Anemia, and Acute leukemia

Diseases related with Anemia and Acute leukemia

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


Top matches:

High 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

Medium match TN POLYAGGLUTINATION SYNDROME; TNPS


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

Low match BLOOD GROUP, SS; SS


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

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Other less relevant matches:

Low match MYELODYSPLASTIC SYNDROME; MDS


Myelodysplastic syndrome (MDS) is a heterogeneous group of clonal hematologic stem cell disorders characterized by ineffective hematopoiesis resulting in low blood counts, most commonly anemia, and a risk of progression to acute myeloid leukemia (AML ). Blood smears and bone marrow biopsies show dysplastic changes in myeloid cells, with abnormal proliferation and differentiation of 1 or more lineages (erythroid, myeloid, megakaryocytic). MDS can be subdivided into several categories based on morphologic characteristics, such as low-grade refractory anemia (RA) or high-grade refractory anemia with excess blasts (RAEB). Bone marrow biopsies of some patients show ringed sideroblasts (RARS), which reflects abnormal iron staining in mitochondria surrounding the nucleus of erythrocyte progenitors (summary by Delhommeau et al., 2009 and Papaemmanuil et al., 2011).

MYELODYSPLASTIC SYNDROME; MDS Is also known as myelodysplastic syndrome, susceptibility to, included

Related symptoms:

  • Anemia
  • Leukemia
  • Myelodysplasia
  • Myeloid leukemia
  • Acute myeloid leukemia


SOURCES: OMIM ORPHANET MENDELIAN

More info about MYELODYSPLASTIC SYNDROME; MDS

Low match ERYTHROLEUKEMIA, FAMILIAL


Familial erythroleukemia is a leukemic or preleukemic state in which red cell proliferation is the predominant feature. Hematologic characteristics include particularly ineffective and hyperplastic erythropoiesis with megaloblastic components accompanied by myeloblastic proliferation of varying degree (Park et al., 2002).Park et al. (2002) discussed the evolution of the definition of 'erythroleukemia,' which is considered by most to be a subtype of acute myelogenous leukemia (AML ). Controversy about the precise definition of erythroleukemia revolves around the number or percentage of erythroblasts and myeloblasts found in the bone marrow and peripheral circulation. In the French-American-British (FAB) classification system (Bennett et al., 1985), it is known as AML-M6, whereas in the revised World Health Organization (WHO) classification system (Harris et al., 1999), it is known as 'AML, not otherwise categorized' (Zini and D'Onofrio, 2004).

ERYTHROLEUKEMIA, FAMILIAL Is also known as di guglielmo disease, familial|leukemia, acute myelogenous, m6

Related symptoms:

  • Anemia
  • Leukemia
  • Leukopenia
  • Myelodysplasia
  • Acute myeloid leukemia


SOURCES: OMIM MESH MENDELIAN

More info about ERYTHROLEUKEMIA, FAMILIAL

Low match CHROMOSOME 5Q DELETION SYNDROME


The 5q- syndrome is a myelodysplastic syndrome characterized by a defect in erythroid differentiation. Patients have severe macrocytic anemia, normal or elevated platelet counts, normal or reduced neutrophil counts, erythroid hypoplasia in the bone marrow, and hypolobated micromegakaryocytes (Ebert et al., 2008).

CHROMOSOME 5Q DELETION SYNDROME Is also known as mar|macrocytic anemia, refractory, due to 5q deletion|5q- syndrome

Related symptoms:

  • Neoplasm
  • Anemia
  • Thrombocytopenia
  • Leukemia
  • Neutropenia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about CHROMOSOME 5Q DELETION SYNDROME

Low match DDX41-RELATED HEMATOLOGIC MALIGNANCY PREDISPOSITION SYNDROME


Familial myeloproliferative/lymphoproliferative neoplasms is an autosomal dominant cancer predisposition syndrome characterized by adult-onset of hematologic malignancies mainly affecting the myeloid line. Most patients present with myelodysplastic syndrome (MDS ) and/or acute myeloid leukemia (AML ). Rare lymphoid malignancies, including lymphoma, can also occur. Some mutation carriers, even if unaffected by a hematologic malignancy, may have evidence of immune dysregulation disorders, including asthma, eczema, or juvenile arthritis. The disorder shows incomplete penetrance (summary by Lewinsohn et al., 2016). Patients may show a favorable response to treatment with lenalidomide (summary by Polprasert et al., 2015).

Related symptoms:

  • Neoplasm
  • Anemia
  • Arthritis
  • Leukemia
  • Asthma


SOURCES: ORPHANET OMIM MENDELIAN

More info about DDX41-RELATED HEMATOLOGIC MALIGNANCY PREDISPOSITION SYNDROME

Low match ALPHA DELTA GRANULE DEFICIENCY


Disorder characterized by a decrease or lack of platelet dense bodies in which the releasable pool of adenine nucleotides and 5HT are normally stored.

ALPHA DELTA GRANULE DEFICIENCY Is also known as combined alpha-delta platelet storage pool deficiency|alpha dense granule deficiency

Related symptoms:

  • Anemia
  • Thrombocytopenia
  • Bruising susceptibility
  • Abnormal bleeding
  • Epistaxis


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about ALPHA DELTA GRANULE DEFICIENCY

Low match PANCYTOPENIA DUE TO IKZF1 MUTATIONS


Pancytopenia due to IKZF1 mutations is a rare syndrome with combined immunodeficiency characterized by a variable clinical presentation ranging from asymptomatic individuals to potentially life-threatening, recurrent bacterial infections associated with progressive loss of serum immunoglobulins and B cells.

PANCYTOPENIA DUE TO IKZF1 MUTATIONS Is also known as cid due to ikaros deficiency|combined immunodeficiency due to ikaros deficiency

Related symptoms:

  • Anemia
  • Edema
  • Immunodeficiency
  • Recurrent infections
  • Thrombocytopenia


SOURCES: OMIM ORPHANET MENDELIAN

More info about PANCYTOPENIA DUE TO IKZF1 MUTATIONS

Top 5 symptoms//phenotypes associated to Anemia and Acute leukemia

Symptoms // Phenotype % cases
Leukemia Common - Between 50% and 80% cases
Myelodysplasia Common - Between 50% and 80% cases
Thrombocytopenia Uncommon - Between 30% and 50% cases
Neoplasm Uncommon - Between 30% and 50% cases
Acute monocytic leukemia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Acute myeloid leukemia Leukopenia Myeloid leukemia Refractory anemia Bone marrow hypocellularity

Rare Symptoms - Less than 30% cases


Pancytopenia Cirrhosis Interstitial pulmonary abnormality Decreased mean platelet volume Absent radius Abnormal lung morphology Hepatic fibrosis Pulmonary fibrosis Premature graying of hair Polyhydramnios Aplastic anemia Edema Immunodeficiency Recurrent infections Epistaxis Decreased antibody level in blood Lymphopenia Aspiration Recurrent bacterial infections Acute lymphoblastic leukemia Prolonged bleeding time Systemic lupus erythematosus Abnormal bleeding Abnormal megakaryocyte morphology Autoimmunity Hemolytic anemia Abnormal erythrocyte morphology Refractory anemia with ringed sideroblasts Neutropenia Macrocytic anemia Increased mean platelet volume Erythroid hypoplasia Pure red cell aplasia Refractory macrocytic anemia Bruising susceptibility Arthritis Asthma Lymphoma Eczema Melanoma Immune dysregulation Monocytosis Chronic myelomonocytic leukemia Erythroid dysplasia B lymphocytopenia



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