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Tunnused
Geeniga TGFB1 seotud tunnused
transforming growth factor beta 1
Inimese fenotüübi ontoloogia seostab geeniga TGFB1 144 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.
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AtlasKellele me abi osutameMeie teadusTootedTulemused
Logi sisseKüsiSekveneeri oma genoom↗
Abnormality of the digestive system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Bloody diarrhea | Alati |
| Inability to properly digest food due to lack of pancreatic digestive enzymes | Väga sageli (80–99%) |
| Malabsorption | Väga sageli (80–99%) |
| Anoperineal fistula | Sageli (30–79%) |
| Candida esophagitis | Sageli (30–79%) |
| Eosinophilic infiltration of the esophagus | Sageli (30–79%) |
| Pancolitis | Sageli (30–79%) |
| Perianal abscess | Sageli (30–79%) |
| Abnormality of the liver | Mõnikord (5–29%) |
| Acid reflux | Mõnikord (5–29%) |
| Anorexia | Mõnikord (5–29%) |
| Diarrhea | Mõnikord (5–29%) |
| Enlarged liver | Mõnikord (5–29%) |
| Fat in feces | Mõnikord (5–29%) |
| Feeding difficulties in infancy | Mõnikord (5–29%) |
| Meconium ileus | Mõnikord (5–29%) |
| Pancreatic inflammation | Mõnikord (5–29%) |
| Rectum protrudes through anus | Mõnikord (5–29%) |
| Ileus | Harva (1–4%) |
| Scar tissue replaces healthy tissue in the liver | Harva (1–4%) |
| Biliary cirrhosis | Pole registreeritud |
| Poor appetite | Pole registreeritud |
Abnormality of the musculoskeletal system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Lower limb pain | Alati |
| Abnormal skeletal development | Väga sageli (80–99%) |
| Abnormality of the vertebral column | Väga sageli (80–99%) |
| Bone overgrowth | Väga sageli (80–99%) |
| Bone pain | Väga sageli (80–99%) |
| Scoliosis | Väga sageli (80–99%) |
| Involuntary muscle stiffness, contraction, or spasm | Sageli (30–79%) |
| Limb pain | Sageli (30–79%) |
| Limitation of joint mobility | Sageli (30–79%) |
| Muscle degeneration | Sageli (30–79%) |
| Muscle weakness | Sageli (30–79%) |
| Tired easily | Sageli (30–79%) |
| Abnormal shape of pelvic girdle bone | Mõnikord (5–29%) |
| Hunched back | Mõnikord (5–29%) |
| Osteopenia | Mõnikord (5–29%) |
| Prominent swayback | Mõnikord (5–29%) |
| Osteoporosis | Harva (1–4%) |
| Generalized decreased muscle tone | Pole registreeritud |
| Increased bone mineral density | Pole registreeritud |
| Narrowing of medullary canal | Pole registreeritud |
Abnormality of the nervous system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Degeneration of cerebrum | Alati |
| Focal impaired awareness seizure | Sageli (30–79%) |
| Hypsarrhythmia | Sageli (30–79%) |
| Myoclonic seizure | Sageli (30–79%) |
| Waddling gait | Sageli (30–79%) |
| Abnormal speech pattern | Mõnikord (5–29%) |
| Anxiety | Mõnikord (5–29%) |
| Ataxia | Mõnikord (5–29%) |
| Damage to nerves that sense feeling | Mõnikord (5–29%) |
| Depression | Mõnikord (5–29%) |
| Cranial nerve compression | Pole registreeritud |
| Delayed CNS myelination | Pole registreeritud |
| Encephalopathy | Pole registreeritud |
| Global developmental delay | Pole registreeritud |
| Headache | Pole registreeritud |
| Out-toeing | Pole registreeritud |
| Underdevelopment of part of brain called corpus callosum | Pole registreeritud |
Abnormality of limbs
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Abnormal humerus morphology | Väga sageli (80–99%) |
| Abnormal morphology of the radius | Väga sageli (80–99%) |
| Abnormal morphology of ulna | Väga sageli (80–99%) |
| Abnormal shape of shaft of long bone | Väga sageli (80–99%) |
| Abnormality of the thighbone | Väga sageli (80–99%) |
| Aplasia/Hypoplasia of the radius | Väga sageli (80–99%) |
| Cortical thickening of long bone diaphyses | Väga sageli (80–99%) |
| Abnormality of the shankbone | Sageli (30–79%) |
| Clubbing of fingers | Sageli (30–79%) |
| Metaphyseal dysplasia | Sageli (30–79%) |
| Coxa valga | Mõnikord (5–29%) |
| Dropped arches | Mõnikord (5–29%) |
| Knock knees | Mõnikord (5–29%) |
| Increased bone density in shaft of long bone | Pole registreeritud |
Abnormality of head or neck
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Abnormality of the skull | Väga sageli (80–99%) |
| Craniofacial osteosclerosis | Väga sageli (80–99%) |
| Chronic sinus disease | Sageli (30–79%) |
| Abnormal facial shape | Mõnikord (5–29%) |
| Bell's palsy | Mõnikord (5–29%) |
| Delayed eruption of teeth | Mõnikord (5–29%) |
| Dental cavities | Mõnikord (5–29%) |
| Frontal bossing | Mõnikord (5–29%) |
| Sinus disease | Mõnikord (5–29%) |
| Nasal polyposis | Harva (1–4%) |
| Big lower jaw | Pole registreeritud |
| Dense bone of skull base | Pole registreeritud |
Abnormality of the immune system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Recurrent respiratory infections | Väga sageli (80–99%) |
| Recurrent pneumonia | Sageli (30–79%) |
| Severe varicella zoster infection | Sageli (30–79%) |
| Asthma | Mõnikord (5–29%) |
| Recurrent Aspergillus infection | Mõnikord (5–29%) |
| Recurrent chest infections | Mõnikord (5–29%) |
| Recurrent Haemophilus influenzae infection | Mõnikord (5–29%) |
| Recurrent Staphylococcus aureus infection | Mõnikord (5–29%) |
| Nontuberculous mycobacterial pulmonary infection | Harva (1–4%) |
| Recurrent Burkholderia cepacia infection | Harva (1–4%) |
| Recurrent infections in bronchi and lungs | Pole registreeritud |
Abnormality of the respiratory system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Obstructive lung disease | Väga sageli (80–99%) |
| Permanent enlargement of the airways of the lungs | Väga sageli (80–99%) |
| Decreased forced expiratory flow 25-75% | Sageli (30–79%) |
| Reduced forced expiratory volume in one second | Sageli (30–79%) |
| Coughing up blood | Mõnikord (5–29%) |
| Reduced forced vital capacity | Mõnikord (5–29%) |
| Collapsed lung | Harva (1–4%) |
| Chronic lung disease | Pole registreeritud |
| Hyperpolarized transepithelial nasal potential difference | Pole registreeritud |
Abnormality of blood and blood-forming tissues
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Elevated white blood count | Sageli (30–79%) |
| Hypochromic anemia | Sageli (30–79%) |
| Increased number of platelets in blood | Sageli (30–79%) |
| Decreased blood leukocyte number | Mõnikord (5–29%) |
| Low number of red blood cells or hemoglobin | Mõnikord (5–29%) |
| Bone marrow failure | Pole registreeritud |
Laboratory abnormality
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Elevated sweat chloride | Alati |
| Elevated circulating aldolase concentration | Väga sageli (80–99%) |
| Dehydration | Mõnikord (5–29%) |
| High ESR | Mõnikord (5–29%) |
| High liver enzymes | Mõnikord (5–29%) |
| Elevated urine calcium levels | Pole registreeritud |
Abnormality of the eye
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Bulging eye | Sageli (30–79%) |
| Glaucoma | Mõnikord (5–29%) |
| Optic atrophy | Mõnikord (5–29%) |
| Optic nerve compression | Mõnikord (5–29%) |
| Double vision | Pole registreeritud |
Abnormal cellular phenotype
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Increased circulating IgE concentration | Sageli (30–79%) |
| Increased circulating IgG concentration | Sageli (30–79%) |
| Abnormal T cell proliferation | Pole registreeritud |
| Decreased T cell activation | Pole registreeritud |
Abnormality of the cardiovascular system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Cor pulmonale | Mõnikord (5–29%) |
| Enlarged and thickened heart muscle | Mõnikord (5–29%) |
| Increased spleen size | Mõnikord (5–29%) |
| Enlarged liver and spleen | Harva (1–4%) |
Abnormality of the genitourinary system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Absent vas deferens | Väga sageli (80–99%) |
| Male infertility | Sageli (30–79%) |
| Urinary retention | Mõnikord (5–29%) |
| Kidney stone | Harva (1–4%) |
Growth abnormality
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Wasting syndrome | Väga sageli (80–99%) |
| Faltering weight | Sageli (30–79%) |
| Decreased body mass index | Mõnikord (5–29%) |
| Slender build | Mõnikord (5–29%) |
Abnormality of the integument
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Salty tasting skin | Sageli (30–79%) |
| Abnormal fat tissue distribution below the skin | Mõnikord (5–29%) |
| Reduced fat tissue below the skin | Pole registreeritud |
Abnormality of the endocrine system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Decreased activity of gonads | Mõnikord (5–29%) |
| Delayed puberty | Mõnikord (5–29%) |
Abnormality of the ear
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Hearing impairment | Mõnikord (5–29%) |
Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.
Allikas
- Inimese fenotüübi ontoloogia, versioon 2026-09-01: geeniga TGFB1 seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.
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