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PrisijungtiKlaustiSekvenuokite savo genomą↗
Traits
Traits linked to TSC2
TSC complex subunit 2
The Human Phenotype Ontology links 115 traits to TSC2, by body system: features seen in people with one of the gene's rare conditions.
AtlasKam padedameMūsų mokslasProduktaiRezultatai
PrisijungtiKlaustiSekvenuokite savo genomą↗
AtlasKam padedameMūsų mokslasProduktaiRezultatai
PrisijungtiKlaustiSekvenuokite savo genomą↗
Abnormality of the nervous system
Abnormality of the genitourinary system
| Trait | Kaip dažnai pasireiškia |
|---|---|
| Absence of renal corticomedullary differentiation | Visada |
| Abnormality of the kidney | Labai dažnai (80–99%) |
| Abnormal morphology of female internal genitalia | Dažnai (30–79%) |
| Chronic kidney disease | Dažnai (30–79%) |
| Cystic kidney disease | Dažnai (30–79%) |
| Renal angiomyolipoma | Dažnai (30–79%) |
| Kidney cancer | Kartais (5–29%) |
| Multiple kidney cysts | Kartais (5–29%) |
| Renal failure | Kartais (5–29%) |
| Cancer starting in small tubes in kidneys | Retai (1–4 %) |
| Polycystic kidney dysplasia | Retai (1–4 %) |
| Stage 5 chronic kidney disease | Retai (1–4 %) |
Abnormality of the integument
| Trait | Kaip dažnai pasireiškia |
|---|---|
| Generalized abnormality of skin | Labai dažnai (80–99%) |
| Hypomelanotic macule | Labai dažnai (80–99%) |
| Confetti-like hypopigmented macules | Dažnai (30–79%) |
| Shagreen patch | Dažnai (30–79%) |
| Skin plaque | Dažnai (30–79%) |
| Ungual fibroma | Dažnai (30–79%) |
| Abnormal skin pigmentation | Kartais (5–29%) |
| Epidermoid cyst | Kartais (5–29%) |
| Flat, discolored area of skin | Kartais (5–29%) |
| Subungual fibromas | Kartais (5–29%) |
| Birthmark | Neužfiksuota |
| Firm lump under the skin | Neužfiksuota |
Abnormality of the respiratory system
| Trait | Kaip dažnai pasireiškia |
|---|---|
| Breathing difficulty | Labai dažnai (80–99%) |
| Cough | Labai dažnai (80–99%) |
| Lung infiltrates | Labai dažnai (80–99%) |
| Stiff lung or chest wall causing decreased lung volume | Labai dažnai (80–99%) |
| Collapsed lung | Dažnai (30–79%) |
| Emphysema | Dažnai (30–79%) |
| Partial or complete collapse of part or entire lung | Dažnai (30–79%) |
| Breathing difficulties | Kartais (5–29%) |
| Coughing up blood | Kartais (5–29%) |
| Respiratory tract infection | Kartais (5–29%) |
| Respiratory failure | Retai (1–4 %) |
Abnormality of the cardiovascular system
| Trait | Kaip dažnai pasireiškia |
|---|---|
| Abnormality of the lymphatic system | Labai dažnai (80–99%) |
| Cardiac rhabdomyoma | Dažnai (30–79%) |
| Pulmonary lymphangiomyomatosis | Dažnai (30–79%) |
| Slow heartbeats | Dažnai (30–79%) |
| Swollen lymph nodes | Dažnai (30–79%) |
| Chylopericardium | Kartais (5–29%) |
| High blood pressure | Kartais (5–29%) |
| Bulge in wall of large artery that carries blood away from heart | Retai (1–4 %) |
| Wolff-Parkinson-White syndrome | Neužfiksuota |
Abnormality of the endocrine system
| Trait | Kaip dažnai pasireiškia |
|---|---|
| Carcinoid tumor | Retai (1–4 %) |
| Enlarged parathyroid glands | Retai (1–4 %) |
| Noncancerous tumor in pituitary gland | Retai (1–4 %) |
| Pancreatic endocrine tumor | Retai (1–4 %) |
| Parathyroid adenoma | Retai (1–4 %) |
| Pheochromocytoma | Retai (1–4 %) |
| Early onset of puberty | Neužfiksuota |
| Underactive thyroid | Neužfiksuota |
Abnormality of head or neck
| Trait | Kaip dažnai pasireiškia |
|---|---|
| Adenoma sebaceum | Visada |
| Dental enamel pits | Visada |
| Gingival fibromatosis | Visada |
| Retinal hamartoma | Dažnai (30–79%) |
| Retinal astrocytic hamartoma | Retai (1–4 %) |
Laboratory abnormality
| Trait | Kaip dažnai pasireiškia |
|---|---|
| Blood in urine | Dažnai (30–79%) |
| Chylothorax | Dažnai (30–79%) |
| Abnormal urinary color | Kartais (5–29%) |
| Fever | Kartais (5–29%) |
| Swelling caused by excess lymph fluid under skin | Kartais (5–29%) |
Abnormality of the digestive system
| Trait | Kaip dažnai pasireiškia |
|---|---|
| Abdominal pain | Dažnai (30–79%) |
| Accumulation of fluid in the abdomen | Kartais (5–29%) |
| Liver cysts | Kartais (5–29%) |
Abnormality of the eye
| Trait | Kaip dažnai pasireiškia |
|---|---|
| Chorioretinal hypopigmentation | Dažnai (30–79%) |
| Optic atrophy | Kartais (5–29%) |
| Achromatic retinal patches | Neužfiksuota |
Abnormality of blood and blood-forming tissues
| Trait | Kaip dažnai pasireiškia |
|---|---|
| Gastrointestinal bleeding | Kartais (5–29%) |
| Internal bleeding | Retai (1–4 %) |
Abnormality of the musculoskeletal system
| Trait | Kaip dažnai pasireiškia |
|---|---|
| Abnormal deposits of calcium in the brain | Neužfiksuota |
| Chordoma | Neužfiksuota |
Constitutional symptom
| Trait | Kaip dažnai pasireiškia |
|---|---|
| Chest pain | Labai dažnai (80–99%) |
| Fatigue | Kartais (5–29%) |
Abnormal tissue mass
| Trait | Kaip dažnai pasireiškia |
|---|---|
| Angiofibromas | Dažnai (30–79%) |
Abnormality of the ear
| Trait | Kaip dažnai pasireiškia |
|---|---|
| Hearing impairment | Visada |
Abnormality of the immune system
| Trait | Kaip dažnai pasireiškia |
|---|---|
| Recurrent respiratory infections | 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
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to TSC2 and how often each is seen. Find out more at hpo.jax.org.
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