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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.
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ConectareÎntrebațiSecvențiați-vă genomul↗
AtlasCui ne adresămȘtiința noastrăProduseRezultate
ConectareÎntrebațiSecvențiați-vă genomul↗
Abnormality of the nervous system
Abnormality of the endocrine system
| Trait | Cât de frecvent apare |
|---|---|
| Decreased circulating ACTH concentration | Des (30–79%) |
| Decreased circulating follicle stimulating hormone concentration | Des (30–79%) |
| Decreased circulating luteinizing hormone level | Des (30–79%) |
| Decreased serum estradiol | Des (30–79%) |
| Decreased serum testosterone level | Des (30–79%) |
| Hypogonadotropic hypogonadism | Des (30–79%) |
| Increased circulating prolactin concentration | Des (30–79%) |
| Low blood cortisol level | Des (30–79%) |
| Low thyroid gland function due to abnormal pituitary gland | Des (30–79%) |
| Secondary growth hormone deficiency | Des (30–79%) |
| Abnormal hypothalamus physiology | Uneori (5–29%) |
| Enlarged pituitary gland | Uneori (5–29%) |
| Hypothalamic hypothyroidism | Uneori (5–29%) |
| Neoplasm of the anterior pituitary | Uneori (5–29%) |
| Reduced circulating prolactin concentration | Uneori (5–29%) |
| Neoplasm of the posterior pituitary | Rar (1–4%) |
Abnormality of head or neck
| Trait | Cât de frecvent apare |
|---|---|
| Bulbous nose | Des (30–79%) |
| Corners of eye widely separated | Des (30–79%) |
| Eye folds | Des (30–79%) |
| Narrow opening between the eyelids | Des (30–79%) |
| Short neck | Des (30–79%) |
| Thickened skin folds of neck | Des (30–79%) |
| Abnormality of the sense of smell | Uneori (5–29%) |
| Abnormally small head | Uneori (5–29%) |
| Bell's palsy | Uneori (5–29%) |
| Big calvaria | Uneori (5–29%) |
| Cystic hygroma | Uneori (5–29%) |
| Deformity of the skull | Uneori (5–29%) |
| Nasal tip, upturned | Uneori (5–29%) |
| Redundant neck skin | Uneori (5–29%) |
| Neoplasm of the tongue | Rar (1–4%) |
Abnormality of the eye
| Trait | Cât de frecvent apare |
|---|---|
| Bitemporal hemianopia | Des (30–79%) |
| Drooping upper eyelid | Des (30–79%) |
| Wide-set eyes | Des (30–79%) |
| Abnormal kinetic perimetry test | Uneori (5–29%) |
| Cerebral visual impairment | Uneori (5–29%) |
| Cross-eyed | Uneori (5–29%) |
| Eye muscle paralysis | Uneori (5–29%) |
| Oculomotor nerve palsy | Uneori (5–29%) |
| Optic atrophy | Uneori (5–29%) |
| Papilledema | Uneori (5–29%) |
| Slow decrease in sharpness of vision | Uneori (5–29%) |
| Visual acuity test abnormality | Uneori (5–29%) |
| Weak extraocular muscles | Uneori (5–29%) |
| Blindness | Rar (1–4%) |
| Bulging eye | Rar (1–4%) |
Abnormality of the cardiovascular system
| Trait | Cât de frecvent apare |
|---|---|
| Patent ductus arteriosus | Des (30–79%) |
| An opening in the wall separating the top two chambers of the heart | Uneori (5–29%) |
| Aortic valve has two leaflets rather than three | Uneori (5–29%) |
| Double outlet right ventricle | Uneori (5–29%) |
| Hole in heart wall separating two lower heart chambers | Uneori (5–29%) |
| Mitral atresia | Uneori (5–29%) |
| Narrowing of aorta | Uneori (5–29%) |
| Narrowing of aortic valve | Uneori (5–29%) |
| Pulmonary artery atresia | Uneori (5–29%) |
| Supravalvar pulmonary stenosis | Uneori (5–29%) |
| Underdeveloped left heart | Uneori (5–29%) |
| Fainting spell | Rar (1–4%) |
Abnormality of limbs
| Trait | Cât de frecvent apare |
|---|---|
| Curvature of digit | Des (30–79%) |
| Decreased arm strength | Uneori (5–29%) |
| Dropped arches | Uneori (5–29%) |
| Finger bends toward pinky | Uneori (5–29%) |
| Fluid accumulation in lower limbs | Uneori (5–29%) |
| Gap between 1st and 2nd toes | Uneori (5–29%) |
| Long big toe | Uneori (5–29%) |
| Lower limb muscle weakness | Uneori (5–29%) |
| Overlapping toe | Uneori (5–29%) |
| Radial deviation of finger | Uneori (5–29%) |
| Webbed fingers or toes | Uneori (5–29%) |
Abnormality of the musculoskeletal system
| Trait | Cât de frecvent apare |
|---|---|
| Low muscle tone | Des (30–79%) |
| Pigeon chest | Des (30–79%) |
| Delayed bone maturation | Uneori (5–29%) |
| Double-Jointed | Uneori (5–29%) |
| Functional motor deficit | Uneori (5–29%) |
| Joint contracture | Uneori (5–29%) |
| Scoliosis | Uneori (5–29%) |
| Spasticity and rigidity of muscles | Uneori (5–29%) |
| Back pain | Rar (1–4%) |
Abnormality of the digestive system
| Trait | Cât de frecvent apare |
|---|---|
| Feeding difficulties | Des (30–79%) |
| Nausea and vomiting | Des (30–79%) |
| Inguinal hernia | Uneori (5–29%) |
| Umbilical hernia | Uneori (5–29%) |
| Stomach hernia | Rar (1–4%) |
Abnormality of the ear
| Trait | Cât de frecvent apare |
|---|---|
| Hearing impairment | Des (30–79%) |
| Low-set ears | Uneori (5–29%) |
| Ear pain | Rar (1–4%) |
| Ringing in ears | Rar (1–4%) |
Abnormality of the integument
| Trait | Cât de frecvent apare |
|---|---|
| Abnormal number of hair whorls | Des (30–79%) |
| Chicken skin | Uneori (5–29%) |
| Neurofibroma | Uneori (5–29%) |
| Skin cancer | Rar (1–4%) |
Growth abnormality
| Trait | Cât de frecvent apare |
|---|---|
| Decreased body weight | Uneori (5–29%) |
| Obesity | Uneori (5–29%) |
| Prenatal growth deficiency | Uneori (5–29%) |
| Short stature | Uneori (5–29%) |
Abnormality of the genitourinary system
| Trait | Cât de frecvent apare |
|---|---|
| Abnormal absence of menstruation | Des (30–79%) |
| Difficulty getting a full erection | Des (30–79%) |
| Loss of bladder control | Rar (1–4%) |
Abnormality of the respiratory system
| Trait | Cât de frecvent apare |
|---|---|
| Neonatal respiratory distress | Des (30–79%) |
| Abnormality on pulmonary function testing | Rar (1–4%) |
| Progressive pulmonary function impairment | Rar (1–4%) |
Abnormal cellular phenotype
| Trait | Cât de frecvent apare |
|---|---|
| Chromosomal breakage induced by ionizing radiation | Foarte des (80–99%) |
| Increased sensitivity to ionizing radiation | Foarte des (80–99%) |
Abnormality of prenatal development or birth
| Trait | Cât de frecvent apare |
|---|---|
| Only one artery in umbilical cord instead of two | Uneori (5–29%) |
| Premature birth | Uneori (5–29%) |
Abnormality of the breast
| Trait | Cât de frecvent apare |
|---|---|
| Wide-spaced nipples | Des (30–79%) |
| Inverted nipples | Uneori (5–29%) |
Abnormality of blood and blood-forming tissues
| Trait | Cât de frecvent apare |
|---|---|
| Bleeding in brain | Rar (1–4%) |
Abnormality of the immune system
| Trait | Cât de frecvent apare |
|---|---|
| Recurrent infections | Uneori (5–29%) |
Abnormality of the thoracic cavity
| Trait | Cât de frecvent apare |
|---|---|
| Abnormal mediastinum morphology | Rar (1–4%) |
Cât de frecvent apare în rândul persoanelor cu una dintre afecțiunile asociate genei, cel mai des întâlnit dintre acestea, conform Human Phenotype Ontology. Aceste pagini descriu trăsături și cercetările din spatele lor; ele nu reprezintă un diagnostic, iar pentru simptome trebuie să vă adresați medicului sau consilierului genetic.
De unde provin aceste informații
- 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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