Özellikler

TRAF7 ile ilişkili özellikler

TNF receptor associated factor 7

Human Phenotype Ontology, TRAF7 ile ilişkili 143 özelliği vücut sistemine göre listeliyor: genin nadir hastalıklarından birine sahip kişilerde görülen özellikler.

Abnormality of the nervous system

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

Abnormality of the endocrine system

Özellik	Ne sıklıkla görüldüğü
Decreased circulating ACTH concentration	Sık (%30–79)
Decreased circulating follicle stimulating hormone concentration	Sık (%30–79)
Decreased circulating luteinizing hormone level	Sık (%30–79)
Decreased serum estradiol	Sık (%30–79)
Decreased serum testosterone level	Sık (%30–79)
Hypogonadotropic hypogonadism	Sık (%30–79)
Increased circulating prolactin concentration	Sık (%30–79)
Low blood cortisol level	Sık (%30–79)
Low thyroid gland function due to abnormal pituitary gland	Sık (%30–79)
Secondary growth hormone deficiency	Sık (%30–79)
Abnormal hypothalamus physiology	Bazen (%5–29)
Enlarged pituitary gland	Bazen (%5–29)
Hypothalamic hypothyroidism	Bazen (%5–29)
Neoplasm of the anterior pituitary	Bazen (%5–29)
Reduced circulating prolactin concentration	Bazen (%5–29)
Neoplasm of the posterior pituitary	Seyrek (%1–4)

Abnormality of head or neck

Özellik	Ne sıklıkla görüldüğü
Bulbous nose	Sık (%30–79)
Corners of eye widely separated	Sık (%30–79)
Eye folds	Sık (%30–79)
Narrow opening between the eyelids	Sık (%30–79)
Short neck	Sık (%30–79)
Thickened skin folds of neck	Sık (%30–79)
Abnormality of the sense of smell	Bazen (%5–29)
Abnormally small head	Bazen (%5–29)
Bell's palsy	Bazen (%5–29)
Big calvaria	Bazen (%5–29)
Cystic hygroma	Bazen (%5–29)
Deformity of the skull	Bazen (%5–29)
Nasal tip, upturned	Bazen (%5–29)
Redundant neck skin	Bazen (%5–29)
Neoplasm of the tongue	Seyrek (%1–4)

Abnormality of the eye

Özellik	Ne sıklıkla görüldüğü
Bitemporal hemianopia	Sık (%30–79)
Drooping upper eyelid	Sık (%30–79)
Wide-set eyes	Sık (%30–79)
Abnormal kinetic perimetry test	Bazen (%5–29)
Cerebral visual impairment	Bazen (%5–29)
Cross-eyed	Bazen (%5–29)
Eye muscle paralysis	Bazen (%5–29)
Oculomotor nerve palsy	Bazen (%5–29)
Optic atrophy	Bazen (%5–29)
Papilledema	Bazen (%5–29)
Slow decrease in sharpness of vision	Bazen (%5–29)
Visual acuity test abnormality	Bazen (%5–29)
Weak extraocular muscles	Bazen (%5–29)
Blindness	Seyrek (%1–4)
Bulging eye	Seyrek (%1–4)

Abnormality of the cardiovascular system

Özellik	Ne sıklıkla görüldüğü
Patent ductus arteriosus	Sık (%30–79)
An opening in the wall separating the top two chambers of the heart	Bazen (%5–29)
Aortic valve has two leaflets rather than three	Bazen (%5–29)
Double outlet right ventricle	Bazen (%5–29)
Hole in heart wall separating two lower heart chambers	Bazen (%5–29)
Mitral atresia	Bazen (%5–29)
Narrowing of aorta	Bazen (%5–29)
Narrowing of aortic valve	Bazen (%5–29)
Pulmonary artery atresia	Bazen (%5–29)
Supravalvar pulmonary stenosis	Bazen (%5–29)
Underdeveloped left heart	Bazen (%5–29)
Fainting spell	Seyrek (%1–4)

Abnormality of limbs

Özellik	Ne sıklıkla görüldüğü
Curvature of digit	Sık (%30–79)
Decreased arm strength	Bazen (%5–29)
Dropped arches	Bazen (%5–29)
Finger bends toward pinky	Bazen (%5–29)
Fluid accumulation in lower limbs	Bazen (%5–29)
Gap between 1st and 2nd toes	Bazen (%5–29)
Long big toe	Bazen (%5–29)
Lower limb muscle weakness	Bazen (%5–29)
Overlapping toe	Bazen (%5–29)
Radial deviation of finger	Bazen (%5–29)
Webbed fingers or toes	Bazen (%5–29)

Abnormality of the musculoskeletal system

Özellik	Ne sıklıkla görüldüğü
Low muscle tone	Sık (%30–79)
Pigeon chest	Sık (%30–79)
Delayed bone maturation	Bazen (%5–29)
Double-Jointed	Bazen (%5–29)
Functional motor deficit	Bazen (%5–29)
Joint contracture	Bazen (%5–29)
Scoliosis	Bazen (%5–29)
Spasticity and rigidity of muscles	Bazen (%5–29)
Back pain	Seyrek (%1–4)

Abnormality of the digestive system

Özellik	Ne sıklıkla görüldüğü
Feeding difficulties	Sık (%30–79)
Nausea and vomiting	Sık (%30–79)
Inguinal hernia	Bazen (%5–29)
Umbilical hernia	Bazen (%5–29)
Stomach hernia	Seyrek (%1–4)

Abnormality of the ear

Özellik	Ne sıklıkla görüldüğü
Hearing impairment	Sık (%30–79)
Low-set ears	Bazen (%5–29)
Ear pain	Seyrek (%1–4)
Ringing in ears	Seyrek (%1–4)

Abnormality of the integument

Özellik	Ne sıklıkla görüldüğü
Abnormal number of hair whorls	Sık (%30–79)
Chicken skin	Bazen (%5–29)
Neurofibroma	Bazen (%5–29)
Skin cancer	Seyrek (%1–4)

Growth abnormality

Özellik	Ne sıklıkla görüldüğü
Decreased body weight	Bazen (%5–29)
Obesity	Bazen (%5–29)
Prenatal growth deficiency	Bazen (%5–29)
Short stature	Bazen (%5–29)

Abnormality of the genitourinary system

Özellik	Ne sıklıkla görüldüğü
Abnormal absence of menstruation	Sık (%30–79)
Difficulty getting a full erection	Sık (%30–79)
Loss of bladder control	Seyrek (%1–4)

Abnormality of the respiratory system

Özellik	Ne sıklıkla görüldüğü
Neonatal respiratory distress	Sık (%30–79)
Abnormality on pulmonary function testing	Seyrek (%1–4)
Progressive pulmonary function impairment	Seyrek (%1–4)

Abnormal cellular phenotype

Özellik	Ne sıklıkla görüldüğü
Chromosomal breakage induced by ionizing radiation	Çok sık (%80–99)
Increased sensitivity to ionizing radiation	Çok sık (%80–99)

Abnormality of prenatal development or birth

Özellik	Ne sıklıkla görüldüğü
Only one artery in umbilical cord instead of two	Bazen (%5–29)
Premature birth	Bazen (%5–29)

Abnormality of the breast

Özellik	Ne sıklıkla görüldüğü
Wide-spaced nipples	Sık (%30–79)
Inverted nipples	Bazen (%5–29)

Abnormality of blood and blood-forming tissues

Özellik	Ne sıklıkla görüldüğü
Bleeding in brain	Seyrek (%1–4)

Abnormality of the immune system

Özellik	Ne sıklıkla görüldüğü
Recurrent infections	Bazen (%5–29)

Abnormality of the thoracic cavity

Özellik	Ne sıklıkla görüldüğü
Abnormal mediastinum morphology	Seyrek (%1–4)

Bu özelliğin, genin ilişkili olduğu durumlardan birine sahip kişiler arasında ne sıklıkta görüldüğü; Human Phenotype Ontology'nin kaydettiği şekliyle, bunlar arasında en sık görülen oran. Bu sayfalar özellikleri ve bunların arkasındaki araştırmaları anlatır; tanı koymaz. Belirtiler hakkında bir doktora veya genetik danışmana başvurmanız gerekir.

Bilgilerin kaynağı

Human Phenotype Ontology, 2026-09-01 sürümü: TRAF7 ile ilişkili özellikler ve her birinin ne sıklıkla görüldüğü. Daha fazla bilgi için hpo.jax.org adresini ziyaret edin.

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