Tuberous sclerosis 1
Summary
Excerpted from the GeneReview:- Full text of GeneReview (by section):
- Summary
- Diagnosis
- Clinical Characteristics
- Genetically Related (Allelic) Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- Chapter Notes
- References
- Authors:
- Hope Northrup
- Mary Kay Koenig
- Deborah A Pearson
- view full author information
Available tests
Check Related conditions for additional relevant tests.
Clinical features
Help- Abnormal cellular phenotype
- Premature chromatid separation
Premature chromatid separation
- MedGen UID: 867516
- Concept ID: C4021899
- Finding: Cell or Molecular Dysfunction
Abnormal cellular phenotype
- Premature chromatid separation
- Abnormality of head or neck
- Adenoma sebaceum
Adenoma sebaceum
- MedGen UID: 75563
- Concept ID: C0265319
- Finding: Neoplastic Process
Abnormality of head or neck
- Preauricular hair displacement
Preauricular hair displacement
- MedGen UID: 869865
- Concept ID: C4024296
- Finding: Finding
Abnormality of head or neck
- Adenoma sebaceum
- Abnormality of the cardiovascular system
- Wolff-Parkinson-White pattern
Wolff-Parkinson-White pattern
- MedGen UID: 12162
- Concept ID: C0043202
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Wolff-Parkinson-White pattern
- Abnormality of the endocrine system
- Hypothyroidism
Hypothyroidism
- MedGen UID: 6991
- Concept ID: C0020676
- Finding: Disease or Syndrome
Abnormality of the endocrine system
- Precocious puberty
Precocious puberty
- MedGen UID: 18752
- Concept ID: C0034013
- Finding: Disease or Syndrome
Abnormality of the endocrine system
- Hypothyroidism
- Abnormality of the eye
- Achromatic retinal patches
Achromatic retinal patches
- MedGen UID: 348171
- Concept ID: C1860710
- Finding: Finding
Abnormality of the eye
- Retinal hamartoma
Retinal hamartoma
- MedGen UID: 354977
- Concept ID: C1863411
- Finding: Neoplastic Process
Abnormality of the eye
- Achromatic retinal patches
- Abnormality of the genitourinary system
- Renal cyst
Renal cyst
- MedGen UID: 854361
- Concept ID: C3887499
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Renal cyst
- Abnormality of the integument
- Cafe-au-lait spot
Cafe-au-lait spot
- MedGen UID: 113157
- Concept ID: C0221263
- Finding: Finding
Abnormality of the integument
- Hypomelanotic macule
Hypomelanotic macule
- MedGen UID: 869790
- Concept ID: C4024220
- Finding: Finding
Abnormality of the integument
- Shagreen patch
Shagreen patch
- MedGen UID: 96599
- Concept ID: C0432363
- Finding: Congenital Abnormality
Abnormality of the integument
- Subcutaneous nodule
Subcutaneous nodule
- MedGen UID: 101803
- Concept ID: C0151811
- Finding: Pathologic Function
Abnormality of the integument
- Cafe-au-lait spot
- Abnormality of the musculoskeletal system
- Cerebral calcification
Cerebral calcification
- MedGen UID: 124360
- Concept ID: C0270685
- Finding: Finding
Abnormality of the musculoskeletal system
- Chordoma
Chordoma
- MedGen UID: 40277
- Concept ID: C0008487
- Finding: Neoplastic Process
Abnormality of the musculoskeletal system
- Dental enamel pits
Dental enamel pits
- MedGen UID: 395958
- Concept ID: C1860711
- Finding: Finding
Abnormality of the musculoskeletal system
- Cerebral calcification
- Abnormality of the nervous system
- Astrocytoma
Astrocytoma
- MedGen UID: 438
- Concept ID: C0004114
- Finding: Neoplastic Process
Abnormality of the nervous system
- Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder
- MedGen UID: 220387
- Concept ID: C1263846
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Autism
Autism
- MedGen UID: 13966
- Concept ID: C0004352
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Autistic behavior
Autistic behavior
- MedGen UID: 163547
- Concept ID: C0856975
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Cortical tubers
Cortical tubers
- MedGen UID: 369896
- Concept ID: C1968959
- Finding: Finding
Abnormality of the nervous system
- Ependymoma
Ependymoma
- MedGen UID: 41825
- Concept ID: C0014474
- Finding: Neoplastic Process
Abnormality of the nervous system
- Epileptic spasm
Epileptic spasm
- MedGen UID: 315948
- Concept ID: C1527366
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Hemimegalencephaly
Hemimegalencephaly
- MedGen UID: 140910
- Concept ID: C0431391
- Finding: Finding
Abnormality of the nervous system
- Infantile spasms
Infantile spasms
- MedGen UID: 854616
- Concept ID: C3887898
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Intellectual disability
Intellectual disability
- MedGen UID: 811461
- Concept ID: C3714756
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Optic nerve glioma
Optic nerve glioma
- MedGen UID: 138056
- Concept ID: C0346326
- Finding: Neoplastic Process
Abnormality of the nervous system
- Seizure
Seizure
- MedGen UID: 20693
- Concept ID: C0036572
- Finding: Sign or Symptom
Abnormality of the nervous system
- Specific learning disability
Specific learning disability
- MedGen UID: 871302
- Concept ID: C4025790
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Subependymal nodules
Subependymal nodules
- MedGen UID: 369895
- Concept ID: C1968958
- Finding: Finding
Abnormality of the nervous system
- Astrocytoma
- Neoplasm
- Angiofibromas
Angiofibromas
- MedGen UID: 104928
- Concept ID: C0206731
- Finding: Neoplastic Process
Neoplasm
- Cardiac rhabdomyoma
Cardiac rhabdomyoma
- MedGen UID: 232027
- Concept ID: C1332852
- Finding: Neoplastic Process
Neoplasm
- Gingival fibromatosis
Gingival fibromatosis
- MedGen UID: 42017
- Concept ID: C0016049
- Finding: Finding
Neoplasm
- Kidney angiomyolipoma
Kidney angiomyolipoma
- MedGen UID: 69146
- Concept ID: C0241961
- Finding: Neoplastic Process
Neoplasm
- Pulmonary lymphangiomyomatosis
Pulmonary lymphangiomyomatosis
- MedGen UID: 852455
- Concept ID: C0238399
- Finding: Finding
Neoplasm
- Renal cell carcinoma
Renal cell carcinoma
- MedGen UID: 766
- Concept ID: C0007134
- Finding: Neoplastic Process
Neoplasm
- Subungual fibromas
Subungual fibromas
- MedGen UID: 82726
- Concept ID: C0266003
- Finding: Finding
Neoplasm
- Angiofibromas
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.