AtlasKam padedameMūsų mokslasProduktaiRezultatai
PrisijungtiKlaustiSekvenuokite savo genomą↗
Požymiai
Su TGFB1 susiję požymiai
transforming growth factor beta 1
Žmogaus fenotipo ontologija sieja 144 požymių su TGFB1, pagal kūno sistemas: požymiai, pastebimi žmonėms, sergantiems viena iš šio geno retųjų ligų.
AtlasKam padedameMūsų mokslasProduktaiRezultatai
PrisijungtiKlaustiSekvenuokite savo genomą↗
AtlasKam padedameMūsų mokslasProduktaiRezultatai
PrisijungtiKlaustiSekvenuokite savo genomą↗
Abnormality of the digestive system
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Bloody diarrhea | Visada |
| Inability to properly digest food due to lack of pancreatic digestive enzymes | Labai dažnai (80–99%) |
| Malabsorption | Labai dažnai (80–99%) |
| Anoperineal fistula | Dažnai (30–79%) |
| Candida esophagitis | Dažnai (30–79%) |
| Eosinophilic infiltration of the esophagus | Dažnai (30–79%) |
| Pancolitis | Dažnai (30–79%) |
| Perianal abscess | Dažnai (30–79%) |
| Abnormality of the liver | Kartais (5–29%) |
| Acid reflux | Kartais (5–29%) |
| Anorexia | Kartais (5–29%) |
| Diarrhea | Kartais (5–29%) |
| Enlarged liver | Kartais (5–29%) |
| Fat in feces | Kartais (5–29%) |
| Feeding difficulties in infancy | Kartais (5–29%) |
| Meconium ileus | Kartais (5–29%) |
| Pancreatic inflammation | Kartais (5–29%) |
| Rectum protrudes through anus | Kartais (5–29%) |
| Ileus | Retai (1–4 %) |
| Scar tissue replaces healthy tissue in the liver | Retai (1–4 %) |
| Biliary cirrhosis | Neužfiksuota |
| Poor appetite | Neužfiksuota |
Abnormality of the musculoskeletal system
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Lower limb pain | Visada |
| Abnormal skeletal development | Labai dažnai (80–99%) |
| Abnormality of the vertebral column | Labai dažnai (80–99%) |
| Bone overgrowth | Labai dažnai (80–99%) |
| Bone pain | Labai dažnai (80–99%) |
| Scoliosis | Labai dažnai (80–99%) |
| Involuntary muscle stiffness, contraction, or spasm | Dažnai (30–79%) |
| Limb pain | Dažnai (30–79%) |
| Limitation of joint mobility | Dažnai (30–79%) |
| Muscle degeneration | Dažnai (30–79%) |
| Muscle weakness | Dažnai (30–79%) |
| Tired easily | Dažnai (30–79%) |
| Abnormal shape of pelvic girdle bone | Kartais (5–29%) |
| Hunched back | Kartais (5–29%) |
| Osteopenia | Kartais (5–29%) |
| Prominent swayback | Kartais (5–29%) |
| Osteoporosis | Retai (1–4 %) |
| Generalized decreased muscle tone | Neužfiksuota |
| Increased bone mineral density | Neužfiksuota |
| Narrowing of medullary canal | Neužfiksuota |
Abnormality of the nervous system
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Degeneration of cerebrum | Visada |
| Focal impaired awareness seizure | Dažnai (30–79%) |
| Hypsarrhythmia | Dažnai (30–79%) |
| Myoclonic seizure | Dažnai (30–79%) |
| Waddling gait | Dažnai (30–79%) |
| Abnormal speech pattern | Kartais (5–29%) |
| Anxiety | Kartais (5–29%) |
| Ataxia | Kartais (5–29%) |
| Damage to nerves that sense feeling | Kartais (5–29%) |
| Depression | Kartais (5–29%) |
| Cranial nerve compression | Neužfiksuota |
| Delayed CNS myelination | Neužfiksuota |
| Encephalopathy | Neužfiksuota |
| Global developmental delay | Neužfiksuota |
| Headache | Neužfiksuota |
| Out-toeing | Neužfiksuota |
| Underdevelopment of part of brain called corpus callosum | Neužfiksuota |
Abnormality of limbs
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Abnormal humerus morphology | Labai dažnai (80–99%) |
| Abnormal morphology of the radius | Labai dažnai (80–99%) |
| Abnormal morphology of ulna | Labai dažnai (80–99%) |
| Abnormal shape of shaft of long bone | Labai dažnai (80–99%) |
| Abnormality of the thighbone | Labai dažnai (80–99%) |
| Aplasia/Hypoplasia of the radius | Labai dažnai (80–99%) |
| Cortical thickening of long bone diaphyses | Labai dažnai (80–99%) |
| Abnormality of the shankbone | Dažnai (30–79%) |
| Clubbing of fingers | Dažnai (30–79%) |
| Metaphyseal dysplasia | Dažnai (30–79%) |
| Coxa valga | Kartais (5–29%) |
| Dropped arches | Kartais (5–29%) |
| Knock knees | Kartais (5–29%) |
| Increased bone density in shaft of long bone | Neužfiksuota |
Abnormality of head or neck
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Abnormality of the skull | Labai dažnai (80–99%) |
| Craniofacial osteosclerosis | Labai dažnai (80–99%) |
| Chronic sinus disease | Dažnai (30–79%) |
| Abnormal facial shape | Kartais (5–29%) |
| Bell's palsy | Kartais (5–29%) |
| Delayed eruption of teeth | Kartais (5–29%) |
| Dental cavities | Kartais (5–29%) |
| Frontal bossing | Kartais (5–29%) |
| Sinus disease | Kartais (5–29%) |
| Nasal polyposis | Retai (1–4 %) |
| Big lower jaw | Neužfiksuota |
| Dense bone of skull base | Neužfiksuota |
Abnormality of the immune system
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Recurrent respiratory infections | Labai dažnai (80–99%) |
| Recurrent pneumonia | Dažnai (30–79%) |
| Severe varicella zoster infection | Dažnai (30–79%) |
| Asthma | Kartais (5–29%) |
| Recurrent Aspergillus infection | Kartais (5–29%) |
| Recurrent chest infections | Kartais (5–29%) |
| Recurrent Haemophilus influenzae infection | Kartais (5–29%) |
| Recurrent Staphylococcus aureus infection | Kartais (5–29%) |
| Nontuberculous mycobacterial pulmonary infection | Retai (1–4 %) |
| Recurrent Burkholderia cepacia infection | Retai (1–4 %) |
| Recurrent infections in bronchi and lungs | Neužfiksuota |
Abnormality of the respiratory system
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Obstructive lung disease | Labai dažnai (80–99%) |
| Permanent enlargement of the airways of the lungs | Labai dažnai (80–99%) |
| Decreased forced expiratory flow 25-75% | Dažnai (30–79%) |
| Reduced forced expiratory volume in one second | Dažnai (30–79%) |
| Coughing up blood | Kartais (5–29%) |
| Reduced forced vital capacity | Kartais (5–29%) |
| Collapsed lung | Retai (1–4 %) |
| Chronic lung disease | Neužfiksuota |
| Hyperpolarized transepithelial nasal potential difference | Neužfiksuota |
Abnormality of blood and blood-forming tissues
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Elevated white blood count | Dažnai (30–79%) |
| Hypochromic anemia | Dažnai (30–79%) |
| Increased number of platelets in blood | Dažnai (30–79%) |
| Decreased blood leukocyte number | Kartais (5–29%) |
| Low number of red blood cells or hemoglobin | Kartais (5–29%) |
| Bone marrow failure | Neužfiksuota |
Laboratory abnormality
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Elevated sweat chloride | Visada |
| Elevated circulating aldolase concentration | Labai dažnai (80–99%) |
| Dehydration | Kartais (5–29%) |
| High ESR | Kartais (5–29%) |
| High liver enzymes | Kartais (5–29%) |
| Elevated urine calcium levels | Neužfiksuota |
Abnormality of the eye
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Bulging eye | Dažnai (30–79%) |
| Glaucoma | Kartais (5–29%) |
| Optic atrophy | Kartais (5–29%) |
| Optic nerve compression | Kartais (5–29%) |
| Double vision | Neužfiksuota |
Abnormal cellular phenotype
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Increased circulating IgE concentration | Dažnai (30–79%) |
| Increased circulating IgG concentration | Dažnai (30–79%) |
| Abnormal T cell proliferation | Neužfiksuota |
| Decreased T cell activation | Neužfiksuota |
Abnormality of the cardiovascular system
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Cor pulmonale | Kartais (5–29%) |
| Enlarged and thickened heart muscle | Kartais (5–29%) |
| Increased spleen size | Kartais (5–29%) |
| Enlarged liver and spleen | Retai (1–4 %) |
Abnormality of the genitourinary system
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Absent vas deferens | Labai dažnai (80–99%) |
| Male infertility | Dažnai (30–79%) |
| Urinary retention | Kartais (5–29%) |
| Kidney stone | Retai (1–4 %) |
Growth abnormality
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Wasting syndrome | Labai dažnai (80–99%) |
| Faltering weight | Dažnai (30–79%) |
| Decreased body mass index | Kartais (5–29%) |
| Slender build | Kartais (5–29%) |
Abnormality of the integument
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Salty tasting skin | Dažnai (30–79%) |
| Abnormal fat tissue distribution below the skin | Kartais (5–29%) |
| Reduced fat tissue below the skin | Neužfiksuota |
Abnormality of the endocrine system
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Decreased activity of gonads | Kartais (5–29%) |
| Delayed puberty | Kartais (5–29%) |
Abnormality of the ear
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Hearing impairment | Kartais (5–29%) |
Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.
Iš kur tai žinoma
- Žmogaus fenotipo ontologija, 2026-09-01 leidimas: su TGFB1 susiję požymiai ir kaip dažnai kiekvienas pasitaiko. Daugiau informacijos rasite adresu hpo.jax.org.
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