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

Abnormality of the genitourinary system

Trait	Kui sageli seda täheldatakse
Absence of renal corticomedullary differentiation	Alati
Abnormality of the kidney	Väga sageli (80–99%)
Abnormal morphology of female internal genitalia	Sageli (30–79%)
Chronic kidney disease	Sageli (30–79%)
Cystic kidney disease	Sageli (30–79%)
Renal angiomyolipoma	Sageli (30–79%)
Kidney cancer	Mõnikord (5–29%)
Multiple kidney cysts	Mõnikord (5–29%)
Renal failure	Mõnikord (5–29%)
Cancer starting in small tubes in kidneys	Harva (1–4%)
Polycystic kidney dysplasia	Harva (1–4%)
Stage 5 chronic kidney disease	Harva (1–4%)

Abnormality of the integument

Trait	Kui sageli seda täheldatakse
Generalized abnormality of skin	Väga sageli (80–99%)
Hypomelanotic macule	Väga sageli (80–99%)
Confetti-like hypopigmented macules	Sageli (30–79%)
Shagreen patch	Sageli (30–79%)
Skin plaque	Sageli (30–79%)
Ungual fibroma	Sageli (30–79%)
Abnormal skin pigmentation	Mõnikord (5–29%)
Epidermoid cyst	Mõnikord (5–29%)
Flat, discolored area of skin	Mõnikord (5–29%)
Subungual fibromas	Mõnikord (5–29%)
Birthmark	Pole registreeritud
Firm lump under the skin	Pole registreeritud

Abnormality of the respiratory system

Trait	Kui sageli seda täheldatakse
Breathing difficulty	Väga sageli (80–99%)
Cough	Väga sageli (80–99%)
Lung infiltrates	Väga sageli (80–99%)
Stiff lung or chest wall causing decreased lung volume	Väga sageli (80–99%)
Collapsed lung	Sageli (30–79%)
Emphysema	Sageli (30–79%)
Partial or complete collapse of part or entire lung	Sageli (30–79%)
Breathing difficulties	Mõnikord (5–29%)
Coughing up blood	Mõnikord (5–29%)
Respiratory tract infection	Mõnikord (5–29%)
Respiratory failure	Harva (1–4%)

Abnormality of the cardiovascular system

Trait	Kui sageli seda täheldatakse
Abnormality of the lymphatic system	Väga sageli (80–99%)
Cardiac rhabdomyoma	Sageli (30–79%)
Pulmonary lymphangiomyomatosis	Sageli (30–79%)
Slow heartbeats	Sageli (30–79%)
Swollen lymph nodes	Sageli (30–79%)
Chylopericardium	Mõnikord (5–29%)
High blood pressure	Mõnikord (5–29%)
Bulge in wall of large artery that carries blood away from heart	Harva (1–4%)
Wolff-Parkinson-White syndrome	Pole registreeritud

Abnormality of the endocrine system

Trait	Kui sageli seda täheldatakse
Carcinoid tumor	Harva (1–4%)
Enlarged parathyroid glands	Harva (1–4%)
Noncancerous tumor in pituitary gland	Harva (1–4%)
Pancreatic endocrine tumor	Harva (1–4%)
Parathyroid adenoma	Harva (1–4%)
Pheochromocytoma	Harva (1–4%)
Early onset of puberty	Pole registreeritud
Underactive thyroid	Pole registreeritud

Abnormality of head or neck

Trait	Kui sageli seda täheldatakse
Adenoma sebaceum	Alati
Dental enamel pits	Alati
Gingival fibromatosis	Alati
Retinal hamartoma	Sageli (30–79%)
Retinal astrocytic hamartoma	Harva (1–4%)

Laboratory abnormality

Trait	Kui sageli seda täheldatakse
Blood in urine	Sageli (30–79%)
Chylothorax	Sageli (30–79%)
Abnormal urinary color	Mõnikord (5–29%)
Fever	Mõnikord (5–29%)
Swelling caused by excess lymph fluid under skin	Mõnikord (5–29%)

Abnormality of the digestive system

Trait	Kui sageli seda täheldatakse
Abdominal pain	Sageli (30–79%)
Accumulation of fluid in the abdomen	Mõnikord (5–29%)
Liver cysts	Mõnikord (5–29%)

Abnormality of the eye

Trait	Kui sageli seda täheldatakse
Chorioretinal hypopigmentation	Sageli (30–79%)
Optic atrophy	Mõnikord (5–29%)
Achromatic retinal patches	Pole registreeritud

Abnormality of blood and blood-forming tissues

Trait	Kui sageli seda täheldatakse
Gastrointestinal bleeding	Mõnikord (5–29%)
Internal bleeding	Harva (1–4%)

Abnormality of the musculoskeletal system

Trait	Kui sageli seda täheldatakse
Abnormal deposits of calcium in the brain	Pole registreeritud
Chordoma	Pole registreeritud

Constitutional symptom

Trait	Kui sageli seda täheldatakse
Chest pain	Väga sageli (80–99%)
Fatigue	Mõnikord (5–29%)

Abnormal tissue mass

Trait	Kui sageli seda täheldatakse
Angiofibromas	Sageli (30–79%)

Abnormality of the ear

Trait	Kui sageli seda täheldatakse
Hearing impairment	Alati

Abnormality of the immune system

Trait	Kui sageli seda täheldatakse
Recurrent respiratory infections	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

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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