Hepatomegaly, and Acute myeloid leukemia

Diseases related with Hepatomegaly and Acute myeloid leukemia

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

Top matches:

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

High 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

Other less relevant matches:

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

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

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

Hoyeraal-Hreidarsson syndrome (HHS) is a very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita (see this term) characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia.

HOYERAAL-HREIDARSSON SYNDROME Is also known as progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome|zinsser-cole-engman syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about HOYERAAL-HREIDARSSON SYNDROME

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

Top 5 symptoms//phenotypes associated to Hepatomegaly and Acute myeloid leukemia

Symptoms // Phenotype % cases
Myelodysplasia Very Common - Between 80% and 100% cases
Myeloid leukemia Very Common - Between 80% and 100% cases
Leukemia Very Common - Between 80% and 100% cases
Anemia Common - Between 50% and 80% cases
Pancytopenia Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Hepatomegaly and Acute 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

Common Symptoms - More than 50% cases

Leukopenia

Uncommon Symptoms - Between 30% and 50% cases

Neoplasm Splenomegaly Respiratory distress Headache Intellectual disability Global developmental delay Ataxia Acute monocytic leukemia Neutropenia Seizures Bruising susceptibility Hepatosplenomegaly Vertigo Hearing impairment Weight loss Thrombocytosis Cerebellar atrophy Aplastic anemia Small for gestational age Microcephaly Fever Abnormality of the skeletal system Failure to thrive Growth delay Scoliosis Generalized hypotonia Short stature Fatigue Acute leukemia Myeloproliferative disorder Sepsis Recurrent infections Telangiectasia Immunodeficiency

Rare Symptoms - Less than 30% cases

Nystagmus Monocytosis Acute myelomonocytic leukemia Cryptorchidism Cataract Abnormal facial shape Strabismus Hyperhidrosis Paresthesia Hypoplastic anemia Abnormality of the nervous system Dyspnea Dysarthria Neonatal respiratory distress Recurrent bacterial infections Gliosis Visual impairment Chest pain Chromosome breakage Hypospadias Lymphoma Hypopigmentation of the skin Abnormality of skin pigmentation Transient ischemic attack Postnatal growth retardation Carcinoma Increased antibody level in blood Oligohydramnios Arterial thrombosis Ventriculomegaly Intrauterine growth retardation Hyperreflexia Pain Horseshoe kidney Venous thrombosis Type I diabetes mellitus Squamous cell carcinoma Gait disturbance Scarring Granulocytopenia Epicanthus Neurological speech impairment Carious teeth Cirrhosis Lymphadenopathy Leukocytosis Prolonged bleeding time Respiratory failure Recurrent respiratory infections Peripheral arterial stenosis Syndactyly Cerebral ischemia Chronic myelogenous leukemia Respiratory insufficiency Visual field defect Confusion Coma Sarcoma Edema Specific learning disability Menorrhagia Dysmetria Clonus Decreased antibody level in blood Sensorineural hearing impairment Progressive cerebellar ataxia Postural instability Distal sensory impairment Unsteady gait Abnormality of the cerebral white matter Petechiae Gait ataxia Babinski sign Acute promyelocytic leukemia Chronic pain Night sweats Ecchymosis Gingival bleeding Visual loss Neuroblastoma Abnormal bleeding Spontaneous abortion Anteverted nares Juvenile myelomonocytic leukemia Tapered finger Refractory anemia Facial hypotonia Neurofibromas Narrow mouth Abnormality of the preputium Chronic myelomonocytic leukemia Pyridoxine-responsive sideroblastic anemia Aplasia/Hypoplasia of fingers Aplasia/Hypoplasia of the uvula Neoplasm of head and neck Deficient excision of UV-induced pyrimidine dimers in DNA Anemic pallor Prolonged G2 phase of cell cycle Hematuria Hemolytic anemia Pulmonary arterial hypertension Congenital neutropenia Syncope Decreased nerve conduction velocity Pruritus Pallor Agranulocytosis Tonsillitis Acute lymphoblastic leukemia Spasticity Nausea and vomiting Eosinophilia Meningitis Clumsiness Otitis media Peripheral neuropathy Motor delay Incoordination Ankle clonus Aplasia/Hypoplasia of the cerebellum Urethral stenosis Brittle scalp hair Reticulated skin pigmentation Phimosis Abnormal leukocyte morphology Pancreatic adenocarcinoma Reticular hyperpigmentation Lacrimal duct stenosis Generalized hypopigmentation of hair Keratoconjunctivitis Esophageal stricture Excessive wrinkled skin Testicular atrophy Ridged nail Oral leukoplakia Blepharitis Fragile teeth Split nail Hodgkin lymphoma Impaired platelet aggregation Abnormal platelet aggregation Decreased mean platelet volume Abnormal platelet morphology Bloody diarrhea Myelofibrosis Abnormality of bone marrow cell morphology Amaurosis fugax Abnormal thrombocyte morphology Pterygium of nails Abnormality of the cerebral vasculature Gangrene Acrocyanosis Pulmonary embolism Myocardial infarction Hypertension Anal mucosal leukoplakia Premature loss of teeth Generalized hyperpigmentation Almond-shaped palpebral fissure Optic atrophy Cerebral cortical atrophy Osteoporosis Cerebellar hypoplasia Alopecia Hyporeflexia Abnormality of the dentition Hypertonia Abnormal macrophage morphology Nail dystrophy 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 Muscular hypotonia of the trunk Gastrointestinal hemorrhage Restrictive ventilatory defect Anosmia Abnormality of coagulation Premature graying of hair Pulmonary fibrosis Flared metaphysis Epiphora Pterygium Dermal atrophy Abnormal intestine morphology Decreased testicular size Sparse eyelashes Conjunctivitis Truncal ataxia Hyperpigmentation of the skin Sparse scalp hair Decreased fetal movement Cerebral calcification Abnormal carotid artery morphology Chromosomal breakage induced by crosslinking agents Compensated hypothyroidism Hydrocephalus Abnormality of the optic nerve Abnormality of cardiovascular system morphology Microphthalmia Renal insufficiency Congestive heart failure Atrial septal defect Erysipelas Abnormal heart morphology Frontal bossing Macronodular cirrhosis Abnormal neutrophil count High palate Ptosis Intellectual disability, mild Delayed skeletal maturation Patent ductus arteriosus Clinodactyly of the 5th finger Osteopenia Hypertrophic cardiomyopathy Finger syndactyly Abnormal cardiac septum morphology Abnormality of the liver Hypercoagulability Irritability Abnormality of the kidney Abnormality of the eye Verrucae Severe short stature Pes planus Umbilical hernia Hypothyroidism Proptosis Diabetes mellitus Upslanted palpebral fissure Hypogonadism Cleft palate Skeletal dysplasia Dolichocephaly Coxa vara Ovoid vertebral bodies Exocrine pancreatic insufficiency Multiple lipomas Steatorrhea Short thorax Metaphyseal widening Ichthyosis Recurrent viral infections Nephrocalcinosis Generalized muscle weakness Short ribs Decreased liver function Abnormality of the metaphysis Apraxia Eczema Narrow chest Malabsorption Micrognathia Metaphyseal dysostosis Elevated hepatic transaminase Hypertelorism Respiratory tract infection Pectus carinatum Irregular ossification at anterior rib ends Narrow sacroiliac notch Proximal femoral epiphysiolysis Myocardial necrosis Recurrent aphthous stomatitis Proximal femoral metaphyseal irregularity Enlargement of the costochondral junction Paroxysmal nocturnal hemoglobinuria Persistence of hemoglobin F Metaphyseal sclerosis Anterior rib cupping Metaphyseal chondrodysplasia Hip dislocation Toe syndactyly Absent testis B-cell lymphoma Abnormality of femur morphology Bicornuate uterus Abnormality of the thumb Abnormality of the testis Abnormality of the uterus Abnormality of the upper limb Arteriovenous malformation Abnormal aortic valve morphology Abnormality of the ulna Abnormal eyelid morphology Webbed neck Hearing abnormality External ear malformation Irregular hyperpigmentation Aplasia/Hypoplasia of the radius Abnormality of the hypothalamus-pituitary axis Abnormal renal morphology Abnormality of blood and blood-forming tissues Low-grade fever Migraine Microdontia Decreased fertility in males Clubbing of toes Partial duplication of thumb phalanx Complete duplication of thumb phalanx Aplasia/Hypoplasia of the iris Meckel diverticulum Abnormal localization of kidney Duplicated collecting system Duodenal stenosis Primary hypothyroidism Abnormality of nervous system morphology Abnormal aortic morphology Reticulocytopenia Abnormality of chromosome stability Absent radius Multiple cafe-au-lait spots Abnormality of the foot Short palpebral fissure Short thumb Cafe-au-lait spot Intracranial hemorrhage Recurrent urinary tract infections Aganglionic megacolon Abnormality of the genital system Choanal atresia Chronic otitis media Abnormal vertebral morphology Sloping forehead Tetralogy of Fallot Renal agenesis Cellulitis Astigmatism Anal atresia Facial asymmetry Insulin resistance Spina bifida Absent thumb Hyperinsulinemia Hydroureter Ectopic kidney Hypotelorism Hypoplasia of the ulna Glucose intolerance Tracheoesophageal fistula Triphalangeal thumb Abnormality of the urinary system Hypergonadotropic hypogonadism Abnormality of vision Reduced bone mineral density Hypopigmented skin patches Renal hypoplasia/aplasia Cranial nerve paralysis Azoospermia Lymphedema Increased megakaryocyte count


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