	Kartais (5–29%)
Failure of development of more than six teeth	Kartais (5–29%)
High, narrow palate	Kartais (5–29%)
Long face	Kartais (5–29%)
Lower eyelid folded out	Kartais (5–29%)
Midface retrusion	Kartais (5–29%)
Narrow eyelid opening	Kartais (5–29%)
Posterior plagiocephaly	Kartais (5–29%)
Recurrent colds	Kartais (5–29%)
Short chin	Kartais (5–29%)
Short opening between the eyelids	Kartais (5–29%)
Slanting of the opening between the eyelids	Kartais (5–29%)
Smooth philtrum	Kartais (5–29%)
Tongue tied	Kartais (5–29%)
Triangular head shape	Kartais (5–29%)
Upward slanting of the opening between the eyelids	Kartais (5–29%)
Wide mouth	Kartais (5–29%)
Abnormally small head	Retai (1–4 %)
Broad head shape	Retai (1–4 %)
Broad opening between the eyelids	Retai (1–4 %)
Depressed nasal bridge	Retai (1–4 %)
Sparse scalp hair	Retai (1–4 %)

Abnormality of the nervous system

Požymis	Kaip dažnai pasireiškia
Intellectual disability	Visada
Abnormal speech pattern	Labai dažnai (80–99%)
Autism spectrum disorder	Labai dažnai (80–99%)
Delayed speech and language development	Labai dažnai (80–99%)
Global developmental delay	Labai dažnai (80–99%)
Poor social interactions	Labai dažnai (80–99%)
Abnormal shape of brain	Dažnai (30–79%)
Abnormal temper tantrums	Dažnai (30–79%)
Anxiety	Dažnai (30–79%)
Attention deficit	Dažnai (30–79%)
Autism	Dažnai (30–79%)
Increased appetite	Dažnai (30–79%)
Moderate global developmental delay	Dažnai (30–79%)
Obsessive compulsive behavior	Dažnai (30–79%)
Severe global developmental delay	Dažnai (30–79%)
Absent speech development	Kartais (5–29%)
Aggressive behavior	Kartais (5–29%)
Degeneration of cerebrum	Kartais (5–29%)
Difficulty sleeping	Kartais (5–29%)
Echoing another person's speech	Kartais (5–29%)
Epilepsy	Kartais (5–29%)
Focal white matter lesions	Kartais (5–29%)
Gliosis	Kartais (5–29%)
Happy demeanor	Kartais (5–29%)
Irritability	Kartais (5–29%)
Lateral ventricle dilatation	Kartais (5–29%)
Loss of developmental milestones	Kartais (5–29%)
Mild global developmental delay	Kartais (5–29%)
Motor delay	Kartais (5–29%)
Poor eye contact	Kartais (5–29%)
Repetitive movements	Kartais (5–29%)
Teeth grinding	Kartais (5–29%)
Tonic seizure	Kartais (5–29%)
Typical absence seizure	Kartais (5–29%)
Underdevelopment of part of brain called corpus callosum	Kartais (5–29%)
Ventriculomegaly	Kartais (5–29%)
More active than typical	Neužfiksuota

Abnormality of limbs

Požymis	Kaip dažnai pasireiškia
Abnormalities of the fingers	Dažnai (30–79%)
Dropped arches	Dažnai (30–79%)
Abnormalities of the toes	Kartais (5–29%)
Broad big toe	Kartais (5–29%)
Curvature of little finger	Kartais (5–29%)
Gap between 1st and 2nd toes	Kartais (5–29%)
Knock knees	Kartais (5–29%)
More than five fingers or toes on hands or feet	Kartais (5–29%)
Prominent fingertip pads	Kartais (5–29%)
Short 4th toe	Kartais (5–29%)
Short lower limbs	Kartais (5–29%)
Single transverse palmar crease	Kartais (5–29%)
Tapered finger	Kartais (5–29%)
Broad thumb	Retai (1–4 %)
Short fingers or toes	Retai (1–4 %)
Webbed 2nd and 3rd toes	Retai (1–4 %)
Small hand	Neužfiksuota

Abnormality of the digestive system

Požymis	Kaip dažnai pasireiškia
Acid reflux	Dažnai (30–79%)
Chronic constipation	Dažnai (30–79%)
Oral-pharyngeal dysphagia	Dažnai (30–79%)
Chronic diarrhea	Kartais (5–29%)
Constipation	Kartais (5–29%)
Episodic vomiting	Kartais (5–29%)
Feeding difficulties	Kartais (5–29%)
Gastrostomy tube feeding in infancy	Kartais (5–29%)
Poor swallowing	Kartais (5–29%)
Vomiting	Kartais (5–29%)
Inguinal hernia	Retai (1–4 %)
Umbilical hernia	Retai (1–4 %)

Abnormality of the eye

Požymis	Kaip dažnai pasireiškia
Astigmatism	Kartais (5–29%)
Cerebral visual impairment	Kartais (5–29%)
Cross-eyed	Kartais (5–29%)
Drooping of both upper eyelids	Kartais (5–29%)
Drooping upper eyelid	Kartais (5–29%)
Farsightedness	Kartais (5–29%)
Wide-set eyes	Kartais (5–29%)
Cat eye	Retai (1–4 %)
Juvenile cataract	Retai (1–4 %)
Lazy eye	Retai (1–4 %)
Outward facing eye ball	Retai (1–4 %)
Visual impairment	Neužfiksuota

Abnormality of the musculoskeletal system

Požymis	Kaip dažnai pasireiškia
Decreased muscle tone in infant	Dažnai (30–79%)
Double-Jointed	Dažnai (30–79%)
Low muscle tone	Dažnai (30–79%)
Funnel chest	Kartais (5–29%)
Poor head control	Kartais (5–29%)
Prominent swayback	Kartais (5–29%)
Scoliosis	Kartais (5–29%)
Generalized low muscle tone in neonate	Retai (1–4 %)
Spasticity and rigidity of muscles	Retai (1–4 %)

Abnormality of the cardiovascular system

Požymis	Kaip dažnai pasireiškia
Abnormal cardiovascular system morphology	Kartais (5–29%)
Abnormality of the heart	Kartais (5–29%)
An opening in the wall separating the top two chambers of the heart	Kartais (5–29%)
Heart murmur	Kartais (5–29%)
Mitral regurgitation	Kartais (5–29%)
Mitral valve prolapse	Kartais (5–29%)

Abnormality of the ear

Požymis	Kaip dažnai pasireiškia
Cupped ear	Kartais (5–29%)
Ears rotated toward back of head	Kartais (5–29%)
Low-set ears	Kartais (5–29%)
Prominent ear	Kartais (5–29%)
Small ears	Kartais (5–29%)

Abnormality of the genitourinary system

Požymis	Kaip dažnai pasireiškia
Loss of bladder control	Labai dažnai (80–99%)
Enlarged kidney	Kartais (5–29%)
Enuresis nocturna	Kartais (5–29%)
Frequent urinary tract infections	Kartais (5–29%)
Undescended testes	Kartais (5–29%)

Growth abnormality

Požymis	Kaip dažnai pasireiškia
Faltering weight	Kartais (5–29%)
Obesity	Kartais (5–29%)
Prenatal growth deficiency	Kartais (5–29%)
Short stature	Kartais (5–29%)
Truncal obesity	Kartais (5–29%)

Abnormality of the integument

Požymis	Kaip dažnai pasireiškia
Abnormality of the nail	Kartais (5–29%)
Thin skin	Kartais (5–29%)
Excessive hairiness	Retai (1–4 %)

Abnormality of prenatal development or birth

Požymis	Kaip dažnai pasireiškia
Meconium stained amniotic fluid	Kartais (5–29%)
Premature rupture of membranes	Kartais (5–29%)

Abnormality of the endocrine system

Požymis	Kaip dažnai pasireiškia
Decreased response to growth hormone stimulation test	Kartais (5–29%)
Pineal cyst	Kartais (5–29%)

Abnormality of the respiratory system

Požymis	Kaip dažnai pasireiškia
Aspiration	Kartais (5–29%)
Breathing difficulties	Retai (1–4 %)

Abnormality of the breast

Požymis	Kaip dažnai pasireiškia
Wide-spaced nipples	Kartais (5–29%)

Abnormality of the immune system

Požymis	Kaip dažnai pasireiškia
Recurrent respiratory infections	Kartais (5–29%)

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

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