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.

Top matches:

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|et

Related symptoms:

  • Pain
  • Hypertension
  • Hepatomegaly
  • Abnormality of the skeletal system
  • Respiratory distress


SOURCES: ORPHANET OMIM MENDELIAN

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|pv

Related symptoms:

  • Neoplasm
  • Visual impairment
  • Hypertension
  • Hepatomegaly
  • Fatigue


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about POLYCYTHEMIA VERA

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

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 syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Growth delay
  • Micrognathia


SOURCES: OMIM MESH ORPHANET MENDELIAN

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). Genetic Heterogeneity of Familial Hemophagocytic LymphohistiocytosisFamilial hemophagocytic lymphohistiocytosis exhibits genetic heterogeneity. In some families, familial hemophagocytic lymphohistiocytosis has been found to be linked to chromosome 9q (HPLH1, FHL1). FHL2 (OMIM ) is caused by mutation in the PRF1 gene (OMIM ) on chromosome 10q22; FHL3 (OMIM ) is caused by mutation in the UNC13D gene (OMIM ) on chromosome 17q25; FHL4 (OMIM ) is caused by mutation in the syntaxin-11 gene (STX11 ) on chromosome 6q24; and FHL5 (OMIM ) is caused by mutation in the syntaxin-binding protein-2 (STXBP2 ), which is an interaction partner of STX11, on chromosome 19p13.Furthermore, before the identification of mutations in the RAG1 (OMIM ) and RAG2 (OMIM ) genes, both of which map to 11p, Omenn syndrome (familial reticuloendotheliosis with eosinophilia; {603554}) was not thought to be clearly distinct from other reported cases of hemophagocytic lymphohistiocytosis.

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|fel

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Neoplasm


SOURCES: OMIM MENDELIAN

More info about HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 1; FHL1

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 syndrome

Related symptoms:

  • Hearing impairment
  • Neoplasm
  • Sensorineural hearing impairment
  • Anemia
  • Epicanthus


SOURCES: OMIM ORPHANET MENDELIAN

More info about DEAFNESS-LYMPHEDEMA-LEUKEMIA 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, congenital

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about SHWACHMAN-DIAMOND SYNDROME

Medium match NOONAN SYNDROME

Noonan Syndrome (NS) is characterised by short stature, typical facial dysmorphism and congenital heart defects.

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Growth delay


SOURCES: ORPHANET MENDELIAN

More info about NOONAN SYNDROME

Related symptoms:

  • Hepatomegaly
  • Splenomegaly
  • Myalgia
  • Abnormality of the nervous system
  • Pruritus


SOURCES: ORPHANET OMIM MENDELIAN

More info about CHRONIC EOSINOPHILIC LEUKEMIA

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

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% cases

Neoplasm 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% cases

Ichthyosis 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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