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.

Abnormality of the nervous system

Trait	나타나는 빈도
Behavioral abnormality	매우 자주 (80–99%)
Cortical dysplasia	매우 자주 (80–99%)
Cortical tubers	매우 자주 (80–99%)
Epilepsy	매우 자주 (80–99%)
Subependymal nodules	매우 자주 (80–99%)
Abnormal social behavior	자주 (30–79%)
Aggressive behavior	자주 (30–79%)
Autism	자주 (30–79%)
Autism spectrum disorder	자주 (30–79%)
Depression	자주 (30–79%)
Difficulty sleeping	자주 (30–79%)
Epileptic spasm	자주 (30–79%)
Impulsivity	자주 (30–79%)
Infantile spasms	자주 (30–79%)
Intellectual disability	자주 (30–79%)
More active than typical	자주 (30–79%)
Neurodevelopmental delay	자주 (30–79%)
Repeated seizures without recovery between them	자주 (30–79%)
Repetitive compulsive behavior	자주 (30–79%)
Seizure affecting one half of brain	자주 (30–79%)
Self-injurious behavior	자주 (30–79%)
Specific learning disability	자주 (30–79%)
Anxiety	가끔 (5–29%)
Attention deficit	가끔 (5–29%)
Cognitive impairment	가끔 (5–29%)
Noncommunicating hydrocephalus	가끔 (5–29%)
Poor speech	가끔 (5–29%)
Subependymal giant-cell astrocytoma	가끔 (5–29%)
Too much cerebrospinal fluid in the brain	가끔 (5–29%)
Astrocytoma	기록되지 않음
Astrocytosis	기록되지 않음
Ependymoma	기록되지 않음
Focal cortical dysplasia type II	기록되지 않음
Focal impaired awareness seizure	기록되지 않음
Focal white matter lesions	기록되지 않음
Hemimegalencephaly	기록되지 않음
Optic nerve glioma	기록되지 않음
Weakness of one side of body	기록되지 않음

Abnormality of the genitourinary system

Trait	나타나는 빈도
Absence of renal corticomedullary differentiation	항상
Abnormality of the kidney	매우 자주 (80–99%)
Abnormal morphology of female internal genitalia	자주 (30–79%)
Chronic kidney disease	자주 (30–79%)
Cystic kidney disease	자주 (30–79%)
Renal angiomyolipoma	자주 (30–79%)
Kidney cancer	가끔 (5–29%)
Multiple kidney cysts	가끔 (5–29%)
Renal failure	가끔 (5–29%)
Cancer starting in small tubes in kidneys	드물게 (1–4%)
Polycystic kidney dysplasia	드물게 (1–4%)
Stage 5 chronic kidney disease	드물게 (1–4%)

Abnormality of the integument

Trait	나타나는 빈도
Generalized abnormality of skin	매우 자주 (80–99%)
Hypomelanotic macule	매우 자주 (80–99%)
Confetti-like hypopigmented macules	자주 (30–79%)
Shagreen patch	자주 (30–79%)
Skin plaque	자주 (30–79%)
Ungual fibroma	자주 (30–79%)
Abnormal skin pigmentation	가끔 (5–29%)
Epidermoid cyst	가끔 (5–29%)
Flat, discolored area of skin	가끔 (5–29%)
Subungual fibromas	가끔 (5–29%)
Birthmark	기록되지 않음
Firm lump under the skin	기록되지 않음

Abnormality of the respiratory system

Trait	나타나는 빈도
Breathing difficulty	매우 자주 (80–99%)
Cough	매우 자주 (80–99%)
Lung infiltrates	매우 자주 (80–99%)
Stiff lung or chest wall causing decreased lung volume	매우 자주 (80–99%)
Collapsed lung	자주 (30–79%)
Emphysema	자주 (30–79%)
Partial or complete collapse of part or entire lung	자주 (30–79%)
Breathing difficulties	가끔 (5–29%)
Coughing up blood	가끔 (5–29%)
Respiratory tract infection	가끔 (5–29%)
Respiratory failure	드물게 (1–4%)

Abnormality of the cardiovascular system

Trait	나타나는 빈도
Abnormality of the lymphatic system	매우 자주 (80–99%)
Cardiac rhabdomyoma	자주 (30–79%)
Pulmonary lymphangiomyomatosis	자주 (30–79%)
Slow heartbeats	자주 (30–79%)
Swollen lymph nodes	자주 (30–79%)
Chylopericardium	가끔 (5–29%)
High blood pressure	가끔 (5–29%)
Bulge in wall of large artery that carries blood away from heart	드물게 (1–4%)
Wolff-Parkinson-White syndrome	기록되지 않음

Abnormality of the endocrine system

Trait	나타나는 빈도
Carcinoid tumor	드물게 (1–4%)
Enlarged parathyroid glands	드물게 (1–4%)
Noncancerous tumor in pituitary gland	드물게 (1–4%)
Pancreatic endocrine tumor	드물게 (1–4%)
Parathyroid adenoma	드물게 (1–4%)
Pheochromocytoma	드물게 (1–4%)
Early onset of puberty	기록되지 않음
Underactive thyroid	기록되지 않음

Abnormality of head or neck

Trait	나타나는 빈도
Adenoma sebaceum	항상
Dental enamel pits	항상
Gingival fibromatosis	항상
Retinal hamartoma	자주 (30–79%)
Retinal astrocytic hamartoma	드물게 (1–4%)

Laboratory abnormality

Trait	나타나는 빈도
Blood in urine	자주 (30–79%)
Chylothorax	자주 (30–79%)
Abnormal urinary color	가끔 (5–29%)
Fever	가끔 (5–29%)
Swelling caused by excess lymph fluid under skin	가끔 (5–29%)

Abnormality of the digestive system

Trait	나타나는 빈도
Abdominal pain	자주 (30–79%)
Accumulation of fluid in the abdomen	가끔 (5–29%)
Liver cysts	가끔 (5–29%)

Abnormality of the eye

Trait	나타나는 빈도
Chorioretinal hypopigmentation	자주 (30–79%)
Optic atrophy	가끔 (5–29%)
Achromatic retinal patches	기록되지 않음

Abnormality of blood and blood-forming tissues

Trait	나타나는 빈도
Gastrointestinal bleeding	가끔 (5–29%)
Internal bleeding	드물게 (1–4%)

Abnormality of the musculoskeletal system

Trait	나타나는 빈도
Abnormal deposits of calcium in the brain	기록되지 않음
Chordoma	기록되지 않음

Constitutional symptom

Trait	나타나는 빈도
Chest pain	매우 자주 (80–99%)
Fatigue	가끔 (5–29%)

Abnormal tissue mass

Trait	나타나는 빈도
Angiofibromas	자주 (30–79%)

Abnormality of the ear

Trait	나타나는 빈도
Hearing impairment	항상

Abnormality of the immune system

Trait	나타나는 빈도
Recurrent respiratory infections	가끔 (5–29%)

Human Phenotype Ontology가 기록한, 해당 유전자와 관련된 질환을 가진 사람들 가운데 이 특징이 나타나는 빈도입니다. 이 페이지는 특징과 그 바탕이 되는 연구를 설명하며, 진단이 아닙니다. 증상에 대해서는 의사나 유전 상담사에게 문의하시기 바랍니다.

출처

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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