Trăsături

Trăsături asociate cu NPM1

nucleophosmin 1

Human Phenotype Ontology asociază 97 trăsături cu NPM1, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

NPM1

Abnormality of blood and blood-forming tissues

Trăsătură	Cât de frecvent apare
Abnormality of neutrophils	Foarte des (80–99%)
Low number of red blood cells or hemoglobin	Foarte des (80–99%)
Low platelet count	Foarte des (80–99%)
Abnormality of coagulation	Des (30–79%)
Bleeding gums	Des (30–79%)
Bleeding tendency	Des (30–79%)
Blood spots	Des (30–79%)
Bloody nose	Des (30–79%)
Bone marrow failure	Des (30–79%)
Bone marrow hypercellularity	Des (30–79%)
Bruising susceptibility	Des (30–79%)
Decreased blood leukocyte number	Des (30–79%)
Disseminated intravascular coagulation	Des (30–79%)
Ecchymosis	Des (30–79%)
Low blood cell count	Des (30–79%)
Petechiae	Des (30–79%)
Cancer of lymphatic system	Uneori (5–29%)
Diffuse alveolar hemorrhage	Uneori (5–29%)
Elevated white blood count	Uneori (5–29%)
Hypofibrinogenemia	Uneori (5–29%)
Low blood neutrophil count	Uneori (5–29%)
Oral cavity bleeding	Uneori (5–29%)
Acute myeloid leukemia	Neînregistrat

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Abnormal blistering of the skin	Foarte des (80–99%)
Abnormal fingernails	Foarte des (80–99%)
Flat, discolored area of skin	Foarte des (80–99%)
Hyperpigmented skin patches	Foarte des (80–99%)
Poor nail formation	Foarte des (80–99%)
Absent/small skin	Des (30–79%)
Absent/small toenails	Des (30–79%)
Excessive sweating	Des (30–79%)
Open skin sore	Des (30–79%)
Patchy loss of skin color	Des (30–79%)
Sparse hair	Des (30–79%)
Hair loss	Uneori (5–29%)
Premature graying of hair	Uneori (5–29%)
Skin vesicle	Uneori (5–29%)
White hair	Uneori (5–29%)

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Oral white patch	Foarte des (80–99%)
Abnormal dentition	Des (30–79%)
Dental cavities	Des (30–79%)
Failure of development of between one and six teeth	Des (30–79%)
Gum disease	Des (30–79%)
Taurodontia	Des (30–79%)
Abnormal eyelashes	Uneori (5–29%)
Abnormality of the eyebrow	Uneori (5–29%)
Decreased size of maxilla	Uneori (5–29%)
Gum enlargement	Uneori (5–29%)
Inflammation of eyelids	Uneori (5–29%)
Inflammation of the mouth	Uneori (5–29%)

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Abnormal connection between trachea and esophagus	Des (30–79%)
Anorectal anomaly	Des (30–79%)
Anorexia	Des (30–79%)
Malabsorption	Des (30–79%)
Narrowing of the esophagus	Des (30–79%)
Abdominal pain	Uneori (5–29%)
Cancer of the pancreas	Uneori (5–29%)
Enlarged liver	Uneori (5–29%)
Liver failure	Uneori (5–29%)
Scar tissue replaces healthy tissue in the liver	Uneori (5–29%)

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Muscle weakness	Des (30–79%)
Recurrent fractures	Des (30–79%)
Abnormal deposits of calcium in the brain	Uneori (5–29%)
Bone pain	Uneori (5–29%)
Death of bone due to decreased blood supply	Uneori (5–29%)
Osteoporosis	Uneori (5–29%)
Scoliosis	Uneori (5–29%)

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Abnormal morphology of female internal genitalia	Des (30–79%)
Narrowing of the urethra	Des (30–79%)
Abnormality of the testis	Uneori (5–29%)
Displacement of the urethral meatus	Uneori (5–29%)
Abnormal uterus bleeding	Rar (1–4%)

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Telangiectasia of the skin	Des (30–79%)
Increased spleen size	Uneori (5–29%)
Swollen lymph nodes	Uneori (5–29%)

Abnormality of the immune system

Trăsătură	Cât de frecvent apare
Cellular immunodeficiency	Des (30–79%)
Chronic infection	Des (30–79%)
Recurrent respiratory infections	Des (30–79%)

Abnormality of the respiratory system

Trăsătură	Cât de frecvent apare
Abnormality of the pharynx	Des (30–79%)
Exertional breathlessness	Des (30–79%)
Wet cough	Uneori (5–29%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Prenatal growth deficiency	Des (30–79%)
Short stature	Des (30–79%)
Weight loss	Des (30–79%)

Laboratory abnormality

Trăsătură	Cât de frecvent apare
Fever	Des (30–79%)
Diabetes mellitus	Uneori (5–29%)
Blood in urine	Rar (1–4%)

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Coarse metaphyseal trabecularization	Des (30–79%)
Thickening of palms and soles	Uneori (5–29%)

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Dizziness	Des (30–79%)
Hearing impairment	Uneori (5–29%)

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Global developmental delay	Des (30–79%)
Addictive alcohol use	Uneori (5–29%)

Constitutional symptom

Trăsătură	Cât de frecvent apare
Fatigue	Des (30–79%)
Death of body tissue due to lack of blood flow or infection	Rar (1–4%)

Abnormal tissue mass

Trăsătură	Cât de frecvent apare
Abnormal tissue mass	Des (30–79%)

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Clouding of the lens of the eye	Uneori (5–29%)

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 NPM1 și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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