Hepatomegaly, and Myeloid leukemia

Diseases related with Hepatomegaly and Myeloid leukemia

In the following list you will find some of the most common rare diseases related to Hepatomegaly and Myeloid 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

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

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:

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 FANCONI ANEMIA

Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.

FANCONI ANEMIA Is also known as fanconi pancytopenia|fanconi anemia|fa

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about FANCONI ANEMIA

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

Juvenile myelomonocytic leukemia is an aggressive pediatric myelodysplastic syndrome (MDS)/myeloproliferative disorder (MPD) characterized by malignant transformation in the hematopoietic stem cell compartment with proliferation of differentiated progeny (Loh et al., 2009). JMML constitutes approximately 30% of childhood cases of myelodysplastic syndrome and 2% of leukemia (Hasle et al., 1999). Although JMML is a progressive and often rapidly fatal disease without hematopoietic stem cell transplantation (HSCT), some patients have been shown to have a prolonged and stable clinical course without HSCT (Niemeyer et al., 1997). Chronic myelomonocytic leukemia (CMML) is a similar disorder with later onset. Both JMML and CMML have a high frequency of mutations affecting the RAS signaling pathway and show hypersensitivity to stimulation with GM-CSF, which causes STAT5 (OMIM ) hyperphosphorylation (Loh et al., 2009). Genetic Heterogeneity of Juvenile Myelomonocytic LeukemiaIn up to 60% of cases of JMML, the RAS/MAPK pathway is deregulated due to somatic mutations in the PTPN11 (OMIM ), KRAS (OMIM ), and NRAS (OMIM ) genes. Additionally, both germline and somatic mutations in the CBL gene have been found in patients with JMML, indicating a frequency of 10 to 15% of JMML patients overall (Loh et al., 2009). Somatic disruptions of the GRAF gene (ARHGAP26 ) have also been found in patients with JMML.About 10 to 15% of JMML cases arise in children with neurofibromatosis type I (NF1 ) due to germline mutations in the NF1 gene (OMIM ). In addition, patients with Noonan syndrome (NS1, {163950}; NS3, {609942}) or Noonan syndrome-like disorder (NSLL ) due to germline mutations in the PTPN11, KRAS2, and CBL genes, respectively, also have an increased risk of developing JMML. Genetic Heterogeneity of Chronic Myelomonocytic LeukemiaSomatic mutations in the CBL, ASXL1 (OMIM ), TET2 (OMIM ), and SF3B1 (OMIM ) genes have been found in patients with CMML.

JUVENILE MYELOMONOCYTIC LEUKEMIA Is also known as juvenile chronic myelomonocytic leukemia|jmml|leukemia, juvenile myelomonocytic

Related symptoms:

  • Generalized hypotonia
  • Abnormal facial shape
  • Anemia
  • Anteverted nares
  • Splenomegaly


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about JUVENILE MYELOMONOCYTIC LEUKEMIA

Severe congenital neutropenia-3 is an autosomal recessive bone marrow failure disorder characterized by low numbers of neutrophils, increased susceptibility to bacterial and fungal infections, and increased risk of developing myelodysplastic syndrome or acute myeloid leukemia. In addition, patients with HAX1 mutations affecting both isoform A and B of the gene develop neurologic abnormalities (summary by Boztug et al., 2010).The Swedish physician Rolf Kostmann (1956) described an autosomal recessive hematologic disorder, termed infantile agranulocytosis, with severe neutropenia with an absolute neutrophil count below 0.5 x 10(9)/l and early onset of severe bacterial infections. The disorder was later termed Kostmann syndrome (Skokowa et al., 2007). Lekstrom-Himes and Gallin (2000) discussed severe congenital neutropenia in a review of immunodeficiencies caused by defects in phagocytes.In addition to Kostmann agranulocytosis, recessively inherited neutropenic syndromes include congenital neutropenia with eosinophilia (OMIM ), Chediak-Higashi syndrome (OMIM ), and Fanconi pancytopenic syndrome (see {227650}).For a phenotypic description and a discussion of genetic heterogeneity of severe congenital neutropenia, see SCN1 (OMIM ).

NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE; SCN3 Is also known as agranulocytosis, infantile|kostmann disease

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE; SCN3

LEUKEMIA, ACUTE MYELOID; AML Is also known as leukemia, acute myelogenous

Related symptoms:

  • Seizures
  • Neoplasm
  • Pain
  • Anemia
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about LEUKEMIA, ACUTE MYELOID; AML

Ataxia-pancytopenia syndrome is a rare genetic disease characterized by cerebellar ataxia, cytopenias and predisposition to bone marrow failure and myeloid leukaemia. Neurologic features variably include slowly progressive cerebellar ataxia or balance impairment with cerebellar atrophy and periventricular white matter T2 hyperintensities in brain MRI, horizontal and vertical nystagmus, dysmetria, dysarthria, pyramidal tract signs and reduced nerve conduction velocity. Hematological abnormalities are variable and may be intermittent and include cytopenias of all cell lineages, immunodeficiency, myelodysplasia and acute myeloid leukemia.

ATAXIA-PANCYTOPENIA SYNDROME Is also known as myelocerebellar disorder

Related symptoms:

  • Microcephaly
  • Scoliosis
  • Ataxia
  • Nystagmus
  • Anemia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ATAXIA-PANCYTOPENIA SYNDROME

Top 5 symptoms//phenotypes associated to Hepatomegaly and Myeloid leukemia

Symptoms // Phenotype % cases
Leukemia Very Common - Between 80% and 100% cases
Myelodysplasia Very Common - Between 80% and 100% cases
Acute myeloid leukemia Common - Between 50% and 80% cases
Anemia Common - Between 50% and 80% cases
Splenomegaly Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Thrombocytopenia

Uncommon Symptoms - Between 30% and 50% cases

Bone marrow hypocellularity Neoplasm Fever Fatigue Pancytopenia Leukopenia Respiratory distress Neutropenia Bruising susceptibility Myeloproliferative disorder Leukocytosis Acute monocytic leukemia Thrombocytosis Intellectual disability Recurrent infections Abnormality of the nervous system Cerebellar atrophy Weight loss Respiratory failure Scoliosis Global developmental delay Recurrent bacterial infections Sepsis Hearing impairment Pain Ataxia Vertigo Abnormality of the skeletal system Headache Hepatosplenomegaly Acute leukemia

Rare Symptoms - Less than 30% cases

Monocytosis Granulocytopenia Hematuria Hyperreflexia Prolonged bleeding time Abnormal facial shape Type I diabetes mellitus Nystagmus Hypertension Lymphoma Microcephaly Telangiectasia Renal insufficiency Poor appetite Abnormality of blood and blood-forming tissues Chest pain Irritability Seizures Aplastic anemia Confusion Acute myelomonocytic leukemia Hemolytic anemia Night sweats Lymphadenopathy Dyspnea Immunodeficiency Epicanthus Short stature Recurrent respiratory infections Generalized hypotonia Small for gestational age Growth delay Persistence of hemoglobin F Failure to thrive Gait disturbance Hypoplastic anemia Chronic myelogenous leukemia Scarring Neurological speech impairment Irregular hyperpigmentation Aplasia/Hypoplasia of the radius Multiple cafe-au-lait spots Absent radius Absent thumb Abnormality of chromosome stability Abnormal localization of kidney Abnormal aortic valve morphology Abnormal renal morphology External ear malformation Hearing abnormality Abnormality of the hypothalamus-pituitary axis Chromosome breakage Abnormal eyelid morphology Abnormality of femur morphology Abnormality of the ulna Arteriovenous malformation Bicornuate uterus B-cell lymphoma Abnormality of the upper limb Abnormality of the uterus Abnormality of the thumb Abnormality of the testis Myelofibrosis Triphalangeal thumb Hydroureter Abnormality of skin pigmentation Abnormality of the genital system Choanal atresia Short palpebral fissure Oligohydramnios Sloping forehead Tetralogy of Fallot Renal agenesis Hypopigmentation of the skin Astigmatism Recurrent urinary tract infections Anal atresia Facial asymmetry Abnormality of the foot Toe syndactyly Dolichocephaly Hip dislocation Finger syndactyly Abnormal cardiac septum morphology Aganglionic megacolon Cafe-au-lait spot Ectopic kidney Reduced bone mineral density Squamous cell carcinoma Hypoplasia of the ulna Glucose intolerance Tracheoesophageal fistula Abnormal aortic morphology Hyperinsulinemia Abnormality of the urinary system Abnormality of vision Hypopigmented skin patches Short thumb Renal hypoplasia/aplasia Cranial nerve paralysis Azoospermia Horseshoe kidney Hypergonadotropic hypogonadism Spina bifida Abnormal vertebral morphology Insulin resistance Reticulocytopenia Partial duplication of thumb phalanx Abnormality of nervous system morphology Neuroblastoma Gait ataxia Babinski sign Dysarthria Acute promyelocytic leukemia Chronic pain Ecchymosis Gingival bleeding Petechiae Dysmetria Menorrhagia Sarcoma Coma Agranulocytosis Tonsillitis Congenital neutropenia Acute lymphoblastic leukemia Abnormality of the cerebral white matter Unsteady gait Eosinophilia Ankle clonus Increased sensitivity to ionizing radiation Abnormal platelet function Vertical nystagmus Abnormality of neutrophils Gait imbalance Hyperactive deep tendon reflexes Impaired vibration sensation in the lower limbs Aplasia/Hypoplasia of the cerebellum Distal sensory impairment Decreased nerve conduction velocity Incoordination Clonus Decreased antibody level in blood Gliosis Progressive cerebellar ataxia Postural instability Increased antibody level in blood Meningitis Primary hypothyroidism Decreased fertility in males Anemic pallor Prolonged G2 phase of cell cycle Abnormal carotid artery morphology Almond-shaped palpebral fissure Compensated hypothyroidism Absent testis Chromosomal breakage induced by crosslinking agents Clubbing of toes Neoplasm of head and neck Postnatal growth retardation Complete duplication of thumb phalanx Aplasia/Hypoplasia of the iris Low-grade fever Meckel diverticulum Duplicated collecting system Duodenal stenosis Deficient excision of UV-induced pyrimidine dimers in DNA Aplasia/Hypoplasia of the uvula Clumsiness Facial hypotonia Otitis media Peripheral neuropathy Motor delay Spasticity Chronic myelomonocytic leukemia Juvenile myelomonocytic leukemia Refractory anemia Neurofibromas Aplasia/Hypoplasia of fingers Narrow mouth Anteverted nares Ph-positive acute lymphoblastic leukemia Abnormal basophil morphology Reduced leukocyte alkaline phosphatase Abnormal granulocyte morphology Abnormality of the preputium Pyridoxine-responsive sideroblastic anemia Abnormality of the liver Atrial septal defect Abnormality of the kidney Nephropathy Tachypnea Cerebral palsy Paresthesia Bone pain Cholestasis Cardiomegaly Hepatic failure Osteomyelitis Cough Stroke Retinopathy Rigidity Jaundice Abdominal pain Osteoporosis Cholelithiasis Microcytic anemia Abnormal neutrophil count Hypoxemia Unconjugated hyperbilirubinemia Chronic hemolytic anemia Hypochromic anemia Microalbuminuria Abnormal hemoglobin Abnormality of the spleen Left ventricular failure Increased mean corpuscular volume Wheezing Atelectasis Asplenia Elevated serum creatinine Abnormality of the vasculature Reticulocytosis Aseptic necrosis Iron deficiency anemia Pneumonia Macronodular cirrhosis Abnormal lactate dehydrogenase activity Abnormal thrombocyte morphology Gangrene Syndactyly Abnormality of the cerebral vasculature Edema Respiratory insufficiency Arterial thrombosis Impaired platelet aggregation Acrocyanosis Sensorineural hearing impairment Amaurosis fugax Abnormality of bone marrow cell morphology Increased megakaryocyte count Abnormal platelet aggregation Decreased mean platelet volume Abnormal platelet morphology Visual loss Transient ischemic attack Erysipelas Venous thrombosis Abnormality of the optic nerve Verrucae Hypercoagulability Myocardial infarction Cellulitis Chronic otitis media Intracranial hemorrhage Lymphedema Pallor Pulmonary embolism Hypotelorism Webbed neck Migraine Tapered finger Cirrhosis Nausea and vomiting Pure red cell aplasia Increased lactate dehydrogenase activity Abnormality of the eye Cataract Frontal bossing Intrauterine growth retardation Visual impairment High palate Ptosis Cryptorchidism Cleft palate Hydrocephalus Strabismus Micrognathia Hypertelorism Irregular ossification at anterior rib ends Narrow sacroiliac notch Proximal femoral epiphysiolysis Metaphyseal dysostosis Ventriculomegaly Bloody diarrhea Proximal femoral metaphyseal irregularity Upslanted palpebral fissure Hypertrophic cardiomyopathy Carcinoma Pes planus Umbilical hernia Hypothyroidism Proptosis Diabetes mellitus Hypogonadism Congestive heart failure Severe short stature Clinodactyly of the 5th finger Abnormal heart morphology Patent ductus arteriosus Hypospadias Abnormality of cardiovascular system morphology Microphthalmia Myocardial necrosis Enlargement of the costochondral junction Priapism Pectus carinatum Specific learning disability Generalized muscle weakness Ichthyosis Carious teeth Narrow chest Malabsorption Respiratory tract infection Eczema Elevated hepatic transaminase Skeletal dysplasia Osteopenia Delayed skeletal maturation Intellectual disability, mild Increased red cell sickling tendency Pigment gallstones Microdontia Apraxia Paroxysmal nocturnal hemoglobinuria Multiple lipomas Metaphyseal sclerosis Anterior rib cupping Metaphyseal chondrodysplasia Recurrent aphthous stomatitis Recurrent viral infections Ovoid vertebral bodies Exocrine pancreatic insufficiency Steatorrhea Abnormality of the metaphysis Short thorax Neonatal respiratory distress Metaphyseal widening Coxa vara Nephrocalcinosis Short ribs Decreased liver function Abnormal macrophage morphology


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