Phenotypes associated with the disease Lynch syndrome (ORPHA:144):
- Weight loss (HP:0001824): Reduction of total body weight. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:144)
- Constipation (HP:0002019): Infrequent or difficult evacuation of feces. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:144)
- Malabsorption (HP:0002024): Impaired ability to absorb one or more nutrients from the intestine. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:144)
- Abdominal pain (HP:0002027): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:144)
- Gastrointestinal hemorrhage (HP:0002239): Hemorrhage affecting the gastrointestinal tract. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:144)
- Colon cancer (HP:0003003). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:144)
- Neoplasm of the skin (HP:0008069): A tumor (abnormal growth of tissue) of the skin. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:144)
- Adenoma sebaceum (HP:0009720): The presence of a sebaceous adenoma with origin in the sebum secreting cells of the skin. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:144)
- Glioblastoma multiforme (HP:0012174): A tumor arising from glia in the central nervous system with macroscopic regions of necrosis and hemorrhage. Microscopically, glioblastoma multiforme is characterized by regions of pseudopalisading necrosis, pleomorphic nuclei and cells, and microvascular proliferation. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:144)
- Fatigue (HP:0012378): A subjective feeling of tiredness characterized by a lack of energy and motivation. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:144)
- Atypical behavior (HP:0000708): Atypical behavior is an abnormality in a person's actions that can be controlled or modulated by the will of the individual. While abnormal behaviors can be difficult to control, they are distinct from other abnormal actions that cannot be affected by the individual's will. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:144)
- Depression (HP:0000716): Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover from these moods; having a pessimistic outlook on the future; feeling a pervasive sense of shame; having a low self-worth; experiencing thoughts of suicide and engaging in suicidal behavior. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:144)
- Irritability (HP:0000737): An emotional state characterized by negative feelings of heightened frustration, annoyance, or feeling upset, often triggered by internal factors (e.g., fatigue, hunger, unfulfilled desires) or external factors (e.g., social or environmental challenges). Irritability may be unpredictable, and is accompanied by a lowered threshold for emotional reactivity and observable features (speech, facial expressions, or psychomotor activity). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:144)
- Anxiety (HP:0000739): Intense feelings of nervousness, tension, or panic often arise in response to interpersonal stresses. There is worry about the negative effects of past unpleasant experiences and future negative possibilities. Individuals may feel fearful, apprehensive, or threatened by uncertainty, and they may also have fears of falling apart or losing control. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:144)
- 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:144)
- Hypotonia (HP:0001252): Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:144)
- Hypertonia (HP:0001276): A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:144)
- Death in infancy (HP:0001522): Death within the first 24 months of life. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:144)
- Nausea and vomiting (HP:0002017): Nausea is a commonly encountered symptom that has been defined as an unpleasant painless subjective feeling that one will imminently vomit. Vomiting has been defined as the forceful expulsion of the contents of the stomach, duodenum, or jejunum through the oral cavity. While nausea and vomiting are often thought to exist on a temporal continuum, this is not always the case. There are situations when severe nausea may be present without emesis and less frequently, when emesis may be present without preceding nausea. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:144)
- Migraine (HP:0002076): Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:144)
- Increased intracranial pressure (HP:0002516): An increase of the pressure inside the cranium (skull) and thereby in the brain tissue and cerebrospinal fluid. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:144)
- Neoplasm of the stomach (HP:0006753): A tumor (abnormal growth of tissue) of the stomach. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:144)
- 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:144)
- Death in early adulthood (HP:0100613): Death between the age of 16 and 40 years. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:144)
- Neoplasm of the rectum (HP:0100743). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:144)
- Visual impairment (HP:0000505): Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:144)
- Hallucinations (HP:0000738): Perceptions in a conscious and awake state that, in the absence of external stimuli, have qualities of real perception. These perceptions are vivid, substantial, and located in external objective space. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:144)
- Visual field defect (HP:0001123). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:144)
- Dysarthria (HP:0001260): Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:144)
- Gait disturbance (HP:0001288): The term gait disturbance can refer to any disruption of the ability to walk. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:144)
- Flexion contracture (HP:0001371): A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:144)
- Hepatocellular carcinoma (HP:0001402): A kind of neoplasm of the liver that originates in hepatocytes and presents macroscopically as a soft and hemorrhagic tan mass in the liver. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:144)
- Abnormal speech pattern (HP:0002167): An abnormality in the sound (volume) or cadence (rate) of speech. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:144)
- Memory impairment (HP:0002354): An impairment of memory as manifested by a reduced ability to remember things such as dates and names, and increased forgetfulness. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:144)
- Developmental regression (HP:0002376): Loss of developmental skills, as manifested by loss of developmental milestones. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:144)
- Basal cell carcinoma (HP:0002671): The presence of a basal cell carcinoma of the skin. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:144)
- Pituitary adenoma (HP:0002893): A benign epithelial tumor derived from intrinsic cells of the adenohypophysis (anterior pituitary). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:144)
- Neoplasm of the pancreas (HP:0002894): A tumor (abnormal growth of tissue) of the pancreas. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:144)
- Neoplasm of the liver (HP:0002896): A tumor (abnormal growth of tissue) of the liver. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:144)
- Breast carcinoma (HP:0003002): The presence of a carcinoma of the breast. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:144)
- Neuroblastoma (HP:0003006): Neuroblastoma is a solid tumor that originate in neural crest cells of the sympathetic nervous system. Most neuroblastomas originate in the abdomen, and most abdominal neuroblastomas originate in the adrenal gland. Neuroblastomas can also originate in the thorax, usually in the posterior mediastinum. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:144)
- Paresthesia (HP:0003401): Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:144)
- Hemiplegia/hemiparesis (HP:0004374): Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a severe or complete loss of strength, whereas hemiparesis refers to a relatively mild loss of strength. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:144)
- Hematological neoplasm (HP:0004377): Neoplasms located in the blood and blood-forming tissue (the bone marrow and lymphatic tissue). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:144)
- Pancreatic adenocarcinoma (HP:0006725): The presence of an adenocarcinoma of the pancreas. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:144)
- Malignant genitourinary tract tumor (HP:0006758): The presence of a malignant neoplasm of the genital system. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:144)
- Abnormal pyramidal sign (HP:0007256): Functional neurological abnormalities related to dysfunction of the pyramidal tract. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:144)
- Renal neoplasm (HP:0009726): The presence of a neoplasm of the kidney. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:144)
- Disturbed sensory perception (HP:0010524): Alteration or impairment in the processing or interpretation of sensory information can lead to abnormal perceptions or experiences. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:144)
- Dysgraphia (HP:0010526): A writing disability in the absence of motor or sensory deficits of the upper extremities, resulting in an impairment in the ability to write regardless of the ability to read and not due to intellectual impairment. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:144)
- Neoplasm of the skeletal system (HP:0010622): A tumor (abnormal growth of tissue) of the skeleton. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:144)
- Urinary tract neoplasm (HP:0010786): The presence of a neoplasm of the urinary system. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:144)
- Endometrial carcinoma (HP:0012114): A carcinoma of the endometrium, the mucous lining of the uterus. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:144)
- Laryngeal carcinoma (HP:0012118): A carcinoma of the larynx. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:144)
- Neoplasm of the thyroid gland (HP:0100031): A tumor (abnormal growth of tissue) of the thyroid gland. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:144)
- Cardiac diverticulum (HP:0100571): A cardiac diverticulum is a rare congenital malformation which is either fibrous or muscular. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:144)
- Amaurosis fugax (HP:0100576): A transient visual disturbance that is typically caused by a circulatory, ocular or neurological underlying condition. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:144)
- Ovarian neoplasm (HP:0100615): A tumor (abnormal growth of tissue) of the ovary. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:144)
- Dyskinesia (HP:0100660): A movement disorder which consists of effects including diminished voluntary movements and the presence of involuntary movements. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:144)
- Salivary gland neoplasm (HP:0100684): A tumor (abnormal growth of tissue) of a salivary gland. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:144)
- Benign neoplasm of the central nervous system (HP:0100835). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:144)
- Intestinal polyposis (HP:0200008): The presence of multiple polyps in the intestine. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:144)