Traits

Traits linked to TSC1

TSC complex subunit 1

The Human Phenotype Ontology links 114 traits to TSC1, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

Trait	How often it is seen
Autism spectrum disorder	Very often (80–99%)
Behavioral abnormality	Very often (80–99%)
Cortical dysplasia	Very often (80–99%)
Cortical tubers	Very often (80–99%)
Epilepsy	Very often (80–99%)
Subependymal nodules	Very often (80–99%)
Abnormal social behavior	Often (30–79%)
Aggressive behavior	Often (30–79%)
Autism	Often (30–79%)
Depression	Often (30–79%)
Difficulty sleeping	Often (30–79%)
Epileptic spasm	Often (30–79%)
Impulsivity	Often (30–79%)
Infantile spasms	Often (30–79%)
Intellectual disability	Often (30–79%)
More active than typical	Often (30–79%)
Neurodevelopmental delay	Often (30–79%)
Repeated seizures without recovery between them	Often (30–79%)
Repetitive compulsive behavior	Often (30–79%)
Seizure affecting one half of brain	Often (30–79%)
Self-injurious behavior	Often (30–79%)
Specific learning disability	Often (30–79%)
Anxiety	Sometimes (5–29%)
Attention deficit	Sometimes (5–29%)
Cognitive impairment	Sometimes (5–29%)
Noncommunicating hydrocephalus	Sometimes (5–29%)
Poor speech	Sometimes (5–29%)
Subependymal giant-cell astrocytoma	Sometimes (5–29%)
Too much cerebrospinal fluid in the brain	Sometimes (5–29%)
Astrocytoma	Not recorded
Astrocytosis	Not recorded
Ependymoma	Not recorded
Focal cortical dysplasia type II	Not recorded
Focal impaired awareness seizure	Not recorded
Focal white matter lesions	Not recorded
Hemimegalencephaly	Not recorded
Optic nerve glioma	Not recorded
Weakness of one side of body	Not recorded

Abnormality of the integument

Trait	How often it is seen
Generalized abnormality of skin	Very often (80–99%)
Hypomelanotic macule	Very often (80–99%)
Confetti-like hypopigmented macules	Often (30–79%)
Shagreen patch	Often (30–79%)
Skin plaque	Often (30–79%)
Ungual fibroma	Often (30–79%)
Abnormal skin pigmentation	Sometimes (5–29%)
Epidermoid cyst	Sometimes (5–29%)
Flat, discolored area of skin	Sometimes (5–29%)
Birthmark	Not recorded
Firm lump under the skin	Not recorded
Subungual fibromas	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Abnormality of the kidney	Very often (80–99%)
Renal angiomyolipoma	Very often (80–99%)
Abnormal morphology of female internal genitalia	Often (30–79%)
Chronic kidney disease	Often (30–79%)
Cystic kidney disease	Often (30–79%)
Kidney cancer	Sometimes (5–29%)
Multiple kidney cysts	Sometimes (5–29%)
Renal failure	Sometimes (5–29%)
Cancer starting in small tubes in kidneys	Rarely (1–4%)
Polycystic kidney dysplasia	Rarely (1–4%)
Stage 5 chronic kidney disease	Rarely (1–4%)

Abnormality of the respiratory system

Trait	How often it is seen
Breathing difficulty	Very often (80–99%)
Cough	Very often (80–99%)
Lung infiltrates	Very often (80–99%)
Stiff lung or chest wall causing decreased lung volume	Very often (80–99%)
Collapsed lung	Often (30–79%)
Emphysema	Often (30–79%)
Partial or complete collapse of part or entire lung	Often (30–79%)
Breathing difficulties	Sometimes (5–29%)
Coughing up blood	Sometimes (5–29%)
Respiratory tract infection	Sometimes (5–29%)
Respiratory failure	Rarely (1–4%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Abnormality of the lymphatic system	Very often (80–99%)
Cardiac rhabdomyoma	Often (30–79%)
Pulmonary lymphangiomyomatosis	Often (30–79%)
Swollen lymph nodes	Often (30–79%)
Chylopericardium	Sometimes (5–29%)
High blood pressure	Sometimes (5–29%)
Bulge in wall of large artery that carries blood away from heart	Rarely (1–4%)
Wolff-Parkinson-White syndrome	Not recorded

Abnormality of the endocrine system

Trait	How often it is seen
Carcinoid tumor	Rarely (1–4%)
Enlarged parathyroid glands	Rarely (1–4%)
Noncancerous tumor in pituitary gland	Rarely (1–4%)
Pancreatic endocrine tumor	Rarely (1–4%)
Parathyroid adenoma	Rarely (1–4%)
Pheochromocytoma	Rarely (1–4%)
Early onset of puberty	Not recorded
Underactive thyroid	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Retinal hamartoma	Often (30–79%)
Retinal astrocytic hamartoma	Rarely (1–4%)
Adenoma sebaceum	Not recorded
Dental enamel pits	Not recorded
Gingival fibromatosis	Not recorded
Hair growing down to cheek	Not recorded

Laboratory abnormality

Trait	How often it is seen
Blood in urine	Often (30–79%)
Chylothorax	Often (30–79%)
Abnormal urinary color	Sometimes (5–29%)
Fever	Sometimes (5–29%)
Swelling caused by excess lymph fluid under skin	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Abdominal pain	Often (30–79%)
Accumulation of fluid in the abdomen	Sometimes (5–29%)
Liver cysts	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Chorioretinal hypopigmentation	Often (30–79%)
Optic atrophy	Sometimes (5–29%)
Achromatic retinal patches	Not recorded

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Gastrointestinal bleeding	Sometimes (5–29%)
Internal bleeding	Rarely (1–4%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Abnormal deposits of calcium in the brain	Not recorded
Chordoma	Not recorded

Constitutional symptom

Trait	How often it is seen
Chest pain	Very often (80–99%)
Fatigue	Sometimes (5–29%)

Abnormal cellular phenotype

Trait	How often it is seen
Premature chromatid separation	Not recorded

Abnormal tissue mass

Trait	How often it is seen
Angiofibromas	Very often (80–99%)

Abnormality of the immune system

Trait	How often it is seen
Recurrent respiratory infections	Sometimes (5–29%)

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Where this comes from

The Human Phenotype Ontology, release 2026-09-01: the traits linked to TSC1 and how often each is seen. Find out more at hpo.jax.org.

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