Tratti

Tratti collegati a ADNP

activity dependent neuroprotector homeobox

La Human Phenotype Ontology collega 163 tratti a ADNP, per sistema corporeo: caratteristiche osservate in persone con una delle condizioni rare del gene.

ADNP

Abnormality of head or neck

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

Abnormality of the nervous system

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

Abnormality of limbs

Tratto	Frequenza di osservazione
Abnormalities of the fingers	Spesso (30–79%)
Dropped arches	Spesso (30–79%)
Abnormalities of the toes	A volte (5–29%)
Broad big toe	A volte (5–29%)
Curvature of little finger	A volte (5–29%)
Gap between 1st and 2nd toes	A volte (5–29%)
Knock knees	A volte (5–29%)
More than five fingers or toes on hands or feet	A volte (5–29%)
Prominent fingertip pads	A volte (5–29%)
Short 4th toe	A volte (5–29%)
Short lower limbs	A volte (5–29%)
Single transverse palmar crease	A volte (5–29%)
Tapered finger	A volte (5–29%)
Broad thumb	Raramente (1–4%)
Short fingers or toes	Raramente (1–4%)
Webbed 2nd and 3rd toes	Raramente (1–4%)
Small hand	Non registrato

Abnormality of the digestive system

Tratto	Frequenza di osservazione
Acid reflux	Spesso (30–79%)
Chronic constipation	Spesso (30–79%)
Oral-pharyngeal dysphagia	Spesso (30–79%)
Chronic diarrhea	A volte (5–29%)
Constipation	A volte (5–29%)
Episodic vomiting	A volte (5–29%)
Feeding difficulties	A volte (5–29%)
Gastrostomy tube feeding in infancy	A volte (5–29%)
Poor swallowing	A volte (5–29%)
Vomiting	A volte (5–29%)
Inguinal hernia	Raramente (1–4%)
Umbilical hernia	Raramente (1–4%)

Abnormality of the eye

Tratto	Frequenza di osservazione
Astigmatism	A volte (5–29%)
Cerebral visual impairment	A volte (5–29%)
Cross-eyed	A volte (5–29%)
Drooping of both upper eyelids	A volte (5–29%)
Drooping upper eyelid	A volte (5–29%)
Farsightedness	A volte (5–29%)
Wide-set eyes	A volte (5–29%)
Cat eye	Raramente (1–4%)
Juvenile cataract	Raramente (1–4%)
Lazy eye	Raramente (1–4%)
Outward facing eye ball	Raramente (1–4%)
Visual impairment	Non registrato

Abnormality of the musculoskeletal system

Tratto	Frequenza di osservazione
Decreased muscle tone in infant	Spesso (30–79%)
Double-Jointed	Spesso (30–79%)
Low muscle tone	Spesso (30–79%)
Funnel chest	A volte (5–29%)
Poor head control	A volte (5–29%)
Prominent swayback	A volte (5–29%)
Scoliosis	A volte (5–29%)
Generalized low muscle tone in neonate	Raramente (1–4%)
Spasticity and rigidity of muscles	Raramente (1–4%)

Abnormality of the cardiovascular system

Tratto	Frequenza di osservazione
Abnormal cardiovascular system morphology	A volte (5–29%)
Abnormality of the heart	A volte (5–29%)
An opening in the wall separating the top two chambers of the heart	A volte (5–29%)
Heart murmur	A volte (5–29%)
Mitral regurgitation	A volte (5–29%)
Mitral valve prolapse	A volte (5–29%)

Abnormality of the ear

Tratto	Frequenza di osservazione
Cupped ear	A volte (5–29%)
Ears rotated toward back of head	A volte (5–29%)
Low-set ears	A volte (5–29%)
Prominent ear	A volte (5–29%)
Small ears	A volte (5–29%)

Abnormality of the genitourinary system

Tratto	Frequenza di osservazione
Loss of bladder control	Molto spesso (80–99%)
Enlarged kidney	A volte (5–29%)
Enuresis nocturna	A volte (5–29%)
Frequent urinary tract infections	A volte (5–29%)
Undescended testes	A volte (5–29%)

Growth abnormality

Tratto	Frequenza di osservazione
Faltering weight	A volte (5–29%)
Obesity	A volte (5–29%)
Prenatal growth deficiency	A volte (5–29%)
Short stature	A volte (5–29%)
Truncal obesity	A volte (5–29%)

Abnormality of the integument

Tratto	Frequenza di osservazione
Abnormality of the nail	A volte (5–29%)
Thin skin	A volte (5–29%)
Excessive hairiness	Raramente (1–4%)

Abnormality of prenatal development or birth

Tratto	Frequenza di osservazione
Meconium stained amniotic fluid	A volte (5–29%)
Premature rupture of membranes	A volte (5–29%)

Abnormality of the endocrine system

Tratto	Frequenza di osservazione
Decreased response to growth hormone stimulation test	A volte (5–29%)
Pineal cyst	A volte (5–29%)

Abnormality of the respiratory system

Tratto	Frequenza di osservazione
Aspiration	A volte (5–29%)
Breathing difficulties	Raramente (1–4%)

Abnormality of the breast

Tratto	Frequenza di osservazione
Wide-spaced nipples	A volte (5–29%)

Abnormality of the immune system

Tratto	Frequenza di osservazione
Recurrent respiratory infections	A volte (5–29%)

Con quale frequenza questo tratto si presenta tra le persone con una delle condizioni legate al gene, nella misura più alta riscontrata tra queste, secondo quanto registrato dall'Human Phenotype Ontology. Queste pagine descrivono tratti e la ricerca che li riguarda; non costituiscono una diagnosi, e per i sintomi il medico o il consulente genetico è la persona a cui rivolgersi.

Fonte dei dati

Human Phenotype Ontology, versione 2026-09-01: i tratti collegati a ADNP e la frequenza con cui ciascuno viene osservato. Per saperne di più visiti hpo.jax.org.

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