특성

TRAF7 연관 특성

TNF receptor associated factor 7

인간 표현형 온톨로지가 TRAF7에 연결하는 특성은 143개이며, 신체 계통별로 나뉩니다. 이 특성들은 이 유전자의 희귀 질환 중 하나를 가진 사람들에게서 관찰되는 특징입니다.

Abnormality of the nervous system

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

Abnormality of the endocrine system

특성	나타나는 빈도
Decreased circulating ACTH concentration	자주 (30–79%)
Decreased circulating follicle stimulating hormone concentration	자주 (30–79%)
Decreased circulating luteinizing hormone level	자주 (30–79%)
Decreased serum estradiol	자주 (30–79%)
Decreased serum testosterone level	자주 (30–79%)
Hypogonadotropic hypogonadism	자주 (30–79%)
Increased circulating prolactin concentration	자주 (30–79%)
Low blood cortisol level	자주 (30–79%)
Low thyroid gland function due to abnormal pituitary gland	자주 (30–79%)
Secondary growth hormone deficiency	자주 (30–79%)
Abnormal hypothalamus physiology	가끔 (5–29%)
Enlarged pituitary gland	가끔 (5–29%)
Hypothalamic hypothyroidism	가끔 (5–29%)
Neoplasm of the anterior pituitary	가끔 (5–29%)
Reduced circulating prolactin concentration	가끔 (5–29%)
Neoplasm of the posterior pituitary	드물게 (1–4%)

Abnormality of head or neck

특성	나타나는 빈도
Bulbous nose	자주 (30–79%)
Corners of eye widely separated	자주 (30–79%)
Eye folds	자주 (30–79%)
Narrow opening between the eyelids	자주 (30–79%)
Short neck	자주 (30–79%)
Thickened skin folds of neck	자주 (30–79%)
Abnormality of the sense of smell	가끔 (5–29%)
Abnormally small head	가끔 (5–29%)
Bell's palsy	가끔 (5–29%)
Big calvaria	가끔 (5–29%)
Cystic hygroma	가끔 (5–29%)
Deformity of the skull	가끔 (5–29%)
Nasal tip, upturned	가끔 (5–29%)
Redundant neck skin	가끔 (5–29%)
Neoplasm of the tongue	드물게 (1–4%)

Abnormality of the eye

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

Abnormality of the cardiovascular system

특성	나타나는 빈도
Patent ductus arteriosus	자주 (30–79%)
An opening in the wall separating the top two chambers of the heart	가끔 (5–29%)
Aortic valve has two leaflets rather than three	가끔 (5–29%)
Double outlet right ventricle	가끔 (5–29%)
Hole in heart wall separating two lower heart chambers	가끔 (5–29%)
Mitral atresia	가끔 (5–29%)
Narrowing of aorta	가끔 (5–29%)
Narrowing of aortic valve	가끔 (5–29%)
Pulmonary artery atresia	가끔 (5–29%)
Supravalvar pulmonary stenosis	가끔 (5–29%)
Underdeveloped left heart	가끔 (5–29%)
Fainting spell	드물게 (1–4%)

Abnormality of limbs

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

Abnormality of the musculoskeletal system

특성	나타나는 빈도
Low muscle tone	자주 (30–79%)
Pigeon chest	자주 (30–79%)
Delayed bone maturation	가끔 (5–29%)
Double-Jointed	가끔 (5–29%)
Functional motor deficit	가끔 (5–29%)
Joint contracture	가끔 (5–29%)
Scoliosis	가끔 (5–29%)
Spasticity and rigidity of muscles	가끔 (5–29%)
Back pain	드물게 (1–4%)

Abnormality of the digestive system

특성	나타나는 빈도
Feeding difficulties	자주 (30–79%)
Nausea and vomiting	자주 (30–79%)
Inguinal hernia	가끔 (5–29%)
Umbilical hernia	가끔 (5–29%)
Stomach hernia	드물게 (1–4%)

Abnormality of the ear

특성	나타나는 빈도
Hearing impairment	자주 (30–79%)
Low-set ears	가끔 (5–29%)
Ear pain	드물게 (1–4%)
Ringing in ears	드물게 (1–4%)

Abnormality of the integument

특성	나타나는 빈도
Abnormal number of hair whorls	자주 (30–79%)
Chicken skin	가끔 (5–29%)
Neurofibroma	가끔 (5–29%)
Skin cancer	드물게 (1–4%)

Growth abnormality

특성	나타나는 빈도
Decreased body weight	가끔 (5–29%)
Obesity	가끔 (5–29%)
Prenatal growth deficiency	가끔 (5–29%)
Short stature	가끔 (5–29%)

Abnormality of the genitourinary system

특성	나타나는 빈도
Abnormal absence of menstruation	자주 (30–79%)
Difficulty getting a full erection	자주 (30–79%)
Loss of bladder control	드물게 (1–4%)

Abnormality of the respiratory system

특성	나타나는 빈도
Neonatal respiratory distress	자주 (30–79%)
Abnormality on pulmonary function testing	드물게 (1–4%)
Progressive pulmonary function impairment	드물게 (1–4%)

Abnormal cellular phenotype

특성	나타나는 빈도
Chromosomal breakage induced by ionizing radiation	매우 자주 (80–99%)
Increased sensitivity to ionizing radiation	매우 자주 (80–99%)

Abnormality of prenatal development or birth

특성	나타나는 빈도
Only one artery in umbilical cord instead of two	가끔 (5–29%)
Premature birth	가끔 (5–29%)

Abnormality of the breast

특성	나타나는 빈도
Wide-spaced nipples	자주 (30–79%)
Inverted nipples	가끔 (5–29%)

Abnormality of blood and blood-forming tissues

특성	나타나는 빈도
Bleeding in brain	드물게 (1–4%)

Abnormality of the immune system

특성	나타나는 빈도
Recurrent infections	가끔 (5–29%)

Abnormality of the thoracic cavity

특성	나타나는 빈도
Abnormal mediastinum morphology	드물게 (1–4%)

Human Phenotype Ontology가 기록한, 해당 유전자와 관련된 질환을 가진 사람들 가운데 이 특징이 나타나는 빈도입니다. 이 페이지는 특징과 그 바탕이 되는 연구를 설명하며, 진단이 아닙니다. 증상에 대해서는 의사나 유전 상담사에게 문의하시기 바랍니다.

출처

인간 표현형 온톨로지 릴리스 2026-09-01: TRAF7에 연결된 특성과 각 특성이 관찰되는 빈도입니다. 자세한 내용은 hpo.jax.org에서 확인해 주세요.

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