Leukemia, and Hemolytic anemia

Diseases related with Leukemia and Hemolytic anemia

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

Top matches:

MN antigens reside on GYPA, one of the most abundant red-cell glycoproteins. The M and N antigens are 2 autosomal codominant antigens encoded by the first 5 amino acids of GYPA and include 3 O-linked glycans as part of the epitope. M and N differ at amino acids 1 and 5, where M is ser-ser-thr-thr-gly, and N is leu-ser-thr-thr-glu. M is the ancestral GYPA allele and is common in all human populations and Old World apes. GYPA, glycophorin B (GYPB ), and glycophorin E (GYPE ) are closely linked on chromosome 4q31. The N terminus of GYPB is essentially identical to that of GYPA except that it always expresses the N antigen, denoted 'N' or N-prime. Antigens of the Ss blood group (OMIM ) reside on GYPB, and recombination and gene conversion between GYPA, GYPB, and GYPE lead to hybrid glycophorin molecules and generation of low-incidence antigens. Thus, the MN and Ss blood groups are together referred to as the MNSs or MNS blood group system. The U antigen refers to a short extracellular sequence in GYPB located near the membrane. Recombination results in 3 glycophorin-null phenotypes: En(a-) cells lack GYPA due to recombination between GYPA and GYPB; GYPB-negative (S-s-U-) cells lack GYPB due to recombination in GYPB; and M(k) cells (M-N-S-s-U-) lack both GYPA and GYPB due to recombination between GYPA and GYPE. Individuals with glycophorin-null phenotypes have decreased sialic acid content and increased resistance to malarial infection (see {611162}). GYPA and GYPB are not essential for red-cell development or survival, and GYPA- and GYPB-null phenotypes are not associated with anemia or altered red-cell function (review by Cooling, 2015).

BLOOD GROUP, MN; MN Is also known as mn blood group

Related symptoms:

  • Neoplasm
  • Anemia
  • Leukemia


SOURCES: OMIM MENDELIAN

More info about BLOOD GROUP, MN; MN

Polyagglutination refers to red blood cells that agglutinate upon exposure to almost all human sera, but not to autologous serum or the sera of newborns. The condition becomes apparent during blood typing and cross-matching in the laboratory (summary by Beck, 2000).Tn polyagglutination syndrome is an acquired clonal disorder characterized by the polyagglutination of red blood cells by naturally occurring anti-Tn antibodies following exposure of the Tn antigen on the surface of erythrocytes. Only a subset of red cells express the antigen, which can also be expressed on platelets and leukocytes. This condition may occur in healthy individuals who manifest asymptomatic anemia, leukopenia, or thrombocytopenia; however, there is also an association between the Tn antigen and leukemia or myelodysplastic disorders. The Tn antigen is an incompletely glycosylated membrane glycoprotein with an exposed N-acetylgalactosamine residue. The Tn antigen results from inactivation of C1GALT1C1, which encodes a chaperone required for the correct functioning of T-synthetase (C1GALT1 ), an enzyme essential for the correct biosynthesis of O-glycans. Absence of active T-synthetase results in exposure of GalNAc residues, with a proportion of these residues becoming sialylated and forming a sialyl-Tn antigen (summary by Vainchenker et al., 1985 and Crew et al., 2008).

TN POLYAGGLUTINATION SYNDROME; TNPS Is also known as galactosyltransferase deficiency

Related symptoms:

  • Anemia
  • Thrombocytopenia
  • Autoimmunity
  • Leukemia
  • Hemolytic anemia


SOURCES: MESH OMIM MENDELIAN

More info about TN POLYAGGLUTINATION SYNDROME; TNPS

Ss blood group antigens reside on the red-cell glycoprotein GYPB. The S and s antigens result from a polymorphism at amino acid 29 of GYPB, where S has met29 and s has thr29. The U antigen refers to a short extracellular sequence in GYPB located near the membrane. GYPB, glycophorin A (GYPA ), and glycophorin E (GYPE ) are closely linked on chromosome 4q31. Antigens of the MN blood group (OMIM ) reside on GYPA. The M and N antigens differ at amino acids 1 and 5 of GYPA, where M is ser-ser-thr-thr-gly, and N is leu-ser-thr-thr-glu. The N terminus of GYPB is essentially identical to that of GYPA except that it always expresses the N antigen, denoted 'N' or N-prime. Recombination and gene conversion between GYPA, GYPB, and GYPE lead to hybrid glycophorin molecules and generation of low-incidence antigens. Thus, the MN and Ss blood groups are together referred to as the MNSs blood group system (see {111300}). Recombination results in 3 glycophorin-null phenotypes: En(a-) cells lack GYPA due to recombination between GYPA and GYPB; GYPB-negative (S-s-U-) cells lack GYPB due to recombination in GYPB; and M(k) cells (M-N-S-s-U-) lack both GYPA and GYPB due to recombination between GYPA and GYPE. Individuals with glycophorin-null phenotypes have decreased sialic acid content and increased resistance to malarial infection (see {611162}). GYPA and GYPB are not essential for red-cell development or survival, and GYPA- and GYPB-null phenotypes are not associated with anemia or altered red-cell function (review by Cooling, 2015).

BLOOD GROUP, SS; SS Is also known as ss blood group

Related symptoms:

  • Neoplasm
  • Anemia


SOURCES: OMIM MENDELIAN

More info about BLOOD GROUP, SS; SS

Other less relevant matches:

Beta-thalassemia - X-linked thrombocytopenia is a form of beta-thalassemia (see this term) characterized by splenomegaly and petechiae, moderate thrombocytopenia, prolonged bleeding time due to platelet dysfunction, reticulocytosis and mild beta-thalassemia.

BETA-THALASSEMIA-X-LINKED THROMBOCYTOPENIA SYNDROME Is also known as xltt|thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis

Related symptoms:

  • Anemia
  • Splenomegaly
  • Thrombocytopenia
  • Leukemia
  • Bruising susceptibility


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about BETA-THALASSEMIA-X-LINKED THROMBOCYTOPENIA SYNDROME

Paroxysmal nocturnal hemoglobinuria (PNH) is an uncommon acquired hemolytic anemia that often manifests with hemoglobinuria, abdominal pain, smooth muscle dystonias, fatigue, and thrombosis. The disease results from the expansion of hematopoietic stem cells harboring a mutation in the PIGA gene, which encodes a protein required for the biosynthesis of glycosylphosphatidylinositol (GPI), a lipid moiety that attaches dozens of proteins to the cell surface. Thus, PNH cells are deficient in cell surface GPI-anchored proteins. This deficiency on erythrocytes leads to intravascular hemolysis, since certain GPI-anchored proteins (i.e., CD55 (OMIM ) and CD59 (OMIM )) normally function as complement regulators. Free hemoglobin released from intravascular hemolysis leads to circulating nitrous oxide depletion and is responsible for many of the clinical manifestations of PNH, including fatigue, erectile dysfunction, esophageal spasm, and thrombosis (review by Brodsky, 2008). Genetic Heterogeneity of Paroxysmal Nocturnal HemoglobinuriaSee also PNH2 (OMIM ), which may be caused by germline and somatic mutation in the PIGT gene (OMIM ) on chromosome 20q13.

Related symptoms:

  • Pain
  • Anemia
  • Fatigue
  • Respiratory distress
  • Thrombocytopenia


SOURCES: OMIM MENDELIAN

More info about PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 1; PNH1

Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired clonal hematopoietic stem cell disorder characterized by corpuscular hemolytic anemia, bone marrow failure and frequent thrombotic events.

PAROXYSMAL NOCTURNAL HEMOGLOBINURIA Is also known as marchiafava-micheli disease|pnh

Related symptoms:

  • Muscle weakness
  • Fatigue
  • Dysphagia
  • Abdominal pain
  • Pallor


SOURCES: ORPHANET OMIM MENDELIAN

More info about PAROXYSMAL NOCTURNAL HEMOGLOBINURIA

RAS-associated autoimmune leukoproliferative disease (RALD) is a rare genetic disorder characterized by monocytosis, autoimmune cytopenias, lymphoproliferation, hepatosplenomegaly, and hypergammaglobulinemia.

RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISEASE Is also known as alps4|rald|autoimmune lymphoproliferative syndrome, type iv

Related symptoms:

  • Anemia
  • Hepatomegaly
  • Fever
  • Splenomegaly
  • Recurrent infections


SOURCES: ORPHANET OMIM MENDELIAN

More info about RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISEASE

Autoimmune lymphoproliferative syndrome (ALPS) is a rare, inherited disorder characterized by non-malignant lymphoproliferation, multilineage cytopenias, and a lifelong increased risk of Hodgkin's and non-Hodgkin's lymphoma.

AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME Is also known as alps|autoimmune lymphoproliferative syndrome, type i, autosomal dominant|fas deficiency|canale-smith syndrome

Related symptoms:

  • Neoplasm
  • Anemia
  • Hepatomegaly
  • Edema
  • Splenomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME

Infantile-onset multisystem autoimmune disease-1 is characterized by early childhood onset of a spectrum of autoimmune disorders affecting multiple organs. Common manifestations include insulin-dependent diabetes mellitus and autoimmune enteropathy, or celiac disease, and autoimmune hematologic disorders. Other features include short stature and nonspecific dermatitis. More variable features include hypothyroidism, autoimmune arthritis, and delayed puberty. Some patients may show recurrent infections. The disorder results from an inborn error of cytokine signaling (summary by Flanagan et al., 2014 and Milner et al., 2015). Genetic Heterogeneity of Infantile-Onset Multisystem Autoimmune DiseaseSee also ADMIO2 (OMIM ), caused by mutation in the ZAP70 gene (OMIM ) on chromosome 2q12.

Related symptoms:

  • Short stature
  • Pain
  • Anemia
  • Abnormality of the dentition
  • Immunodeficiency


SOURCES: OMIM ORPHANET MENDELIAN

More info about STAT3-RELATED EARLY-ONSET MULTISYSTEM AUTOIMMUNE DISEASE

Zur Stadt et al. (2005) summarized the clinical features of hemophagocytic lymphohistiocytosis (HLH), a rare autosomal recessive disorder characterized by massive infiltration of several organs by activated lymphocytes and macrophages. The clinical features of the disease include fever, hepatosplenomegaly, cytopenia, and less frequently central nervous system involvement. In FHL, the familial form of the disease, first episodes occur mostly during infancy, with a rapidly fatal outcome if untreated. Diagnostic criteria also include low fibrinogen and high triglyceride and ferritin levels. Chemoimmunotherapy based on corticosteroids, epipodophyllotoxins, and cyclosporin succeeds in controlling the disease in the majority of patients, although remission is rarely obtained (Henter et al., 2002). Most patients suffer an early death unless they are treated by hematopoietic stem cell transplantation (Durken et al., 1999). Genetic Heterogeneity of Familial Hemophagocytic LymphohistiocytosisFamilial hemophagocytic lymphohistiocytosis exhibits genetic heterogeneity. In some families, familial hemophagocytic lymphohistiocytosis has been found to be linked to chromosome 9q (HPLH1, FHL1). FHL2 (OMIM ) is caused by mutation in the PRF1 gene (OMIM ) on chromosome 10q22; FHL3 (OMIM ) is caused by mutation in the UNC13D gene (OMIM ) on chromosome 17q25; FHL4 (OMIM ) is caused by mutation in the syntaxin-11 gene (STX11 ) on chromosome 6q24; and FHL5 (OMIM ) is caused by mutation in the syntaxin-binding protein-2 (STXBP2 ), which is an interaction partner of STX11, on chromosome 19p13.Furthermore, before the identification of mutations in the RAG1 (OMIM ) and RAG2 (OMIM ) genes, both of which map to 11p, Omenn syndrome (familial reticuloendotheliosis with eosinophilia; {603554}) was not thought to be clearly distinct from other reported cases of hemophagocytic lymphohistiocytosis.

HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 1; FHL1 Is also known as hemophagocytic reticulosis, familial|hlh1|hemophagocytic lymphohistiocytosis, familial|erythrophagocytic lymphohistiocytosis, familial|reticulosis, familial histiocytic|hplh1|fhl|fhlh|hplh|fel

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Neoplasm


SOURCES: OMIM MENDELIAN

More info about HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 1; FHL1

Top 5 symptoms//phenotypes associated to Leukemia and Hemolytic anemia

Symptoms // Phenotype % cases
Anemia Very Common - Between 80% and 100% cases
Thrombocytopenia Common - Between 50% and 80% cases
Neoplasm Uncommon - Between 30% and 50% cases
Pancytopenia Uncommon - Between 30% and 50% cases
Splenomegaly Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Leukemia and Hemolytic anemia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Lymphadenopathy Hepatosplenomegaly Autoimmune thrombocytopenia Autoimmune hemolytic anemia Increased antibody level in blood Purpura Lymphoma Hepatomegaly Recurrent infections Autoimmunity

Rare Symptoms - Less than 30% cases

Lymphocytosis Neutropenia Generalized edema Petechiae Follicular hyperplasia Fever Recurrent respiratory infections Respiratory tract infection Hemoglobinuria Aplastic anemia Acute leukemia Skin rash Abnormal bleeding Myelodysplasia Eosinophilia Decreased lymphocyte apoptosis Pallor Abdominal pain Vasculitis Fatigue Pain Immunodeficiency Leukopenia Jaundice Coma Abnormality of the nervous system Hepatic failure Elevated hepatic transaminase Confusion Irritability Abnormality of the liver Hypertonia Encephalopathy T-cell lymphoma Muscular hypotonia Interstitial pulmonary abnormality Arthritis Delayed puberty Decreased antibody level in blood Eczema Inflammatory abnormality of the skin Abnormal lung morphology Lymphopenia Type I diabetes mellitus Abnormal intestine morphology Colitis Failure to thrive Celiac disease Scleroderma Atopic dermatitis Recurrent ear infections Primary hypothyroidism Interstitial pneumonitis Global developmental delay Generalized hypotonia Ataxia Seizures Gliosis Tetraplegia Prolonged partial thromboplastin time Episodic fever Severe combined immunodeficiency Pulmonary infiltrates Increased CSF protein Increased serum ferritin Hypoproteinemia Increased VLDL cholesterol concentration Decreased HDL cholesterol concentration Abnormality of the coagulation cascade Prolonged prothrombin time Cellular immunodeficiency Histiocytosis Hemophagocytosis Increased LDL cholesterol concentration Partial albinism Increased total bilirubin Combined immunodeficiency Albinism Lipogranulomatosis Peripheral demyelination Plasmacytosis Sepsis Polyneuritis Granulocytopenia CSF pleocytosis Hypofibrinogenemia Hypothyroidism Hypertriglyceridemia Hyponatremia Aspiration Meningitis Hyperbilirubinemia Increased intracranial pressure Encephalitis Hypoalbuminemia Hemiplegia Arthralgia Increased IgA level Diabetes mellitus Bone marrow hypocellularity Abnormality of coagulation Paroxysmal nocturnal hemoglobinuria Muscle weakness Dysphagia Pulmonary arterial hypertension Myocardial infarction Acute myeloid leukemia Venous thrombosis Thromboembolism Pulmonary embolism Transient ischemic attack Hypercoagulability Angina pectoris Abnormal renal physiology Abnormal thrombosis Impotence Tachycardia Cerebral artery stenosis Microcytic anemia Abnormal erythrocyte morphology Bruising susceptibility Hirsutism Postural instability Epistaxis Prolonged bleeding time Reticulocytosis Respiratory distress Abnormal hemoglobin Decreased mean corpuscular volume Myeloproliferative disorder Increased mean platelet volume Abnormal platelet function Transient myeloproliferative syndrome Absence of alpha granules Hypoplastic anemia Cardiac arrest Pneumonia Coombs-positive hemolytic anemia Increased IgM level Autoimmune neutropenia Reduced delayed hypersensitivity Increased IgG level Cervical lymphadenopathy Rheumatoid factor positive Platelet antibody positive Chronic noninfectious lymphadenopathy Antineutrophil antibody positivity Smooth muscle antibody positivity Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells Increased proportion of HLA DR+ T cells Intermediate uveitis Short stature Abnormality of the dentition Antiphospholipid antibody positivity Extramedullary hematopoiesis Recurrent upper respiratory tract infections Urticaria Lymphoproliferative disorder Monocytosis Edema Renal insufficiency Carcinoma Hepatitis Glomerulonephritis Chronic lymphatic leukemia Basal cell carcinoma Iron deficiency anemia Hodgkin lymphoma Uveitis Hepatocellular carcinoma Antinuclear antibody positivity Multiple myeloma Abnormal natural killer cell physiology


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