Tunnused

Geeniga TRAF7 seotud tunnused

TNF receptor associated factor 7

Inimese fenotüübi ontoloogia seostab geeniga TRAF7 143 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.

Abnormality of the nervous system

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

Abnormality of the endocrine system

Tunnus	Kui sageli seda täheldatakse
Decreased circulating ACTH concentration	Sageli (30–79%)
Decreased circulating follicle stimulating hormone concentration	Sageli (30–79%)
Decreased circulating luteinizing hormone level	Sageli (30–79%)
Decreased serum estradiol	Sageli (30–79%)
Decreased serum testosterone level	Sageli (30–79%)
Hypogonadotropic hypogonadism	Sageli (30–79%)
Increased circulating prolactin concentration	Sageli (30–79%)
Low blood cortisol level	Sageli (30–79%)
Low thyroid gland function due to abnormal pituitary gland	Sageli (30–79%)
Secondary growth hormone deficiency	Sageli (30–79%)
Abnormal hypothalamus physiology	Mõnikord (5–29%)
Enlarged pituitary gland	Mõnikord (5–29%)
Hypothalamic hypothyroidism	Mõnikord (5–29%)
Neoplasm of the anterior pituitary	Mõnikord (5–29%)
Reduced circulating prolactin concentration	Mõnikord (5–29%)
Neoplasm of the posterior pituitary	Harva (1–4%)

Abnormality of head or neck

Tunnus	Kui sageli seda täheldatakse
Bulbous nose	Sageli (30–79%)
Corners of eye widely separated	Sageli (30–79%)
Eye folds	Sageli (30–79%)
Narrow opening between the eyelids	Sageli (30–79%)
Short neck	Sageli (30–79%)
Thickened skin folds of neck	Sageli (30–79%)
Abnormality of the sense of smell	Mõnikord (5–29%)
Abnormally small head	Mõnikord (5–29%)
Bell's palsy	Mõnikord (5–29%)
Big calvaria	Mõnikord (5–29%)
Cystic hygroma	Mõnikord (5–29%)
Deformity of the skull	Mõnikord (5–29%)
Nasal tip, upturned	Mõnikord (5–29%)
Redundant neck skin	Mõnikord (5–29%)
Neoplasm of the tongue	Harva (1–4%)

Abnormality of the eye

Tunnus	Kui sageli seda täheldatakse
Bitemporal hemianopia	Sageli (30–79%)
Drooping upper eyelid	Sageli (30–79%)
Wide-set eyes	Sageli (30–79%)
Abnormal kinetic perimetry test	Mõnikord (5–29%)
Cerebral visual impairment	Mõnikord (5–29%)
Cross-eyed	Mõnikord (5–29%)
Eye muscle paralysis	Mõnikord (5–29%)
Oculomotor nerve palsy	Mõnikord (5–29%)
Optic atrophy	Mõnikord (5–29%)
Papilledema	Mõnikord (5–29%)
Slow decrease in sharpness of vision	Mõnikord (5–29%)
Visual acuity test abnormality	Mõnikord (5–29%)
Weak extraocular muscles	Mõnikord (5–29%)
Blindness	Harva (1–4%)
Bulging eye	Harva (1–4%)

Abnormality of the cardiovascular system

Tunnus	Kui sageli seda täheldatakse
Patent ductus arteriosus	Sageli (30–79%)
An opening in the wall separating the top two chambers of the heart	Mõnikord (5–29%)
Aortic valve has two leaflets rather than three	Mõnikord (5–29%)
Double outlet right ventricle	Mõnikord (5–29%)
Hole in heart wall separating two lower heart chambers	Mõnikord (5–29%)
Mitral atresia	Mõnikord (5–29%)
Narrowing of aorta	Mõnikord (5–29%)
Narrowing of aortic valve	Mõnikord (5–29%)
Pulmonary artery atresia	Mõnikord (5–29%)
Supravalvar pulmonary stenosis	Mõnikord (5–29%)
Underdeveloped left heart	Mõnikord (5–29%)
Fainting spell	Harva (1–4%)

Abnormality of limbs

Tunnus	Kui sageli seda täheldatakse
Curvature of digit	Sageli (30–79%)
Decreased arm strength	Mõnikord (5–29%)
Dropped arches	Mõnikord (5–29%)
Finger bends toward pinky	Mõnikord (5–29%)
Fluid accumulation in lower limbs	Mõnikord (5–29%)
Gap between 1st and 2nd toes	Mõnikord (5–29%)
Long big toe	Mõnikord (5–29%)
Lower limb muscle weakness	Mõnikord (5–29%)
Overlapping toe	Mõnikord (5–29%)
Radial deviation of finger	Mõnikord (5–29%)
Webbed fingers or toes	Mõnikord (5–29%)

Abnormality of the musculoskeletal system

Tunnus	Kui sageli seda täheldatakse
Low muscle tone	Sageli (30–79%)
Pigeon chest	Sageli (30–79%)
Delayed bone maturation	Mõnikord (5–29%)
Double-Jointed	Mõnikord (5–29%)
Functional motor deficit	Mõnikord (5–29%)
Joint contracture	Mõnikord (5–29%)
Scoliosis	Mõnikord (5–29%)
Spasticity and rigidity of muscles	Mõnikord (5–29%)
Back pain	Harva (1–4%)

Abnormality of the digestive system

Tunnus	Kui sageli seda täheldatakse
Feeding difficulties	Sageli (30–79%)
Nausea and vomiting	Sageli (30–79%)
Inguinal hernia	Mõnikord (5–29%)
Umbilical hernia	Mõnikord (5–29%)
Stomach hernia	Harva (1–4%)

Abnormality of the ear

Tunnus	Kui sageli seda täheldatakse
Hearing impairment	Sageli (30–79%)
Low-set ears	Mõnikord (5–29%)
Ear pain	Harva (1–4%)
Ringing in ears	Harva (1–4%)

Abnormality of the integument

Tunnus	Kui sageli seda täheldatakse
Abnormal number of hair whorls	Sageli (30–79%)
Chicken skin	Mõnikord (5–29%)
Neurofibroma	Mõnikord (5–29%)
Skin cancer	Harva (1–4%)

Growth abnormality

Tunnus	Kui sageli seda täheldatakse
Decreased body weight	Mõnikord (5–29%)
Obesity	Mõnikord (5–29%)
Prenatal growth deficiency	Mõnikord (5–29%)
Short stature	Mõnikord (5–29%)

Abnormality of the genitourinary system

Tunnus	Kui sageli seda täheldatakse
Abnormal absence of menstruation	Sageli (30–79%)
Difficulty getting a full erection	Sageli (30–79%)
Loss of bladder control	Harva (1–4%)

Abnormality of the respiratory system

Tunnus	Kui sageli seda täheldatakse
Neonatal respiratory distress	Sageli (30–79%)
Abnormality on pulmonary function testing	Harva (1–4%)
Progressive pulmonary function impairment	Harva (1–4%)

Abnormal cellular phenotype

Tunnus	Kui sageli seda täheldatakse
Chromosomal breakage induced by ionizing radiation	Väga sageli (80–99%)
Increased sensitivity to ionizing radiation	Väga sageli (80–99%)

Abnormality of prenatal development or birth

Tunnus	Kui sageli seda täheldatakse
Only one artery in umbilical cord instead of two	Mõnikord (5–29%)
Premature birth	Mõnikord (5–29%)

Abnormality of the breast

Tunnus	Kui sageli seda täheldatakse
Wide-spaced nipples	Sageli (30–79%)
Inverted nipples	Mõnikord (5–29%)

Abnormality of blood and blood-forming tissues

Tunnus	Kui sageli seda täheldatakse
Bleeding in brain	Harva (1–4%)

Abnormality of the immune system

Tunnus	Kui sageli seda täheldatakse
Recurrent infections	Mõnikord (5–29%)

Abnormality of the thoracic cavity

Tunnus	Kui sageli seda täheldatakse
Abnormal mediastinum morphology	Harva (1–4%)

Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.

Allikas

Inimese fenotüübi ontoloogia, versioon 2026-09-01: geeniga TRAF7 seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.

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