Trăsături

Trăsături asociate cu TGFB1

transforming growth factor beta 1

Human Phenotype Ontology asociază 144 trăsături cu TGFB1, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

TGFB1

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Bloody diarrhea	Întotdeauna
Inability to properly digest food due to lack of pancreatic digestive enzymes	Foarte des (80–99%)
Malabsorption	Foarte des (80–99%)
Anoperineal fistula	Des (30–79%)
Candida esophagitis	Des (30–79%)
Eosinophilic infiltration of the esophagus	Des (30–79%)
Pancolitis	Des (30–79%)
Perianal abscess	Des (30–79%)
Abnormality of the liver	Uneori (5–29%)
Acid reflux	Uneori (5–29%)
Anorexia	Uneori (5–29%)
Diarrhea	Uneori (5–29%)
Enlarged liver	Uneori (5–29%)
Fat in feces	Uneori (5–29%)
Feeding difficulties in infancy	Uneori (5–29%)
Meconium ileus	Uneori (5–29%)
Pancreatic inflammation	Uneori (5–29%)
Rectum protrudes through anus	Uneori (5–29%)
Ileus	Rar (1–4%)
Scar tissue replaces healthy tissue in the liver	Rar (1–4%)
Biliary cirrhosis	Neînregistrat
Poor appetite	Neînregistrat

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Lower limb pain	Întotdeauna
Abnormal skeletal development	Foarte des (80–99%)
Abnormality of the vertebral column	Foarte des (80–99%)
Bone overgrowth	Foarte des (80–99%)
Bone pain	Foarte des (80–99%)
Scoliosis	Foarte des (80–99%)
Involuntary muscle stiffness, contraction, or spasm	Des (30–79%)
Limb pain	Des (30–79%)
Limitation of joint mobility	Des (30–79%)
Muscle degeneration	Des (30–79%)
Muscle weakness	Des (30–79%)
Tired easily	Des (30–79%)
Abnormal shape of pelvic girdle bone	Uneori (5–29%)
Hunched back	Uneori (5–29%)
Osteopenia	Uneori (5–29%)
Prominent swayback	Uneori (5–29%)
Osteoporosis	Rar (1–4%)
Generalized decreased muscle tone	Neînregistrat
Increased bone mineral density	Neînregistrat
Narrowing of medullary canal	Neînregistrat

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Degeneration of cerebrum	Întotdeauna
Focal impaired awareness seizure	Des (30–79%)
Hypsarrhythmia	Des (30–79%)
Myoclonic seizure	Des (30–79%)
Waddling gait	Des (30–79%)
Abnormal speech pattern	Uneori (5–29%)
Anxiety	Uneori (5–29%)
Ataxia	Uneori (5–29%)
Damage to nerves that sense feeling	Uneori (5–29%)
Depression	Uneori (5–29%)
Cranial nerve compression	Neînregistrat
Delayed CNS myelination	Neînregistrat
Encephalopathy	Neînregistrat
Global developmental delay	Neînregistrat
Headache	Neînregistrat
Out-toeing	Neînregistrat
Underdevelopment of part of brain called corpus callosum	Neînregistrat

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Abnormal humerus morphology	Foarte des (80–99%)
Abnormal morphology of the radius	Foarte des (80–99%)
Abnormal morphology of ulna	Foarte des (80–99%)
Abnormal shape of shaft of long bone	Foarte des (80–99%)
Abnormality of the thighbone	Foarte des (80–99%)
Aplasia/Hypoplasia of the radius	Foarte des (80–99%)
Cortical thickening of long bone diaphyses	Foarte des (80–99%)
Abnormality of the shankbone	Des (30–79%)
Clubbing of fingers	Des (30–79%)
Metaphyseal dysplasia	Des (30–79%)
Coxa valga	Uneori (5–29%)
Dropped arches	Uneori (5–29%)
Knock knees	Uneori (5–29%)
Increased bone density in shaft of long bone	Neînregistrat

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Abnormality of the skull	Foarte des (80–99%)
Craniofacial osteosclerosis	Foarte des (80–99%)
Chronic sinus disease	Des (30–79%)
Abnormal facial shape	Uneori (5–29%)
Bell's palsy	Uneori (5–29%)
Delayed eruption of teeth	Uneori (5–29%)
Dental cavities	Uneori (5–29%)
Frontal bossing	Uneori (5–29%)
Sinus disease	Uneori (5–29%)
Nasal polyposis	Rar (1–4%)
Big lower jaw	Neînregistrat
Dense bone of skull base	Neînregistrat

Abnormality of the immune system

Trăsătură	Cât de frecvent apare
Recurrent respiratory infections	Foarte des (80–99%)
Recurrent pneumonia	Des (30–79%)
Severe varicella zoster infection	Des (30–79%)
Asthma	Uneori (5–29%)
Recurrent Aspergillus infection	Uneori (5–29%)
Recurrent chest infections	Uneori (5–29%)
Recurrent Haemophilus influenzae infection	Uneori (5–29%)
Recurrent Staphylococcus aureus infection	Uneori (5–29%)
Nontuberculous mycobacterial pulmonary infection	Rar (1–4%)
Recurrent Burkholderia cepacia infection	Rar (1–4%)
Recurrent infections in bronchi and lungs	Neînregistrat

Abnormality of the respiratory system

Trăsătură	Cât de frecvent apare
Obstructive lung disease	Foarte des (80–99%)
Permanent enlargement of the airways of the lungs	Foarte des (80–99%)
Decreased forced expiratory flow 25-75%	Des (30–79%)
Reduced forced expiratory volume in one second	Des (30–79%)
Coughing up blood	Uneori (5–29%)
Reduced forced vital capacity	Uneori (5–29%)
Collapsed lung	Rar (1–4%)
Chronic lung disease	Neînregistrat
Hyperpolarized transepithelial nasal potential difference	Neînregistrat

Abnormality of blood and blood-forming tissues

Trăsătură	Cât de frecvent apare
Elevated white blood count	Des (30–79%)
Hypochromic anemia	Des (30–79%)
Increased number of platelets in blood	Des (30–79%)
Decreased blood leukocyte number	Uneori (5–29%)
Low number of red blood cells or hemoglobin	Uneori (5–29%)
Bone marrow failure	Neînregistrat

Laboratory abnormality

Trăsătură	Cât de frecvent apare
Elevated sweat chloride	Întotdeauna
Elevated circulating aldolase concentration	Foarte des (80–99%)
Dehydration	Uneori (5–29%)
High ESR	Uneori (5–29%)
High liver enzymes	Uneori (5–29%)
Elevated urine calcium levels	Neînregistrat

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Bulging eye	Des (30–79%)
Glaucoma	Uneori (5–29%)
Optic atrophy	Uneori (5–29%)
Optic nerve compression	Uneori (5–29%)
Double vision	Neînregistrat

Abnormal cellular phenotype

Trăsătură	Cât de frecvent apare
Increased circulating IgE concentration	Des (30–79%)
Increased circulating IgG concentration	Des (30–79%)
Abnormal T cell proliferation	Neînregistrat
Decreased T cell activation	Neînregistrat

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Cor pulmonale	Uneori (5–29%)
Enlarged and thickened heart muscle	Uneori (5–29%)
Increased spleen size	Uneori (5–29%)
Enlarged liver and spleen	Rar (1–4%)

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Absent vas deferens	Foarte des (80–99%)
Male infertility	Des (30–79%)
Urinary retention	Uneori (5–29%)
Kidney stone	Rar (1–4%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Wasting syndrome	Foarte des (80–99%)
Faltering weight	Des (30–79%)
Decreased body mass index	Uneori (5–29%)
Slender build	Uneori (5–29%)

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Salty tasting skin	Des (30–79%)
Abnormal fat tissue distribution below the skin	Uneori (5–29%)
Reduced fat tissue below the skin	Neînregistrat

Abnormality of the endocrine system

Trăsătură	Cât de frecvent apare
Decreased activity of gonads	Uneori (5–29%)
Delayed puberty	Uneori (5–29%)

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Hearing impairment	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 TGFB1 și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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