TUBEROUS SCLEROSIS 1

TUBEROUS SCLEROSIS COMPLEX

http://purl.bioontology.org/ontology/OMIM/191100

TUBEROUS SCLEROSIS COMPLEX

TSC1

TSC

TS

TUBEROSE SCLEROSIS

C0041341

C1854465

9q34

LAM

TSC1

http://purl.bioontology.org/ontology/OMIM/MTHU041635

http://purl.bioontology.org/ontology/OMIM/MTHU015150

http://purl.bioontology.org/ontology/OMIM/MTHU020889

http://purl.bioontology.org/ontology/OMIM/MTHU041639

http://purl.bioontology.org/ontology/OMIM/MTHU031495

http://purl.bioontology.org/ontology/OMIM/MTHU004240

http://purl.bioontology.org/ontology/OMIM/MTHU041637

http://purl.bioontology.org/ontology/OMIM/MTHU007687

http://purl.bioontology.org/ontology/OMIM/MTHU020893

http://purl.bioontology.org/ontology/OMIM/MTHU008962

http://purl.bioontology.org/ontology/OMIM/MTHU012071

http://purl.bioontology.org/ontology/OMIM/MTHU015166

http://purl.bioontology.org/ontology/OMIM/MTHU015156

http://purl.bioontology.org/ontology/OMIM/MTHU015154

http://purl.bioontology.org/ontology/OMIM/MTHU015158

http://purl.bioontology.org/ontology/OMIM/MTHU037101

http://purl.bioontology.org/ontology/OMIM/MTHU002670

http://purl.bioontology.org/ontology/OMIM/MTHU067429

http://purl.bioontology.org/ontology/OMIM/MTHU037188

http://purl.bioontology.org/ontology/OMIM/MTHU000133

http://purl.bioontology.org/ontology/OMIM/MTHU015149

http://purl.bioontology.org/ontology/OMIM/MTHU000554

http://purl.bioontology.org/ontology/OMIM/MTHU041638

http://purl.bioontology.org/ontology/OMIM/MTHU015153

http://purl.bioontology.org/ontology/OMIM/MTHU041636

http://purl.bioontology.org/ontology/OMIM/MTHU015147

http://purl.bioontology.org/ontology/OMIM/MTHU015151

http://purl.bioontology.org/ontology/OMIM/MTHU041634

http://purl.bioontology.org/ontology/OMIM/MTHU007915

http://purl.bioontology.org/ontology/OMIM/MTHU020888

http://purl.bioontology.org/ontology/OMIM/MTHU015165

http://purl.bioontology.org/ontology/OMIM/MTHU020890

http://purl.bioontology.org/ontology/OMIM/MTHU000242

http://purl.bioontology.org/ontology/OMIM/MTHU015155

http://purl.bioontology.org/ontology/OMIM/MTHU000365

http://purl.bioontology.org/ontology/OMIM/MTHU020892

http://purl.bioontology.org/ontology/OMIM/MTHU037187

http://purl.bioontology.org/ontology/OMIM/MTHU026364

http://purl.bioontology.org/ontology/OMIM/MTHU002507

Phenotype description, molecular basis known.

191090

191091

191100

3

pound

TUBEROUS SCLEROSIS 1

Caused by mutation in the hamartin gene (TSC1, 605284.0001) [MOLECULAR BASIS]

Genetic heterogeneity (see 613254) [MISCELLANEOUS]

Prevalence of 1 in 6,000 to 1 in 10,000 [MISCELLANEOUS]

Many studies have reported that the phenotype of tuberous sclerosis-1 (TSC1) is less severe than that of tuberous sclerosis-2 (i.e., higher IQ, less macules, fewer seizures) [MISCELLANEOUS]

Highly variable phenotype [MISCELLANEOUS]

Frequent new mutations (~86%) and/or gonadal mosaicism in TSC1 [MISCELLANEOUS]

Majority of cases are sporadic [MISCELLANEOUS]

One-third of cases are familial [MISCELLANEOUS]

T191

T047