Traits

Traits linked to TRAF7

TNF receptor associated factor 7

The Human Phenotype Ontology links 143 traits to TRAF7, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

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

Abnormality of the endocrine system

Trait	Kaip dažnai pasireiškia
Decreased circulating ACTH concentration	Dažnai (30–79%)
Decreased circulating follicle stimulating hormone concentration	Dažnai (30–79%)
Decreased circulating luteinizing hormone level	Dažnai (30–79%)
Decreased serum estradiol	Dažnai (30–79%)
Decreased serum testosterone level	Dažnai (30–79%)
Hypogonadotropic hypogonadism	Dažnai (30–79%)
Increased circulating prolactin concentration	Dažnai (30–79%)
Low blood cortisol level	Dažnai (30–79%)
Low thyroid gland function due to abnormal pituitary gland	Dažnai (30–79%)
Secondary growth hormone deficiency	Dažnai (30–79%)
Abnormal hypothalamus physiology	Kartais (5–29%)
Enlarged pituitary gland	Kartais (5–29%)
Hypothalamic hypothyroidism	Kartais (5–29%)
Neoplasm of the anterior pituitary	Kartais (5–29%)
Reduced circulating prolactin concentration	Kartais (5–29%)
Neoplasm of the posterior pituitary	Retai (1–4 %)

Abnormality of head or neck

Trait	Kaip dažnai pasireiškia
Bulbous nose	Dažnai (30–79%)
Corners of eye widely separated	Dažnai (30–79%)
Eye folds	Dažnai (30–79%)
Narrow opening between the eyelids	Dažnai (30–79%)
Short neck	Dažnai (30–79%)
Thickened skin folds of neck	Dažnai (30–79%)
Abnormality of the sense of smell	Kartais (5–29%)
Abnormally small head	Kartais (5–29%)
Bell's palsy	Kartais (5–29%)
Big calvaria	Kartais (5–29%)
Cystic hygroma	Kartais (5–29%)
Deformity of the skull	Kartais (5–29%)
Nasal tip, upturned	Kartais (5–29%)
Redundant neck skin	Kartais (5–29%)
Neoplasm of the tongue	Retai (1–4 %)

Abnormality of the eye

Trait	Kaip dažnai pasireiškia
Bitemporal hemianopia	Dažnai (30–79%)
Drooping upper eyelid	Dažnai (30–79%)
Wide-set eyes	Dažnai (30–79%)
Abnormal kinetic perimetry test	Kartais (5–29%)
Cerebral visual impairment	Kartais (5–29%)
Cross-eyed	Kartais (5–29%)
Eye muscle paralysis	Kartais (5–29%)
Oculomotor nerve palsy	Kartais (5–29%)
Optic atrophy	Kartais (5–29%)
Papilledema	Kartais (5–29%)
Slow decrease in sharpness of vision	Kartais (5–29%)
Visual acuity test abnormality	Kartais (5–29%)
Weak extraocular muscles	Kartais (5–29%)
Blindness	Retai (1–4 %)
Bulging eye	Retai (1–4 %)

Abnormality of the cardiovascular system

Trait	Kaip dažnai pasireiškia
Patent ductus arteriosus	Dažnai (30–79%)
An opening in the wall separating the top two chambers of the heart	Kartais (5–29%)
Aortic valve has two leaflets rather than three	Kartais (5–29%)
Double outlet right ventricle	Kartais (5–29%)
Hole in heart wall separating two lower heart chambers	Kartais (5–29%)
Mitral atresia	Kartais (5–29%)
Narrowing of aorta	Kartais (5–29%)
Narrowing of aortic valve	Kartais (5–29%)
Pulmonary artery atresia	Kartais (5–29%)
Supravalvar pulmonary stenosis	Kartais (5–29%)
Underdeveloped left heart	Kartais (5–29%)
Fainting spell	Retai (1–4 %)

Abnormality of limbs

Trait	Kaip dažnai pasireiškia
Curvature of digit	Dažnai (30–79%)
Decreased arm strength	Kartais (5–29%)
Dropped arches	Kartais (5–29%)
Finger bends toward pinky	Kartais (5–29%)
Fluid accumulation in lower limbs	Kartais (5–29%)
Gap between 1st and 2nd toes	Kartais (5–29%)
Long big toe	Kartais (5–29%)
Lower limb muscle weakness	Kartais (5–29%)
Overlapping toe	Kartais (5–29%)
Radial deviation of finger	Kartais (5–29%)
Webbed fingers or toes	Kartais (5–29%)

Abnormality of the musculoskeletal system

Trait	Kaip dažnai pasireiškia
Low muscle tone	Dažnai (30–79%)
Pigeon chest	Dažnai (30–79%)
Delayed bone maturation	Kartais (5–29%)
Double-Jointed	Kartais (5–29%)
Functional motor deficit	Kartais (5–29%)
Joint contracture	Kartais (5–29%)
Scoliosis	Kartais (5–29%)
Spasticity and rigidity of muscles	Kartais (5–29%)
Back pain	Retai (1–4 %)

Abnormality of the digestive system

Trait	Kaip dažnai pasireiškia
Feeding difficulties	Dažnai (30–79%)
Nausea and vomiting	Dažnai (30–79%)
Inguinal hernia	Kartais (5–29%)
Umbilical hernia	Kartais (5–29%)
Stomach hernia	Retai (1–4 %)

Abnormality of the ear

Trait	Kaip dažnai pasireiškia
Hearing impairment	Dažnai (30–79%)
Low-set ears	Kartais (5–29%)
Ear pain	Retai (1–4 %)
Ringing in ears	Retai (1–4 %)

Abnormality of the integument

Trait	Kaip dažnai pasireiškia
Abnormal number of hair whorls	Dažnai (30–79%)
Chicken skin	Kartais (5–29%)
Neurofibroma	Kartais (5–29%)
Skin cancer	Retai (1–4 %)

Growth abnormality

Trait	Kaip dažnai pasireiškia
Decreased body weight	Kartais (5–29%)
Obesity	Kartais (5–29%)
Prenatal growth deficiency	Kartais (5–29%)
Short stature	Kartais (5–29%)

Abnormality of the genitourinary system

Trait	Kaip dažnai pasireiškia
Abnormal absence of menstruation	Dažnai (30–79%)
Difficulty getting a full erection	Dažnai (30–79%)
Loss of bladder control	Retai (1–4 %)

Abnormality of the respiratory system

Trait	Kaip dažnai pasireiškia
Neonatal respiratory distress	Dažnai (30–79%)
Abnormality on pulmonary function testing	Retai (1–4 %)
Progressive pulmonary function impairment	Retai (1–4 %)

Abnormal cellular phenotype

Trait	Kaip dažnai pasireiškia
Chromosomal breakage induced by ionizing radiation	Labai dažnai (80–99%)
Increased sensitivity to ionizing radiation	Labai dažnai (80–99%)

Abnormality of prenatal development or birth

Trait	Kaip dažnai pasireiškia
Only one artery in umbilical cord instead of two	Kartais (5–29%)
Premature birth	Kartais (5–29%)

Abnormality of the breast

Trait	Kaip dažnai pasireiškia
Wide-spaced nipples	Dažnai (30–79%)
Inverted nipples	Kartais (5–29%)

Abnormality of blood and blood-forming tissues

Trait	Kaip dažnai pasireiškia
Bleeding in brain	Retai (1–4 %)

Abnormality of the immune system

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

Abnormality of the thoracic cavity

Trait	Kaip dažnai pasireiškia
Abnormal mediastinum morphology	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.

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The Human Phenotype Ontology, release 2026-09-01: the traits linked to TRAF7 and how often each is seen. Find out more at hpo.jax.org.

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