Clinical Signs and Symptoms
ORPHA:411634 Juvenile nephropathic cystinosis
The phenotypic description of this disease is based on an analysis of the biomedical literature and uses the terms of the Human Phenotype Ontology (HPO). Phenotypic abnormalities are presented by order of frequency of occurrence in the patient population, then by alphabetical order inside each frequency group.
- Abnormal cornea morphology HP:0000481
- Aminoaciduria HP:0003355
- Corneal crystals HP:0000531
- Glycosuria HP:0003076
- Low-molecular-weight proteinuria HP:0003126
- Ocular pain HP:0200026
- Photophobia HP:0000613
- Proteinuria HP:0000093
- Proximal tubulopathy HP:0000114
- Renal Fanconi syndrome HP:0001994
- Renal insufficiency HP:0000083
- Vomiting HP:0002013
- Abnormal urine potassium concentration HP:0012598
- Chronic kidney disease HP:0012622
- Elevated alkaline phosphatase of bone origin HP:0010639
- Elevated leukocyte cystine HP:0032639
- Elevated serum creatinine HP:0003259
- Growth delay HP:0001510
- Hypocalcemia HP:0002901
- Hypokalemia HP:0002900
- Hyponatremia HP:0002902
- Hypophosphatemia HP:0002148
- Hypothyroidism HP:0000821
- Hypouricemia HP:0003537
- Low levels of vitamin D HP:0100512
- Microscopic hematuria HP:0002907
- Polydipsia HP:0001959
- Polyuria HP:0000103
- Poor appetite HP:0004396
- Renal phosphate wasting HP:0000117
- Stage 5 chronic kidney disease HP:0003774
Specialised Social Services
The information provided is based on published scientific articles.
The information provided is estimated for the entire population of patients in routine care. Some phenotypic abnormalities reported here may occur individually with a variable temporality or severity, while others, not listed, may still be encountered. Phenotypic annotations are not yet available for all rare diseases; the annotation process is ongoing.
The information contained in Orphanet is regularly updated. It is possible that discoveries have been made since the last update and have not yet been incorporated.
Professionals are encouraged to always consult the latest scientific publications before making a decision based on the information provided. The information contained in Orphanet is not intended to replace the services of a healthcare professional. Orphanet cannot be held responsible for the deleterious, truncated or erroneous use of any information found in the Orphanet database.