Autoimmunity, and Hematuria

Diseases related with Autoimmunity and Hematuria

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


Top matches:

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 IMMUNE THROMBOCYTOPENIC PURPURA


Immune thrombocytopenic purpura (or immune thrombocytopenia; ITP) is an autoimmune coagulation disorder characterized by isolated thrombocytopenia (a platelet count <100,000/microL), in the absence of any underlying disorder that may be associated with thrombocytopenia.

IMMUNE THROMBOCYTOPENIC PURPURA Is also known as idiopathic thrombocytopenic purpura|immune thrombocytopenia|immune thrombocytopenic purpura|thrombocytopenic purpura, autoimmune|itp

Related symptoms:

  • Immunodeficiency
  • Thrombocytopenia
  • Autoimmunity
  • Bruising susceptibility
  • Hematuria


SOURCES: OMIM ORPHANET MENDELIAN

More info about IMMUNE THROMBOCYTOPENIC PURPURA

Low match COMPLEMENT COMPONENT 3 DEFICIENCY


Complement component 3 deficiency is a rare, genetic, primary immunodeficiency characterized by susceptibility to infection (mainly by gram negative bacteria) due to extremely low C3 plasma levels. Patients typically present recurrent episodes of sinusitis, tonsillitis, and/or otitis, as well as upper and lower respiratory tract infections (including pneumonia) and skin infections, such as erythema multiforme. Autoimmune disease resembling systemic lupus erythematosus and mesangiocapillary or membranoproliferative glomerulonephritis may develop, resulting in renal failure.

COMPLEMENT COMPONENT 3 DEFICIENCY Is also known as c3 deficiency, autosomal recessive|c3 deficiency

Related symptoms:

  • Renal insufficiency
  • Recurrent infections
  • Pneumonia
  • Proteinuria
  • Respiratory tract infection


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about COMPLEMENT COMPONENT 3 DEFICIENCY

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Other less relevant matches:

Low match IMMUNODEFICIENCY WITH FACTOR H ANOMALY


Immunodeficiency with factor H anomaly is a rare, genetic, primary immunodeficiency disease characterized by increased susceptibility to recurrent, usually severe, infections (particularly by Neisseria meningitidis, Escherichia coli, and Haemophilus influenzae), renal impairment and/or autoimmune diseases, typically manifesting with otitis media, bronchitis, meningitis, and/or septicemia, as well as hematuria/proteinuria, asthma, nephrotic syndrome, hemolytic uremic syndrome, glomerulonephritis, and/or systemic lupus erythematosus. Laboratory serum analysis reveals, in addition to factor H deficiency, decreased complement factor B, properin, complement C3 and terminal complement components.

IMMUNODEFICIENCY WITH FACTOR H ANOMALY Is also known as factor h deficiency|cfh deficiency

Related symptoms:

  • Renal insufficiency
  • Thrombocytopenia
  • Proteinuria
  • Abnormality of the kidney
  • Autoimmunity


SOURCES: ORPHANET OMIM MENDELIAN

More info about IMMUNODEFICIENCY WITH FACTOR H ANOMALY

Low match IMMUNODEFICIENCY DUE TO A CLASSICAL COMPONENT PATHWAY COMPLEMENT DEFICIENCY


Immunodeficiency due to a classical component pathway complement deficiency is a primary immunodeficiency due to a deficiency in either complement components C1q, C1r, C1s, C2 or C4 characterized by increased susceptibility to bacterial infections, particularly with encapsulated bacteria, and increased risk for autoimmune disease. Most commonly, these include systemic lupus erythematosus (SLE), SLE-like disease, Henoch-Schonlein purpura, polymyositis and arthralgia. Disease severity is variable and dependent on the complement affected.

IMMUNODEFICIENCY DUE TO A CLASSICAL COMPONENT PATHWAY COMPLEMENT DEFICIENCY Is also known as immunodeficiency due to c1, c4, or c2 component complement deficiency|immunodeficiency due to an early component of complement deficiency

Related symptoms:

  • Pain
  • Cataract
  • Fever
  • Renal insufficiency
  • Immunodeficiency


SOURCES: OMIM ORPHANET MENDELIAN

More info about IMMUNODEFICIENCY DUE TO A CLASSICAL COMPONENT PATHWAY COMPLEMENT DEFICIENCY

Low match IMMUNODEFICIENCY WITH FACTOR I ANOMALY


Immunodeficiency with factor I anomaly is a rare, genetic, primary immunodeficiency disease characterized by increased susceptibility to recurrent, usually severe, infections (particularly by Neisseria meningitidis, Haemophilus influenzae and Streptococcus pneumonia), typically manifesting as otitis, sinusitis, bronchitis, pneumonia, and/or meningitis. Autoimmune disease (e.g. systemic lupus erythematosus, glomerulonephritis) and atypical hemolytic uremic syndrome may be associated. Laboratory serum analysis reveals, in addition to diminished or undetectable complement factor I, variably decreased complement C3, complement factor B and complement factor H.

IMMUNODEFICIENCY WITH FACTOR I ANOMALY Is also known as complement component 3 inactivator deficiency|c3 inactivator deficiency

Related symptoms:

  • Fever
  • Renal insufficiency
  • Recurrent infections
  • Pneumonia
  • Recurrent respiratory infections


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about IMMUNODEFICIENCY WITH FACTOR I ANOMALY

Low match GRAY PLATELET SYNDROME; GPS


The gray platelet syndrome (GPS) is a rare inherited disorder characterized by mild to moderate bleeding tendency, moderate thrombocytopenia, and a marked decrease or absence of platelet alpha-granules and of the proteins contained in alpha-granules. The platelets are enlarged, but not giant, and have a gray appearance on light microscopy of Wright-stained peripheral blood smears due to decreased granules. Many patients with gray platelet syndrome develop a stable myelofibrosis (summary by Nurden and Nurden, 2007).Cases suggesting autosomal dominant and autosomal recessive inheritance have been described, indicating that GPS is probably a genetically heterogeneous disorder with more than one molecular cause.

GRAY PLATELET SYNDROME; GPS Is also known as bleeding disorder, platelet-type, 4|bdplt4|platelet alpha-granule deficiency

Related symptoms:

  • Anemia
  • Splenomegaly
  • Thrombocytopenia
  • Skin rash
  • Bruising susceptibility


SOURCES: OMIM MESH MENDELIAN

More info about GRAY PLATELET SYNDROME; GPS

Low match CONGENITAL FACTOR X DEFICIENCY


Congenital factor X deficiency is an inherited bleeding disorder with a decreased antigen and/or activity of factor X (FX) and characterized by mild to severe bleeding symptoms.

CONGENITAL FACTOR X DEFICIENCY Is also known as f10 deficiency|congenital stuart factor deficiency|stuart-prower factor deficiency

Related symptoms:

  • Respiratory tract infection
  • Abnormality of the liver
  • Bruising susceptibility
  • Hematuria
  • Abnormal bleeding


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL FACTOR X DEFICIENCY

Low match CONGENITAL THROMBOTIC THROMBOCYTOPENIC PURPURA


Congenital thrombotic thrombocytopenic purpura is the hereditary form of thrombotic thrombocytopenic purpura (TTP; see this term) characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and single or multiple organ failure of variable severity.

CONGENITAL THROMBOTIC THROMBOCYTOPENIC PURPURA Is also known as congenital ttp|microangiopathic hemolytic anemia|thrombotic microangiopathy, familial|microangiopathic hemolytic anemia, congenital|congenital adamts-13 deficiency|upshaw factor, deficiency of|uss|thrombotic thrombocytopenic purpura, familial|familial ttp

Related symptoms:

  • Seizures
  • Pain
  • Anemia
  • Hypertension
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL THROMBOTIC THROMBOCYTOPENIC PURPURA

Low match ACQUIRED PARTIAL LIPODYSTROPHY


Acquired partial lipodystrophy, or Barraquer-Simons syndrome, is characterised by the association of lipoatrophy of the upper part of the body and lipohypertrophy of the thighs.

ACQUIRED PARTIAL LIPODYSTROPHY Is also known as apld, susceptibility to|progressive cephalothoracic lipodystrophy|barraquer-simons syndrome|lipodystrophy, cephalothoracic type|lipodystrophy, partial, progressive

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Hypertension
  • Myopathy


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ACQUIRED PARTIAL LIPODYSTROPHY

Top 5 symptoms//phenotypes associated to Autoimmunity and Hematuria

Symptoms // Phenotype % cases
Glomerulonephritis Common - Between 50% and 80% cases
Proteinuria Common - Between 50% and 80% cases
Thrombocytopenia Uncommon - Between 30% and 50% cases
Renal insufficiency Uncommon - Between 30% and 50% cases
Abnormal bleeding Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Skin rash Autoimmune thrombocytopenia Microscopic hematuria Bruising susceptibility Recurrent infections Systemic lupus erythematosus Membranoproliferative glomerulonephritis Purpura Pneumonia Decreased serum complement C3 Respiratory tract infection Recurrent bacterial infections Hemolytic-uremic syndrome Nephrotic syndrome Nephritis Anemia Meningitis Nephropathy Epistaxis Menorrhagia Immunodeficiency Gastrointestinal hemorrhage Fever

Rare Symptoms - Less than 30% cases


Arthralgia Glomerulopathy Lipodystrophy Decreased serum complement factor H IgA deposition in the glomerulus Decreased serum complement factor I Hypertension Pain Seizures Chronic kidney disease Vasculitis Macroscopic hematuria Mesangial hypercellularity Sepsis Otitis media Petechiae Gingival bleeding Erythema Platelet antibody positive Abnormal thrombocyte morphology Sinusitis Tonsillitis Abnormality of the kidney Hyperbilirubinemia Pallor Hemiparesis Increased serum lactate Coma Hemolytic anemia Nausea Confusion Nausea and vomiting Personality changes Paralysis Headache Jaundice Abdominal pain Arrhythmia Prolonged neonatal jaundice Diarrhea Vomiting Respiratory distress Fatigue Tremor Loss of truncal subcutaneous adipose tissue Progressive loss of facial adipose tissue Reduced factor X activity Lupus anticoagulant Hyperkalemia Abnormal renal physiology Acute kidney injury Alopecia Premature ovarian insufficiency Generalized hirsutism Insulin resistance Antiphospholipid antibody positivity Hypertrichosis Lipoatrophy Hypertriglyceridemia Hepatic steatosis Hirsutism Abnormality of lipid metabolism Diabetes mellitus Progeroid facial appearance Reticulocytosis Myopathy Hearing impairment Intellectual disability Lymphocytosis Schistocytosis Microangiopathic hemolytic anemia Increased blood urea nitrogen Bloody diarrhea Neonatal hyperbilirubinemia Polycystic ovaries Preeclampsia Elevated serum creatinine Intramuscular hematoma Recurrent Haemophilus influenzae infections Spontaneous hematomas Cataract Recurrent sinusitis Recurrent skin infections Recurrent urinary tract infections Recurrent otitis media Arthritis Recurrent respiratory infections Loss of eyelashes Discoid lupus rash Facial erythema Keratitis Hepatitis Depletion of components of the alternative complement pathway Septic arthritis Glomerular subendothelial electron-dense deposits Thickening of the glomerular basement membrane Drusen Recurrent lower respiratory tract infections Psychosis Stage 5 chronic kidney disease Arterial thrombosis Thromboembolism Cerebral hemorrhage Increased mean platelet volume Aplastic anemia Hydronephrosis Pyelonephritis Recurrent streptococcus pneumoniae infections Joint hemorrhage Absence of alpha granules Prolonged prothrombin time Prolonged partial thromboplastin time Amyloidosis Arthropathy Abnormality of the musculature Abnormality of coagulation Abnormality of the coagulation cascade Intracranial hemorrhage Abnormality of the liver Reduced quantity of Von Willebrand factor Impaired thrombin-induced platelet aggregation Reduced von Willebrand factor activity Impaired collagen-induced platelet aggregation Recurrent meningococcal disease Decreased platelet glycoprotein IIb-IIIa Internal hemorrhage Myelofibrosis Myeloproliferative disorder Extramedullary hematopoiesis Ecchymosis Deep venous thrombosis Prolonged bleeding time Splenomegaly Glomerular deposits Decreased serum complement factor B Recurrent meningitis Loss of subcutaneous adipose tissue from upper limbs



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