Kjennetegn

Kjennetegn knyttet til TRAF7

TNF receptor associated factor 7

Human Phenotype Ontology knytter 143 kjennetegn til TRAF7, sortert etter kroppssystem: trekk som ses hos personer med en av genets sjeldne tilstander.

Abnormality of the nervous system

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

Abnormality of the endocrine system

Kjennetegn	Hvor ofte den forekommer
Decreased circulating ACTH concentration	Ofte (30–79 %)
Decreased circulating follicle stimulating hormone concentration	Ofte (30–79 %)
Decreased circulating luteinizing hormone level	Ofte (30–79 %)
Decreased serum estradiol	Ofte (30–79 %)
Decreased serum testosterone level	Ofte (30–79 %)
Hypogonadotropic hypogonadism	Ofte (30–79 %)
Increased circulating prolactin concentration	Ofte (30–79 %)
Low blood cortisol level	Ofte (30–79 %)
Low thyroid gland function due to abnormal pituitary gland	Ofte (30–79 %)
Secondary growth hormone deficiency	Ofte (30–79 %)
Abnormal hypothalamus physiology	Noen ganger (5–29 %)
Enlarged pituitary gland	Noen ganger (5–29 %)
Hypothalamic hypothyroidism	Noen ganger (5–29 %)
Neoplasm of the anterior pituitary	Noen ganger (5–29 %)
Reduced circulating prolactin concentration	Noen ganger (5–29 %)
Neoplasm of the posterior pituitary	Sjelden (1–4%)

Abnormality of head or neck

Kjennetegn	Hvor ofte den forekommer
Bulbous nose	Ofte (30–79 %)
Corners of eye widely separated	Ofte (30–79 %)
Eye folds	Ofte (30–79 %)
Narrow opening between the eyelids	Ofte (30–79 %)
Short neck	Ofte (30–79 %)
Thickened skin folds of neck	Ofte (30–79 %)
Abnormality of the sense of smell	Noen ganger (5–29 %)
Abnormally small head	Noen ganger (5–29 %)
Bell's palsy	Noen ganger (5–29 %)
Big calvaria	Noen ganger (5–29 %)
Cystic hygroma	Noen ganger (5–29 %)
Deformity of the skull	Noen ganger (5–29 %)
Nasal tip, upturned	Noen ganger (5–29 %)
Redundant neck skin	Noen ganger (5–29 %)
Neoplasm of the tongue	Sjelden (1–4%)

Abnormality of the eye

Kjennetegn	Hvor ofte den forekommer
Bitemporal hemianopia	Ofte (30–79 %)
Drooping upper eyelid	Ofte (30–79 %)
Wide-set eyes	Ofte (30–79 %)
Abnormal kinetic perimetry test	Noen ganger (5–29 %)
Cerebral visual impairment	Noen ganger (5–29 %)
Cross-eyed	Noen ganger (5–29 %)
Eye muscle paralysis	Noen ganger (5–29 %)
Oculomotor nerve palsy	Noen ganger (5–29 %)
Optic atrophy	Noen ganger (5–29 %)
Papilledema	Noen ganger (5–29 %)
Slow decrease in sharpness of vision	Noen ganger (5–29 %)
Visual acuity test abnormality	Noen ganger (5–29 %)
Weak extraocular muscles	Noen ganger (5–29 %)
Blindness	Sjelden (1–4%)
Bulging eye	Sjelden (1–4%)

Abnormality of the cardiovascular system

Kjennetegn	Hvor ofte den forekommer
Patent ductus arteriosus	Ofte (30–79 %)
An opening in the wall separating the top two chambers of the heart	Noen ganger (5–29 %)
Aortic valve has two leaflets rather than three	Noen ganger (5–29 %)
Double outlet right ventricle	Noen ganger (5–29 %)
Hole in heart wall separating two lower heart chambers	Noen ganger (5–29 %)
Mitral atresia	Noen ganger (5–29 %)
Narrowing of aorta	Noen ganger (5–29 %)
Narrowing of aortic valve	Noen ganger (5–29 %)
Pulmonary artery atresia	Noen ganger (5–29 %)
Supravalvar pulmonary stenosis	Noen ganger (5–29 %)
Underdeveloped left heart	Noen ganger (5–29 %)
Fainting spell	Sjelden (1–4%)

Abnormality of limbs

Kjennetegn	Hvor ofte den forekommer
Curvature of digit	Ofte (30–79 %)
Decreased arm strength	Noen ganger (5–29 %)
Dropped arches	Noen ganger (5–29 %)
Finger bends toward pinky	Noen ganger (5–29 %)
Fluid accumulation in lower limbs	Noen ganger (5–29 %)
Gap between 1st and 2nd toes	Noen ganger (5–29 %)
Long big toe	Noen ganger (5–29 %)
Lower limb muscle weakness	Noen ganger (5–29 %)
Overlapping toe	Noen ganger (5–29 %)
Radial deviation of finger	Noen ganger (5–29 %)
Webbed fingers or toes	Noen ganger (5–29 %)

Abnormality of the musculoskeletal system

Kjennetegn	Hvor ofte den forekommer
Low muscle tone	Ofte (30–79 %)
Pigeon chest	Ofte (30–79 %)
Delayed bone maturation	Noen ganger (5–29 %)
Double-Jointed	Noen ganger (5–29 %)
Functional motor deficit	Noen ganger (5–29 %)
Joint contracture	Noen ganger (5–29 %)
Scoliosis	Noen ganger (5–29 %)
Spasticity and rigidity of muscles	Noen ganger (5–29 %)
Back pain	Sjelden (1–4%)

Abnormality of the digestive system

Kjennetegn	Hvor ofte den forekommer
Feeding difficulties	Ofte (30–79 %)
Nausea and vomiting	Ofte (30–79 %)
Inguinal hernia	Noen ganger (5–29 %)
Umbilical hernia	Noen ganger (5–29 %)
Stomach hernia	Sjelden (1–4%)

Abnormality of the ear

Kjennetegn	Hvor ofte den forekommer
Hearing impairment	Ofte (30–79 %)
Low-set ears	Noen ganger (5–29 %)
Ear pain	Sjelden (1–4%)
Ringing in ears	Sjelden (1–4%)

Abnormality of the integument

Kjennetegn	Hvor ofte den forekommer
Abnormal number of hair whorls	Ofte (30–79 %)
Chicken skin	Noen ganger (5–29 %)
Neurofibroma	Noen ganger (5–29 %)
Skin cancer	Sjelden (1–4%)

Growth abnormality

Kjennetegn	Hvor ofte den forekommer
Decreased body weight	Noen ganger (5–29 %)
Obesity	Noen ganger (5–29 %)
Prenatal growth deficiency	Noen ganger (5–29 %)
Short stature	Noen ganger (5–29 %)

Abnormality of the genitourinary system

Kjennetegn	Hvor ofte den forekommer
Abnormal absence of menstruation	Ofte (30–79 %)
Difficulty getting a full erection	Ofte (30–79 %)
Loss of bladder control	Sjelden (1–4%)

Abnormality of the respiratory system

Kjennetegn	Hvor ofte den forekommer
Neonatal respiratory distress	Ofte (30–79 %)
Abnormality on pulmonary function testing	Sjelden (1–4%)
Progressive pulmonary function impairment	Sjelden (1–4%)

Abnormal cellular phenotype

Kjennetegn	Hvor ofte den forekommer
Chromosomal breakage induced by ionizing radiation	Svært ofte (80–99 %)
Increased sensitivity to ionizing radiation	Svært ofte (80–99 %)

Abnormality of prenatal development or birth

Kjennetegn	Hvor ofte den forekommer
Only one artery in umbilical cord instead of two	Noen ganger (5–29 %)
Premature birth	Noen ganger (5–29 %)

Abnormality of the breast

Kjennetegn	Hvor ofte den forekommer
Wide-spaced nipples	Ofte (30–79 %)
Inverted nipples	Noen ganger (5–29 %)

Abnormality of blood and blood-forming tissues

Kjennetegn	Hvor ofte den forekommer
Bleeding in brain	Sjelden (1–4%)

Abnormality of the immune system

Kjennetegn	Hvor ofte den forekommer
Recurrent infections	Noen ganger (5–29 %)

Abnormality of the thoracic cavity

Kjennetegn	Hvor ofte den forekommer
Abnormal mediastinum morphology	Sjelden (1–4%)

Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.

Slik er informasjonen samlet

Human Phenotype Ontology, versjon 2026-09-01: kjennetegnene knyttet til TRAF7 og hvor ofte hvert enn observeres. Finn ut mer på hpo.jax.org.

Én test. En livstid med svar.

Fra 449 $Gratis frakt · Resultater på 6–8 uker

Få mitt Genome Test