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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.
AtlasCui ne adresămȘtiința noastrăProduseRezultate
ConectareÎntrebațiSecvențiați-vă genomul↗
AtlasCui ne adresămȘtiința noastrăProduseRezultate
ConectareÎntrebațiSecvențiați-vă genomul↗
Abnormality of the nervous system
Abnormality of the genitourinary system
| Trait | Cât de frecvent apare |
|---|---|
| Absence of renal corticomedullary differentiation | Întotdeauna |
| Abnormality of the kidney | Foarte des (80–99%) |
| Abnormal morphology of female internal genitalia | Des (30–79%) |
| Chronic kidney disease | Des (30–79%) |
| Cystic kidney disease | Des (30–79%) |
| Renal angiomyolipoma | Des (30–79%) |
| Kidney cancer | Uneori (5–29%) |
| Multiple kidney cysts | Uneori (5–29%) |
| Renal failure | Uneori (5–29%) |
| Cancer starting in small tubes in kidneys | Rar (1–4%) |
| Polycystic kidney dysplasia | Rar (1–4%) |
| Stage 5 chronic kidney disease | Rar (1–4%) |
Abnormality of the integument
| Trait | Cât de frecvent apare |
|---|---|
| Generalized abnormality of skin | Foarte des (80–99%) |
| Hypomelanotic macule | Foarte des (80–99%) |
| Confetti-like hypopigmented macules | Des (30–79%) |
| Shagreen patch | Des (30–79%) |
| Skin plaque | Des (30–79%) |
| Ungual fibroma | Des (30–79%) |
| Abnormal skin pigmentation | Uneori (5–29%) |
| Epidermoid cyst | Uneori (5–29%) |
| Flat, discolored area of skin | Uneori (5–29%) |
| Subungual fibromas | Uneori (5–29%) |
| Birthmark | Neînregistrat |
| Firm lump under the skin | Neînregistrat |
Abnormality of the respiratory system
| Trait | Cât de frecvent apare |
|---|---|
| Breathing difficulty | Foarte des (80–99%) |
| Cough | Foarte des (80–99%) |
| Lung infiltrates | Foarte des (80–99%) |
| Stiff lung or chest wall causing decreased lung volume | Foarte des (80–99%) |
| Collapsed lung | Des (30–79%) |
| Emphysema | Des (30–79%) |
| Partial or complete collapse of part or entire lung | Des (30–79%) |
| Breathing difficulties | Uneori (5–29%) |
| Coughing up blood | Uneori (5–29%) |
| Respiratory tract infection | Uneori (5–29%) |
| Respiratory failure | Rar (1–4%) |
Abnormality of the cardiovascular system
| Trait | Cât de frecvent apare |
|---|---|
| Abnormality of the lymphatic system | Foarte des (80–99%) |
| Cardiac rhabdomyoma | Des (30–79%) |
| Pulmonary lymphangiomyomatosis | Des (30–79%) |
| Slow heartbeats | Des (30–79%) |
| Swollen lymph nodes | Des (30–79%) |
| Chylopericardium | Uneori (5–29%) |
| High blood pressure | Uneori (5–29%) |
| Bulge in wall of large artery that carries blood away from heart | Rar (1–4%) |
| Wolff-Parkinson-White syndrome | Neînregistrat |
Abnormality of the endocrine system
| Trait | Cât de frecvent apare |
|---|---|
| Carcinoid tumor | Rar (1–4%) |
| Enlarged parathyroid glands | Rar (1–4%) |
| Noncancerous tumor in pituitary gland | Rar (1–4%) |
| Pancreatic endocrine tumor | Rar (1–4%) |
| Parathyroid adenoma | Rar (1–4%) |
| Pheochromocytoma | Rar (1–4%) |
| Early onset of puberty | Neînregistrat |
| Underactive thyroid | Neînregistrat |
Abnormality of head or neck
| Trait | Cât de frecvent apare |
|---|---|
| Adenoma sebaceum | Întotdeauna |
| Dental enamel pits | Întotdeauna |
| Gingival fibromatosis | Întotdeauna |
| Retinal hamartoma | Des (30–79%) |
| Retinal astrocytic hamartoma | Rar (1–4%) |
Laboratory abnormality
| Trait | Cât de frecvent apare |
|---|---|
| Blood in urine | Des (30–79%) |
| Chylothorax | Des (30–79%) |
| Abnormal urinary color | Uneori (5–29%) |
| Fever | Uneori (5–29%) |
| Swelling caused by excess lymph fluid under skin | Uneori (5–29%) |
Abnormality of the digestive system
| Trait | Cât de frecvent apare |
|---|---|
| Abdominal pain | Des (30–79%) |
| Accumulation of fluid in the abdomen | Uneori (5–29%) |
| Liver cysts | Uneori (5–29%) |
Abnormality of the eye
| Trait | Cât de frecvent apare |
|---|---|
| Chorioretinal hypopigmentation | Des (30–79%) |
| Optic atrophy | Uneori (5–29%) |
| Achromatic retinal patches | Neînregistrat |
Abnormality of blood and blood-forming tissues
| Trait | Cât de frecvent apare |
|---|---|
| Gastrointestinal bleeding | Uneori (5–29%) |
| Internal bleeding | Rar (1–4%) |
Abnormality of the musculoskeletal system
| Trait | Cât de frecvent apare |
|---|---|
| Abnormal deposits of calcium in the brain | Neînregistrat |
| Chordoma | Neînregistrat |
Constitutional symptom
| Trait | Cât de frecvent apare |
|---|---|
| Chest pain | Foarte des (80–99%) |
| Fatigue | Uneori (5–29%) |
Abnormal tissue mass
| Trait | Cât de frecvent apare |
|---|---|
| Angiofibromas | Des (30–79%) |
Abnormality of the ear
| Trait | Cât de frecvent apare |
|---|---|
| Hearing impairment | Întotdeauna |
Abnormality of the immune system
| Trait | Cât de frecvent apare |
|---|---|
| Recurrent respiratory infections | 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
- 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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