Edema, and Hepatosplenomegaly

Diseases related with Edema and Hepatosplenomegaly

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

Top 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

Hennekam lymphangiectasia-lymphedema syndrome-3 (HKKLLS3) is characterized by widespread congenital edema that is more severe in more dependent areas of the body. Associated features include facial dysmorphism and protein-losing enteropathy of variable severity (Brouillard et al., 2017).For a discussion of genetic heterogeneity of Hennekam lymphangiectasia-lymphedema syndrome, see HKLLS1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Hypertelorism
  • Strabismus
  • Abnormal facial shape
  • Edema


SOURCES: OMIM MENDELIAN

More info about HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 3; HKLLS3

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

Other less relevant matches:

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

Systemic-onset juvenile idiopathic arthritis is marked by the severity of the extra-articular manifestations (fever, cutaneous eruptions) and by an equal sex ratio.

SYSTEMIC-ONSET JUVENILE IDIOPATHIC ARTHRITIS Is also known as systemic-onset jia|systemic juvenile rheumatoid arthritis|still disease|systemic polyarthritis

Related symptoms:

  • Visual impairment
  • Hepatomegaly
  • Fever
  • Splenomegaly
  • Visual loss


SOURCES: ORPHANET OMIM MENDELIAN

More info about SYSTEMIC-ONSET JUVENILE IDIOPATHIC ARTHRITIS

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

CDA type I is a rare inherited red blood cell disorder characterized by macrocytic anemia, ineffective erythropoiesis, and secondary hemochromatosis. It is occasionally associated with bone abnormalities, especially of the hands and feet (acrodysostosis), nail hypoplasia, and scoliosis (Tamary et al., 2005). Striking morphologic abnormalities of erythroblasts, reviewed by Wickramasinghe and Wood (2005), include the 'Swiss-cheese' abnormality of erythroblasts on electron microscopy.Four types of CDA, all of which show show ineffective erythropoiesis and multinuclear erythroblasts, have been characterized by clinical and hematopoietic findings. The classification of the first 3 types is based on that described by Wendt and Heimpel (1967). Type I is characterized by megaloblastic changes. The more common type II (OMIM ) is characterized by normocytic binuclear or multinuclear red cells, which on electron microscopy contain double cytoplasmic membranes. Type III (OMIM ), which shows autosomal dominant inheritance, has prominent erythroblastic multinuclearity forming 'gigantoblasts' with up to 12 nuclei. Type IV (OMIM ) is the designation given to a form of CDA with characteristics different from those of types I, II, and III (Wickramasinghe et al., 1991; Arnaud et al., 2010). Genetic Heterogeneity of Congenital Dyserythropoietic AnemiaCDAN1B (OMIM ) is caused by mutation in the C15ORF41 gene (OMIM ) on chromosome 15q14; CDAN2 (OMIM ) is caused by mutation in the SEC23B gene (OMIM ) on chromosome 20p11; CDAN3 (OMIM ) maps to chromosome 15q21; and CDAN4 (OMIM ) is caused by mutation in the KLF1 gene (OMIM ) on chromosome 19p13.For a possible additional form of CDA type I, see {603529}.

ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IA; CDAN1A Is also known as dyserythropoietic anemia, congenital, type ia|cda ia|anemia, congenital dyserythropoietic, type i

Related symptoms:

  • Short stature
  • Scoliosis
  • Growth delay
  • Anemia
  • Hypertension


SOURCES: OMIM MENDELIAN

More info about ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IA; CDAN1A

AMYLOIDOSIS, FAMILIAL VISCERAL Is also known as german type amyloidosis|amyloidosis, systemic nonneuropathic|amyloidosis viii|amyloidosis, familial renal|ostertag type amyloidosis

Related symptoms:

  • Hearing impairment
  • Neoplasm
  • Pain
  • Hypertension
  • Peripheral neuropathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about AMYLOIDOSIS, FAMILIAL VISCERAL

Overhydrated hereditary stomatocytosis (OHSt) is a disorder of red cell membrane permeability to monovalent cations and is characterized clinically by hemolytic anemia.

OVERHYDRATED HEREDITARY STOMATOCYTOSIS Is also known as ohs|potassium-sodium disorder of erythrocyte

Related symptoms:

  • Generalized hypotonia
  • Pain
  • Anemia
  • Hepatomegaly
  • Fever


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about OVERHYDRATED HEREDITARY STOMATOCYTOSIS

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

Top 5 symptoms//phenotypes associated to Edema and Hepatosplenomegaly

Symptoms // Phenotype % cases
Splenomegaly Common - Between 50% and 80% cases
Anemia Common - Between 50% and 80% cases
Hepatomegaly Common - Between 50% and 80% cases
Hemolytic anemia Common - Between 50% and 80% cases
Jaundice Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Lymphadenopathy Cholelithiasis Fever Hydrops fetalis Reticulocytosis Abdominal pain Autoimmunity Prolonged neonatal jaundice Hyperbilirubinemia Poikilocytosis

Rare Symptoms - Less than 30% cases

Decreased mean corpuscular volume Extramedullary hematopoiesis Hodgkin lymphoma Stomatocytosis Macrocytic anemia Dehydration Pallor Spherocytosis Lymphoma Increased antibody level in blood Pneumonia Intermittent jaundice Neoplasm Urticaria Pleural effusion Pain Uveitis Anisocytosis Elevated erythrocyte sedimentation rate Autoimmune hemolytic anemia Nephropathy Hypertension Skin rash Congenital hemolytic anemia Thrombocytopenia Lactic acidosis Respiratory tract infection Cough Hepatic steatosis Brittle hair Diarrhea Generalized hypotonia Rigidity Papilledema Generalized amyloid deposition Hematuria Peripheral neuropathy Cardiomyopathy Glaucoma Weight loss Proteinuria Paresthesia Polyneuropathy Renal amyloidosis Nephrotic syndrome Cholestasis Amyloidosis Optic neuropathy Drusen Restrictive cardiomyopathy Albuminuria Abnormality of mitochondrial metabolism Vasculitis Pulmonary fibrosis Cervical lymphadenopathy Increased IgA level Antiphospholipid antibody positivity Follicular hyperplasia Increased IgM level Autoimmune neutropenia Reduced delayed hypersensitivity Increased IgG level Rheumatoid factor positive Lymphocytosis 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 Chronic noninfectious lymphadenopathy Chronic lymphatic leukemia Sideroblastic anemia Purpura Increased red cell osmotic fragility Increased intracellular sodium Renal insufficiency Carcinoma Leukemia Hepatitis Macrocytic dyserythropoietic anemia Eosinophilia Generalized edema Glomerulonephritis Petechiae Basal cell carcinoma Iron deficiency anemia Autoimmune thrombocytopenia Hepatocellular carcinoma Antinuclear antibody positivity Multiple myeloma Hearing impairment Granulomatosis Reduced activity of N-acetylglucosaminyltransferase II Normocytic anemia Abnormal hemoglobin Hypersplenism Reduced alpha/beta synthesis ratio Hemoglobin H Increased mean corpuscular volume Acanthocytosis Chronic hemolytic anemia Microcytic anemia Anisopoikilocytosis Increased mean corpuscular hemoglobin concentration Visual impairment Visual loss Arthralgia Myalgia Abnormality of immune system physiology Myelodysplasia Falls Abnormal facial shape Elliptocytosis Asthenia Pigment gallstones Global developmental delay Hypertelorism Strabismus Upslanted palpebral fissure Cognitive impairment Polyhydramnios Synophrys Flat face Lymphedema Abnormal intestine morphology Protein-losing enteropathy Facial edema Arthritis Rheumatoid arthritis Endopolyploidy on chromosome studies of bone marrow Ventricular septal defect Hemophagocytosis Generalized lymphadenopathy Dysgammaglobulinemia Short stature Scoliosis Growth delay Syndactyly Recurrent aphthous stomatitis Hip dysplasia Small nail Abnormal vertebral morphology Increased serum ferritin Anemia of inadequate production Erythroid hyperplasia Mild postnatal growth retardation Histiocytosis Stomatitis Pericarditis Recurrent infections Joint swelling Juvenile rheumatoid arthritis Elevated C-reactive protein level Anterior uveitis Serositis Immunodeficiency Ascites Immune dysregulation Decreased antibody level in blood Pancytopenia Lymphopenia Pericardial effusion IgG deficiency Pulmonary infiltrates Lymphoproliferative disorder Intermediate uveitis


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