Nephrology
Each bubble is a syndrome; size reflects symptom count and links connect syndromes that share symptoms. Filter by specialty and tune the overlap threshold.
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Nephrology syndromes
44
Nephrology
Abdominal compartment syndrome
Organ dysfunction from raised intra-abdominal pressure.
Nephrology Action myoclonus–renal failure syndrome
Progressive myoclonus epilepsy with proteinuria and renal failure.
Nephrology Alport syndrome
Hereditary basement membrane disorder with hematuria, progressive kidney failure, hearing loss and eye changes.
Nephrology Alport syndrome with diffuse leiomyomatosis
Alport syndrome with esophageal leiomyomatosis from contiguous deletion.
Nephrology Atypical hemolytic uremic syndrome
Complement-mediated thrombotic microangiopathy not caused by Shiga toxin.
Nephrology Birt–Hogg–Dubé syndrome
Fibrofolliculomas, lung cysts and renal tumors.
Nephrology Branchio-oto-renal syndrome
Branchial arch anomalies, hearing loss and renal malformations.
Nephrology Dialysis disequilibrium syndrome
Neurologic symptoms from rapid solute removal during dialysis.
Nephrology EAST syndrome
Epilepsy, ataxia, sensorineural deafness and tubulopathy with hypokalemic alkalosis and hypomagnesemia.
Nephrology Epstein syndrome
MYH9-related disorder with macrothrombocytopenia, nephritis and hearing loss.
Nephrology Fechtner syndrome
MYH9 disorder with Döhle-like inclusions, nephritis, deafness and cataracts.
Nephrology Fraser syndrome
Cryptophthalmos, syndactyly and renal agenesis.
Nephrology Galloway–Mowat syndrome
Microcephaly, brain malformation and steroid-resistant nephrotic syndrome.
Nephrology Goodpasture syndrome
Pulmonary hemorrhage with rapidly progressive glomerulonephritis from anti-glomerular basement membrane antibodies.
Nephrology Hemolytic uremic syndrome
Triad of microangiopathic hemolytic anemia, thrombocytopenia and acute kidney injury.
Nephrology Hepatorenal syndrome
Functional kidney failure in advanced cirrhosis.
Nephrology Hereditary leiomyomatosis and renal cell cancer syndrome
Cutaneous and uterine leiomyomas with aggressive papillary renal cell carcinoma.
Nephrology Hereditary papillary renal carcinoma syndrome
Inherited type 1 papillary renal carcinoma.
Nephrology Hungry bone syndrome
Severe hypocalcemia after parathyroidectomy.
Nephrology Kelley–Seegmiller syndrome
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency with gout and kidney stones.
Nephrology Lesch–Nyhan syndrome
X-linked purine metabolism disorder with hyperuricemia, kidney stones and self-injury.
Nephrology Lowe syndrome
X-linked disorder with congenital cataracts, intellectual disability and renal Fanconi syndrome.
Nephrology Meckel–Gruber syndrome
Lethal ciliopathy with occipital encephalocele, polydactyly and cystic kidneys.
Nephrology Michelis–Castrillo syndrome
Severe renal magnesium and calcium wasting with progressive renal failure.