Phenotypes associated with the disease tuberous sclerosis 1 (OMIM:191100):
- Cortical tubers (HP:0009717): Cortical tubers in the brain are hamartomatous lesions typically located at the gray-white matter interface, commonly in the frontal and parietal lobes. Cortical tubers are composed of abnormal glial and neural cells, and the size, number, and location vary among patients. Evidence: PCS. Frequency: 4/5. (PMID:29196670)
- Subependymal nodules (HP:0009716): Small nodular masses which originate in the subependymal region of the lateral ventricles and protrude into the ventricular cavity. They may represent subependymal hamartomas of tuberous sclerosis. Evidence: PCS. Frequency: 1/5. (PMID:29196670)
- Hypomelanotic macule (HP:0009719): Hypomelanotic macules ("ash leaf spots") are white or lighter patches of skin that may appear anywhere on the body and are caused by a lack of melanin. White ash leaf-shaped macules are considered to be characteristic of tuberous sclerosis. Evidence: PCS. Frequency: 2/5. (PMID:29196670)
- Seizure (HP:0001250): A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. Evidence: PCS. Frequency: 4/5. (PMID:29196670)
- Chordoma (HP:0010762): A chordoma is a tumor that arises from embryonic remnants of the notochord along the length of the neuraxis. Chordomas generally occur in the sacrum, intracranially at the clivus, or along the spinal axis. Evidence: TAS. (OMIM:191100)
- Infantile spasms (HP:0012469): Infantile spasms represent a subset of "epileptic spasms". Infantile Spasms are epileptic spasms starting in the first year of life (infancy). Evidence: PCS. Frequency: 3/22. (PMID:14985384)
- Cafe-au-lait spot (HP:0000957): Cafe-au-lait spots are hyperpigmented lesions that can vary in color from light brown to dark brown with smooth borders and having a size of 1.5 cm or more in adults and 0.5 cm or more in children. Evidence: TAS. (OMIM:191100)
- Autism (HP:0000717): Autism is a neurodevelopmental disorder characterized by impaired social interaction and communication, and by restricted and repetitive behavior. Autism begins in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual (DSM-IV). Evidence: PCS. Frequency: 3/22. (PMID:14985384)
- Adenoma sebaceum (HP:0009720): The presence of a sebaceous adenoma with origin in the sebum secreting cells of the skin. Evidence: TAS. (OMIM:191100)
- Specific learning disability (HP:0001328): Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence. Evidence: IEA. (OMIM:191100)
- Renal angiomyolipoma (HP:0006772): A benign renal neoplasm composed of fat, vascular, and smooth muscle elements. Evidence: PCS. Frequency: 12/15. (PMID:14985384;PMID:29196670)
- Dental enamel pits (HP:0009722): The presence of small depressions in the dental enamel. Evidence: IEA. (OMIM:191100)
- Premature chromatid separation (HP:0200024): The presence of premature sister chromatid segregation. Evidence: IEA. (OMIM:191100)
- Shagreen patch (HP:0009721): A plaque representing a connective-tissue nevus. Connective tissue naevi are uncommon skin lesions that occur when the deeper layers of the skin do not develop correctly or the components of these layers occur in the wrong proportion. Shagreen patches are oval-shaped and nevoid, skin-colored or occasionally pigmented, smooth or crinkled. The word shagreen refers to a type of roughened untanned leather. Evidence: PCS. Frequency: 1/5. (PMID:29196670)
- Subungual fibromas (HP:0009724): The presence of fibromata beneath finger or toenails. Evidence: IEA. (OMIM:191100)
- Cerebral calcification (HP:0002514): The presence of calcium deposition within the cerebrum. Evidence: IEA. (OMIM:191100)
- Hemimegalencephaly (HP:0007206): Enlargement of all or parts of one cerebral hemisphere. Evidence: PCS. (PMID:22497611)
- Intellectual disability (HP:0001249): The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence. Evidence: PCS. Frequency: 6/27. (PMID:14985384;PMID:29196670)
- Achromatic retinal patches (HP:0009727): Areas of the retina lacking pigmentation. Punched out areas of chorioretinal hypopigmentation less than 1 disk diameter in size and tending to be located in the midperiphery of the retina. Evidence: IEA. (OMIM:191100)
- Angiofibromas (HP:0010615): Angiofibroma consist of many often dilated vessels. Evidence: PCS. Frequency: 4/5. (PMID:29196670)
- Cardiac rhabdomyoma (HP:0009729): A benign tumor of cardiac striated muscle. Evidence: TAS. (OMIM:191100)
- Renal cell carcinoma (HP:0005584): A type of carcinoma of the kidney with origin in the epithelium of the proximal convoluted renal tubule. Evidence: IEA. (OMIM:191100)
- Subcutaneous nodule (HP:0001482): Slightly elevated lesions on or in the skin with a diameter of over 5 mm. Evidence: IEA. (OMIM:191100)
- Pulmonary lymphangiomyomatosis (HP:0012798): Infiltration of smooth muscle-like cells in lymph vessels as well as the lung (pleura, alveolar septa, bronchi, pulmonary vessels and lymphatics as well as lymph nodes, especially in posterior mediastinum and retroperitoneum). Focal emphysema can develop because of airway narrowing, and the thoracic duct may be obliterated. Pulmonary lymphangiomyomatosis may lead to multiple small cysts with a hamartomatous proliferation of smooth muscle in their walls. Evidence: PCS. Frequency: 20/78. (PMID:10852420)
- Pulmonary lymphangiomyomatosis (HP:0012798): Infiltration of smooth muscle-like cells in lymph vessels as well as the lung (pleura, alveolar septa, bronchi, pulmonary vessels and lymphatics as well as lymph nodes, especially in posterior mediastinum and retroperitoneum). Focal emphysema can develop because of airway narrowing, and the thoracic duct may be obliterated. Pulmonary lymphangiomyomatosis may lead to multiple small cysts with a hamartomatous proliferation of smooth muscle in their walls. Evidence: PCS. Frequency: Very rare (HP:0040284). (PMID:16485546)
- Pulmonary lymphangiomyomatosis (HP:0012798): Infiltration of smooth muscle-like cells in lymph vessels as well as the lung (pleura, alveolar septa, bronchi, pulmonary vessels and lymphatics as well as lymph nodes, especially in posterior mediastinum and retroperitoneum). Focal emphysema can develop because of airway narrowing, and the thoracic duct may be obliterated. Pulmonary lymphangiomyomatosis may lead to multiple small cysts with a hamartomatous proliferation of smooth muscle in their walls. Evidence: PCS. Frequency: 0/5. (PMID:29196670)
- Epileptic spasm (HP:0011097): A sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that is usually more sustained than a myoclonic movement but not as sustained as a tonic seizure. Limited forms may occur: Grimacing, head nodding, or subtle eye movements. Epileptic spasms frequently occur in clusters. Infantile spasms are the best known form, but spasms can occur at all ages. Evidence: PCS. (PMID:26067126)
- Astrocytoma (HP:0009592): Astrocytoma is a neoplasm of the central nervous system derived from astrocytes. Astrocytes are a type of glial cell, and thus astrocytoma is a subtype of glioma. Evidence: IEA. (OMIM:191100)
- Precocious puberty (HP:0000826): The onset of secondary sexual characteristics before a normal age. Although it is difficult to define normal age ranges because of the marked variation with which puberty begins in normal children, precocious puberty can be defined as the onset of puberty before the age of 8 years in girls or 9 years in boys. Evidence: IEA. (OMIM:191100)
- Retinal hamartoma (HP:0009594): A hamartoma (a benign, focal malformation consisting of a disorganized mixture of cells and tissues) of the retina. Evidence: PCS. Frequency: 0/5. (PMID:29196670)
- Wolff-Parkinson-White syndrome (HP:0001716): A disorder of the cardiac conduction system of the heart characterized by ventricular preexcitation due to the presence of an abnormal accessory atrioventricular electrical conduction pathway. Evidence: IEA. (OMIM:191100)
- Autistic behavior (HP:0000729): Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior. Evidence: PCS. Frequency: 4/5. (PMID:29196670)
- Renal cyst (HP:0000107): A fluid filled sac in the kidney. Evidence: IEA. (OMIM:191100)
- Hypothyroidism (HP:0000821): Deficiency of thyroid hormone. Evidence: IEA. (OMIM:191100)
- Preauricular hair displacement (HP:0009554): An tongue-like extension of hair towards the cheeks, in which hair growth extends in front of the ear to the lateral cheekbones. Evidence: IEA. (OMIM:191100)
- Gingival fibromatosis (HP:0000169): The presence of fibrosis of the gingiva. Evidence: IEA. (OMIM:191100)
- Attention deficit hyperactivity disorder (HP:0007018): Attention deficit hyperactivity disorder (ADHD) manifests at age 2-3 years or by first grade at the latest. The main symptoms are distractibility, impulsivity, hyperactivity, and often trouble organizing tasks and projects, difficulty going to sleep, and social problems from being aggressive, loud, or impatient. Evidence: IEA. (OMIM:191100)
- Ependymoma (HP:0002888): The presence of an ependymoma of the central nervous system. Evidence: IEA. (OMIM:191100)
- Optic nerve glioma (HP:0009734): A glioma originating in the optic nerve or optic chiasm. Evidence: TAS. (OMIM:191100)
- Autosomal dominant inheritance (HP:0000006): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:14985384)