Rare diseases · Sign or symptom
Hematuria
Blood in urine
HP:0000790
What it means
The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine).
Rare diseases that can present with this88
Very common80–99%
16- Alport syndrome
- Atypical hemolytic uremic syndrome
- Autosomal dominant Alport syndrome
- Autosomal recessive Alport syndrome
- C3 glomerulopathy
- Cystinuria
- Dent disease
- Drug-induced lupus erythematosus
- Fabry disease
- Granulomatosis with polyangiitis
- Hemophilia B
- Immunoglobulin A vasculitis
- Malakoplakia
- Microscopic polyangiitis
- Primary hyperoxaluria type 3
- Small cell carcinoma of the bladder
Common30–79%
24- Anti-glomerular basement membrane disease
- Autosomal dominant polycystic kidney disease
- Congenital alpha2-antiplasmin deficiency
- Congenital megacalycosis
- Cryoglobulinemic vasculitis
- Eosinophilic granulomatosis with polyangiitis
- Hypocomplementemic urticarial vasculitis
- IgG4-related kidney disease
- Immune-mediated thrombotic thrombocytopenic purpura
- Immunoglobulin-mediated membranoproliferative glomerulonephritis
- Junctional epidermolysis bullosa with pyloric atresia
- Lesch-Nyhan syndrome
- Lymphangioleiomyomatosis
- Lysinuric protein intolerance
- Medullary sponge kidney
- Pediatric systemic lupus erythematosus
- Primary hyperoxaluria
- Primary hyperoxaluria type 1
- Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement
- Renal nutcracker syndrome
- Rhabdoid tumor
- Systemic lupus erythematosus
- Uveal coloboma-cleft lip and palate-intellectual disability
- X-linked Alport syndrome-diffuse leiomyomatosis
Sometimes5–29%
38- Acquired von Willebrand syndrome
- Autoerythrocyte sensitization syndrome
- Capillary-lymphatic-venous malformation with segmental distribution
- Chronic graft versus host disease
- Chronic mucocutaneous candidiasis
- Combined deficiency of factor V and factor VIII
- Congenital factor V deficiency
- Congenital factor X deficiency
and 30 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: High urine occult blood
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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.