Phenotypes associated with the disease X-linked Alport syndrome-diffuse leiomyomatosis (ORPHA:1018):
- Dysphagia (HP:0002015): Difficulty in swallowing. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1018)
- Abnormal esophagus morphology (HP:0002031): A structural abnormality of the esophagus. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1018)
- Abnormal gastrointestinal tract morphology (HP:0012718): Abnormal structure of the gastrointestinal tract. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1018)
- Esophageal neoplasm (HP:0100751): A tumor (abnormal growth of tissue) of the esophagus. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1018)
- Proteinuria (HP:0000093): Increased levels of protein in the urine. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1018)
- Nephropathy (HP:0000112): A nonspecific term referring to disease or damage of the kidneys. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1018)
- Sensorineural hearing impairment (HP:0000407): A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1018)
- Abnormality of the eye (HP:0000478): Any abnormality of the eye, including location, spacing, and intraocular abnormalities. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1018)
- Cataract (HP:0000518): A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1018)
- Hematuria (HP:0000790): The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1018)
- Failure to thrive (HP:0001508): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1018)
- Vomiting (HP:0002013): Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1018)
- Gastroesophageal reflux (HP:0002020): A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1018)
- Achalasia (HP:0002571): A disorder of esophageal motility characterized by the inability of the lower esophageal sphincter to relax during swallowing and by inadequate or lacking peristalsis in the lower half of the body of the esophagus. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1018)
- Anti-smooth muscle antibody positivity (HP:0003262): The presence in serum of antibodies against smooth muscle. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1018)
- Diffuse leiomyomatosis (HP:0006756). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1018)
- Abnormality of the female genitalia (HP:0010460): Abnormality of the female genital system. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1018)
- Chronic kidney disease (HP:0012622): Functional anomaly of the kidney persisting for at least three months. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1018)
- Chest pain (HP:0100749): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the chest. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1018)
- Hypoperistalsis (HP:0100771): Reduced or inadequate peristalsis, with resultant slow passage of contents through the digestive tract. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1018)
- Dyspepsia (HP:0410281): A heterogeneous group of symptoms that are localized in the epigastric region. Typical dyspeptic symptoms include postprandial fullness, early satiation, epigastric pain and epigastric burning, but other upper gastrointestinal symptoms such as nausea, belching or abdominal bloating often occur. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1018)
- Keratitis (HP:0000491): Inflammation of the cornea. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1018)
- Myopia (HP:0000545): An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1018)
- Weight loss (HP:0001824): Reduction of total body weight. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1018)
- Dyspnea (HP:0002094): Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1018)
- Recurrent respiratory infections (HP:0002205): An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1018)
- Stage 5 chronic kidney disease (HP:0003774): A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1018)
- Tracheobronchial leiomyomatosis (HP:0006524). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1018)
- Esophageal stenosis (HP:0010450): An abnormal narrowing of the lumen of the esophagus. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1018)
- Fibroma (HP:0010614): Benign tumors that are composed of fibrous or connective tissue. They can grow in all organs, arising from mesenchyme tissue. The term "fibroblastic" or "fibromatous" is used to describe tumors of the fibrous connective tissue. When the term fibroma is used without modifier, it is usually considered benign, with the term fibrosarcoma reserved for malignant tumors. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1018)
- Uterine neoplasm (HP:0010784): A tumor (abnormal growth of tissue) of the uterus. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1018)
- Anterior lenticonus (HP:0011501): A conical projection of the anterior surface of the lens, occurring as a developmental anomaly. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1018)
- Aspiration pneumonia (HP:0011951): Pneumonia due to the aspiration (breathing in) of food, liquid, or gastric contents into the upper respiratory tract. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1018)
- Abnormal respiratory system morphology (HP:0012252): A structural anomaly of the respiratory system. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1018)
- Cough (HP:0012735): A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1018)
- Vulvar neoplasm (HP:0030416): A tumor (abnormal growth of tissue) of the female external genital tract (vulva). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1018)
- Precordial pain (HP:0032141): A type of chest pain that arises in the or under the left breast and often described as throbbing, stabbing, or burning, and lasting hours or longer. The pain may arise with or after effort, and may spread to the left arm or left side of the neck. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1018)
- Nasogastric tube feeding (HP:0040288): The condition of inability to eat normally treated by placement of a thin tube through the nose into the stomach that is then used to carry food. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1018)
- Vaginal neoplasm (HP:0100650): A tumor (abnormal growth of tissue) of the vagina. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1018)