Tratti

Tratti collegati a TRAF7

TNF receptor associated factor 7

La Human Phenotype Ontology collega 143 tratti a TRAF7, per sistema corporeo: caratteristiche osservate in persone con una delle condizioni rare del gene.

Abnormality of the nervous system

Tratto	Frequenza di osservazione
Global developmental delay	Sempre
Intracranial meningioma	Molto spesso (80–99%)
Abnormal brain FDG positron emission tomography	Spesso (30–79%)
Delayed speech and language development	Spesso (30–79%)
Epilepsy	Spesso (30–79%)
Focal T2 hypointense thalamic lesion	Spesso (30–79%)
Headache	Spesso (30–79%)
Intellectual disability	Spesso (30–79%)
Motor delay	Spesso (30–79%)
Seizure affecting one half of brain	Spesso (30–79%)
Tethered cord	Spesso (30–79%)
Abnormal central motor function	A volte (5–29%)
Abnormal central sensory function	A volte (5–29%)
Abnormal gait	A volte (5–29%)
Abnormality of the cerebellum	A volte (5–29%)
Ataxia	A volte (5–29%)
Autism spectrum disorder	A volte (5–29%)
Cognitive impairment	A volte (5–29%)
Cranial nerve paralysis	A volte (5–29%)
Degeneration of cerebrum	A volte (5–29%)
Memory impairment	A volte (5–29%)
Rise in pressure inside skull	A volte (5–29%)
Spinal meningioma	A volte (5–29%)
Too much cerebrospinal fluid in the brain	A volte (5–29%)
Trigeminal neuralgia	A volte (5–29%)
Ventriculomegaly	A volte (5–29%)
Weakness of one side of body	A volte (5–29%)
Abnormal speech pattern	Raramente (1–4%)
Brain stem compression	Raramente (1–4%)
Can't control feelings	Raramente (1–4%)
Excessive daytime sleepiness	Raramente (1–4%)
Spasms on one side of the face	Raramente (1–4%)
Transient global amnesia	Raramente (1–4%)

Abnormality of the endocrine system

Tratto	Frequenza di osservazione
Decreased circulating ACTH concentration	Spesso (30–79%)
Decreased circulating follicle stimulating hormone concentration	Spesso (30–79%)
Decreased circulating luteinizing hormone level	Spesso (30–79%)
Decreased serum estradiol	Spesso (30–79%)
Decreased serum testosterone level	Spesso (30–79%)
Hypogonadotropic hypogonadism	Spesso (30–79%)
Increased circulating prolactin concentration	Spesso (30–79%)
Low blood cortisol level	Spesso (30–79%)
Low thyroid gland function due to abnormal pituitary gland	Spesso (30–79%)
Secondary growth hormone deficiency	Spesso (30–79%)
Abnormal hypothalamus physiology	A volte (5–29%)
Enlarged pituitary gland	A volte (5–29%)
Hypothalamic hypothyroidism	A volte (5–29%)
Neoplasm of the anterior pituitary	A volte (5–29%)
Reduced circulating prolactin concentration	A volte (5–29%)
Neoplasm of the posterior pituitary	Raramente (1–4%)

Abnormality of head or neck

Tratto	Frequenza di osservazione
Bulbous nose	Spesso (30–79%)
Corners of eye widely separated	Spesso (30–79%)
Eye folds	Spesso (30–79%)
Narrow opening between the eyelids	Spesso (30–79%)
Short neck	Spesso (30–79%)
Thickened skin folds of neck	Spesso (30–79%)
Abnormality of the sense of smell	A volte (5–29%)
Abnormally small head	A volte (5–29%)
Bell's palsy	A volte (5–29%)
Big calvaria	A volte (5–29%)
Cystic hygroma	A volte (5–29%)
Deformity of the skull	A volte (5–29%)
Nasal tip, upturned	A volte (5–29%)
Redundant neck skin	A volte (5–29%)
Neoplasm of the tongue	Raramente (1–4%)

Abnormality of the eye

Tratto	Frequenza di osservazione
Bitemporal hemianopia	Spesso (30–79%)
Drooping upper eyelid	Spesso (30–79%)
Wide-set eyes	Spesso (30–79%)
Abnormal kinetic perimetry test	A volte (5–29%)
Cerebral visual impairment	A volte (5–29%)
Cross-eyed	A volte (5–29%)
Eye muscle paralysis	A volte (5–29%)
Oculomotor nerve palsy	A volte (5–29%)
Optic atrophy	A volte (5–29%)
Papilledema	A volte (5–29%)
Slow decrease in sharpness of vision	A volte (5–29%)
Visual acuity test abnormality	A volte (5–29%)
Weak extraocular muscles	A volte (5–29%)
Blindness	Raramente (1–4%)
Bulging eye	Raramente (1–4%)

Abnormality of the cardiovascular system

Tratto	Frequenza di osservazione
Patent ductus arteriosus	Spesso (30–79%)
An opening in the wall separating the top two chambers of the heart	A volte (5–29%)
Aortic valve has two leaflets rather than three	A volte (5–29%)
Double outlet right ventricle	A volte (5–29%)
Hole in heart wall separating two lower heart chambers	A volte (5–29%)
Mitral atresia	A volte (5–29%)
Narrowing of aorta	A volte (5–29%)
Narrowing of aortic valve	A volte (5–29%)
Pulmonary artery atresia	A volte (5–29%)
Supravalvar pulmonary stenosis	A volte (5–29%)
Underdeveloped left heart	A volte (5–29%)
Fainting spell	Raramente (1–4%)

Abnormality of limbs

Tratto	Frequenza di osservazione
Curvature of digit	Spesso (30–79%)
Decreased arm strength	A volte (5–29%)
Dropped arches	A volte (5–29%)
Finger bends toward pinky	A volte (5–29%)
Fluid accumulation in lower limbs	A volte (5–29%)
Gap between 1st and 2nd toes	A volte (5–29%)
Long big toe	A volte (5–29%)
Lower limb muscle weakness	A volte (5–29%)
Overlapping toe	A volte (5–29%)
Radial deviation of finger	A volte (5–29%)
Webbed fingers or toes	A volte (5–29%)

Abnormality of the musculoskeletal system

Tratto	Frequenza di osservazione
Low muscle tone	Spesso (30–79%)
Pigeon chest	Spesso (30–79%)
Delayed bone maturation	A volte (5–29%)
Double-Jointed	A volte (5–29%)
Functional motor deficit	A volte (5–29%)
Joint contracture	A volte (5–29%)
Scoliosis	A volte (5–29%)
Spasticity and rigidity of muscles	A volte (5–29%)
Back pain	Raramente (1–4%)

Abnormality of the digestive system

Tratto	Frequenza di osservazione
Feeding difficulties	Spesso (30–79%)
Nausea and vomiting	Spesso (30–79%)
Inguinal hernia	A volte (5–29%)
Umbilical hernia	A volte (5–29%)
Stomach hernia	Raramente (1–4%)

Abnormality of the ear

Tratto	Frequenza di osservazione
Hearing impairment	Spesso (30–79%)
Low-set ears	A volte (5–29%)
Ear pain	Raramente (1–4%)
Ringing in ears	Raramente (1–4%)

Abnormality of the integument

Tratto	Frequenza di osservazione
Abnormal number of hair whorls	Spesso (30–79%)
Chicken skin	A volte (5–29%)
Neurofibroma	A volte (5–29%)
Skin cancer	Raramente (1–4%)

Growth abnormality

Tratto	Frequenza di osservazione
Decreased body weight	A volte (5–29%)
Obesity	A volte (5–29%)
Prenatal growth deficiency	A volte (5–29%)
Short stature	A volte (5–29%)

Abnormality of the genitourinary system

Tratto	Frequenza di osservazione
Abnormal absence of menstruation	Spesso (30–79%)
Difficulty getting a full erection	Spesso (30–79%)
Loss of bladder control	Raramente (1–4%)

Abnormality of the respiratory system

Tratto	Frequenza di osservazione
Neonatal respiratory distress	Spesso (30–79%)
Abnormality on pulmonary function testing	Raramente (1–4%)
Progressive pulmonary function impairment	Raramente (1–4%)

Abnormal cellular phenotype

Tratto	Frequenza di osservazione
Chromosomal breakage induced by ionizing radiation	Molto spesso (80–99%)
Increased sensitivity to ionizing radiation	Molto spesso (80–99%)

Abnormality of prenatal development or birth

Tratto	Frequenza di osservazione
Only one artery in umbilical cord instead of two	A volte (5–29%)
Premature birth	A volte (5–29%)

Abnormality of the breast

Tratto	Frequenza di osservazione
Wide-spaced nipples	Spesso (30–79%)
Inverted nipples	A volte (5–29%)

Abnormality of blood and blood-forming tissues

Tratto	Frequenza di osservazione
Bleeding in brain	Raramente (1–4%)

Abnormality of the immune system

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

Abnormality of the thoracic cavity

Tratto	Frequenza di osservazione
Abnormal mediastinum morphology	Raramente (1–4%)

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 TRAF7 e la frequenza con cui ciascuno viene osservato. Per saperne di più visiti hpo.jax.org.

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