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

Abnormality of the endocrine system

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

Abnormality of head or neck

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

Abnormality of the eye

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

Abnormality of the cardiovascular system

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

Abnormality of limbs

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

Abnormality of the musculoskeletal system

Trait	Hoe vaak het voorkomt
Low muscle tone	Vaak (30–79%)
Pigeon chest	Vaak (30–79%)
Delayed bone maturation	Soms (5–29%)
Double-Jointed	Soms (5–29%)
Functional motor deficit	Soms (5–29%)
Joint contracture	Soms (5–29%)
Scoliosis	Soms (5–29%)
Spasticity and rigidity of muscles	Soms (5–29%)
Back pain	Zelden (1–4%)

Abnormality of the digestive system

Trait	Hoe vaak het voorkomt
Feeding difficulties	Vaak (30–79%)
Nausea and vomiting	Vaak (30–79%)
Inguinal hernia	Soms (5–29%)
Umbilical hernia	Soms (5–29%)
Stomach hernia	Zelden (1–4%)

Abnormality of the ear

Trait	Hoe vaak het voorkomt
Hearing impairment	Vaak (30–79%)
Low-set ears	Soms (5–29%)
Ear pain	Zelden (1–4%)
Ringing in ears	Zelden (1–4%)

Abnormality of the integument

Trait	Hoe vaak het voorkomt
Abnormal number of hair whorls	Vaak (30–79%)
Chicken skin	Soms (5–29%)
Neurofibroma	Soms (5–29%)
Skin cancer	Zelden (1–4%)

Growth abnormality

Trait	Hoe vaak het voorkomt
Decreased body weight	Soms (5–29%)
Obesity	Soms (5–29%)
Prenatal growth deficiency	Soms (5–29%)
Short stature	Soms (5–29%)

Abnormality of the genitourinary system

Trait	Hoe vaak het voorkomt
Abnormal absence of menstruation	Vaak (30–79%)
Difficulty getting a full erection	Vaak (30–79%)
Loss of bladder control	Zelden (1–4%)

Abnormality of the respiratory system

Trait	Hoe vaak het voorkomt
Neonatal respiratory distress	Vaak (30–79%)
Abnormality on pulmonary function testing	Zelden (1–4%)
Progressive pulmonary function impairment	Zelden (1–4%)

Abnormal cellular phenotype

Trait	Hoe vaak het voorkomt
Chromosomal breakage induced by ionizing radiation	Heel vaak (80–99%)
Increased sensitivity to ionizing radiation	Heel vaak (80–99%)

Abnormality of prenatal development or birth

Trait	Hoe vaak het voorkomt
Only one artery in umbilical cord instead of two	Soms (5–29%)
Premature birth	Soms (5–29%)

Abnormality of the breast

Trait	Hoe vaak het voorkomt
Wide-spaced nipples	Vaak (30–79%)
Inverted nipples	Soms (5–29%)

Abnormality of blood and blood-forming tissues

Trait	Hoe vaak het voorkomt
Bleeding in brain	Zelden (1–4%)

Abnormality of the immune system

Trait	Hoe vaak het voorkomt
Recurrent infections	Soms (5–29%)

Abnormality of the thoracic cavity

Trait	Hoe vaak het voorkomt
Abnormal mediastinum morphology	Zelden (1–4%)

Hoe vaak dit voorkomt bij mensen met een van de aandoeningen van het gen, de hoogste frequentie binnen die aandoeningen, zoals de Human Phenotype Ontology dit vastlegt. Deze pagina's beschrijven kenmerken en het onderzoek erachter; het zijn geen diagnose, en over symptomen kunt u het best een arts of genetisch adviseur raadplegen.

Waar dit vandaan komt

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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