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

Abnormality of the endocrine system

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

Abnormality of head or neck

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

Abnormality of the eye

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

Abnormality of the cardiovascular system

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

Abnormality of limbs

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

Abnormality of the musculoskeletal system

Trait	Kuinka usein sitä esiintyy
Low muscle tone	Usein (30–79%)
Pigeon chest	Usein (30–79%)
Delayed bone maturation	Joskus (5–29%)
Double-Jointed	Joskus (5–29%)
Functional motor deficit	Joskus (5–29%)
Joint contracture	Joskus (5–29%)
Scoliosis	Joskus (5–29%)
Spasticity and rigidity of muscles	Joskus (5–29%)
Back pain	Harvinainen (1–4 %)

Abnormality of the digestive system

Trait	Kuinka usein sitä esiintyy
Feeding difficulties	Usein (30–79%)
Nausea and vomiting	Usein (30–79%)
Inguinal hernia	Joskus (5–29%)
Umbilical hernia	Joskus (5–29%)
Stomach hernia	Harvinainen (1–4 %)

Abnormality of the ear

Trait	Kuinka usein sitä esiintyy
Hearing impairment	Usein (30–79%)
Low-set ears	Joskus (5–29%)
Ear pain	Harvinainen (1–4 %)
Ringing in ears	Harvinainen (1–4 %)

Abnormality of the integument

Trait	Kuinka usein sitä esiintyy
Abnormal number of hair whorls	Usein (30–79%)
Chicken skin	Joskus (5–29%)
Neurofibroma	Joskus (5–29%)
Skin cancer	Harvinainen (1–4 %)

Growth abnormality

Trait	Kuinka usein sitä esiintyy
Decreased body weight	Joskus (5–29%)
Obesity	Joskus (5–29%)
Prenatal growth deficiency	Joskus (5–29%)
Short stature	Joskus (5–29%)

Abnormality of the genitourinary system

Trait	Kuinka usein sitä esiintyy
Abnormal absence of menstruation	Usein (30–79%)
Difficulty getting a full erection	Usein (30–79%)
Loss of bladder control	Harvinainen (1–4 %)

Abnormality of the respiratory system

Trait	Kuinka usein sitä esiintyy
Neonatal respiratory distress	Usein (30–79%)
Abnormality on pulmonary function testing	Harvinainen (1–4 %)
Progressive pulmonary function impairment	Harvinainen (1–4 %)

Abnormal cellular phenotype

Trait	Kuinka usein sitä esiintyy
Chromosomal breakage induced by ionizing radiation	Hyvin usein (80–99%)
Increased sensitivity to ionizing radiation	Hyvin usein (80–99%)

Abnormality of prenatal development or birth

Trait	Kuinka usein sitä esiintyy
Only one artery in umbilical cord instead of two	Joskus (5–29%)
Premature birth	Joskus (5–29%)

Abnormality of the breast

Trait	Kuinka usein sitä esiintyy
Wide-spaced nipples	Usein (30–79%)
Inverted nipples	Joskus (5–29%)

Abnormality of blood and blood-forming tissues

Trait	Kuinka usein sitä esiintyy
Bleeding in brain	Harvinainen (1–4 %)

Abnormality of the immune system

Trait	Kuinka usein sitä esiintyy
Recurrent infections	Joskus (5–29%)

Abnormality of the thoracic cavity

Trait	Kuinka usein sitä esiintyy
Abnormal mediastinum morphology	Harvinainen (1–4 %)

Kuinka usein ilmiö esiintyy ihmisillä, joilla on jokin geenin sairauksista, niin kuin Human Phenotype Ontology sen kirjaa. Nämä sivut kuvaavat piirteitä ja niiden taustalla olevaa tutkimusta, eivätkä ne ole diagnoosi. Oireista kannattaa kysyä lääkäriltä tai geneettiseltä neuvojalta.

Mistä tämä tieto tulee

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.

Yksi testi. Vastauksia koko elämäksi.

Alkaen 449 $Ilmainen toimitus · Tulokset 6–8 viikossa

Tilaa Genome Test