Leukemia, and Hematuria

Diseases related with Leukemia and Hematuria

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

Top matches:

Hereditary leiomyomatosis and renal cell cancer is an autosomal dominant tumor predisposition syndrome characterized by the variable development of 3 tumors: cutaneous piloleiomyomata that develop in essentially all patients by age 40 years; leiomyomata (fibroids) of the uterus, and rarely leiomyosarcomas, at a mean age of 30 years (range, 18 to 52 years); and type 2 papillary renal cell carcinoma at a mean age of 46 years (range, 17 to 75 years), which occurs in about 20% of patients. Type 2 papillary renal cell carcinoma is a pathologic subtype characterized by large tumor cells with eosinophilic cytoplasm and pseudostratified nuclei; it shows an aggressive clinical course. Some patients with FH mutations may develop collecting duct renal cell carcinoma. The main focus of management in HLRCC is prevention of disease and death due to renal cancer (summary by Gardie et al., 2011; Smit et al., 2011; and Lehtonen, 2011).For a general discussion of papillary renal cell carcinoma, see RCCP1 (OMIM ).

HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER; HLRCC Is also known as mcl|multiple cutaneous and uterine leiomyomata 1, with or without renal cell carcinoma|mcul1|lrcc|leiomyoma, multiple cutaneous|leiomyomatosis and renal cell cancer, hereditary

Related symptoms:

  • Neoplasm
  • Pain
  • Cataract
  • Carcinoma
  • Skin rash


SOURCES: MESH OMIM MENDELIAN

More info about HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER; HLRCC

The gray platelet syndrome (GPS) is a rare inherited disorder characterized by mild to moderate bleeding tendency, moderate thrombocytopenia, and a marked decrease or absence of platelet alpha-granules and of the proteins contained in alpha-granules. The platelets are enlarged, but not giant, and have a gray appearance on light microscopy of Wright-stained peripheral blood smears due to decreased granules. Many patients with gray platelet syndrome develop a stable myelofibrosis (summary by Nurden and Nurden, 2007).Cases suggesting autosomal dominant and autosomal recessive inheritance have been described, indicating that GPS is probably a genetically heterogeneous disorder with more than one molecular cause.

GRAY PLATELET SYNDROME; GPS Is also known as bleeding disorder, platelet-type, 4|bdplt4|platelet alpha-granule deficiency

Related symptoms:

  • Anemia
  • Splenomegaly
  • Thrombocytopenia
  • Skin rash
  • Bruising susceptibility


SOURCES: OMIM MESH MENDELIAN

More info about GRAY PLATELET SYNDROME; GPS

Medium match HEMOPHILIA B; HEMB

Hemophilia B due to factor IX deficiency is phenotypically indistinguishable from hemophilia A (OMIM ), which results from deficiency of coagulation factor VIII (F8 ). The classic laboratory findings in hemophilia B include a prolonged activated partial thromboplastin time (aPTT) and a normal prothrombin time (PT) (Lefkowitz et al., 1993).Early studies made a distinction between cross-reactive-material (CRM)-negative and CRM-positive hemophilia B mutants. This classification referred to detection of the F9 antigen in plasma, even in the presence of decreased F9 activity. Detection of the antigen indicated the presence of a dysfunctional F9 protein. Roberts et al. (1968) found that about 90% of patients with hemophilia B were CRM-negative, whereas about 10% were CRM-positive. However, Bertina and Veltkamp (1978) found that a rather large proportion of the hemophilia B patients could be characterized as hemophilia B CRM+. They identified 14 cases of hemophilia B CRM+ from 11 families among a group of 33 patients. After immunologic and activity comparisons, they found at least 7 different factor IX variants. Bertina and Veltkamp (1978) noted the high heterogeneity within this group. In an editorial on variants of vitamin K-dependent coagulation factors, Bertina et al. (1979) stated that 9 defective variants of factor II, 5 variants of factor X, and many variants (about 180 pedigrees) of factor IX had been identified. At least one variant of factor VII (Padua) was also known.

HEMOPHILIA B; HEMB Is also known as christmas disease|factor ix deficiency|f9 deficiency|plasma thromboplastin component deficiency

Related symptoms:

  • Immunodeficiency
  • Leukemia
  • Hematuria
  • Abnormal bleeding
  • Gastrointestinal hemorrhage


SOURCES: OMIM ORPHANET MENDELIAN

More info about HEMOPHILIA B; HEMB

Other less relevant 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

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

ATYPICAL HEMOLYTIC-UREMIC SYNDROME WITH MCP/CD46 ANOMALY Is also known as ahus with mcp/cd46 anomaly|hemolytic-uremic syndrome without diarrhea with mcp/cd46 anomaly|ahus, susceptibility to, 2|atypical hus with mcp/cd46 anomaly|d-hus with mcp/cd46 anomaly

Related symptoms:

  • Hypertension
  • Renal insufficiency
  • Thrombocytopenia
  • Proteinuria
  • Stage 5 chronic kidney disease


SOURCES: OMIM ORPHANET MENDELIAN

More info about ATYPICAL HEMOLYTIC-UREMIC SYNDROME WITH MCP/CD46 ANOMALY

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

Gaucher disease is an autosomal recessive lysosomal storage disorder due to deficient activity of beta-glucocerebrosidase. As a result of this deficiency, there is intracellular accumulation of glucosylceramide (GlcCer, glucosylcerebroside) primarily within cells of mononuclear phagocyte origin, which are the characteristic 'Gaucher cells' identified in most tissues (Jmoudiak and Futerman, 2005).Gaucher disease is classically categorized phenotypically into 3 main subtypes: nonneuronopathic type I, acute neuronopathic type II (OMIM ), and subacute neuronopathic type III (OMIM ). Type I is the most common form of Gaucher disease and lacks primary central nervous system involvement. Types II and III have central nervous system involvement and neurologic manifestations (Knudson and Kaplan, 1962; Jmoudiak and Futerman, 2005).All 3 forms of Gaucher disease are caused by mutation in the GBA gene. There are 2 additional phenotypes which may be distinguished: perinatal lethal Gaucher disease (OMIM ), which is a severe form of type II, and Gaucher disease type IIIC (OMIM ), which also has cardiovascular calcifications.See also {610539} for a form of atypical Gaucher disease caused by mutation in the gene encoding saposin C (PSAP ), which is an activator of beta-glucosidase.

GAUCHER DISEASE, TYPE I Is also known as gd i|glucocerebrosidase deficiency|acid beta-glucosidase deficiency|gba deficiency|gaucher disease, noncerebral juvenile

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Failure to thrive
  • Strabismus


SOURCES: OMIM MENDELIAN

More info about GAUCHER DISEASE, TYPE I

Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD; see this term) characterized by organomegaly, bone involvement and cytopenia.

GAUCHER DISEASE TYPE 1 Is also known as gaucher disease, juvenile and adult, cerebral|gd iii|gaucher disease, chronic neuronopathic type|non-cerebral juvenile gaucher disease|gaucher disease, subacute neuronopathic type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about GAUCHER DISEASE TYPE 1

Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD; see this term) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1 (see this term).

GAUCHER DISEASE TYPE 3 Is also known as chronic neuronopathic gaucher disease|cerebral juvenile and adult form of gaucher disease|gaucher disease, subacute neuronopathic type

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Scoliosis


SOURCES: ORPHANET MENDELIAN

More info about GAUCHER DISEASE TYPE 3

Top 5 symptoms//phenotypes associated to Leukemia and Hematuria

Symptoms // Phenotype % cases
Splenomegaly Common - Between 50% and 80% cases
Thrombocytopenia Common - Between 50% and 80% cases
Anemia Common - Between 50% and 80% cases
Hepatomegaly Common - Between 50% and 80% cases
Proteinuria Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Epistaxis Fatigue Abnormal bleeding Pericardial effusion Dyspnea Ataxia Seizures Recurrent respiratory infections Pain Bruising susceptibility Pancytopenia Abdominal pain Aseptic necrosis Lymphadenopathy Osteoporosis Bone pain Vertebral compression fractures Interstitial pulmonary abnormality Delayed skeletal maturation Generalized myoclonic seizures Increased antibody level in blood Dementia Pulmonary arterial hypertension Hepatosplenomegaly Delayed puberty Increased susceptibility to fractures Increased bone mineral density Portal hypertension Edema Strabismus Failure to thrive Ascites Abnormal myocardium morphology Diarrhea Abnormality of the spleen Neurological speech impairment Cirrhosis Cholelithiasis Leukopenia Leukocytosis Renal insufficiency Multiple myeloma Osteolysis Hypertension Skin rash Petechiae Prolonged bleeding time Menorrhagia Erlenmeyer flask deformity of the femurs

Rare Symptoms - Less than 30% cases

Pneumonia Generalized osteosclerosis Progressive neurologic deterioration Decreased body weight Oculomotor apraxia Abnormality of the thorax Clubbing Elevated serum creatinine Exertional dyspnea Hepatocellular carcinoma Osteomyelitis Supranuclear gaze palsy Avascular necrosis of the capital femoral epiphysis Cerebral palsy Cardiac valve calcification Recurrent bacterial infections Spontaneous hematomas Syncope Hepatic failure Orthopnea Cough Respiratory distress Horizontal supranuclear gaze palsy Rigidity Decreased beta-glucocerebrosidase protein and activity Hematological neoplasm Cyanosis Hypersplenism Abdominal distention Congestive heart failure Mitral valve calcification Pathologic fracture Global developmental delay Short stature Intellectual disability Scoliosis Hydrops fetalis Growth delay Ophthalmoplegia Mental deterioration Abnormality of the eye Myopia Encephalopathy Abnormality of eye movement Dysphagia Gait disturbance Spasticity Kyphosis Depressivity Abnormal heart valve morphology Arrhythmia Restrictive ventilatory defect Meningitis Myoclonus Osteopenia Corneal opacity Aortic valve calcification Arthritis Neoplasm Intracranial hemorrhage Bone marrow hypocellularity Gastrointestinal hemorrhage Pruritus Hemolytic anemia Myeloproliferative disorder Pallor Fever Nausea and vomiting Sensorineural hearing impairment Hypercoagulability Myeloid leukemia Respiratory failure Immunodeficiency Recurrent infections Osteoarthritis Hepatic fibrosis Leiomyosarcoma Cutaneous leiomyosarcoma Decreased fumarate hydratase activity Papillary renal cell carcinoma type 2 Multiple cutaneous leiomyomas Cutaneous leiomyoma EEG abnormality Vaginal neoplasm Uterine leiomyosarcoma Anorexia Abnormality of skin pigmentation Barrett esophagus Parkinsonism Spastic paraparesis Papillary renal cell carcinoma Abnormality of the cardiovascular system Apraxia Gastrointestinal stroma tumor Bladder neoplasm Uterine leiomyoma Cognitive impairment Purpura Aspiration pneumonia Aspiration Hepatitis Shock Hyperkinesis Reduced quantity of Von Willebrand factor Stridor Oral-pharyngeal dysphagia Impaired thrombin-induced platelet aggregation Reduced von Willebrand factor activity Absence of alpha granules Macular atrophy Pulmonary infiltrates Platelet antibody positive Motor delay Chronic fatigue Impaired collagen-induced platelet aggregation Decreased platelet glycoprotein IIb-IIIa Internal hemorrhage Vertical supranuclear gaze palsy Myelofibrosis Extramedullary hematopoiesis Abnormal thrombocyte morphology Ecchymosis Deep venous thrombosis Autoimmune thrombocytopenia Low back pain Reduced bone mineral density Verrucae Renal neoplasm Opisthotonus Difficulty walking Aggressive behavior Abnormal pyramidal sign Generalized tonic-clonic seizures Malabsorption Neurodegeneration Progressive cerebellar ataxia Intention tremor Lymphopenia Hypoalbuminemia Pulmonary fibrosis Abnormal retinal morphology Hypertonia Lower limb hyperreflexia Abnormality of the sternum Bulbar palsy Thoracic kyphosis Slow saccadic eye movements Restrictive deficit on pulmonary function testing Protein-losing enteropathy Astrocytosis Abnormal thrombosis Abnormal saccadic eye movements Abnormality of ion homeostasis Abnormality of the acoustic reflex Dystonia Vomiting Abnormality of coagulation Breast carcinoma Renal cell carcinoma Gingival bleeding Abnormality of the musculature Bipolar affective disorder Increased serum ferritin Edema of the lower limbs Basal cell carcinoma Nephroblastoma Back pain Periorbital edema Esodeviation Fractures of the long bones Abnormality of bone marrow cell morphology Hydrocephalus Flank pain Arthralgia of the hip Abnormal platelet function Neoplasm of the skin Vascular calcification Biliary tract obstruction Puberty and gonadal disorders Papule Carcinoma Cataract Nystagmus Tremor Protuberant abdomen Joint hemorrhage Hyperpigmentation of the skin Night sweats Iron deficiency anemia Poor appetite Reticulocytosis Thrombocytosis Abnormality of the vasculature Scarring Asplenia Atelectasis Increased mean corpuscular volume Hypoxemia Left ventricular failure Abnormal hemoglobin Microcytic anemia Microalbuminuria Chronic myelogenous leukemia Hypochromic anemia Chronic hemolytic anemia Unconjugated hyperbilirubinemia Pure red cell aplasia Persistence of hemoglobin F Abnormal lactate dehydrogenase activity Increased lactate dehydrogenase activity Priapism Pigment gallstones Increased red cell sickling tendency Wheezing Vertigo Stage 5 chronic kidney disease Irritability Granulocytopenia Erysipelas Macronodular cirrhosis Abnormal neutrophil count Acute leukemia Acute myeloid leukemia Cellulitis Chronic otitis media Myelodysplasia Jaundice Abnormality of the nervous system Retinopathy Tachypnea Stroke Lymphedema Confusion Hypotelorism Nephropathy Sepsis Chest pain Cardiomegaly Cholestasis Webbed neck Migraine Tapered finger Weight loss Acute kidney injury Abnormal lung morphology Prolonged whole-blood clotting time Uveitis Inflammatory abnormality of the eye Angioedema Complement deficiency Immunologic hypersensitivity Episcleritis Obstructive lung disease Small vessel vasculitis Generalized hypotonia Delayed onset bleeding Prolonged bleeding after dental extraction Feeding difficulties Hemoptysis Reduced factor IX activity Prolonged bleeding after surgery Abnormality of the skeletal system Intramuscular hematoma Persistent bleeding after trauma Menometrorrhagia Spontaneous, recurrent epistaxis Poor wound healing Abnormality of the optic nerve Prolonged prothrombin time Prolonged partial thromboplastin time Abnormality of the coagulation cascade Irregular hyperpigmentation Glomerulopathy Hemolytic-uremic syndrome Sensory neuropathy Increased blood urea nitrogen Anuria Microangiopathic hemolytic anemia Monoclonal immunoglobulin M proteinemia Visual loss Peripheral neuropathy Syndactyly Cerebellar atrophy Arthralgia Myalgia Respiratory insufficiency Autoimmunity Lymphoma Cephalohematoma Epicanthus Vasculitis Conjunctivitis Joint dislocation Cranial nerve paralysis Reduced tendon reflexes Urticaria Pleural effusion Nephritis Hemiplegia/hemiparesis Emphysema Hearing impairment Sleep myoclonus


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