Edema, and Hemolytic anemia

Diseases related with Edema and Hemolytic anemia

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

Top matches:

Buruli ulcer is an infectious disease prevalent in many tropical and subtropical regions caused by infection with Mycobacterium ulcerans. It is the third most frequent mycobacterial disease in humans worldwide, after tuberculosis (OMIM ) and leprosy (OMIM ). Lesions are most common on exposed parts of the body, especially the limbs. Buruli ulcer derives its name from a county in Uganda, East Africa, north of Kampala, where the disease was found in the late 1950s in hundreds of people living near marshes and riverine areas near the Nile River (Clancey et al., 1961; Barker, 1971). The disease was first described in the medical literature in 1948 in a report on patients in Australia (MacCallum et al., 1948). Patients have also been reported from tropical areas in Latin America and Asia (Stienstra et al., 2006; van der Werf et al., 2005).

BURULI ULCER, SUSCEPTIBILITY TO Is also known as mycobacterium ulcerans, susceptibility to

Related symptoms:

  • Edema


SOURCES: OMIM MENDELIAN

More info about BURULI ULCER, SUSCEPTIBILITY TO

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

Erythropoietic protoporphyria (EPP) is an inherited disorder of the heme metabolic pathway characterized by accumulation of protoporphyrin in blood, erythrocytes and tissues, and cutaneous manifestations of photosensitivity.

AUTOSOMAL ERYTHROPOIETIC PROTOPORPHYRIA Is also known as epp

Related symptoms:

  • Edema
  • Erythema
  • Pruritus
  • Cirrhosis
  • Eczema


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL ERYTHROPOIETIC PROTOPORPHYRIA

Other less relevant matches:

Hereditary elliptocytosis-3 is a hemolytic disorder characterized by the presence of elliptical erythrocytes and resulting in some cases in hemolytic anemia (summary by Qualtieri et al., 1997).For a general description and a discussion of genetic heterogeneity of hereditary elliptocytosis (HE), see EL1 (OMIM ).

Related symptoms:

  • Anemia
  • Edema
  • Jaundice
  • Hepatosplenomegaly
  • Lymphadenopathy


SOURCES: MESH OMIM MENDELIAN

More info about ELLIPTOCYTOSIS 3; EL3

In dehydrated hereditary stomatocytosis (DHS), also known as hereditary xerocytosis, red blood cells exhibit altered intracellular cation content and cellular dehydration, resulting in increased erythrocyte mean corpuscular hemoglobin concentration (MCHC) and decreased erythrocyte osmotic fragility. Blood films show various cell shape abnormalities, the most characteristic being the stomatocyte, with a straight or crescent-shaped central pallor (summary by Rapetti-Mauss et al., 2015).For discussion of clinical and genetic heterogeneity of the stomatocytoses, see DHS1 (OMIM ).

DEHYDRATED HEREDITARY STOMATOCYTOSIS 2; DHS2 Is also known as desiccytosis gardos|xerocytosis gardos

Related symptoms:

  • Anemia
  • Hepatomegaly
  • Splenomegaly
  • Jaundice
  • Hepatosplenomegaly


SOURCES: OMIM MENDELIAN

More info about DEHYDRATED HEREDITARY STOMATOCYTOSIS 2; DHS2

Hemolytic anemia due to red cell pyruvate kinase (PK) deficiency is a metabolic disorder characterized by a variable degree of chronic nonspherocytic hemolytic anemia.

HEMOLYTIC ANEMIA DUE TO RED CELL PYRUVATE KINASE DEFICIENCY Is also known as pyruvate kinase deficiency of erythrocytes|pk deficiency|pyruvate kinase deficiency of erythrocyte

Related symptoms:

  • Anemia
  • Intrauterine growth retardation
  • Fatigue
  • Edema
  • Splenomegaly


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about HEMOLYTIC ANEMIA DUE TO RED CELL PYRUVATE KINASE DEFICIENCY

Hemoglobin H disease is a subtype of alpha-thalassemia (see {604131}) in which patients have compound heterozygosity for alpha(+)-thalassemia, caused by deletion of one alpha-globin gene, and for alpha(0)-thalassemia, caused by deletion in cis of 2 alpha-globin genes (summary by Lal et al., 2011). When 3 alpha-globin genes become inactive because of deletions with or without concomitant nondeletional mutations, the affected individual has only 1 functional alpha-globin gene. These people usually have moderate anemia and marked microcytosis and hypochromia. In affected adults, there is an excess of beta-globin chains within erythrocytes that will form beta-4 tetramers, also known as hemoglobin H (summary by Chui et al., 2003).Hb H disease is usually caused by the combination of alpha(0)-thalassemia with deletional alpha(+)-thalassemia, a combination referred to as 'deletional' Hb H disease. In a smaller proportion of patients, Hb H disease is caused by an alpha(0)-thalassemia plus an alpha(+)-thalassemia point mutation or small insertion/deletion. Such a situation is labeled 'nondeletional' Hb H disease. Patients with nondeletional Hb H disease are usually more anemic, more symptomatic, more prone to have significant hepatosplenomegaly, and more likely to require transfusions (summary by Lal et al., 2011).While most thalassemia-related hydrops fetalis is caused by the lack of all alpha-globin genes, there are reports of fetuses with Hb H disease that developed the hydrops fetalis syndrome; see {236750}.

HEMOGLOBIN H DISEASE; HBH Is also known as alpha-thalassemia, hemoglobin h type|hemoglobin h disease, deletional

Related symptoms:

  • Cognitive impairment
  • Anemia
  • Hepatomegaly
  • Edema
  • Splenomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about HEMOGLOBIN H DISEASE; HBH

Glucosephosphate isomerase (GPI) deficiency is an erythroenzymopathy characterized by chronic nonspherocytic hemolytic anemia.

Related symptoms:

  • Intellectual disability
  • Ataxia
  • Muscle weakness
  • Anemia
  • Edema


SOURCES: OMIM ORPHANET MENDELIAN

More info about HEMOLYTIC ANEMIA DUE TO GLUCOPHOSPHATE ISOMERASE DEFICIENCY

Erythropoietic protoporphyria-1 is an inborn error of porphyrin metabolism caused by decreased activity of the enzyme ferrochelatase, the terminal enzyme of the heme biosynthetic pathway, which catalyzes the insertion of iron into protoporphyrin to form heme. EPP is characterized clinically by photosensitivity to visible light commencing in childhood, and biochemically by elevated red cell protoporphyrin levels (Todd, 1994). Genetic Heterogeneity of Erythropoietic ProtoporphyriaAlso see X-linked erythropoietic protoporphyria (XLEPP ), caused by mutation in the ALAS2 gene (OMIM ) on chromosome Xp11, and EPP2 (OMIM ), caused by mutation in the CLPX gene (OMIM ) on chromosome 15q22.

PROTOPORPHYRIA, ERYTHROPOIETIC, 1; EPP1 Is also known as ferrochelatase deficiency|protoporphyria, erythropoietic|heme synthetase deficiency|erythrohepatic protoporphyria|epp

Related symptoms:

  • Pain
  • Anemia
  • Edema
  • Thrombocytopenia
  • Jaundice


SOURCES: OMIM MENDELIAN

More info about PROTOPORPHYRIA, ERYTHROPOIETIC, 1; EPP1

Lymphoproliferative syndrome-1 is an autosomal recessive primary immunodeficiency characterized by onset in early childhood of Epstein-Barr virus (EBV)-associated immune dysregulation, manifest as lymphoma, lymphomatoid granulomatosis, hemophagocytic lymphohistiocytosis, Hodgkin disease, and/or hypogammaglobulinemia. Autoimmune disorders, such as autoimmune hemolytic anemia or renal disease, may also occur. Patients show a high EBV viral load and decreased invariant natural killer T cells. It is unknown whether patients with ITK mutations are intrinsically susceptible to development of lymphoma or dysgammaglobulinemia in the absence of EBV infection (summary by Stepensky et al., 2011; Linka et al., 2012).For a discussion of genetic heterogeneity of lymphoproliferative syndrome, see XLP1 (OMIM ).

Related symptoms:

  • Anemia
  • Hepatomegaly
  • Fever
  • Splenomegaly
  • Immunodeficiency


SOURCES: OMIM MESH MENDELIAN

More info about LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1

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

Symptoms // Phenotype % cases
Anemia Common - Between 50% and 80% cases
Cholelithiasis Common - Between 50% and 80% cases
Jaundice Common - Between 50% and 80% cases
Splenomegaly Uncommon - Between 30% and 50% cases
Hydrops fetalis Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Hepatosplenomegaly Hepatomegaly Prolonged neonatal jaundice Cholecystitis Microcytic anemia

Rare Symptoms - Less than 30% cases

Decreased mean corpuscular volume Pigment gallstones Nonspherocytic hemolytic anemia Congenital hemolytic anemia Chronic hemolytic anemia Reticulocytosis Pneumonia Pallor Pruritus Erythema Cutaneous photosensitivity Decreased liver function Poikilocytosis Thrombocytopenia Hyperbilirubinemia Eczema Lymphadenopathy Scarring Immunodeficiency Fever Acute hepatic failure Cholestasis Inflammatory abnormality of the skin Abnormal blistering of the skin Hypertriglyceridemia Tetraparesis Recurrent infections Polyneuropathy Hepatic failure Impaired neutrophil bactericidal activity Abnormality of the liver Falls Paresthesia Pain Hodgkin lymphoma Autoimmunity Pulmonary infiltrates Generalized lymphadenopathy Granulomatosis Hemophagocytosis Histiocytosis Recurrent aphthous stomatitis Stomatitis Immune dysregulation Lymphoproliferative disorder IgG deficiency Ascites Decreased glucosephosphate isomerase activity Autoimmune hemolytic anemia Pericardial effusion Elevated erythrocyte sedimentation rate Pleural effusion Lymphopenia Pancytopenia Decreased antibody level in blood Lymphoma Spontaneous hemolytic crises Elevated transferrin saturation Sensory ataxia Increased mean corpuscular volume Fatigue Intrauterine growth retardation Increased mean corpuscular hemoglobin concentration Anisopoikilocytosis Normocytic anemia Stomatocytosis Acanthocytosis Macrocytic anemia Thrombocytosis Dehydration Asthenia Intermittent jaundice Extramedullary hematopoiesis Elliptocytosis Spherocytosis Abnormality of the heme biosynthetic pathway Cirrhosis Lethargy Increased serum ferritin Muscle weakness Cognitive impairment Ataxia Intellectual disability Hemoglobin H Reduced alpha/beta synthesis ratio Hypersplenism Abnormal hemoglobin Abnormality of immune system physiology Myelodysplasia Reduced red cell pyruvate kinase activity Nonimmune hydrops fetalis Neoplasm Compensated hemolytic anemia Increased red cell osmotic fragility Abnormal erythrocyte morphology Increased serum iron Abnormality of the amniotic fluid Unconjugated hyperbilirubinemia Anisocytosis Dysgammaglobulinemia


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