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Online Mendelian Inheritance in Man
Last uploaded:
January 16, 2025
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| Id | http://purl.bioontology.org/ontology/OMIM/613254
http://purl.bioontology.org/ontology/OMIM/613254
|
|---|---|
| Preferred Name | TUBEROUS SCLEROSIS 2 |
| Synonyms |
TSC2 ANGIOMYOLIPOMAS, RENAL, MODIFIER OF
TSC2
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
TSC2 ANGIOMYOLIPOMAS, RENAL, MODIFIER OF
TSC2
|
|---|---|
| prefLabel | TUBEROUS SCLEROSIS 2
|
| Gene Symbol |
TSC2
LAM
|
| notation | 613254
|
| Scope Statement | Many studies have reported that the phenotype of tuberous sclerosis-2 (TSC2) is more severe than that of tuberous sclerosis-1 (e.g., lower IQ, more seizures, more macules, cust-like cortical tubers) [MISCELLANEOUS]
One-third of cases are familial [MISCELLANEOUS]
Prevalence of 1 in 6,000 to 1 in 10,000 [MISCELLANEOUS]
Frequent new mutations (~60%) and/or gonadal mosaicism in TSC2 [MISCELLANEOUS]
Genetic heterogeneity (see 191100) [MISCELLANEOUS]
Highly variable phenotype [MISCELLANEOUS]
Caused by mutation in the tuberin gene (TSC2, 191092.0001) [MOLECULAR BASIS]
Majority of cases are sporadic [MISCELLANEOUS]
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| OMIM MimType Value | pound
|
| Has inheritance type | |
| Semantic type UMLS property | |
| OMIM Entry Type | 3
|
| type | |
| Has manifestation |
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| Gene Locus | 16p13.3
|
| tui |
T047
T033
|
| cui |
C2750460
C1860707
|
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