Trăsături

Trăsături asociate cu ATM

ATM serine/threonine kinase

Human Phenotype Ontology asociază 133 trăsături cu ATM, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Ataxia	Întotdeauna
Difficulty articulating speech	Întotdeauna
Progressive cerebellar ataxia	Întotdeauna
Abnormal gait	Foarte des (80–99%)
Abnormal speech pattern	Foarte des (80–99%)
Abnormality of movement	Foarte des (80–99%)
Choreoathetosis	Foarte des (80–99%)
Glioblastoma multiforme	Foarte des (80–99%)
Tremor	Foarte des (80–99%)
Anxiety	Des (30–79%)
Attention deficit	Des (30–79%)
Behavioral abnormality	Des (30–79%)
Delayed speech and language development	Des (30–79%)
Depression	Des (30–79%)
Difficulty performing quick and alternating movements	Des (30–79%)
Epilepsy	Des (30–79%)
Inability to walk	Des (30–79%)
Intention tremor	Des (30–79%)
Irritability	Des (30–79%)
Migraine	Des (30–79%)
Rise in pressure inside skull	Des (30–79%)
Slurred speech	Des (30–79%)
Abnormal pyramidal sign	Uneori (5–29%)
Benign neoplasm of the central nervous system	Uneori (5–29%)
Cancer of early nerve cells	Uneori (5–29%)
Cognitive impairment	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%)
Diminished deep tendon reflex	Neînregistrat
Dystonia	Neînregistrat
Jerking	Neînregistrat

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%)
Primary peritoneal carcinoma	Foarte des (80–99%)
Anorexia	Des (30–79%)
Chronic diarrhea	Des (30–79%)
Nausea and vomiting	Des (30–79%)
Rectal tumor	Des (30–79%)
Abnormality of the gastrointestinal tract	Uneori (5–29%)
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 blood and blood-forming tissues

Trăsătură	Cât de frecvent apare
B-cell lymphoma	Foarte des (80–99%)
Decreased blood lymphocyte number	Foarte des (80–99%)
Acute lymphoblastic leukemia	Des (30–79%)
Bone marrow disease	Des (30–79%)
Gastrointestinal bleeding	Des (30–79%)
Blood cancer	Neînregistrat
Cancer of lymphatic system	Neînregistrat
Decreased total CD4+ T cell proportion	Neînregistrat
Hodgkin lymphoma	Neînregistrat
Low T cell count	Neînregistrat
Non-Hodgkin lymphoma	Neînregistrat

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Abnormal fallopian tube morphology	Foarte des (80–99%)
Ovarian cancer	Foarte des (80–99%)
Polycystic ovaries	Foarte des (80–99%)
Abnormality of the testis	Uneori (5–29%)
Prostate cancer	Uneori (5–29%)
Urinary tract neoplasm	Uneori (5–29%)
Uterine cancer	Rar (1–4%)
Abnormal sperm development	Neînregistrat
Kidney cancer	Neînregistrat

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Premature graying of hair	Foarte des (80–99%)
Prematurely aged appearance	Foarte des (80–99%)
Loss of hair color	Des (30–79%)
Absent/small skin	Uneori (5–29%)
Basal cell carcinoma	Uneori (5–29%)
Multiple birthmarks	Uneori (5–29%)
Abnormality of the hair	Neînregistrat
Birthmark	Neînregistrat

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Absent/small thymus	Foarte des (80–99%)
Mucosal telangiectasiae	Foarte des (80–99%)
Swollen lymph nodes	Foarte des (80–99%)
Telangiectasia of the skin	Foarte des (80–99%)
Increased spleen size	Des (30–79%)
Cardiac diverticulum	Uneori (5–29%)
Small thymus	Neînregistrat

Laboratory abnormality

Trăsătură	Cât de frecvent apare
Elevated circulating alpha-fetoprotein concentration	Întotdeauna
High liver enzymes	Foarte des (80–99%)
Diabetes mellitus	Des (30–79%)
Fever	Des (30–79%)
Abnormality of creatine metabolism	Uneori (5–29%)
Noninsulin-dependent diabetes	Uneori (5–29%)
Glucose intolerance	Neînregistrat

Abnormal cellular phenotype

Trăsătură	Cât de frecvent apare
Abnormality of chromosome stability	Foarte des (80–99%)
Decreased circulating antibody level	Foarte des (80–99%)
Decreased circulating IgA concentration	Des (30–79%)
Decreased circulating IgG concentration	Neînregistrat
Decreased circulating IgG2 concentration	Neînregistrat
Defective B cell differentiation	Neînregistrat

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Abnormality of eye movement	Foarte des (80–99%)
Cross-eyed	Foarte des (80–99%)
Involuntary, rapid, rhythmic eye movements	Foarte des (80–99%)
Amaurosis fugax	Uneori (5–29%)
Partial loss of field of vision	Uneori (5–29%)
Visual impairment	Uneori (5–29%)

Abnormality of the immune system

Trăsătură	Cât de frecvent apare
Recurrent chest infections	Întotdeauna
Abnormality of the immune system	Foarte des (80–99%)
Cellular immunodeficiency	Foarte des (80–99%)
Decreased immune function	Foarte des (80–99%)
Recurrent respiratory infections	Foarte des (80–99%)
Recurrent bronchitis	Neînregistrat

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Involuntary muscle stiffness, contraction, or spasm	Des (30–79%)
Low muscle tone	Des (30–79%)
Muscle degeneration	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 endocrine system

Trăsătură	Cât de frecvent apare
Delayed puberty	Foarte des (80–99%)
Neoplasm of the thyroid gland	Uneori (5–29%)
Noncancerous tumor in pituitary gland	Uneori (5–29%)
Female hypogonadism	Neînregistrat

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Small dilated blood vessels near membrane covering front of eye and eyelids	Întotdeauna
Abnormally small head	Des (30–79%)
Sinus disease	Neînregistrat

Growth abnormality

Trăsătură	Cât de frecvent apare
Weight loss	Foarte des (80–99%)
Faltering weight	Des (30–79%)
Short stature	Des (30–79%)

Abnormal tissue mass

Trăsătură	Cât de frecvent apare
Abnormal tissue mass	Des (30–79%)
Cancer of skin pigment cells	Uneori (5–29%)

Abnormality of the breast

Trăsătură	Cât de frecvent apare
Breast cancer	Des (30–79%)
Breast tumor	Neînregistrat

Abnormality of the respiratory system

Trăsătură	Cât de frecvent apare
Permanent enlargement of the airways of the lungs	Neînregistrat

Constitutional symptom

Trăsătură	Cât de frecvent apare
Fatigue	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 ATM și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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