Autoimmunity, and Abnormal bleeding

Diseases related with Autoimmunity and Abnormal bleeding

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

Top matches:

Low match SCOTT SYNDROME

Scott syndrome is an extremely rare congenital hemorrhagic disorder characterized by hemorrhagic episodes due to impaired platelet coagulant activity.

SCOTT SYNDROME Is also known as bleeding abnormality due to deficiency of platelet binding of factor x|prothrombin consumption inhibitor, familial|bleeding disorder, platelet-type, 7|bdplt7|prothrombin consumption deficiency|prothrombin conversion defect, familial

Related symptoms:

  • Abnormal bleeding
  • Epistaxis
  • Systemic lupus erythematosus
  • Intramuscular hematoma
  • Hyphema


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SCOTT SYNDROME

A condition characterized by the congenital or acquired deficiency of prekallikrein. This deficiency is usually not associated with bleeding. The congenital deficiency is very rare. Acquired deficiency may occur in diffuse intravascular coagulation, infections, and sickle cell disease.

CONGENITAL PREKALLIKREIN DEFICIENCY Is also known as pkk deficiency|fletcher factor deficiency

Related symptoms:

  • Autoimmunity
  • Arthrogryposis multiplex congenita
  • Abnormal bleeding
  • Prolonged partial thromboplastin time
  • Graves disease


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CONGENITAL PREKALLIKREIN DEFICIENCY

Autoimmune interstitial lung, joint, and kidney disease is an autosomal dominant systemic autoimmune disorder characterized by interstitial lung disease, inflammatory arthritis, and immune complex-mediated renal disease. Laboratory studies show high-titer autoantibodies. Symptoms appear in the first 2 decades of life, but there is incomplete penetrance (summary by Watkin et al., 2015).

AUTOIMMUNE INTERSTITIAL LUNG DISEASE-ARTHRITIS SYNDROME Is also known as copa syndrome

Related symptoms:

  • Pain
  • Respiratory distress
  • Arthralgia
  • Arthritis
  • Abnormality of the kidney


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOIMMUNE INTERSTITIAL LUNG DISEASE-ARTHRITIS SYNDROME

Other less relevant matches:

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 HELLP SYNDROME

Preeclampsia, which along with chronic hypertension and gestational hypertension comprise the hypertensive disorders of pregnancy, is characterized by new hypertension (blood pressure 140/90 or greater) presenting after 20 weeks' gestation with clinically relevant proteinuria. Preeclampsia is 1 of the top 4 causes of maternal mortality and morbidity worldwide (summary by Payne et al., 2011).Preeclampsia is otherwise known as gestational proteinuric hypertension (Davey and MacGillivray, 1988). A high proportion of patients with preeclampsia have glomerular endotheliosis, the unique histopathologic feature of the condition (Fisher et al., 1981). A distinct form of severe preeclampsia is characterized by hemolysis, elevated liver enzymes, and low platelets (HELLP syndrome) (Brown et al., 2000). Genetic Heterogeneity of Preeclampsia/EclampsiaSusceptibility loci for preeclampsia/eclampsia include PEE1 on chromosome 2p13, PEE2 (OMIM ) on chromosome 2p25, and PEE3 (OMIM ) on chromosome 9p13. PEE4 (OMIM ) is caused by mutation in the STOX1 gene (OMIM ) on chromosome 10q22. PEE5 (OMIM ) is caused by mutation in the CORIN gene (OMIM ) on chromosome 4p12. An association with PEE has been found with the EPHX1 gene (OMIM ) on chromosome 1q.

HELLP SYNDROME Is also known as hemolysis-elevated liver enzymes-low platelets syndrome|toxemia of pregnancy|hemolysis, elevated liver enzymes, low platelets in pregnancy|preg1|pee

Related symptoms:

  • Seizures
  • Hypertension
  • Intrauterine growth retardation
  • Edema
  • Renal insufficiency


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about HELLP SYNDROME

COMPLEMENT COMPONENT 4B DEFICIENCY; C4BD Is also known as c4b deficiency

Related symptoms:

  • Hypertension
  • Thrombocytopenia
  • Diabetes mellitus
  • Hepatitis
  • Nephrotic syndrome


SOURCES: OMIM MENDELIAN

More info about COMPLEMENT COMPONENT 4B DEFICIENCY; C4BD

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

COMPLEMENT COMPONENT 4A DEFICIENCY; C4AD Is also known as c4a deficiency

Related symptoms:

  • Hypertension
  • Diabetes mellitus
  • Hepatitis
  • Nephrotic syndrome
  • Cutaneous photosensitivity


SOURCES: MESH OMIM MENDELIAN

More info about COMPLEMENT COMPONENT 4A DEFICIENCY; C4AD

Type 1 von Willebrand disease (type 1 VWD) is a form of VWD (see this term) characterized by a bleeding disorder associated with a partial quantitative plasmatic deficiency of an otherwise structurally and functionally normal Willebrand factor (von Willebrand factor; VWF).

VON WILLEBRAND DISEASE TYPE 1 Is also known as von willebrand disease, type i|vwd, type 1

Related symptoms:

  • Autoimmunity
  • Bruising susceptibility
  • Gastrointestinal hemorrhage
  • Mitral valve prolapse
  • Epistaxis


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about VON WILLEBRAND DISEASE TYPE 1

COMPLEMENT COMPONENT 2 DEFICIENCY; C2D Is also known as c2 deficiency

Related symptoms:

  • Hypertension
  • Renal insufficiency
  • Immunodeficiency
  • Recurrent infections
  • Arthralgia


SOURCES: OMIM MENDELIAN

More info about COMPLEMENT COMPONENT 2 DEFICIENCY; C2D

Top 5 symptoms//phenotypes associated to Autoimmunity and Abnormal bleeding

Symptoms // Phenotype % cases
Systemic lupus erythematosus Uncommon - Between 30% and 50% cases
Hypertension Uncommon - Between 30% and 50% cases
Thrombocytopenia Uncommon - Between 30% and 50% cases
Purpura Uncommon - Between 30% and 50% cases
Bruising susceptibility Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Glomerulonephritis Epistaxis

Rare Symptoms - Less than 30% cases

Hematuria Menorrhagia Autoimmune thrombocytopenia Immunodeficiency Gastrointestinal hemorrhage Renal insufficiency Cerebral hemorrhage Chronic active hepatitis Complement deficiency Diabetes mellitus Hepatitis Nephrotic syndrome Vasculitis Meningitis Arthritis Arthralgia Abnormality of the genitourinary system Petechiae Discoid lupus rash Angioedema Membranoproliferative glomerulonephritis Antinuclear antibody positivity Fatigable weakness Decreased serum complement C4b Rheumatoid arthritis Leukemia Skin rash Recurrent infections Aortic valve stenosis Thromboembolism Gingival bleeding Arterial thrombosis Platelet antibody positive Prolonged whole-blood clotting time Gastrointestinal angiodysplasia Prolonged bleeding after surgery Reduced factor VIII activity Cutaneous photosensitivity Joint hemorrhage Impaired platelet aggregation Prolonged bleeding time Mitral valve prolapse Proteinuria Maternal hypertension Interstitial pulmonary abnormality Intramuscular hematoma Hyphema Factor X activation deficiency Arthrogryposis multiplex congenita Prolonged partial thromboplastin time Graves disease Pain Respiratory distress Abnormality of the kidney Cough Abnormal lung morphology Tachypnea Elevated erythrocyte sedimentation rate Pathologic fracture Eclampsia Abnormal joint morphology Aseptic necrosis Pulmonary hemorrhage Crescentic glomerulonephritis Anemia Hydronephrosis Aplastic anemia Abnormal thrombocyte morphology Increased mean platelet volume Seizures Intrauterine growth retardation Edema Elevated hepatic transaminase Preeclampsia Vasculitis in the skin


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