Tuberous sclerosis 2

Preferred Label : Tuberous sclerosis 2;

Symbol : TSC2;

CISMeF acronym : TSC2;

Type : Phenotype, molecular basis known;

Included titles and symbols : Tsc2 angiomyolipomas, renal, modifier of;

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. These changes can result in epilepsy, learning difficulties, behavioral problems, and renal failure, among other complications (reviews by Crino et al., 2006 and Curatolo et al., 2008). For a general phenotypic description and a discussion of genetic heterogeneity of tuberous sclerosis, see tuberous sclerosis-1 (191100), caused by mutation in the TSC1 gene (605284) on chromosome 9q34. 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 tuberin gene (TSC2, 191092.0001);

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

Laboratory abnormalities : Increased frequency of premature centromere disjunction (PCD) in cultured fibroblasts, esp. chromosome 3; Allelic loss on 16p13.3 in angiomyolipoma, cardiac rhabdomyoma, cortical tuber, and giant cell astrocytoma;

Prefixed ID : #613254;

Details

Origin ID

613254;

UMLS CUI

C1860707;

Automatic exact mappings (from CISMeF team)
- TSC complex subunit 2 [HGNC gene]
- TSC complex subunit 2 [ORDO Gene]
- TSC2 Gene [NCIt concept]
- TSC2 gene [LOINC component]
- Tsc2 angiomyolipomas, renal, modifier of [MeSH concept]
- Tsc2 angiomyolipomas, renal, modifier of [MeSH Supplementary Concept]
- tuberous sclerosis 2 [DO Concept]
Currated CISMeF NLP mapping
- Tuberous Sclerosis 2 [NCIt concept]
- tuberous sclerosis 2 [MeSH concept]
- tuberous sclerosis 2 [MeSH Supplementary Concept]
DO Cross reference
- tuberous sclerosis 2 [DO Concept]
Genes related to phenotype
- Interferon, gamma [OMIM gene]
- Tsc complex subunit 2 [OMIM gene]
HPO term(s)
- Achromatic retinal patches [HPO term]
- Adenoma sebaceum [HPO term]
- Angiofibromas [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]
- Ependymoma [HPO term]
- Epileptic spasm [HPO term]
- Gingival fibromatosis [HPO term]
- Hemimegalencephaly [HPO term]
- Heterogeneous [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]
- Precocious puberty [HPO term]
- Pulmonary lymphangiomyomatosis [HPO term]
- Renal angiomyolipoma [HPO term]
- Renal cell carcinoma [HPO term]
- Renal cyst [HPO term]
- Retinal hamartoma [HPO term]
- Seizure [HPO term]
- Shagreen patch [HPO term]
- Specific learning disability [HPO term]
- Subcutaneous nodule [HPO term]
- Subependymal giant-cell astrocytoma [HPO term]
- Subependymal nodules [HPO term]
- Subungual fibromas [HPO term]
- Wolff-Parkinson-White syndrome [HPO term]
- macules [HPO term]
ORDO concept(s)
- Tuberous sclerosis complex [ORDO Disease]
See also inter- (CISMeF)
- Tuberin [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Tuberous Sclerosis 2 [NCIt concept]
- tuberous sclerosis 2 [MeSH Supplementary Concept]
- tuberous sclerosis 2 [MeSH concept]

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