Tuberous Sclerosis-1 malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Nephrological diseases, Skin diseases, Fetal diseases
11Disease Ontology, 12diseasecard, 13DISEASES, 23GeneReviews, 24GeneTests, 25Genetics Home Reference, 26GTR, 29ICD10, 30ICD10 via Orphanet, 31ICD9CM, 36MedGen, 37MedlinePlus, 38MeSH, 39MESH via Orphanet, 44NCIt, 47NIH Rare Diseases, 48NINDS, 49Novoseek, 51OMIM, 53Orphanet, 61SNOMED-CT, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
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Aliases & Descriptions for Tuberous Sclerosis-1:
Orphanet epidemiological data:53
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (United States),1-5/10000 (Europe),1-9/100000 (Ireland),1-9/100000 (United Kingdom),1-5/10000 (United Kingdom),1-9/100000 (United States),1-9/100000 (Taiwan, Province of China); Age of onset: All ages; Age of death: any age
Penetrance: after detailed evaluation of each individual known to have a tsc1 or tsc2 pathogenic variant, the penetrance of tsc is now thought to be 100%. rare instances of apparent non-penetrance have been reported; however, molecular studies revealed the presence of two different pathogenic variants in the family and the existence of germline mosaicism in others [connor et al 1986, webb & osborne 1991, rose et al 1999]...
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Neuronal diseases, Eye diseases, Nephrological diseases, Skin diseases
ICD10: 30 29
Rare neurological diseases
Rare eye diseases
Rare renal diseases
Rare skin diseases
Developmental anomalies during embryogenesis
OMIM:51 Tuberous sclerosis complex (TSC) is an autosomal dominant multisystem disorder characterized by hamartomas in multiple... (191100) more...
MalaCards based summary: Tuberous Sclerosis-1, also known as tuberous sclerosis, is related to lymphangioleiomyomatosis and polycystic kidney disease, infantile severe, with tuberous sclerosis, and has symptoms including prominent occiput, eeg abnormality and neoplasm of the nervous system. An important gene associated with Tuberous Sclerosis-1 is TSC1 (Tuberous Sclerosis 1), and among its related pathways are LKB1 signaling events and Constitutive Signaling by AKT1 E17K in Cancer. Affiliated tissues include skin, kidney and brain, and related mouse phenotypes are liver/biliary system and respiratory system.
Genetics Home Reference:25 Tuberous sclerosis complex is a genetic disorder characterized by the growth of numerous noncancerous (benign) tumors in many parts of the body. These tumors can occur in the skin, brain, kidneys, and other organs, in some cases leading to significant health problems. Tuberous sclerosis complex also causes developmental problems, and the signs and symptoms of the condition vary from person to person.
MedlinePlus:37 Tuberous sclerosis is a rare genetic disease that causes benign tumors to grow in the brain and other organs. symptoms vary, depending on where the tumors grow. they could include skin problems, such as light patches and thickened skin seizures behavior problems intellectual disabilities kidney problems some people have signs of tuberous sclerosis at birth. in others it can take time for the symptoms to develop. the disease can be mild, or it can cause severe disabilities. in rare cases, tumors in vital organs or other symptoms can be life-threatening. tuberous sclerosis has no cure, but treatments can help symptoms. options include medicines, educational and occupational therapy, surgery, or surgery to treat specific complications. nih: national institute of neurological disorders and stroke
NINDS:48 Tuberous sclerosis (TSC) is a rare genetic disease that causes benign tumors to grow in the brain and on other vital organs such as the kidneys, heart, eyes, lungs, and skin. It usually affects the central nervous system. In addition to the benign tumors that frequently occur in TSC, other common symptoms include seizures,impaired intellectual development, behavior problems, and skin abnormalities. TSC may be present at birth, but signs of the disorder can be subtle and full symptoms may take some time to develop. Three types of brain tumors are associated with TSC: cortical tubers, which generally form on the surface of the brain; subependymal nodules, which form in the walls of the ventricles (the fluid-filled cavities of the brain); and giant-cell astrocytomas, a type of tumor that can block the flow of fluids within the brain.
UniProtKB/Swiss-Prot:69 Tuberous sclerosis 1: An autosomal dominant multi-system disorder that affects especially the brain, kidneys, heart, and skin. It is characterized by hamartomas (benign overgrowths predominantly of a cell or tissue type that occurs normally in the organ) and hamartias (developmental abnormalities of tissue combination). Clinical manifestations include epilepsy, learning difficulties, behavioral problems, and skin lesions. Seizures can be intractable and premature death can occur from a variety of disease-associated causes.
GeneReviews for NBK1220
Human phenotypes related to Tuberous Sclerosis-1:63 53 (show all 77)
UMLS symptoms related to Tuberous Sclerosis-1:back pain, headache, pain, sciatica, seizures, syncope, tremor, chronic pain, umbilical discharge, osler's node, abnormal granulation tissue, vertigo/dizziness, skin symptom, sleeplessness
Drugs for Tuberous Sclerosis-1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show top 50) (show all 75)
Interventional clinical trials:(show top 50) (show all 61)
Search NIH Clinical Center for Tuberous Sclerosis-1
MalaCards organs/tissues related to Tuberous Sclerosis-1:35
Skin, Kidney, Brain, Heart, Lung, Eye, Pancreas
MGI Mouse Phenotypes related to Tuberous Sclerosis-1:40 (show all 25)
Articles related to Tuberous Sclerosis-1:
UniProtKB/Swiss-Prot genetic disease variations for Tuberous Sclerosis-1:69
Clinvar genetic disease variations for Tuberous Sclerosis-1:5 (show all 123)
Copy number variations for Tuberous Sclerosis-1 from CNVD:6
Search GEO for disease gene expression data for Tuberous Sclerosis-1.
Pathways related to Tuberous Sclerosis-1 according to GeneCards Suite gene sharing:(show all 43)
Cellular components related to Tuberous Sclerosis-1 according to GeneCards Suite gene sharing:
Biological processes related to Tuberous Sclerosis-1 according to GeneCards Suite gene sharing:(show all 30)
Molecular functions related to Tuberous Sclerosis-1 according to GeneCards Suite gene sharing:
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet