Anemia, and Eosinophilia

Diseases related with Anemia and Eosinophilia

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


Top matches:

Low match PRIMARY HYPEREOSINOPHILIC SYNDROME


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

Low match HEREDITARY NEUTROPHILIA


Related symptoms:

  • Anemia
  • Fever
  • Weight loss
  • Dyspnea
  • Hepatosplenomegaly


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HEREDITARY NEUTROPHILIA

Low 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

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Other less relevant matches:

Low match AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA; ALPS2A


AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA; ALPS2A Is also known as alps2|autoimmune lymphoproliferative syndrome, type ii

Related symptoms:

  • Anemia
  • Hepatomegaly
  • Fever
  • Splenomegaly
  • Thrombocytopenia


SOURCES: OMIM MESH MENDELIAN

More info about AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA; ALPS2A

Low match IMMUNE DYSREGULATION-POLYENDOCRINOPATHY-ENTEROPATHY-X-LINKED SYNDROME


Immunodysregulation - polyendocrinopathy - enteropathy - X-linked (IPEX) syndrome is a severe congenital systemic autoimmune disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections.

IMMUNE DYSREGULATION-POLYENDOCRINOPATHY-ENTEROPATHY-X-LINKED SYNDROME Is also known as enteropathy, autoimmune, with hemolytic anemia and polyendocrinopathy|ipex|autoimmune enteropathy type 1|iddm-secretory diarrhea syndrome|x-linked autoimmunity-allergic dysregulation syndrome|polyendocrinopathy, immune dysfunction, and diarrhea, x-linked|

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Anemia
  • Intrauterine growth retardation
  • Diarrhea


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about IMMUNE DYSREGULATION-POLYENDOCRINOPATHY-ENTEROPATHY-X-LINKED SYNDROME

Low match AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME


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

Low match GASTROINTESTINAL STROMAL TUMOR


Gastrointestinal stromal tumor (GIST) is the most common mesenchymal neoplasm of the gastrointestinal (GI) tract, typically presenting in adults over the age of 40 (mean age 63), and only rarely in children, in various regions of the GI tract, most commonly the stomach or small intestine but also less commonly in the esophagus, appendix, rectum and colon. GISTs can be asymptomatic or present with various non-specific signs, depending on the location and size of tumor, such as loss of appetite, anemia, weight loss, fatigue, abdominal discomfort or fullness, nausea, vomiting, as well as an abdominal mass, blood in stool, and intestinal obstruction. GISTs can also be seen in familial syndromes such as Carney triad and neurofibromatosis type 1.

GASTROINTESTINAL STROMAL TUMOR Is also known as gastrointestinal stromal sarcoma|gist

Related symptoms:

  • Neoplasm
  • Pain
  • Anemia
  • Fever
  • Fatigue


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about GASTROINTESTINAL STROMAL TUMOR

Low match HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOSOMAL RECESSIVE


Autosomal dominant hyper-IgE recurrent infection syndrome (OMIM ) is a primary immunodeficiency disorder characterized by recurrent Staphylococcus aureus skin abscesses, increased serum IgE, and abnormalities of the connective tissue, skeleton, and dentition (Buckley et al., 1972; Grimbacher et al., 1999).The autosomal recessive form shares hyper-IgE, eosinophilia, and recurrent Staphylococcal infections, but is distinguished from autosomal dominant HIES by the lack of connective tissue and skeletal involvement (Renner et al., 2004).See also TYK2 deficiency (OMIM ), a clinically distinct disease entity that includes characteristic features of both autosomal recessive HIES and mendelian susceptibility to mycobacterial disease (MSMD ) (Minegishi et al., 2006).

HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOSOMAL RECESSIVE Is also known as hyper-ige syndrome, autosomal recessive|hies, autosomal recessive

Related symptoms:

  • Neoplasm
  • Anemia
  • Abnormality of the dentition
  • Immunodeficiency
  • Recurrent infections


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOSOMAL RECESSIVE

Low 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

Low match OMENN SYNDROME


Omenn syndrome (OS) is an inflammatory condition characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly, associated with severe combined immunodeficiency (SCID; see this term).

OMENN SYNDROME Is also known as combined immunodeficiency with hypereosinophilia|reticuloendotheliosis, familial, with eosinophilia|severe combined immunodeficiency with hypereosinophilia

Related symptoms:

  • Failure to thrive
  • Anemia
  • Hepatomegaly
  • Fever
  • Edema


SOURCES: ORPHANET OMIM MENDELIAN

More info about OMENN SYNDROME

Top 5 symptoms//phenotypes associated to Anemia and Eosinophilia

Symptoms // Phenotype % cases
Thrombocytopenia Common - Between 50% and 80% cases
Lymphadenopathy Uncommon - Between 30% and 50% cases
Increased antibody level in blood Uncommon - Between 30% and 50% cases
Neoplasm Uncommon - Between 30% and 50% cases
Splenomegaly Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Hepatosplenomegaly Fever Hemolytic anemia Autoimmune hemolytic anemia Leukemia Nephrotic syndrome Urticaria Skin rash Hepatomegaly Immunodeficiency Autoimmunity Recurrent bacterial infections Sepsis Inflammatory abnormality of the skin

Rare Symptoms - Less than 30% cases


Mastocytosis Thyroiditis Antineutrophil antibody positivity Weight loss Platelet antibody positive Gastrointestinal hemorrhage Rheumatoid factor positive Vasculitis Coombs-positive hemolytic anemia Nephritis Petechiae Reduced delayed hypersensitivity Decreased lymphocyte apoptosis Iron deficiency anemia Autoimmune thrombocytopenia Recurrent fungal infections Antinuclear antibody positivity Chronic noninfectious lymphadenopathy Increased IgA level Antiphospholipid antibody positivity Follicular hyperplasia Increased IgG level Combined immunodeficiency Increased proportion of HLA DR+ T cells Autoimmune neutropenia Recurrent infections Fatigue Hepatitis Abdominal pain Eczema Coarse facial features Erythroderma Hypothyroidism Recurrent skin infections Increased IgM level Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells Diarrhea Lymphoma Failure to thrive Edema Myelodysplasia Recurrent viral infections Smooth muscle antibody positivity Osteomyelitis Hemiplegia Meningitis Sarcoma Leiomyosarcoma Sinusitis Gastrointestinal obstruction Neoplasm of the small intestine Neoplasm of the rectum Gastrointestinal stroma tumor Esophageal neoplasm Schwannoma Paraganglioma Neoplasm of the colon Neoplasm of the stomach Lipoma Neoplasm of the gastrointestinal tract Soft tissue sarcoma Giant hypertrophic gastritis Abnormality of the dentition Asthma Otitis media Irregular hyperpigmentation Recurrent otitis media Neurofibromas Hypermelanotic macule Large hands Intestinal obstruction Abnormal lung morphology Recurrent sinopulmonary infections Pericarditis Hypoproteinemia Shock Disproportionate short-limb short stature Scaling skin Leukocytosis Aplasia/Hypoplasia of the eyebrow Hashimoto thyroiditis Severe combined immunodeficiency Hypoplasia of the thymus Short toe Cellular immunodeficiency Metaphyseal chondrodysplasia B lymphocytopenia Protracted diarrhea Generalized lymphadenopathy Abnormal lymphocyte morphology Desquamation of skin soon after birth Increased body weight Chronic diarrhea Recurrent sinusitis Anaphylactic shock Subarachnoid hemorrhage Atopic dermatitis Recurrent lower respiratory tract infections Esophagitis Abdominal distention Cerebral vasculitis Recurrent upper and lower respiratory tract infections Pneumonia Thickened skin Alopecia Severe short stature Papule Pruritus Hypotrichosis Dry skin Abnormality of the metaphysis Hyperpigmentation of the skin Immune dysregulation Nausea and vomiting Oral ulcer Acute myeloid leukemia Thrombocytosis Periodontitis Acute monocytic leukemia Recurrent aphthous stomatitis Congenital neutropenia Monocytosis Overlapping toe Abnormal eosinophil morphology Cyclic neutropenia Congenital agranulocytosis Elevated erythrocyte sedimentation rate Reticulocytosis Malar rash Myeloid leukemia Growth abnormality Growth delay Tachycardia Bone marrow hypocellularity Endocardial fibrosis Abnormal mast cell morphology Abnormality of circulating enzyme level Abnormality of vitamin B12 metabolism Dyspnea Pericardial effusion Neutropenia Thickened calvaria Neutrophilia Refractory anemia Megakaryocyte dysplasia Elevated leukocyte alkaline phosphatase Recurrent respiratory infections Carious teeth Increased B cell count Intrauterine growth retardation Abnormality of the liver Extramedullary hematopoiesis Hodgkin lymphoma Uveitis Hepatocellular carcinoma Multiple myeloma Generalized edema Chronic lymphatic leukemia Lymphocytosis Glomerulonephritis Cervical lymphadenopathy Intermediate uveitis Pain Dysphagia Vomiting Constipation Pallor Basal cell carcinoma Purpura Diabetes mellitus Malnutrition Arthritis Cardiac arrest Type I diabetes mellitus Abnormal intestine morphology Hyperglycemia Abnormality of the coagulation cascade Abnormality of the thyroid gland Carcinoma Ketoacidosis Villous atrophy Ileus Pancreatic hypoplasia Intractable diarrhea Secretory diarrhea Renal insufficiency Severe B lymphocytopenia



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