Tuberous sclerosis 1

Preferred Label : Tuberous sclerosis 1;

Symbol : TSC1;

CISMeF acronym : TSC; TSC1; TS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Tuberous sclerosis complex; TS; Tuberose sclerosis; TSC;

Description : Tuberous sclerosis complex (TSC) is an autosomal dominant multisystem disorder characterized by hamartomas in multiple organ systems, including the brain, skin, heart, kidneys, and lung. Central nervous system manifestations include epilepsy, learning difficulties, behavioral problems, and autism. Renal lesions, usually angiomyolipomas, can cause clinical problems secondary to hemorrhage or by compression and replacement of healthy renal tissue, which can cause renal failure. Patients can also develop renal cysts and renal-cell carcinomas. Pulmonary lymphangioleiomyomatosis can develop in the lungs. Skin lesions include melanotic macules, facial angiofibromas, and patches of connective tissue nevi. There is a wide clinical spectrum, and some patients may have minimal symptoms with no neurologic disability (reviews by Crino et al., 2006 and Curatolo et al., 2008). Approximately 10 to 30% of cases of tuberous sclerosis are due to mutations in the TSC1 gene: the frequency of cases due to mutations in the TSC2 gene is consistently higher. TSC2 mutations are associated with more severe disease (Crino et al., 2006) (see GENOTYPE/PHENOTYPE;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the hamartin gene (TSC1, 605284.0001);

Neoplasia : Myocardial rhabdomyoma; Multiple bilateral renal angiomyolipoma; Ependymoma; Renal carcinoma; Giant cell astrocytoma; Chordoma; Benign tumors of the eye, heart, and lungs;

Laboratory abnormalities : Loss of heterozygosity in giant cell astrocytomas, angiomyolipomas, rhabdomyomas; Increased frequency of premature centromere disjunction (PCD) in cultured fibroblasts, esp. chromosome 3;

Prefixed ID : #191100;

Details

Origin ID

191100;

UMLS CUI

C1854465;

Automatic exact mappings (from CISMeF team)
- C-C Motif Chemokine 26 [NCIt concept]
- CCL26 wt Allele [NCIt concept]
- Chromosomal Translocation [NCIt concept]
- International HapMap Project [NCIt concept]
- Lower case Roman letter t (qualifier value) [SNOMED CT concept]
- Social Workers [MeSH Descriptor]
- T Category [NCIt concept]
- T category (observable entity) [SNOMED CT concept]
- TBXT Gene [NCIt concept]
- TSC complex subunit 1 [HGNC gene]
- TSC complex subunit 1 [ORDO Gene]
- TSC1 Gene [NCIt concept]
- TSC1 gene [LOINC component]
- TSC1 wt Allele [NCIt concept]
- TSC1-TSC2 complex [GO term]
- TYMS wt Allele [NCIt concept]
- Tablespoon Dosing Unit [NCIt concept]
- Teaspoon Dosing Unit [NCIt concept]
- Tera [NCIt concept]
- Tesla [NCIt concept]
- Time [NCIt concept]
- Topical Route of Administration [NCIt concept]
- Tourette syndrome [ORDO Disease]
- Trans Sodium Crocetinate [NCIt concept]
- Trial Summary Domain [NCIt concept]
- Tricuspid Valve Stenosis [NCIt concept]
- Tropical sprue [ICD-11 Sub-sub category]
- Tympanosclerosis [ICD-11 Category]
- Upper case Roman letter T (qualifier value) [SNOMED CT concept]
- Virus-associated trichodysplasia spinulosa [ORDO Disease]
- bleeding time [MeSH Descriptor]
- bleeding time [Blood Transfusion thesaurus concept]
- blood transfusion [MeSH Descriptor]
- calcium voltage-gated channel subunit alpha1 C [ORDO Gene]
- suicide, attempted [MeSH Descriptor]
- thromboxane A synthase 1 [ORDO Gene]
- thymidylate synthetase [ORDO Gene]
- tuberous sclerosis 1 [DO Concept]
Currated CISMeF NLP mapping
- Bourneville syndrome [PASCAL descriptor]
- Tuberous Sclerosis [NCIt concept]
- Tuberous Sclerosis 1 [NCIt concept]
- Tuberous sclerosis [ICD-10 Sub-category]
- Tuberous sclerosis [ICD-10 Sub-category (who)]
- Tuberous sclerosis complex [MedDRA Preferred Term]
- Tuberous sclerosis complex [ORDO Disease]
- Tuberous sclerosis syndrome (disorder) [SNOMED CT concept]
- tuberous sclerosis [Disease (Nov.)]
- tuberous sclerosis [DO Concept]
- tuberous sclerosis [MedDRA Preferred Term]
- tuberous sclerosis [MedlinePlus Topic]
- tuberous sclerosis [MeSH Descriptor]
- tuberous sclerosis [MeSH concept]
- tuberous sclerosis 1 [MeSH concept]
- tuberous sclerosis 1 [MeSH Supplementary Concept]
- tuberous sclerosis syndrome [Radlex concept]
- tuberous sclerosis syndrome [SNOMED Notion]
DO Cross reference
- tuberous sclerosis 1 [DO Concept]
Genes related to phenotype
- Tsc complex subunit 1 [OMIM gene]
HPO term(s)
- Achromatic retinal patches [HPO term]
- Adenoma sebaceum [HPO term]
- Astrocytoma [HPO term]
- Attention deficit hyperactivity disorder [HPO term]
- Autism [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cafe-au-lait spot [HPO term]
- Cardiac rhabdomyoma [HPO term]
- Cerebral calcification [HPO term]
- Chordoma [HPO term]
- Cortical tubers [HPO term]
- Dental enamel pits [HPO term]
- Ependymoma [HPO term]
- Epileptic spasm [HPO term]
- Gingival fibromatosis [HPO term]
- Hemimegalencephaly [HPO term]
- Hypomelanotic macule [HPO term]
- Hypothyroidism [HPO term]
- Infantile seizures [HPO term]
- Infantile spasms [HPO term]
- Intellectual disability [HPO term]
- Intracranial calcification by X-ray or CT [HPO term]
- Optic nerve glioma [HPO term]
- Preauricular hair displacement [HPO term]
- Precocious puberty [HPO term]
- Premature chromatid separation [HPO term]
- Pulmonary lymphangiomyomatosis [HPO term]
- Renal angiomyolipoma [HPO term]
- Renal cell carcinoma [HPO term]
- Renal cyst [HPO term]
- Seizure [HPO term]
- Shagreen patch [HPO term]
- Specific learning disability [HPO term]
- Subcutaneous nodule [HPO term]
- Subependymal nodules [HPO term]
- Subungual fibromas [HPO term]
- Wolff-Parkinson-White syndrome [HPO term]
ORDO concept(s)
- Tuberous sclerosis complex [ORDO Disease]
See also inter- (CISMeF)
- Hamartin [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Tuberous Sclerosis 1 [NCIt concept]
- tuberous sclerosis 1 [MeSH Supplementary Concept]
- tuberous sclerosis 1 [MeSH concept]

Keyword's position in hierarchy(ies) :

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