Trăsături

Trăsături asociate cu SBDS

SBDS ribosome maturation factor

Human Phenotype Ontology asociază 94 trăsături cu SBDS, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

SBDS

Abnormality of blood and blood-forming tissues

Trăsătură	Cât de frecvent apare
Aplastic anemia	Întotdeauna
Low number of red blood cells or hemoglobin	Întotdeauna
Abnormality of blood and blood-forming tissues	Foarte des (80–99%)
Bone marrow failure	Foarte des (80–99%)
Low blood neutrophil count	Foarte des (80–99%)
Impaired neutrophil chemotaxis	Des (30–79%)
Increased mean corpuscular volume	Des (30–79%)
Low blood cell count	Des (30–79%)
Low platelet count	Des (30–79%)
Macrocytic anemia	Des (30–79%)
Myelodysplasia	Des (30–79%)
Normocytic anemia	Des (30–79%)
Persistently decreased total neutrophil count	Des (30–79%)
Reticulocytopenia	Des (30–79%)
Transiently decreased total neutrophil count	Des (30–79%)
Acute myeloid leukemia	Uneori (5–29%)
Bleeding gums	Uneori (5–29%)
Blood cancer	Uneori (5–29%)
Bloody nose	Uneori (5–29%)
Decreased blood leukocyte number	Uneori (5–29%)
Ecchymosis	Uneori (5–29%)
Retinal bleeding	Uneori (5–29%)
Persistence of hemoglobin F	Neînregistrat

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Anterior rib cupping	Întotdeauna
Abnormality of the skeletal system	Foarte des (80–99%)
Delayed bone maturation	Des (30–79%)
Abnormal shape of joints	Uneori (5–29%)
Compression fracture of a vertebral body	Uneori (5–29%)
Deformed rib cage	Uneori (5–29%)
Osteopenia	Uneori (5–29%)
Enlargement of the costochondral junction	Neînregistrat
Irregular ossification at anterior rib ends	Neînregistrat
Narrow chest	Neînregistrat
Narrow greater sciatic notch	Neînregistrat
Ovoid vertebral bodies	Neînregistrat

Abnormality of the immune system

Trăsătură	Cât de frecvent apare
Pneumonia	Uneori (5–29%)
Recurrent bacterial infections	Uneori (5–29%)
Recurrent infections	Uneori (5–29%)
Recurrent viral infections	Uneori (5–29%)
Skin rash	Uneori (5–29%)
Bone infection	Rar (1–4%)
Decreased immune function	Rar (1–4%)
Eczema	Rar (1–4%)
Infection in blood stream	Rar (1–4%)
Autoimmune antibody positivity	Neînregistrat

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Proximal femoral metaphyseal irregularity	Întotdeauna
Broad wide portion of long bone	Uneori (5–29%)
Irregular wide portion of a long bone	Uneori (5–29%)
Metaphyseal chondrodysplasia	Uneori (5–29%)
Abnormalities of the fingers	Rar (1–4%)
Slipped end part of innermost thighbone	Rar (1–4%)
Coxa vara	Neînregistrat
Increased bone density in wide portion of long bone	Neînregistrat

Laboratory abnormality

Trăsătură	Cât de frecvent apare
Decreased circulating vitamin K concentration	Des (30–79%)
Deficient in vitamin D	Des (30–79%)
Hypoamylasemia	Des (30–79%)
Increased serum bile acid concentration	Des (30–79%)
Vitamin A deficiency	Des (30–79%)
Vitamin E deficiency	Des (30–79%)
Diabetes mellitus	Rar (1–4%)
High liver enzymes	Rar (1–4%)

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Abnormality of the gastrointestinal tract	Foarte des (80–99%)
Fat malabsorption	Foarte des (80–99%)
Inability to properly digest food due to lack of pancreatic digestive enzymes	Foarte des (80–99%)
Fat in feces	Des (30–79%)
Malnutrition	Des (30–79%)
Underdeveloped pancreas	Des (30–79%)
Enlarged liver	Rar (1–4%)

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Behavioral abnormality	Des (30–79%)
Autism spectrum disorder	Uneori (5–29%)
Intellectual disability	Uneori (5–29%)
Short attention span	Uneori (5–29%)
Global developmental delay	Neînregistrat
Intellectual disability, mild	Neînregistrat
Specific learning disability	Neînregistrat

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Dental cavities	Uneori (5–29%)
Sinus disease	Uneori (5–29%)
Delayed eruption of teeth	Rar (1–4%)
Mouth sore	Rar (1–4%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Faltering weight	Des (30–79%)
Growth delay	Des (30–79%)
Short stature	Des (30–79%)
Small for gestational age	Neînregistrat

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Abnormality of the heart	Uneori (5–29%)
Myocardial necrosis	Neînregistrat

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Abnormality of the outer ear	Rar (1–4%)
Hearing impairment	Rar (1–4%)

Abnormality of the endocrine system

Trăsătură	Cât de frecvent apare
Decreased response to growth hormone stimulation test	Rar (1–4%)
Hypopituitarism	Rar (1–4%)

Abnormality of the respiratory system

Trăsătură	Cât de frecvent apare
Breathing difficulties	Neînregistrat
Neonatal respiratory distress	Neînregistrat

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Increased calcium level in kidney	Neînregistrat

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Ichthyosis	Rar (1–4%)

Abnormality of the thoracic cavity

Trăsătură	Cât de frecvent apare
Abnormality of the thoracic cavity	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 SBDS și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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