Leukemia, and Eosinophilia

Diseases related with Leukemia and Eosinophilia

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

Top matches:

Medium match BLOOD GROUP, MN; MN

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

MYELOPROLIFERATIVE DISORDER, CHRONIC, WITH EOSINOPHILIA Is also known as mpe|emp|eosinophils, malignant proliferation of

Related symptoms:

  • Eosinophilia
  • Myeloproliferative disorder
  • Malignant eosinophil proliferation


SOURCES: OMIM MESH MENDELIAN

More info about MYELOPROLIFERATIVE DISORDER, CHRONIC, WITH EOSINOPHILIA

Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement is a rare, malignant, neoplastic disease characterized by clonal proliferation of myeloid and/or lymphoid precursors harboring translocations or insertions involving the chromosome band 8p11 and the FGFR1 gene, in the blood, bone marrow and often other tissues as well (spleen, liver, lymph nodes, breast, etc.). It usually presents as myeloproliferative neoplasm with eosinophilia, T lymphoblastic lymphoma with eosinophilia or, less frequently, acute myeloid leukemia. The presenting signs and symptoms include eosinophilia, leukocytosis with leukemoid reaction, monocytosis, fatigue, sweating, weight loss, lymphadenopathy, splenomegaly and/or hepatomegaly. Extranodal involvement may include the tonsils, lungs and breasts.

MYELOID/LYMPHOID NEOPLASM ASSOCIATED WITH FGFR1 REARRANGEMENT Is also known as 8p11 myeloproliferative syndrome|scll|stem cell leukemia/lymphoma

Related symptoms:

  • Leukemia
  • Lymphoma
  • Eosinophilia
  • Myeloid leukemia
  • Acute myeloid leukemia


SOURCES: ORPHANET OMIM MENDELIAN

More info about MYELOID/LYMPHOID NEOPLASM ASSOCIATED WITH FGFR1 REARRANGEMENT

Other less relevant matches:

Systemic mastocytosis with an associated clonal hematological non-mast cell lineage disease is a form of systemic mastocytosis (SM) associated with malignancy (other than mast cell leukemia).

SYSTEMIC MASTOCYTOSIS WITH AN ASSOCIATED CLONAL HEMATOLOGIC NON-MAST CELL LINEAGE DISEASE Is also known as systemic mastocytosis with associated hematologic neoplasm|sm-ahnmd|sm-ahn

Related symptoms:

  • Eosinophilia
  • Myelodysplasia
  • Acute myeloid leukemia
  • Chronic myelogenous leukemia
  • Non-Hodgkin lymphoma


SOURCES: ORPHANET MENDELIAN

More info about SYSTEMIC MASTOCYTOSIS WITH AN ASSOCIATED CLONAL HEMATOLOGIC NON-MAST CELL LINEAGE DISEASE

PRIMARY HYPEREOSINOPHILIC SYNDROME Is also known as neoplastic hypereosinophilic syndrome|hes-m|primary hes|hes-n|clonal hypereosinophilic syndrome

Related symptoms:

  • Anemia
  • Splenomegaly
  • Thrombocytopenia
  • Leukemia
  • Bone marrow hypocellularity


SOURCES: ORPHANET MENDELIAN

More info about PRIMARY HYPEREOSINOPHILIC SYNDROME

Related symptoms:

  • Hepatomegaly
  • Splenomegaly
  • Myalgia
  • Abnormality of the nervous system
  • Pruritus


SOURCES: ORPHANET OMIM MENDELIAN

More info about CHRONIC EOSINOPHILIC LEUKEMIA

Medium match CYCLIC NEUTROPENIA

Severe congenital neutropenia is a heterogeneous disorder of hematopoiesis characterized by a maturation arrest of granulopoiesis at the level of promyelocytes with peripheral blood absolute neutrophil counts below 0.5 x 10(9)/l and early onset of severe bacterial infections (Skokowa et al., 2007). About 60% of affected individuals of European and Middle Eastern ancestry have dominant ELANE mutations, resulting in a form of severe congenital neutropenia, which is designated here as SCN1. Genetic Heterogeneity of Severe Congenital NeutropeniaSevere congenital neutropenia is a genetically heterogeneous disorder showing autosomal dominant, autosomal recessive, and X-linked inheritance. Another autosomal dominant form, SCN2 (OMIM ), is caused by mutation in the protooncogene GFI1 (OMIM ) on 1p22. Autosomal recessive forms include SCN3 (OMIM ), caused by mutation in the HAX1 gene (OMIM ) on 1q21; SCN4 (OMIM ), caused by mutation in the G6PC3 gene (OMIM ) on 17q21; SCN5 (OMIM ), caused by mutation in the VPS45 gene (OMIM ) on 1q21; SCN6 (OMIM ), caused by mutation in the JAGN1 gene (OMIM ) on 3p25; and SCN7 (OMIM ) is caused by mutation in the CSF3R gene (OMIM ) on 1p34. X-linked SCN (SCNX ) is caused by mutation in the WAS gene (OMIM ) on Xp11.See also adult chronic idiopathic nonimmune neutropenia (OMIM ) and chronic benign familial neutropenia (OMIM ). Susceptibility to Myelodysplastic Syndrome/Acute Myeloid LeukemiaSCN patients with acquired mutations in the granulocyte colony-stimulating factor receptor (CSF3R ) in hematopoietic cells define a group with high risk for progression to myelodysplastic syndrome and/or acute myeloid leukemia. Approximately 80% of SCN patients who develop AML are heterozygous for somatic CSF3R mutations (summary by Klimiankou et al., 2016).

CYCLIC NEUTROPENIA Is also known as cyclic hematopoiesis

Related symptoms:

  • Anemia
  • Fatigue
  • Thrombocytopenia
  • Recurrent respiratory infections
  • Abdominal pain


SOURCES: OMIM ORPHANET MENDELIAN

More info about CYCLIC NEUTROPENIA

Severe congenital neutropenia-3 is an autosomal recessive bone marrow failure disorder characterized by low numbers of neutrophils, increased susceptibility to bacterial and fungal infections, and increased risk of developing myelodysplastic syndrome or acute myeloid leukemia. In addition, patients with HAX1 mutations affecting both isoform A and B of the gene develop neurologic abnormalities (summary by Boztug et al., 2010).The Swedish physician Rolf Kostmann (1956) described an autosomal recessive hematologic disorder, termed infantile agranulocytosis, with severe neutropenia with an absolute neutrophil count below 0.5 x 10(9)/l and early onset of severe bacterial infections. The disorder was later termed Kostmann syndrome (Skokowa et al., 2007). Lekstrom-Himes and Gallin (2000) discussed severe congenital neutropenia in a review of immunodeficiencies caused by defects in phagocytes.In addition to Kostmann agranulocytosis, recessively inherited neutropenic syndromes include congenital neutropenia with eosinophilia (OMIM ), Chediak-Higashi syndrome (OMIM ), and Fanconi pancytopenic syndrome (see {227650}).For a phenotypic description and a discussion of genetic heterogeneity of severe congenital neutropenia, see SCN1 (OMIM ).

NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE; SCN3 Is also known as agranulocytosis, infantile|kostmann disease

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE; SCN3

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

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 Eosinophilia

Symptoms // Phenotype % cases
Anemia Uncommon - Between 30% and 50% cases
Thrombocytopenia Uncommon - Between 30% and 50% cases
Acute myeloid leukemia Uncommon - Between 30% and 50% cases
Increased antibody level in blood Uncommon - Between 30% and 50% cases
Splenomegaly Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Mastocytosis Hepatomegaly Lymphadenopathy Sepsis Neoplasm Hepatosplenomegaly Myelodysplasia Myeloid leukemia Lymphoma Myeloproliferative disorder Abnormality of the nervous system

Rare Symptoms - Less than 30% cases

Pulmonary infiltrates Recurrent bacterial infections Monocytosis Neutropenia Thrombocytosis Meningitis Hemolytic anemia Seizures Ataxia Global developmental delay Generalized edema Granulocytopenia Acute leukemia Extramedullary hematopoiesis Bone marrow hypocellularity Endocardial fibrosis Congenital neutropenia Purpura Tetraplegia Skin rash Coma Gliosis Peripheral demyelination Abnormality of the liver Confusion Hepatic failure Hypertonia Irritability Intermediate uveitis Coombs-positive hemolytic anemia Platelet antibody positive Decreased lymphocyte apoptosis 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 Generalized hypotonia Elevated hepatic transaminase Failure to thrive Muscular hypotonia Fever Immunodeficiency Recurrent infections Encephalopathy Jaundice Pancytopenia Abnormality of the coagulation cascade Hypertriglyceridemia Decreased HDL cholesterol concentration Lipogranulomatosis Plasmacytosis Polyneuritis CSF pleocytosis Hypofibrinogenemia Increased VLDL cholesterol concentration T-cell lymphoma Increased total bilirubin Partial albinism Increased LDL cholesterol concentration Hemophagocytosis Histiocytosis Cellular immunodeficiency Prolonged prothrombin time Prolonged partial thromboplastin time Aspiration Hyponatremia Hyperbilirubinemia Leukopenia Increased intracranial pressure Encephalitis Hypoalbuminemia Hemiplegia Albinism Hypoproteinemia Cervical lymphadenopathy Combined immunodeficiency Episodic fever Severe combined immunodeficiency Increased CSF protein Increased serum ferritin Rheumatoid factor positive Iron deficiency anemia Increased IgG level Carious teeth Spasticity Hearing impairment Intellectual disability Congenital agranulocytosis Cyclic neutropenia Abnormal eosinophil morphology Oral ulcer Recurrent aphthous stomatitis Acute monocytic leukemia Periodontitis Overlapping toe Growth abnormality Recurrent skin infections Abdominal pain Peripheral neuropathy Recurrent respiratory infections Fatigue Restrictive cardiomyopathy Venous thrombosis Pruritus Myalgia Abnormality of vitamin B12 metabolism Abnormality of circulating enzyme level Abnormal mast cell morphology Chronic myelomonocytic leukemia Non-Hodgkin lymphoma Chronic myelogenous leukemia Malignant eosinophil proliferation Motor delay Cerebellar atrophy Reduced delayed hypersensitivity Hodgkin lymphoma Autoimmune neutropenia Increased IgM level Follicular hyperplasia Antiphospholipid antibody positivity Increased IgA level Chronic noninfectious lymphadenopathy Lymphocytosis Chronic lymphatic leukemia Multiple myeloma Antinuclear antibody positivity Hepatocellular carcinoma Uveitis Autoimmune thrombocytopenia Autoimmune hemolytic anemia Otitis media Basal cell carcinoma Petechiae Glomerulonephritis Urticaria Vasculitis Hepatitis Autoimmunity Carcinoma Renal insufficiency Edema Agranulocytosis Tonsillitis Acute lymphoblastic leukemia Clumsiness Abnormal natural killer cell physiology


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