Leukemia, and Ascites

Diseases related with Leukemia and Ascites

In the following list you will find some of the most common rare diseases related to Leukemia and Ascites that can help you solving undiagnosed cases.

Top matches:

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

Cutis marmorata telangiectatica congenita (CMTC) is a congenital localized or generalized vascular anomaly characterized by a persistent cutis marmorata pattern with a marbled bluish to deep purple appearance, spider nevus-like telangiectasia, phlebectasia and, occasionally, ulceration and atrophy of the affected skin.

CUTIS MARMORATA TELANGIECTATICA CONGENITA Is also known as megalencephaly-cutis marmorata telangiectatica congenita|cmtc|mcmtc|megalencephaly-capillary malformation syndrome|macrocephaly-cutis marmorata telangiectatica congenita|mcm|macrocephaly-capillary malformation

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about CUTIS MARMORATA TELANGIECTATICA CONGENITA

Mosaic variegated aneuploidy (MVA) syndrome is a chromosomal anomaly characterized by multiple mosaic aneuploidies that leads to a variety of phenotypic abnormalities and cancer predisposition.

MOSAIC VARIEGATED ANEUPLOIDY SYNDROME Is also known as warburton-anyane-yeboa syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MOSAIC VARIEGATED ANEUPLOIDY SYNDROME

Other less relevant matches:

Adams-Oliver Syndrome (AOS) is a rare disorder characterized by the combination of congenital limb abnormalities and scalp defects, often accompanied by skull ossification defects.

ADAMS-OLIVER SYNDROME Is also known as aplasia cutis congenita with terminal transverse limb defects|congenital scalp defects with distal limb reduction anomalies|congenital scalp defects with distal limb anomalies|aos|absence defect of limbs, scalp, and skull|limb, scalp and skull defects

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about ADAMS-OLIVER SYNDROME

Noonan syndrome-like disorder with juvenile myelomonocytic leukemia is a rare, genetic, polymalformative syndrome with increased risk of developing cancer characterized by a Noonan-like phenotype, including typical dysmorphic facial features (i.e. high forehead, hypertelorism, downslanting palpebral fissures, ptosis, low-set ears, prominent philtrum and short neck with or without pterygium colli), thoracic abnormalities, congenital heart defects and short stature, associated with a very frequent ocurrence of juvenile myelomonocytic leukemia. Developmental delay, ectodermal anomalies, joint laxity, and hypotonia may also be associated.

NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA Is also known as cbl mutation-associated syndrome|noonan syndrome-like disorder with jmml|cbl syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA

Lymphoproliferative syndrome-2, also known as CD27 deficiency, is an autosomal recessive immunodeficiency disorder associated with persistent symptomatic EBV viremia, hypogammaglobulinemia, and impairment in specific antibody function resulting from impaired T cell-dependent B-cell responses and T-cell dysfunction (summary by van Montfrans et al., 2012). The phenotype can vary significantly, from asymptomatic borderline-low hypogammaglobulinemia, to a full-blown symptomatic systemic inflammatory response with life-threatening EBV-related complications, including hemophagocytic lymphohistiocytosis, a lymphoproliferative disorder, and malignant lymphoma requiring stem cell transplantation (summary by Salzer et al., 2013).For a discussion of genetic heterogeneity of lymphoproliferative syndrome, see XLP1 (OMIM ).

LYMPHOPROLIFERATIVE SYNDROME 2; LPFS2 Is also known as cd27 deficiency

Related symptoms:

  • Neoplasm
  • Anemia
  • Hepatomegaly
  • Fever
  • Splenomegaly


SOURCES: OMIM MENDELIAN

More info about LYMPHOPROLIFERATIVE SYNDROME 2; LPFS2

Low match OVARIAN CANCER

Ovarian cancer, the leading cause of death from gynecologic malignancy, is characterized by advanced presentation with loco-regional dissemination in the peritoneal cavity and the rare incidence of visceral metastases (Chi et al., 2001). These typical features relate to the biology of the disease, which is a principal determinant of outcome (Auersperg et al., 2001). Epithelial ovarian cancer is the most common form and encompasses 5 major histologic subtypes: papillary serous, endometrioid, mucinous, clear cell, and transitional cell. Epithelial ovarian cancer arises as a result of genetic alterations sustained by the ovarian surface epithelium (Stany et al., 2008; Soslow, 2008).

Related symptoms:

  • Neoplasm
  • Pain
  • Fatigue
  • Respiratory distress
  • Vomiting


SOURCES: OMIM ORPHANET MENDELIAN

More info about OVARIAN CANCER

Lymphoproliferative syndrome-1 is an autosomal recessive primary immunodeficiency characterized by onset in early childhood of Epstein-Barr virus (EBV)-associated immune dysregulation, manifest as lymphoma, lymphomatoid granulomatosis, hemophagocytic lymphohistiocytosis, Hodgkin disease, and/or hypogammaglobulinemia. Autoimmune disorders, such as autoimmune hemolytic anemia or renal disease, may also occur. Patients show a high EBV viral load and decreased invariant natural killer T cells. It is unknown whether patients with ITK mutations are intrinsically susceptible to development of lymphoma or dysgammaglobulinemia in the absence of EBV infection (summary by Stepensky et al., 2011; Linka et al., 2012).For a discussion of genetic heterogeneity of lymphoproliferative syndrome, see XLP1 (OMIM ).

Related symptoms:

  • Anemia
  • Hepatomegaly
  • Fever
  • Splenomegaly
  • Immunodeficiency


SOURCES: OMIM MESH MENDELIAN

More info about LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1

Hypocomplementemic urticarial vasculitis (HUV) is an immune complex-mediated small vessel vasculitis characterized by urticaria and hypocomplementemia (low C1q with or without low C3 and C4), and usually associated with circulating anti-C1q autoantibodies. Arthritis, pulmonary disease, ocular inflammation, and glomerulonephritis are common systemic manifestations.

HYPOCOMPLEMENTEMIC URTICARIAL VASCULITIS Is also known as mac duffie syndrome|mac duffie hypocomplementemic urticarial vasculitis|anti-c1q vasculitis|mcduffie hypocomplementemic urticarial vasculitis|mcduffie syndrome

Related symptoms:

  • Seizures
  • Ataxia
  • Sensorineural hearing impairment
  • Pain
  • Peripheral neuropathy


SOURCES: ORPHANET MENDELIAN

More info about HYPOCOMPLEMENTEMIC URTICARIAL VASCULITIS

Hairy cell leukemia (HCL) is a rare type of leukemia in which abnormal B-lymphocytes are present in the bone marrow, spleen and peripheral blood. It is a slowly progressive chronic lymphocytic leukemia (CLL). The name comes from the abnormally shaped lymphocytes with hair-like projections.

CLASSIC HAIRY CELL LEUKEMIA Is also known as leukemic reticuloendotheliosis|hcl-c

Related symptoms:

  • Neoplasm
  • Fever
  • Fatigue
  • Splenomegaly
  • Weight loss


SOURCES: ORPHANET MENDELIAN

More info about CLASSIC HAIRY CELL LEUKEMIA

Top 5 symptoms//phenotypes associated to Leukemia and Ascites

Symptoms // Phenotype % cases
Splenomegaly Common - Between 50% and 80% cases
Neoplasm Common - Between 50% and 80% cases
Lymphoma Uncommon - Between 30% and 50% cases
Hepatosplenomegaly Uncommon - Between 30% and 50% cases
Cognitive impairment Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Leukemia and Ascites. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Muscular hypotonia Growth delay Generalized hypotonia Global developmental delay Seizures Lymphadenopathy Abnormality of cardiovascular system morphology Hepatomegaly Thrombocytopenia Weight loss Fatigue High forehead Atrial septal defect Telangiectasia Microcephaly Edema Low-set ears Abnormality of the upper limb Fever Microphthalmia Intellectual disability Autoimmunity Gastroesophageal reflux Hypertension Failure to thrive Pleural effusion Pain Abdominal pain Ventriculomegaly Ventricular septal defect Anemia Downslanted palpebral fissures Abnormal heart morphology Frontal bossing Intrauterine growth retardation Nausea and vomiting Epicanthus Depressed nasal bridge

Rare Symptoms - Less than 30% cases

Broad forehead Polymicrogyria Joint hypermobility Toe syndactyly Finger syndactyly Patent ductus arteriosus Joint laxity Postnatal growth retardation Pericardial effusion Bicuspid aortic valve Hodgkin lymphoma Deeply set eye Hypothyroidism Thick vermilion border Lymphoproliferative disorder Multicystic kidney dysplasia Polyhydramnios Esotropia Pulmonic stenosis Sparse hair Strabismus Chylothorax Respiratory distress Aortic valve stenosis Cafe-au-lait spot Coarctation of aorta Triangular face Vasculitis Meningitis Low-set, posteriorly rotated ears Abnormality of the skeletal system Nephroblastoma Cataract Cleft palate Abnormal facial shape Short stature Cutis marmorata telangiectatica congenita Abnormality of the lower limb Immunodeficiency Decreased antibody level in blood Pancytopenia Uveitis Hemophagocytosis Multiple cafe-au-lait spots Cortical dysplasia Cutis marmorata Arteriovenous malformation Aplasia/Hypoplasia of the skin Syndactyly Gastrointestinal hemorrhage Portal hypertension Urticaria Skin rash Immunologic hypersensitivity Nausea Shock Leukopenia Arthralgia Osteolysis Cirrhosis Myalgia Pruritus Hydrocephalus Macrocephaly Arrhythmia Diarrhea Micrognathia Hypertelorism Failure to thrive in infancy Abnormal bleeding Cholelithiasis Highly arched eyebrow Bruising susceptibility Astigmatism Falls Webbed neck Abnormality of the foot Hypermetropia Pectus carinatum Feeding difficulties in infancy Angioedema Irregular hyperpigmentation Wide intermamillary distance Inflammatory abnormality of the eye Torticollis Cyanosis Epistaxis Low posterior hairline Fine hair Macrotia Mitral regurgitation Poor suck Hyperpigmentation of the skin Deep philtrum Lymphedema Hydrops fetalis Bilateral single transverse palmar creases Hip dysplasia Myopathy Prominent forehead Aplasia cutis congenita of scalp Absent toe Abnormal pulmonary valve morphology Venous malformation Absent fingernail Absent hand Aplastic/hypoplastic toenail Obstructive lung disease Periventricular leukomalacia Episcleritis Porencephalic cyst Congenital hepatic fibrosis Esophageal varix Pulmonary artery atresia Small vessel vasculitis Hypoplastic fingernail Calvarial skull defect Double outlet right ventricle Periventricular cysts Imperforate hymen Posteriorly rotated ears Anteverted nares Inguinal hernia Pectus excavatum Long philtrum Hemoptysis Cardiomyopathy Complement deficiency Short neck Gait disturbance Acrania Optic atrophy Motor delay Delayed speech and language development Feeding difficulties Ptosis Cryptorchidism Aplasia cutis congenita on trunk or limbs Aplasia cutis congenita over posterior parietal area Bilateral ptosis Decreased muscle mass Abnormality of the thorax Carcinoma Renal insufficiency Ovarian neoplasm Back pain Breast carcinoma Melanoma Increased body weight Abdominal distention Constipation Ovarian carcinoma Dyspnea Abnormality of metabolism/homeostasis Arthritis Vomiting Central hypotonia Proteinuria T-cell lymphoma Peripheral neuropathy Dysgerminoma Cough Granulomatosis Autoimmune hemolytic anemia Pulmonary infiltrates Immune dysregulation Stomatitis Recurrent aphthous stomatitis Elevated erythrocyte sedimentation rate Histiocytosis Generalized lymphadenopathy Non-Hodgkin lymphoma Lymphopenia Hemolytic anemia Dysgammaglobulinemia Ataxia Pneumonia Sensorineural hearing impairment Recurrent infections Ovarian papillary adenocarcinoma Impaired T cell function Hematuria Glomerulopathy Hemiplegia/hemiparesis Hypochromic microcytic anemia Abnormality of the spleen B-cell lymphoma Short attention span Hydrocele testis Facial hypotonia Nephritis Emphysema Broad toe Restrictive ventilatory defect Abnormal eyebrow morphology Neurodevelopmental delay IgG deficiency Proximal placement of thumb Overfolded helix Cubitus valgus Abnormal heart valve morphology Prominent fingertip pads Monocytosis Aplastic anemia Reduced tendon reflexes Sensory neuropathy Combined immunodeficiency Recurrent bacterial infections Conjunctivitis Joint dislocation Cranial nerve paralysis Cerebral palsy Abnormality of the subarachnoid space Pulmonary lymphangiectasia Reduced factor X activity Reduced prothrombin activity Juvenile myelomonocytic leukemia Reduced factor XII activity Hypoplasia of olfactory tract Reduced factor IX activity Abnormality of the mediastinum Arteritis Pulmonary artery stenosis Abnormal lung lobation Oligodactyly Cutaneous syndactyly Large for gestational age Redundant skin Reduced bone mineral density Arnold-Chiari malformation Ischemic stroke Hemangioma Cutis laxa Purpura Telangiectasia of the skin Postaxial hand polydactyly Overgrowth Abnormality of the skin Vesicoureteral reflux Nevus Retinal detachment Postaxial polydactyly Oral cleft Abnormality of digit Syringomyelia Stroke Atrial flutter Subcutaneous hemorrhage Perisylvian polymicrogyria Asymmetric growth Right aortic arch Skin erosion Arterial stenosis Cavum septum pellucidum Dilation of lateral ventricles Hemihypertrophy Nevus flammeus Large earlobe Varicose veins Meningioma Megalencephaly Capillary hemangioma Severe failure to thrive Severe postnatal growth retardation Arnold-Chiari type I malformation Smooth philtrum Abnormality of the nervous system Capillary malformation Asthma Hypermelanotic macule Loss of consciousness Sarcoma Bone marrow hypocellularity Bone pain Abnormal blistering of the skin Hypotension Sudden cardiac death Acute leukemia Recurrent fractures Tachycardia Ichthyosis Malabsorption Papule Erythema Osteoporosis Headache Abnormality of blood and blood-forming tissues Flushing Polydactyly Mastocytosis Hernia Wide nasal bridge Scoliosis Telangiectasia macularis eruptiva perstans Chronic leukemia Anaphylactic shock Cutaneous mastocytosis Dermatographic urticaria Abnormality of the gastric mucosa Allergy Food intolerance Abnormal eosinophil morphology Impaired temperature sensation Asthenia Gastrointestinal stroma tumor Hypersplenism Myeloproliferative disorder Generalized osteosclerosis Short lower limbs Facial hemangioma Aplasia cutis congenita Premature chromatid separation Alopecia Dilatation Hypertonia Hypoplasia of the corpus callosum Talipes equinovarus Brachydactyly Vaginal neoplasm Epidermoid cyst Osteopenia Increased nuchal translucency Abnormal aortic morphology Stomach cancer Rhabdomyosarcoma Subvalvular aortic stenosis Intestinal polyposis Duodenal atresia Abnormality of the skull Cerebellar hypoplasia EEG abnormality Abnormality of immune system physiology Small nail Cutaneous finger syndactyly Hypoplastic left heart Supernumerary nipple Abnormality of the metacarpal bones Pachygyria Encephalocele Split hand Hemiparesis Pulmonary arterial hypertension Abnormality of the kidney Tetralogy of Fallot Nail dysplasia Premature birth Short distal phalanx of finger Cleft upper lip Talipes Prominent nasal bridge Abnormal cardiac septum morphology Acute lymphoblastic leukemia Atrioventricular canal defect Hemimegalencephaly Delayed skeletal maturation Small for gestational age Corneal opacity Blepharophimosis Craniosynostosis Abnormality of the eye Apnea Glaucoma Clinodactyly of the 5th finger Clinodactyly Dolichocephaly Short nose Intellectual disability, mild Hearing impairment Blue nevus Vascular ring Displacement of the external urethral meatus Progressive macrocephaly Leukocoria Muscular dystrophy Abnormality of skin pigmentation Colon cancer Finger clinodactyly Aplasia/Hypoplasia of the cerebellum Myelodysplasia Abnormality of vision Sleep apnea Aplasia/Hypoplasia of the corpus callosum Aortic regurgitation Holoprosencephaly Microretrognathia Rhizomelia Long face Depressed nasal ridge Short palpebral fissure Ambiguous genitalia Sloping forehead Dandy-Walker malformation Growth hormone deficiency Wide nose Bulbous nose Night sweats


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