Trăsături

Trăsături asociate cu RPS20

ribosomal protein S20

Human Phenotype Ontology asociază 112 trăsături cu RPS20, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

RPS20

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%)
Lethargy	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%)
Neurodevelopmental delay	Uneori (5–29%)
Paralysis or weakness of one side of body	Uneori (5–29%)
Pins and needles feeling	Uneori (5–29%)

Abnormality of blood and blood-forming tissues

Trăsătură	Cât de frecvent apare
Elevated red cell adenosine deaminase activity	Foarte des (80–99%)
Pure red cell aplasia	Foarte des (80–99%)
Erythroid hypoplasia	Des (30–79%)
Gastrointestinal bleeding	Des (30–79%)
Increased mean corpuscular volume	Des (30–79%)
Macrocytic dyserythropoietic anemia	Des (30–79%)
Persistence of hemoglobin F	Des (30–79%)
Reticulocytopenia	Des (30–79%)
Decreased blood leukocyte number	Uneori (5–29%)
Myelodysplasia	Uneori (5–29%)
Normochromic anemia	Uneori (5–29%)
Acute myeloid leukemia	Rar (1–4%)
Increased number of platelets in blood	Rar (1–4%)
Low blood neutrophil count	Rar (1–4%)
Low platelet count	Rar (1–4%)

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Abnormality of the head	Des (30–79%)
Cleft lip	Uneori (5–29%)
Cleft soft palate	Uneori (5–29%)
High palate	Uneori (5–29%)
Short neck	Uneori (5–29%)
Webbed neck	Uneori (5–29%)
Abnormally small head	Rar (1–4%)
Depressed nasal bridge	Rar (1–4%)
Eye folds	Rar (1–4%)
Little lower jaw	Rar (1–4%)
Low frontal hairline	Rar (1–4%)
Wide nasal bridge	Rar (1–4%)

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%)
Adenocarcinoma of the colon	Rar (1–4%)
Stomach cancer	Rar (1–4%)

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Abnormality of the genitourinary system	Uneori (5–29%)
Absent kidney	Uneori (5–29%)
Horseshoe kidney	Uneori (5–29%)
Hypospadias	Uneori (5–29%)
Urinary tract neoplasm	Uneori (5–29%)
Malignant genitourinary tract tumor	Rar (1–4%)
Uterine cancer	Rar (1–4%)
Kidney cancer	Neînregistrat
Ovarian cancer	Neînregistrat

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Amaurosis fugax	Uneori (5–29%)
Partial loss of field of vision	Uneori (5–29%)
Visual impairment	Uneori (5–29%)
Clouding of the lens of the eye at birth	Rar (1–4%)
Cross-eyed	Rar (1–4%)
Developmental glaucoma	Rar (1–4%)
Drooping upper eyelid	Rar (1–4%)
Wide-set eyes	Rar (1–4%)

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Abnormality of the thenar eminence	Uneori (5–29%)
Abnormality of the upper limb	Uneori (5–29%)
Absent thumb	Uneori (5–29%)
Finger-like thumb	Uneori (5–29%)
Partial duplication of the thumb bones	Uneori (5–29%)
Short thumb	Uneori (5–29%)

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Abnormality of the heart	Uneori (5–29%)
An opening in the wall separating the top two chambers of the heart	Uneori (5–29%)
Cardiac diverticulum	Uneori (5–29%)
Hole in heart wall separating two lower heart chambers	Uneori (5–29%)
Radial artery aplasia	Uneori (5–29%)
Narrowing of aorta	Rar (1–4%)

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%)
High shoulder blade	Uneori (5–29%)
Skeletal tumor	Uneori (5–29%)
Bone cell cancer	Rar (1–4%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Weight loss	Foarte des (80–99%)
Growth delay	Des (30–79%)
Small for gestational age	Des (30–79%)
Short stature	Uneori (5–29%)

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Low-set ears	Rar (1–4%)
Small ears	Rar (1–4%)

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%)

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Paleness	Des (30–79%)
Basal cell carcinoma	Uneori (5–29%)

Laboratory abnormality

Trăsătură	Cât de frecvent apare
Abnormality of creatine metabolism	Uneori (5–29%)
Nonimmune hydrops fetalis	Rar (1–4%)

Abnormality of the breast

Trăsătură	Cât de frecvent apare
Breast tumor	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 RPS20 și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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