Anemia, and Hematuria

Diseases related with Anemia and Hematuria

In the following list you will find some of the most common rare diseases related to Anemia and Hematuria that can help you solving undiagnosed cases.


Top matches:

Low match ATYPICAL HEMOLYTIC-UREMIC SYNDROME WITH B FACTOR ANOMALY


ATYPICAL HEMOLYTIC-UREMIC SYNDROME WITH B FACTOR ANOMALY Is also known as hemolytic-uremic syndrome without diarrhea with b factor anomaly|ahus, susceptibility to, 4|atypical hus with b factor anomaly|ahus with b factor anomaly|d-hus with b factor anomaly

Related symptoms:

  • Hypertension
  • Thrombocytopenia
  • Proteinuria
  • Hematuria
  • Acute kidney injury


SOURCES: ORPHANET OMIM MENDELIAN

More info about ATYPICAL HEMOLYTIC-UREMIC SYNDROME WITH B FACTOR ANOMALY

Low match ATYPICAL HEMOLYTIC-UREMIC SYNDROME WITH I FACTOR ANOMALY


ATYPICAL HEMOLYTIC-UREMIC SYNDROME WITH I FACTOR ANOMALY Is also known as atypical hus with i factor anomaly|d-hus with i factor anomaly|ahus, susceptibility to, 3|hemolytic-uremic syndrome without diarrhea with i factor anomaly|ahus with i factor anomaly

Related symptoms:

  • Anemia
  • Hypertension
  • Thrombocytopenia
  • Proteinuria
  • Hemolytic anemia


SOURCES: OMIM ORPHANET MENDELIAN

More info about ATYPICAL HEMOLYTIC-UREMIC SYNDROME WITH I FACTOR ANOMALY

Low match ATYPICAL HEMOLYTIC-UREMIC SYNDROME WITH THROMBOMODULIN ANOMALY


ATYPICAL HEMOLYTIC-UREMIC SYNDROME WITH THROMBOMODULIN ANOMALY Is also known as d-hus with thrombomodulin anomaly|ahus, susceptibility to, 6|atypical hus with thrombomodulin anomaly|ahus with thrombomodulin anomaly|hemolytic-uremic syndrome without diarrhea with thrombomodulin anomaly

Related symptoms:

  • Anemia
  • Hypertension
  • Renal insufficiency
  • Thrombocytopenia
  • Proteinuria


SOURCES: ORPHANET OMIM MENDELIAN

More info about ATYPICAL HEMOLYTIC-UREMIC SYNDROME WITH THROMBOMODULIN ANOMALY

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Other less relevant matches:

Low match ATYPICAL HEMOLYTIC-UREMIC SYNDROME WITH C3 ANOMALY


ATYPICAL HEMOLYTIC-UREMIC SYNDROME WITH C3 ANOMALY Is also known as ahus with c3 anomaly|hemolytic-uremic syndrome without diarrhea with c3 anomaly|atypical hus with c3 anomaly|d-hus with c3 anomaly|ahus, susceptibility to, 5

Related symptoms:

  • Hypertension
  • Thrombocytopenia
  • Proteinuria
  • Stage 5 chronic kidney disease
  • Hematuria


SOURCES: ORPHANET OMIM MENDELIAN

More info about ATYPICAL HEMOLYTIC-UREMIC SYNDROME WITH C3 ANOMALY

Low match FOCAL SEGMENTAL GLOMERULOSCLEROSIS 3, SUSCEPTIBILITY TO; FSGS3


Focal segmental glomerulosclerosis (FSGS) is a pathologic entity associated clinically with proteinuria, the nephrotic syndrome (NPHS), and progressive loss of renal function. It is a common cause of end-stage renal disease (ESRD) (Meyrier, 2005).For a general phenotypic description and a discussion of genetic heterogeneity of focal segmental glomerulosclerosis and nephrotic syndrome, see FSGS1 (OMIM ).

FOCAL SEGMENTAL GLOMERULOSCLEROSIS 3, SUSCEPTIBILITY TO; FSGS3 Is also known as glomerulosclerosis, focal segmental, 3, susceptibility to

Related symptoms:

  • Failure to thrive
  • Anemia
  • Hypertension
  • Renal insufficiency
  • Proteinuria


SOURCES: OMIM MENDELIAN

More info about FOCAL SEGMENTAL GLOMERULOSCLEROSIS 3, SUSCEPTIBILITY TO; FSGS3

Low match IMMUNOGLOBULIN-MEDIATED MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS


Nephrotic syndrome type 7 is an autosomal recessive renal disease characterized by onset of nephrotic syndrome with proteinuria usually in the first decade of life. The disorder is progressive, and some patients develop end-stage renal disease within several years. Renal biopsy typically shows membranoproliferative glomerulonephritis. Some patients may benefit from immunosuppressive therapy (summary by Ozaltin et al., 2013).Atypical hemolytic uremic syndrome-7 is characterized by acute onset in the first year of life of microangiopathic hemolytic anemia, thrombocytopenia, and renal failure. After the acute episode, most patients develop chronic renal insufficiency. Unlike other genetic forms of aHUS, AHUS7 is not related to abnormal activation of the complement system (summary by Lemaire et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome, see NPHS1 (OMIM ).For a general phenotypic description and a discussion of genetic heterogeneity of aHUS, see AHUS1 (OMIM ).

IMMUNOGLOBULIN-MEDIATED MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS Is also known as ig-mediated mpgn|immunoglobulin-mediated mpgn|ig-mediated membranoproliferative glomerulonephritis|nephrotic syndrome, type 7, with membranoproliferative glomerulonephritis

Related symptoms:

  • Anemia
  • Hypertension
  • Renal insufficiency
  • Thrombocytopenia
  • Proteinuria


SOURCES: ORPHANET OMIM MENDELIAN

More info about IMMUNOGLOBULIN-MEDIATED MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS

Low match HEME OXYGENASE 1 DEFICIENCY; HMOX1D


Related symptoms:

  • Growth delay
  • Anemia
  • Hepatomegaly
  • Fever
  • Proteinuria


SOURCES: OMIM MESH MENDELIAN

More info about HEME OXYGENASE 1 DEFICIENCY; HMOX1D

Low match LESCH-NYHAN SYNDROME


Lesch-Nyhan syndrome (LNS) is the most severe form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency (see this term), a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO), neurological troubles, and behavioral problems.

LESCH-NYHAN SYNDROME Is also known as hypoxanthine guanine phosphoribosyltransferase deficiency, grade iv|hypoxanthine guanine phosphoribosyltransferase complete deficiency|hprt complete deficiency|hprt deficiency grade iv

Related symptoms:

  • Spasticity
  • Anemia
  • Behavioral abnormality
  • Intellectual disability, mild
  • Renal insufficiency


SOURCES: ORPHANET MENDELIAN

More info about LESCH-NYHAN SYNDROME

Low match THROMBOCYTOPENIA 2; THC2


Thrombocytopenia-2 is an autosomal dominant nonsyndromic disorder characterized by decreased numbers of normal platelets, resulting in a mild bleeding tendency. Laboratory studies show no defects in platelet function or morphology, and bone marrow examination shows normal numbers of megakaryocytes and normal maturation stages, suggesting defective platelet production or release (summary by Pippucci et al., 2011).

THROMBOCYTOPENIA 2; THC2 Is also known as thrombocytopenia, autosomal dominant, 2

Related symptoms:

  • Anemia
  • Thrombocytopenia
  • Hydronephrosis
  • Bruising susceptibility
  • Hematuria


SOURCES: OMIM MESH MENDELIAN

More info about THROMBOCYTOPENIA 2; THC2

Low match ATYPICAL HEMOLYTIC-UREMIC SYNDROME WITH MCP/CD46 ANOMALY


ATYPICAL HEMOLYTIC-UREMIC SYNDROME WITH MCP/CD46 ANOMALY Is also known as ahus with mcp/cd46 anomaly|hemolytic-uremic syndrome without diarrhea with mcp/cd46 anomaly|ahus, susceptibility to, 2|atypical hus with mcp/cd46 anomaly|d-hus with mcp/cd46 anomaly

Related symptoms:

  • Hypertension
  • Renal insufficiency
  • Thrombocytopenia
  • Proteinuria
  • Stage 5 chronic kidney disease


SOURCES: OMIM ORPHANET MENDELIAN

More info about ATYPICAL HEMOLYTIC-UREMIC SYNDROME WITH MCP/CD46 ANOMALY

Top 5 symptoms//phenotypes associated to Anemia and Hematuria

Symptoms // Phenotype % cases
Proteinuria Common - Between 50% and 80% cases
Hypertension Common - Between 50% and 80% cases
Thrombocytopenia Common - Between 50% and 80% cases
Microangiopathic hemolytic anemia Common - Between 50% and 80% cases
Acute kidney injury Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Anemia and Hematuria. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Hemolytic-uremic syndrome

Uncommon Symptoms - Between 30% and 50% cases


Renal insufficiency Anuria Increased blood urea nitrogen Elevated serum creatinine Hemolytic anemia Stage 5 chronic kidney disease

Rare Symptoms - Less than 30% cases


Nephrotic syndrome Glomerulosclerosis Focal segmental glomerulosclerosis Microscopic hematuria Hyperuricemia Gout Hydronephrosis Bruising susceptibility Abnormal bleeding Menorrhagia Hepatic failure Autoimmune thrombocytopenia Aplastic anemia Abnormal thrombocyte morphology Increased mean platelet volume Abnormality of movement Portal hypertension Hemiplegia/hemiparesis Thickening of the glomerular basement membrane Intellectual disability, moderate Intellectual disability, mild Behavioral abnormality Spasticity Asplenia Skin rash Fever Hepatomegaly Growth delay Membranoproliferative glomerulonephritis Glomerulopathy Glomerulonephritis Meningitis Chronic kidney disease Failure to thrive Monoclonal immunoglobulin M proteinemia



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