Hepatomegaly, and Chronic myelogenous leukemia

Diseases related with Hepatomegaly and Chronic myelogenous leukemia

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

Top matches:

Congenital dyserythropoietic anemia type II (CDA II) is the most common form of CDA (see this term) characterized by anemia, jaundice and splenomegaly and often leading to liver iron overload and gallstones.

CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE II Is also known as dyserythropoietic anemia, congenital, type ii|cda ii|sec23b-cdg|hempas|hereditary erythroblastic multinuclearity with positive acidified-serum test|cda type ii|cda type 2|hereditary erythroblastic multinuclearity with a positive acidified-serum test (hemp

Related symptoms:

  • Anemia
  • Hepatomegaly
  • Congestive heart failure
  • Splenomegaly
  • Arrhythmia


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE II

A congenital disease caused by an inborn error involving APOLIPOPROTEINS E leading to abnormal LIPID METABOLISM and the accumulation of GLYCOSPHINGOLIPIDS, particularly SPHINGOMYELINS in the HISTIOCYTES. This disorder is characterized by SPLENOMEGALY and the sea-blue histiocytes in the spleen and bone marrow after May Grunwald staining.

SEA-BLUE HISTIOCYTOSIS Is also known as sea-blue histiocytosis|histiocytosis, sea-blue

Related symptoms:

  • Seizures
  • Ataxia
  • Peripheral neuropathy
  • Hepatomegaly
  • Gait disturbance


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SEA-BLUE HISTIOCYTOSIS

Sickle cell anemias are chronic hemolytic diseases that may induce three types of acute accidents: severe anemia, severe bacterial infections, and ischemic vasoocclusive accidents (VOA) caused by sickle-shaped red blood cells obstructing small blood vessels and capillaries. Many diverse complications can occur.

SICKLE CELL ANEMIA Is also known as sickle cell disease

Related symptoms:

  • Intellectual disability
  • Pain
  • Anemia
  • Hypertension
  • Hepatomegaly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SICKLE CELL ANEMIA

Other less relevant matches:

Chronic myeloid leukaemia (CML) is the most common myeloproliferative disorder accounting for 15-20% of all leukaemia cases.

CHRONIC MYELOID LEUKEMIA Is also known as chronic granulocytic leukemia|cml|leukemia, chronic myelogenous|chronic myelogenous leukemia

Related symptoms:

  • Neoplasm
  • Fever
  • Fatigue
  • Splenomegaly
  • Thrombocytopenia


SOURCES: ORPHANET OMIM MENDELIAN

More info about CHRONIC MYELOID LEUKEMIA

Persistent polyclonal B-cell lymphocytosis (PPBL) is a rare, generally benign, lymphoproliferative hematological disease characterized by: chronic, stable, persistent, polyclonal lymphocytosis of memory B-cell origin, the presence of binucleated lymphocytes in the peripheral blood, and a polyclonal increase in serum immunoglobulin M (IgM). Patients are most frequently asymptomatic or may present with mild splenomegaly.

PERSISTENT POLYCLONAL B-CELL LYMPHOCYTOSIS Is also known as persistent polyclonal b-cell lymphocytosis with binucleated lymphocytes|ppbl

Related symptoms:

  • Anemia
  • Hepatomegaly
  • Splenomegaly
  • Immunodeficiency
  • Recurrent infections


SOURCES: ORPHANET OMIM MENDELIAN

More info about PERSISTENT POLYCLONAL B-CELL LYMPHOCYTOSIS

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

Familial thrombocytosis is a type of thrombocytosis, a sustained elevation of platelet numbers, which affects the platelet/megakaryocyte lineage and may create a tendency for thrombosis and hemorrhage but does not cause myeloproliferation.

FAMILIAL THROMBOCYTOSIS Is also known as familial thrombocythemia|hereditary thrombocythemia

Related symptoms:

  • Seizures
  • Dysarthria
  • Splenomegaly
  • Headache
  • Hyperhidrosis


SOURCES: ORPHANET MENDELIAN

More info about FAMILIAL THROMBOCYTOSIS

Mastocytosis, or mast cell disease, is a heterogeneous group of clinical disorders characterized by the abnormal accumulation of mast cells in various tissues, especially in the skin and hematopoietic organs. Mastocytosis usually appears in infancy or early adulthood. In most pediatric cases, the disease is limited to the skin, but it can be associated with systemic symptoms due to the release of mediators from mast cells, even when there is no systemic infiltration. It usually has a good prognosis, with substantial improvement or spontaneous resolution before puberty. In rare cases, the disease may remain active through adolescence as a systemic adult mastocytosis. Cutaneous mastocytosis is characterized by macules, papules, nodules, or diffuse infiltration of the skin, often associated with localized hyperpigmentation. Gentle rubbing of the lesions induces histamine release from mechanically activated mast cells, causing local wheals, erythema, and often pruritus, a phenomenon termed the 'Darier sign.' In contrast to childhood-onset mastocytosis, adult-onset mastocytosis often persists for the lifetime of the patient and is also more likely to be a severe and systemic disease involving numerous organs. In some cases, it is associated with a clonal hematologic non-mast-cell lineage disease, such as a myelodysplastic or myeloproliferative disorder. Adult-onset mastocytosis can also lead to the rare mast cell leukemia, which carries a high risk of mortality (summary by Bodemer et al., 2010 and Kambe et al., 2010).

MASTOCYTOSIS, CUTANEOUS; MASTC Is also known as mastocytosis, maculopapular cutaneous|mastocytosis, diffuse cutaneous|urticaria pigmentosa

Related symptoms:

  • Neoplasm
  • Pain
  • Anemia
  • Hypertension
  • Hepatomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about MASTOCYTOSIS, CUTANEOUS; MASTC

Mevalonic aciduria (MVA) is a rare, very severe form of mevalonate kinase deficiency (MKD; see this term) characterized by dysmorphic features, failure to thrive, psychomotor delay, ocular involvement, hypotonia, progressive ataxia, myopathy, and recurrent inflammatory episodes.

MEVALONIC ACIDURIA Is also known as mva|complete mevalonate kinase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about MEVALONIC ACIDURIA

B-cell chronic lymphocytic leukemia (B-CLL) is a type of B-cell non-Hodgkin lymphoma (see this term), and the most common form of leukemia in Western countries, affecting elderly adults (mean age of 67 and 72 years) with a slight male predominance (1.7:1), and characterized by a highly variable clinical presentation that can include asymptomatic disease or non-specific B-symptoms such as unintentional weight loss, severe fatigue, fever (without evidence of infection), and night sweats as well as cervical lymphadenopathy, splenomegaly and frequent infections. Some patients can also develop autoimmune complications such as autoimmune hemolytic anemia or immune thrombocytopenia (see these terms). The clinical course is extremely heterogeneous with survival ranging from a few months to several decades.

B-CELL CHRONIC LYMPHOCYTIC LEUKEMIA Is also known as b-cll|small lymphocytic lymphoma|b-cell chronic lymphoid leukemia|leukemia, chronic lymphatic

Related symptoms:

  • Neoplasm
  • Anemia
  • Splenomegaly
  • Recurrent infections
  • Thrombocytopenia


SOURCES: OMIM ORPHANET MENDELIAN

More info about B-CELL CHRONIC LYMPHOCYTIC LEUKEMIA

Top 5 symptoms//phenotypes associated to Hepatomegaly and Chronic myelogenous leukemia

Symptoms // Phenotype % cases
Splenomegaly Very Common - Between 80% and 100% cases
Leukemia Very Common - Between 80% and 100% cases
Anemia Common - Between 50% and 80% cases
Thrombocytopenia Common - Between 50% and 80% cases
Lymphadenopathy Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hepatomegaly and Chronic myelogenous leukemia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Hepatosplenomegaly Neoplasm Leukocytosis Edema Thrombocytosis Autoimmunity Fever Purpura Seizures Petechiae Chronic lymphatic leukemia Pain Abdominal pain Recurrent infections Fatigue Cirrhosis Lymphocytosis

Rare Symptoms - Less than 30% cases

Bone marrow hypocellularity Bone pain Chest pain Hemolytic anemia Abnormality of the nervous system Osteoporosis Renal insufficiency Myeloid leukemia Poor appetite Diarrhea Chronic leukemia Weight loss Arthralgia Skin rash Malabsorption Extramedullary hematopoiesis Headache Hodgkin lymphoma Urticaria Myelodysplasia Lymphoma Follicular hyperplasia Antinuclear antibody positivity Acute leukemia Pruritus Abnormality of blood and blood-forming tissues Myeloproliferative disorder Iron deficiency anemia Hypertension Autoimmune thrombocytopenia Arrhythmia Jaundice Abnormality of the liver Cholelithiasis Reticulocytosis Ataxia Intellectual disability Abnormal bleeding Retinopathy Lactic acidosis Systemic lupus erythematosus Asthma Hyperthyroidism Gastrointestinal hemorrhage Hypotension Abnormal blistering of the skin Telangiectasia Rheumatoid arthritis Osteolysis Leukopenia Shock Sarcoma Sudden cardiac death Portal hypertension Neurodegeneration Loss of consciousness Arthritis Normocytic hypoplastic anemia Hypermelanotic macule Fluctuating splenomegaly Blue sclerae Flushing Fluctuating hepatomegaly Morbilliform rash B-cell lymphoma Ascites Generalized osteosclerosis Aciduria Venous thrombosis Lung adenocarcinoma Progressive cerebellar ataxia Visual field defect Nevus Acute myeloid leukemia Transient ischemic attack Peripheral arterial stenosis Cerebral ischemia Arterial thrombosis Gastroesophageal reflux Underdeveloped nasal alae Cellular immunodeficiency Myalgia Erythema Triangular face Papule Lymphoproliferative disorder Nausea and vomiting Ichthyosis Nausea Tachycardia Recurrent fractures Allergy Hypersplenism Dolichocephaly Elevated serum creatine phosphokinase Downslanted palpebral fissures Agenesis of cerebellar vermis Pulmonary arterial hypertension Myopathy Cholestatic liver disease Cerebellar atrophy Vomiting Organic aciduria Cerebral atrophy Obesity Clumsiness Optic atrophy Nuclear cataract Delayed skeletal maturation Posteriorly rotated ears Severe failure to thrive Cerebral cortical atrophy Acidosis Kyphoscoliosis Large fontanelles Hypoglycemia Elevated hepatic transaminase Low-set, posteriorly rotated ears Normocytic anemia Low-set ears Gastrointestinal stroma tumor Dermatographic urticaria Immunologic hypersensitivity Asthenia Therapeutic abortion Glutathione synthetase deficiency Metabolic acidosis Hypoplastic anemia Impaired temperature sensation Abnormal eosinophil morphology Food intolerance Abnormality of the gastric mucosa Mastocytosis Cutaneous mastocytosis Cataract Anaphylactic shock Retinal dystrophy Telangiectasia macularis eruptiva perstans Global developmental delay Short stature Generalized hypotonia Microcephaly Nystagmus Failure to thrive Abnormal facial shape Muscular hypotonia Spontaneous abortion Hepatocellular carcinoma Syncope Cardiomegaly Pneumonia Respiratory failure Rigidity Irritability Stroke Cough Confusion Hepatic failure Hematuria Nephropathy Sepsis Cholestasis Sea-blue histiocytosis Recurrent bacterial infections Cerebral palsy Tachypnea Osteomyelitis Microcytic anemia Wheezing Aseptic necrosis Abnormality of the vasculature Elevated serum creatinine Asplenia Atelectasis Increased mean corpuscular volume Respiratory distress Elevated serum acid phosphatase Left ventricular failure Peripheral neuropathy Congestive heart failure Hyperbilirubinemia Prolonged neonatal jaundice Gout Anemia of inadequate production Congenital hypoplastic anemia Increased total bilirubin Increased hemoglobin Increased red cell osmotic fragility Endopolyploidy on chromosome studies of bone marrow Reduced activity of N-acetylglucosaminyltransferase II Gait disturbance Absent axillary hair Dementia Abnormality of the eye Hypopigmentation of the skin Hypertriglyceridemia Subcutaneous nodule Hyperpigmentation of the skin Cafe-au-lait spot Blepharitis Pulmonary infiltrates Histiocytosis Mucopolysacchariduria Mediastinal lymphadenopathy Hypoxemia Abnormality of the spleen Vertigo Increased IgG level Basal cell carcinoma Autoimmune hemolytic anemia Uveitis Multiple myeloma Generalized edema Chronic noninfectious lymphadenopathy Increased IgA level Antiphospholipid antibody positivity Increased IgM level Autoimmune neutropenia Reduced delayed hypersensitivity Cervical lymphadenopathy Glomerulonephritis Rheumatoid factor positive 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 Intermediate uveitis Dysarthria Hyperhidrosis Paresthesia Increased antibody level in blood Eosinophilia Night sweats Increased red cell sickling tendency Abnormal hemoglobin Microalbuminuria Hypochromic anemia Chronic hemolytic anemia Unconjugated hyperbilirubinemia Pure red cell aplasia Persistence of hemoglobin F Abnormal lactate dehydrogenase activity Increased lactate dehydrogenase activity Priapism Pigment gallstones Abnormal granulocyte morphology Vasculitis Reduced leukocyte alkaline phosphatase Abnormal basophil morphology Ph-positive acute lymphoblastic leukemia Immunodeficiency Respiratory tract infection Sinusitis Recurrent upper respiratory tract infections IgM deficiency Generalized lymphadenopathy Humoral immunodeficiency Carcinoma Hepatitis Non-Hodgkin lymphoma


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