Clinical Signs and Symptoms
ORPHA:213 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.
- Aminoaciduria HP:0003355
- Corneal opacity HP:0007957
- Dehydration HP:0001944
- Delayed puberty HP:0000823
- Failure to thrive HP:0001508
- Fatigue HP:0012378
- Hypokalemia HP:0002900
- Hypophosphatemia HP:0002148
- Hypothyroidism HP:0000821
- Muscle weakness HP:0001324
- Myopathy HP:0003198
- Nephrogenic diabetes insipidus HP:0009806
- Nephropathy HP:0000112
- Photophobia HP:0000613
- Polydipsia HP:0001959
- Polyuria HP:0000103
- Proteinuria HP:0000093
- Renal tubular dysfunction HP:0000124
- Short stature HP:0004322
- Stereotypy HP:0000733
- Type I diabetes mellitus HP:0100651
- Vomiting HP:0002013
Very frequent
- Renal insufficiency HP:0000083
- Retinopathy HP:0000488
- Rickets HP:0002748
Frequent
- Abnormal pyramidal sign HP:0007256
- Cranial nerve paralysis HP:0006824
- Dysphasia HP:0002357
- Fever HP:0001945
- Gait disturbance HP:0001288
- Intellectual disability, mild HP:0001256
- Malabsorption HP:0002024
- Portal hypertension HP:0001409
- Visual impairment HP:0000505
Occasional
Additional information
Further information
Specialised Social Services
Warning
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.