Rare diseases · Sign or symptom
Nephrotic syndrome
HP:0000100
What it means
Nephrotic syndrome is a collection of findings resulting from glomerular dysfunction with an increase in glomerular capillary wall permeability associated with pronounced proteinuria. Nephrotic syndrome refers to the constellation of clinical findings that result from severe renal loss of protein, with Proteinuria and hypoalbuminemia, edema, and hyperlipidemia.
In adults, nephrotic syndrome is characterized by protein excretion of 3.5 g or more per day. In children, nephrotic syndrome is accompanied by protein excretion of more than 40 mg/m2/h and hypalbuminemia < 2.5 mg/dl.
Rare diseases that can present with this47
Very common80–99%
7Common30–79%
12- AA amyloidosis
- AL amyloidosis
- Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome
- CAMOS syndrome
- Cystic fibrosis-gastritis-megaloblastic anemia syndrome
- Frasier syndrome
- Idiopathic non-lupus full-house nephropathy
- Muckle-Wells syndrome
- Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders
- Multiple myeloma
- Pediatric systemic lupus erythematosus
- Primary membranoproliferative glomerulonephritis
Sometimes5–29%
20- Alagille syndrome
- ALG1-CDG
- Bardet-Biedl syndrome
- C3 glomerulopathy
- CEDNIK syndrome
- Cockayne syndrome
- Combined immunodeficiency due to ZAP70 deficiency
- Congenital syphilis
and 12 more in this range
The range is how often this sign appears among people diagnosed with each disease — it is not a probability of having any of them. Many of these signs also occur in common, non-rare conditions. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
Also called: Nephrosis
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Start free with EleplanThis page uses the Human Phenotype Ontology (2026-06-23) — Human Phenotype Ontology Consortium, hpo.jax.org. Disease associations from Orphanet (INSERM), CC BY 4.0. Content is educational and is not medical advice.