ORPHA:805
Tuberous sclerosis complex
Synonyms: Bourneville syndrome · Tuberous sclerosis
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- All ages
- Status
- active
A rare neurocutaneous disorder characterized by multisystem hamartomas, most commonly involving the skin, brain, kidneys, lungs, eye, and heart, and associated with neuropsychiatric disorders.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Tuberous sclerosis complex | Bourneville syndrome · Tuberous sclerosis |
| fr | Sclérose tubéreuse de Bourneville | STB · Sclérose tubéreuse · Syndrome de Bourneville |
| de | Tuberöse Sklerose Komplex | Bourneville-Syndrom · Tuberöse Sklerose |
| es | Complejo esclerosis tuberosa | Esclerosis tuberosa · Síndrome de Bourneville |
| it | Complesso della sclerosi tuberosa | Sclerosi tuberosa · Sindrome di Bourneville |
| nl | Tubereuze sclerose complex | Syndroom van Bourneville · Tubereuze sclerose |
| pt | Complexo esclerose tuberosa | Síndrome Bourneville |
| pl | Zespół stwardnienia guzowatego | Stwardnienie guzowate · Zespół Bourneville'a |
| cs | Komplex tuberózní sklerózy | Tuberózní skleróza · Bournevillův syndrom |
| uk | Комплекс туберозного склерозу | Синдром Борневіля · Туберозний склероз |
| zh | 复合型结节性硬化病 | Bourneville综合征 |
| tr | Tuberoskleroz kompleksi | Tüberoskleroz · Bourneville sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 191100 | BTNT | validated | |
| OMIM | 613254 | BTNT | validated | |
| ICD-10 | Q85.1 | E | specific | validated |
| ICD-11 | LD2D.2 | E | specific | validated |
| MONDO | 0001734 | E | validated | |
| MeSH | D014402 | E | validated | |
| UMLS | C0041341 | E | validated | |
| GARD | 7830 | E | validated | |
| MedDRA | 10080584 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (15):
- ORPHA:568047Disorder with multisystemic involvement and primary lymphedema
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases; rare circulatory system diseases - ORPHA:93587Genetic cystic renal disease
rare genetic diseases; rare renal diseases - ORPHA:183481Genetic mixed dermis disorder
rare genetic diseases - ORPHA:183487Genetic skin tumor or hamartoma
rare genetic diseases - ORPHA:252190Inherited nervous system cancer-predisposing syndrome
rare neurological diseases - ORPHA:319328Inherited renal cancer-predisposing syndrome
rare genetic diseases; rare renal diseases; rare neoplastic diseases - ORPHA:98196Malformation syndrome with hamartosis
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:79380Mixed dermis disorder
rare skin diseases - ORPHA:166466Neurocutaneous syndrome with epilepsy
rare genetic diseases; rare neurological diseases - ORPHA:183422Polymalformative genetic syndrome with increased risk of developing cancer
rare genetic diseases; rare neoplastic diseases - ORPHA:180772Rare disease with autism
rare genetic diseases; rare neurological diseases - ORPHA:506213Rare disorder potentially indicated for kidney transplant
rare transplant-related disorders - ORPHA:79386Rare skin tumor or hamartoma
rare skin diseases; rare neoplastic diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases - ORPHA:156162Renal ciliopathy
rare genetic diseases
No children.
4
Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TSC1 | Disease-causing germline mutation(s) in | Assessed | HGNC:12362 | ENSG00000165699 | 605284 | 9q34.13 | TSC complex subunit 1 | 20301399[PMID] |
| TSC2 | Disease-causing germline mutation(s) in | Assessed | HGNC:12363 | ENSG00000103197 | 191092 | 16p13.3 | TSC complex subunit 2 | 20301399[PMID] |
| IFNG | Modifying germline mutation in | Assessed | HGNC:5438 | ENSG00000111537 | 147570 | 12q15 | interferon gamma | 12192641[PMID] |
5
Prevalence and incidence
6 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 1.58 / 100 000 | Taiwan, Province of China | Value and class | Validated | 34344419[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 5.62 / 100 000 | Germany | Value and class | Validated | 30016967[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 4.45 / 100 000 | United Kingdom | Value and class | Validated | 16700943[PMID]_18456692[PMID] |
| Point prevalence | 1-9 / 100 000 | — | Worldwide | Class only | Validated | ORPHANET |
| Point prevalence | 1-9 / 100 000 | 3.87 / 100 000 | Hong Kong | Value and class | Validated | 32988393[PMID] |
| Point prevalence | 1-9 / 100 000 | 5.38 / 100 000 | Sweden | Value and class | Validated | 29078087[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
62 annotations · validated 2020-01-30| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000077 | Abnormality of the kidney | |
| HP:0000708 | Atypical behavior | |
| HP:0002539 | Cortical dysplasia | |
| HP:0009717 | Cortical tubers | |
| HP:0011354 | Generalized abnormality of skin | |
| HP:0009719 | Hypomelanotic macule | |
| HP:0001250 | Seizure | |
| HP:0009716 | Subependymal nodules | |
| Frequent (79-30%) | ||
| HP:0012433 | Abnormal social behavior | |
| HP:0000718 | Aggressive behavior | |
| HP:0010615 | Angiofibromas | |
| HP:0000717 | Autism | |
| HP:0000729 | Autistic behavior | |
| HP:0009729 | Cardiac rhabdomyoma | |
| HP:0040030 | Chorioretinal hypopigmentation | |
| HP:0012622 | Chronic kidney disease | |
| HP:0007449 | Confetti-like hypopigmented macules | |
| HP:0000716 | Depression | |
| HP:0011097 | Epileptic spasm | |
| HP:0007359 | Focal-onset seizure | |
| HP:0000752 | Hyperactivity | |
| HP:0100710 | Impulsivity | |
| HP:0012469 | Infantile spasms | |
| HP:0001249 | Intellectual disability | |
| HP:0012758 | Neurodevelopmental delay | |
| HP:0012798 | Pulmonary lymphangiomyomatosis | |
| HP:0000107 | Renal cyst | |
| HP:0008762 | Repetitive compulsive behavior | |
| HP:0009594 | Retinal hamartoma | |
| HP:0100716 | Self-injurious behavior | |
| HP:0009721 | Shagreen patch | |
| HP:0200035 | Skin plaque | |
| HP:0002360 | Sleep abnormality | |
| HP:0001328 | Specific learning disability | |
| HP:0002133 | Status epilepticus | |
| Occasional (29-5%) | ||
| HP:0000739 | Anxiety | |
| HP:0007018 | Attention deficit hyperactivity disorder | |
| HP:0200040 | Epidermoid cyst | |
| HP:0002105 | Hemoptysis | |
| HP:0001407 | Hepatic cysts | |
| HP:0000822 | Hypertension | |
| HP:0010953 | Noncommunicating hydrocephalus | |
| HP:0002465 | Poor speech | |
| HP:0006772 | Renal angiomyolipoma | |
| HP:0000083 | Renal insufficiency | |
| HP:0002098 | Respiratory distress | |
| HP:0011947 | Respiratory tract infection | |
| HP:0009718 | Subependymal giant-cell astrocytoma | |
| HP:0100804 | Ungual fibroma | |
| Very rare (<4-1%) | ||
| HP:0004942 | Aortic aneurysm | |
| HP:0100570 | Carcinoid tumor | |
| HP:0011029 | Internal hemorrhage | |
| HP:0030405 | Pancreatic endocrine tumor | |
| HP:0002897 | Parathyroid adenoma | |
| HP:0008208 | Parathyroid hyperplasia | |
| HP:0002666 | Pheochromocytoma | |
| HP:0002893 | Pituitary adenoma | |
| HP:0000113 | Polycystic kidney dysplasia | |
| HP:0005584 | Renal cell carcinoma | |
| HP:0002878 | Respiratory failure | |
| HP:0012778 | Retinal astrocytic hamartoma | |
| HP:0003774 | Stage 5 chronic kidney disease | |
Run the differential on the 8 obligate / very frequent terms
Annotation source: 20301399[PMID]_31964424[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/805
- This record as JSON: /data/d/805.json