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Tuberous sclerosis
2 OMIM references -
2 associated genes
57 connected diseases
44 signs/symptoms
Disease Type of connection
Lymphangioleiomyomatosis
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
Isolated focal cortical dysplasia type IIb
Cowden syndrome
Proteus syndrome
17p13.3 microduplication syndrome
Distal 17p13.3 microdeletion syndrome
Miller-Dieker syndrome
Isolated megalencephaly
Multiple endocrine neoplasia type 1
Multiple endocrine neoplasia type 4
Estrogen resistance syndrome
Familial thoracic aortic aneurysm and aortic dissection
Angelman syndrome
Distal 22q11.2 microdeletion syndrome
Autosomal dominant Charcot-Marie-Tooth disease type 2E
Charcot-Marie-Tooth disease type 1F
Severe early-onset axonal neuropathy due to NEFL deficiency
Alveolar rhabdomyosarcoma
Catecholaminergic polymorphic ventricular tachycardia
B-cell chronic lymphocytic leukemia
Mantle cell lymphoma
Multiple myeloma
Aneurysm - osteoarthritis syndrome
Autosomal recessive nonsyndromic sensorineural deafness type DFNB
Alpha-thalassemia - intellectual deficit syndrome linked to chromosome 16
Autosomal dominant methemoglobinemia
Baraitser-Winter syndrome
Bardet-Biedl syndrome
Capillary malformation - arteriovenous malformation
Developmental malformations - deafness - dystonia
FTH1-related iron overload
Hb Bart's hydrops fetalis
Hemoglobin H disease
Moyamoya disease
Parkes Weber syndrome
Senior-Loken syndrome
Short rib-polydactyly syndrome, Majewski type
Spinocerebellar ataxia type 1
Translocation renal cell carcinoma
Berardinelli-Seip congenital lipodystrophy
Childhood-onset nemaline myopathy
Congenital fiber-type disproportion myopathy
Congenital myopathy with excess of thin filaments
Diffuse cutaneous systemic sclerosis
Hemimegalencephaly
Heritable pulmonary arterial hypertension
Intermediate nemaline myopathy
Limited cutaneous systemic sclerosis
Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus
Severe congenital nemaline myopathy
Typical nemaline myopathy
Familial partial lipodystrophy due to AKT2 mutations
Hypoinsulinemic hypoglycemia and body hemihypertrophy
Neurofibromatosis type 2
Neurofibromatosis type 3
Pulverulent cataract
Synonym(s):
- Bourneville syndrome
- Tuberous sclerosis complex
Classification (Orphanet):
- Rare circulatory system disease
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
- Rare oncologic disease
- Rare renal disease
- Rare skin disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant
External references:
2 OMIM references -
1 MeSH reference: D014402
Gene symbol UniProt reference OMIM reference
TSC1 Q92574605284
TSC2 P49815191092
Very frequent
- Adenoma sebaceum
- Autosomal dominant inheritance
- Central nervous system / peripheral nerves neoplasm / tumor / carcinoma / cancer
- Cutaneous neurofibromas / facial angiofibromas / Koenen tumors
- EEG anomalies
- Follicular / erythematous / edematous papules / milium
- Pedunculated skin lesions
- Prominent occiput / occipital bossing

Frequent
- Cafe-au-lait spot
- Capillary hemangioma / nevus / naevus flammeus / port-wine stain
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Irregular / patchy skin hypopigmentation
- Macules
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Psychic / behavioural troubles
- Retinal hamartoma
- Seizures / epilepsy / absences / spasms / status epilepticus
- Subcutaneous nodules / lipomas / tumefaction / swelling
- Ungual / paraungual fibromas (fingernails)
- Ungual / parungual fibromas (toenails)

Occasional
- Abnormal pleura / hydrothorax / pleuresia / pleural effusion / chylothorax
- Arterial aneurism (excluding aorta)
- Cardiac rhythm disorder / arrhythmia
- Coloboma of iris
- Corpus callosum / septum pellucidum total / partial agenesis
- Cranial hypertension
- Emphysema
- Enamel anomaly
- Gingivitis
- Heart / cardiac failure
- Heart / cardiac tumor
- Hypothyroidy
- Intracranial / cerebral calcifications
- Kidney / renal neoplasm / tumor / carcinoma / cancer
- Lymphangioma / lymphatic malformations
- Macrodactyly / fingers hypertrophy / megalodactyly (hand)
- Polycystic kidneys
- Precocious puberty
- Renal failure
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Structural anomalies of the liver and the biliary tract
- Structural anomalies of the pancreas
- Structural anomalies of the respiratory system and diaphragm
- Visceral angiomatosis (excluding skin)