Trăsături

Trăsături asociate cu SEMA4A

semaphorin 4A

Human Phenotype Ontology asociază 90 trăsături cu SEMA4A, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Abnormal electroretinogram	Foarte des (80–99%)
Abnormal retinal pigmentation	Foarte des (80–99%)
Blindness	Foarte des (80–99%)
Difficulties with night vision	Foarte des (80–99%)
Extreme sensitivity of the eyes to light	Foarte des (80–99%)
Involuntary, rapid, rhythmic eye movements	Foarte des (80–99%)
Optic atrophy	Foarte des (80–99%)
Progressive night blindness	Foarte des (80–99%)
Retina degeneration	Foarte des (80–99%)
Spicular pigmentation of the retina	Foarte des (80–99%)
Visual impairment	Foarte des (80–99%)
Abnormal central response of multifocal electroretinogram	Des (30–79%)
Abnormal color vision	Des (30–79%)
Abnormal full-field electroretinogram	Des (30–79%)
Blind spot located at fixation point	Des (30–79%)
Bulging cornea	Des (30–79%)
Color blindness	Des (30–79%)
Cystoid macular edema	Des (30–79%)
Eye muscle paralysis	Des (30–79%)
Glaucoma	Des (30–79%)
Loss of peripheral vision	Des (30–79%)
Optic disc drusen	Des (30–79%)
Optic disc pallor	Des (30–79%)
Photoreceptor outer segment loss on macular OCT	Des (30–79%)
Posterior subcapsular cataract	Des (30–79%)
Progressive loss of vision	Des (30–79%)
Retinal atrophy	Des (30–79%)
Amaurosis fugax	Uneori (5–29%)
Decreased clarity of vision	Uneori (5–29%)
Metamorphopsia	Uneori (5–29%)
Partial loss of field of vision	Uneori (5–29%)
Photopsia	Uneori (5–29%)
Increased tears	Neînregistrat
Macular degeneration	Neînregistrat
Rod-cone dystrophy	Neînregistrat

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Glioblastoma multiforme	Foarte des (80–99%)
Anxiety	Des (30–79%)
Attention deficit	Des (30–79%)
Behavioral abnormality	Des (30–79%)
Depression	Des (30–79%)
Epilepsy	Des (30–79%)
Irritability	Des (30–79%)
Migraine	Des (30–79%)
Rise in pressure inside skull	Des (30–79%)
Abnormal gait	Uneori (5–29%)
Abnormal pyramidal sign	Uneori (5–29%)
Abnormal speech pattern	Uneori (5–29%)
Benign neoplasm of the central nervous system	Uneori (5–29%)
Cancer of early nerve cells	Uneori (5–29%)
Difficulty articulating speech	Uneori (5–29%)
Disorder of involuntary muscle movements	Uneori (5–29%)
Disturbed sensory perception	Uneori (5–29%)
Dysgraphia	Uneori (5–29%)
Hallucinations	Uneori (5–29%)
Loss of developmental milestones	Uneori (5–29%)
Memory impairment	Uneori (5–29%)
Paralysis or weakness of one side of body	Uneori (5–29%)
Pins and needles feeling	Uneori (5–29%)

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Abdominal pain	Foarte des (80–99%)
Constipation	Foarte des (80–99%)
Malabsorption	Foarte des (80–99%)
Nausea and vomiting	Des (30–79%)
Rectal tumor	Des (30–79%)
Cancer of the pancreas	Uneori (5–29%)
Colon tumor	Uneori (5–29%)
Hepatocellular carcinoma	Uneori (5–29%)
Pancreatic adenocarcinoma	Uneori (5–29%)
Stomach cancer	Rar (1–4%)

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Urinary tract neoplasm	Uneori (5–29%)
Uterine cancer	Rar (1–4%)
Kidney cancer	Neînregistrat
Ovarian cancer	Neînregistrat

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Low muscle tone	Des (30–79%)
Spasticity and rigidity of muscles	Des (30–79%)
Flexed joint that cannot be straightened	Uneori (5–29%)
Skeletal tumor	Uneori (5–29%)

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Abnormality of retina blood vessels	Foarte des (80–99%)
Narrowing of blood vessels in back of eye	Des (30–79%)
Cardiac diverticulum	Uneori (5–29%)

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Conductive deafness	Foarte des (80–99%)
Sensorineural hearing impairment	Foarte des (80–99%)

Abnormality of the endocrine system

Trăsătură	Cât de frecvent apare
Neoplasm of the thyroid gland	Uneori (5–29%)
Noncancerous tumor in pituitary gland	Uneori (5–29%)

Laboratory abnormality

Trăsătură	Cât de frecvent apare
Hyperinsulinemia	Des (30–79%)
Abnormality of creatine metabolism	Uneori (5–29%)

Abnormality of blood and blood-forming tissues

Trăsătură	Cât de frecvent apare
Gastrointestinal bleeding	Des (30–79%)

Abnormality of the breast

Trăsătură	Cât de frecvent apare
Breast tumor	Neînregistrat

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Basal cell carcinoma	Uneori (5–29%)

Constitutional symptom

Trăsătură	Cât de frecvent apare
Fatigue	Foarte des (80–99%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Weight loss	Foarte des (80–99%)

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

Human Phenotype Ontology, versiunea 2026-09-01: trăsăturile asociate cu SEMA4A și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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