Nephropathic cystinosis
Nephropathic cystinosis
Definition
An autosomal recessive condition caused by mutation(s) in the CTNS gene, encoding cystinosin. It is a sub-type of cystinosis, in which accumulation of cystine in the kidney results in renal dysfunction.
Also known as Abderhalden Kaufmann Lignac syndrome, Abderhalden Lignac Kaufmann disease, Abderhalden-Kaufmann-Lignac syndrome, Abderhalden-Lignac-Kaufmann disease, CTNS, cystinosis, atypical nephropathic, cystinosis, nephropathic — per MONDO
Also identified as
Affected Organs
| Organ | Involvement | Source |
|---|---|---|
| Adult mammalian kidney | Disease Has Associated Anatomic Site | NCIT · CC BY 4.0 |
| Adult mammalian kidney | Disease Has Primary Anatomic Site | NCIT · CC BY 4.0 |
| Genitourinary system | Disease Has Associated Anatomic Site | NCIT · CC BY 4.0 |
| Genitourinary system | Disease Has Primary Anatomic Site | NCIT · CC BY 4.0 |
| Renal system | Disease Has Associated Anatomic Site | NCIT · CC BY 4.0 |
| Renal system | Disease Has Primary Anatomic Site | NCIT · CC BY 4.0 |