Hepatomegaly, and Acute leukemia
Diseases related with Hepatomegaly and Acute leukemia
In the following list you will find some of the most common rare diseases related to Hepatomegaly and Acute leukemia that can help you solving undiagnosed cases.
Medium match ESSENTIAL THROMBOCYTHEMIA
Essential thrombocythemia (ET) is a myeloproliferative neoplasm (MPN, see this term) characterized by a sustained elevation of platelet number (> 450 x 109/L) with a tendency for thrombosis and hemorrhage.
ESSENTIAL THROMBOCYTHEMIA Is also known as thrombocytosis 1|essential thrombocytosis|etRelated symptoms:
- Abnormality of the skeletal system
- Respiratory distress
More info about ESSENTIAL THROMBOCYTHEMIA
Medium match POLYCYTHEMIA VERA
Polycythemia vera (PV) is an acquired myeloproliferative disorder characterized by an elevated absolute red blood cell mass caused by uncontrolled red blood cell production, frequently associated with uncontrolled white blood cell and platelet production.
POLYCYTHEMIA VERA Is also known as polycythemia rubra vera|acquired primary erythrocytosis|prv|vaquez disease|osler-vaquez disease|pvRelated symptoms:
- Visual impairment
More info about POLYCYTHEMIA VERA
Medium match MASTOCYTOSIS, CUTANEOUS; MASTC
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 pigmentosaRelated symptoms:
More info about MASTOCYTOSIS, CUTANEOUS; MASTC
Other less relevant matches:
Medium match LIG4 SYNDROME
LIG4 syndrome is a hereditary disorder associated with impaired DNA double-strand break repair mechanisms and characterized by microcephaly, unusual facial features, growth and developmental delay, skin anomalies, and pancytopenia, which is associated with combined immunodeficiency (CID).
LIG4 SYNDROME Is also known as dna ligase iv deficiency|ligase 4 syndromeRelated symptoms:
- Intellectual disability
- Global developmental delay
- Growth delay
More info about LIG4 SYNDROME
Zur Stadt et al. (2005) summarized the clinical features of hemophagocytic lymphohistiocytosis (HLH), a rare autosomal recessive disorder characterized by massive infiltration of several organs by activated lymphocytes and macrophages. The clinical features of the disease include fever, hepatosplenomegaly, cytopenia, and less frequently central nervous system involvement. In FHL, the familial form of the disease, first episodes occur mostly during infancy, with a rapidly fatal outcome if untreated. Diagnostic criteria also include low fibrinogen and high triglyceride and ferritin levels. Chemoimmunotherapy based on corticosteroids, epipodophyllotoxins, and cyclosporin succeeds in controlling the disease in the majority of patients, although remission is rarely obtained (Henter et al., 2002). Most patients suffer an early death unless they are treated by hematopoietic stem cell transplantation (Durken et al., 1999).
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 1; FHL1 Is also known as hemophagocytic reticulosis, familial|hlh1|hemophagocytic lymphohistiocytosis, familial|erythrophagocytic lymphohistiocytosis, familial|reticulosis, familial histiocytic|hplh1|fhl|fhlh|hplh|felRelated symptoms:
- Global developmental delay
- Generalized hypotonia
More info about HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 1; FHL1
Medium match DEAFNESS-LYMPHEDEMA-LEUKEMIA SYNDROME
Deafness - lymphedema - leukemia is a very rare, serious syndromic genetic disorder characterized by primary lymphedema, immunodeficiency, and hematological disorders.
DEAFNESS-LYMPHEDEMA-LEUKEMIA SYNDROME Is also known as emberger syndromeRelated symptoms:
- Hearing impairment
- Sensorineural hearing impairment
More info about DEAFNESS-LYMPHEDEMA-LEUKEMIA SYNDROME
Medium match SHWACHMAN-DIAMOND SYNDROME
Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation.
SHWACHMAN-DIAMOND SYNDROME Is also known as pancreatic insufficiency and bone marrow dysfunction|shwachman syndrome|shwachman-bodian syndrome|shwachman-diamond syndrome|shwachman-bodian-diamond syndrome|sds|lipomatosis of pancreas, congenitalRelated symptoms:
- Intellectual disability
- Global developmental delay
- Short stature
- Generalized hypotonia
More info about SHWACHMAN-DIAMOND SYNDROME
Medium match NOONAN SYNDROME
Medium match CHRONIC EOSINOPHILIC LEUKEMIA
Medium match CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE II
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 (hempRelated symptoms:
- Congestive heart failure
More info about CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE II
Top 5 symptoms//phenotypes associated to Hepatomegaly and Acute leukemia
|Symptoms // Phenotype||% cases|
|Leukemia||Common - Between 50% and 80% cases|
|Thrombocytopenia||Common - Between 50% and 80% cases|
|Splenomegaly||Common - Between 50% and 80% cases|
|Myeloproliferative disorder||Common - Between 50% and 80% cases|
|Myelodysplasia||Uncommon - Between 30% and 50% cases|
Other less frequent symptoms
Patients with Hepatomegaly and Acute leukemia. may also develop some of the following symptoms:
Uncommon Symptoms - Between 30% and 50% casesNeoplasm Anemia Hepatosplenomegaly Lymphadenopathy Leukopenia Recurrent infections Pancytopenia Leukocytosis Immunodeficiency Bruising susceptibility Venous thrombosis Epicanthus Arrhythmia Malabsorption Cirrhosis Hypertension Bone marrow hypocellularity Abnormality of the skeletal system Pruritus Erythema Weight loss Intellectual disability Global developmental delay Headache Growth delay Fatigue Prolonged bleeding time Lymphoma Failure to thrive Vertigo Abnormality of the nervous system Myeloid leukemia
Rare Symptoms - Less than 30% casesIchthyosis Sepsis Telangiectasia Neurological speech impairment Jaundice Nausea and vomiting Generalized hypotonia Skin rash Myalgia Gastroesophageal reflux Webbed neck Sensorineural hearing impairment Severe combined immunodeficiency Hearing impairment Elevated hepatic transaminase Granulocytopenia Hyperbilirubinemia Increased total bilirubin Fever Mastocytosis Hemolytic anemia Combined immunodeficiency Muscular hypotonia Eosinophilia Micrognathia Cryptorchidism Pulmonary infiltrates Clinodactyly of the 5th finger Edema Pain Lymphedema Pectus carinatum Delayed skeletal maturation Gastrointestinal hemorrhage Arthralgia Abdominal pain Respiratory insufficiency Increased megakaryocyte count Myelofibrosis Scoliosis Abnormality of bone marrow cell morphology Arterial thrombosis Thrombocytosis Pulmonary embolism Myocardial infarction Respiratory distress Portal hypertension Abnormality of the liver Increased hemoglobin Short stature Acute myeloid leukemia Dysarthria Ptosis High, narrow palate Recurrent viral infections Thick vermilion border Joint hypermobility Joint hyperflexibility Delayed puberty Acute monocytic leukemia Abnormal bleeding Pulmonic stenosis Broad forehead Recurrent aphthous stomatitis Hypertelorism Sparse hair Triangular face Ovoid vertebral bodies Aplastic anemia Strabismus Muscle weakness Neonatal respiratory distress Short thorax Low posterior hairline Coarctation of aorta Steatorrhea Nystagmus Anterior rib cupping Multiple lipomas Mitral valve prolapse Tetralogy of Fallot Wide intermamillary distance Otitis media Exocrine pancreatic insufficiency Dental malocclusion Metaphyseal chondrodysplasia Metaphyseal sclerosis Irregular ossification at anterior rib ends Metaphyseal dysostosis Pectus excavatum Abnormality of cardiovascular system morphology Midface retrusion Atrial septal defect Short neck Talipes equinovarus Feeding difficulties Patent ductus arteriosus Enlargement of the costochondral junction Myocardial necrosis Ventricular septal defect Proximal femoral metaphyseal irregularity Dysphagia Downslanted palpebral fissures Myopia Clinodactyly Paroxysmal nocturnal hemoglobinuria Brachydactyly Hydronephrosis High palate Postnatal growth retardation Persistence of hemoglobin F Narrow sacroiliac notch Feeding difficulties in infancy Low-set, posteriorly rotated ears Hypertrophic cardiomyopathy Abnormal facial shape Thick lower lip vermilion Proximal femoral epiphysiolysis Kyphoscoliosis High forehead Polyhydramnios Proptosis Hypogonadism Constipation Coarse facial features Atrioventricular canal defect Mitral regurgitation Pulmonary lymphangiectasia Neurofibrosarcoma Amegakaryocytic thrombocytopenia Prominent nasolabial fold Superior pectus carinatum Hyperkeratosis pilaris Reduced factor XII activity Reduced factor XI activity Abnormal platelet function Reduced factor VIII activity Abnormal location of ears Abnormal pulmonary valve morphology Prominent fingertip pads Unilateral ptosis Intestinal lymphangiectasia Abnormality of the mandible Prolonged QRS complex Multiple lentigines Abnormality of the lymphatic system Chylothorax Puberty and gonadal disorders Hypoplasia of lymphatic vessels Abnormal hair quantity Congestive heart failure Endopolyploidy on chromosome studies of bone marrow Increased red cell osmotic fragility Congenital hypoplastic anemia Chronic myelogenous leukemia Anemia of inadequate production Gout Reticulocytosis Prolonged neonatal jaundice Cholelithiasis Endocardial fibrosis Aplasia of the semicircular canal Restrictive cardiomyopathy Abnormality of the vestibular nerve Prominent digit pad Aplasia of lymphatic vessels Abnormal atrial septum morphology Abnormal lymphatic vessel morphology Abnormal anterior segment morphology Abnormal nipple morphology Morphological abnormality of the inner ear Synovitis Enlarged thorax Abnormality of the genital system Radioulnar synostosis Abnormality of coagulation Myopathic facies Cubitus valgus Melanocytic nevus Pleural effusion Abnormality of the thorax Failure to thrive in infancy Bilateral ptosis Abnormality of the urinary system Cystic hygroma Coarse hair Arnold-Chiari malformation Abnormal dermatoglyphics Scapular winging Hypogonadotrophic hypogonadism Aortic valve stenosis Cafe-au-lait spot Amblyopia Decreased body weight Coxa vara Abnormality of digit Abnormality of the pulmonary artery Abnormality of the helix Elevated circulating luteinizing hormone level Shield chest Thickened helices Abnormal mitral valve morphology Aplasia/Hypoplasia of the abdominal wall musculature Abnormality of the spleen Redundant neck skin Elevated circulating follicle stimulating hormone level Abnormality of refraction Abnormality of the testis Male infertility High anterior hairline Premature skin wrinkling Thickened nuchal skin fold Abnormality of the mouth Pulmonary artery stenosis Acute lymphoblastic leukemia Aortic root aneurysm Thoracic scoliosis Curly hair Metaphyseal widening Visual loss Recurrent bacterial infections Flushing Impaired temperature sensation Asthenia Immunologic hypersensitivity Gastrointestinal stroma tumor Hypersplenism Generalized osteosclerosis Allergy Abnormality of blood and blood-forming tissues Food intolerance Hypermelanotic macule Loss of consciousness Urticaria Sarcoma Shock Osteolysis Bone pain Abnormal blistering of the skin Abnormal eosinophil morphology Abnormality of the gastric mucosa Asthma Hypothyroidism Psoriasiform dermatitis Low anterior hairline Cutaneous photosensitivity Type II diabetes mellitus Hypoplasia of penis Thin vermilion border Telecanthus Brachycephaly Dermatographic urticaria Upslanted palpebral fissure Wide nasal bridge Delayed speech and language development Microcephaly Telangiectasia macularis eruptiva perstans Chronic leukemia Anaphylactic shock Cutaneous mastocytosis Hypotension Sudden cardiac death Biparietal narrowing Amaurosis fugax Epistaxis Stroke Visual impairment Abnormal platelet aggregation Decreased mean platelet volume Abnormal platelet morphology Bloody diarrhea Impaired platelet aggregation Cerebral hemorrhage Abnormal thrombocyte morphology Abnormality of the cerebral vasculature Gangrene Acrocyanosis Transient ischemic attack Chest pain Paresthesia Dyspnea Tinnitus Polycythemia Ascites Budd-Chiari syndrome Recurrent fractures Tachycardia Nausea Papule Osteoporosis Diarrhea Elevated leukocyte alkaline phosphatase Increased red blood cell mass Increased hematocrit Thromboembolism Portal vein thrombosis Erythroid hyperplasia Intermittent claudication Abnormal thrombosis Cerebral ischemia Angina pectoris Deep venous thrombosis Gingival bleeding Telangiectasia of the skin Abnormality of chromosome stability Nephrocalcinosis Tapered finger Verrucae Hypercoagulability Cellulitis Chronic otitis media Intracranial hemorrhage Hypotelorism Migraine Hematuria Erysipelas Scarring Pallor Respiratory failure Recurrent respiratory infections Syndactyly Cerebellar atrophy Abnormal natural killer cell physiology Lipogranulomatosis Abnormality of the optic nerve Macronodular cirrhosis Polyneuritis Generalized muscle weakness Type I diabetes mellitus Short ribs Decreased liver function Abnormality of the metaphysis Apraxia Eczema Microdontia Specific learning disability Neutropenia Abnormal neutrophil count Carious teeth Narrow chest Small for gestational age Respiratory tract infection Skeletal dysplasia Osteopenia Intellectual disability, mild Gait disturbance Plasmacytosis CSF pleocytosis Bird-like facies Tetraplegia Increased intracranial pressure Purpura Meningitis Aspiration Hypertriglyceridemia Peripheral demyelination Gliosis Coma Hypoalbuminemia Hepatic failure Confusion Irritability Encephalopathy Hypertonia Ataxia Seizures Large beaked nose Encephalitis Hemiplegia Hypofibrinogenemia Decreased HDL cholesterol concentration Increased VLDL cholesterol concentration T-cell lymphoma Partial albinism Increased LDL cholesterol concentration Hemophagocytosis Histiocytosis Cellular immunodeficiency Prolonged prothrombin time Generalized edema Hyponatremia Prolonged partial thromboplastin time Hypoproteinemia Increased serum ferritin Increased CSF protein Episodic fever Increased antibody level in blood Abnormality of the coagulation cascade Albinism Reduced activity of N-acetylglucosaminyltransferase II
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