Lymphoma, and Cyanosis

Diseases related with Lymphoma and Cyanosis

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

Pitt-Hopkins syndrome (PHS) is characterized by the association of intellectual deficit, characteristic facial dysmorphism and problems of abnormal and irregular breathing.

PITT-HOPKINS SYNDROME Is also known as encephalopathy, severe epileptic, with autonomic dysfunction|mental retardation, syndromal, with intermittent hyperventilation

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about PITT-HOPKINS 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

Other less relevant matches:

G6PD deficiency is the most common genetic cause of chronic and drug-, food-, or infection-induced hemolytic anemia. G6PD catalyzes the first reaction in the pentose phosphate pathway, which is the only NADPH-generation process in mature red cells; therefore, defense against oxidative damage is dependent on G6PD. Most G6PD-deficient patients are asymptomatic throughout their life, but G6PD deficiency can be life-threatening. The most common clinical manifestations of G6PD deficiency are neonatal jaundice and acute hemolytic anemia, which in most patients is triggered by an exogenous agent, e.g., primaquine or fava beans. Acute hemolysis is characterized by fatigue, back pain, anemia, and jaundice. Increased unconjugated bilirubin, lactate dehydrogenase, and reticulocytosis are markers of the disorder. The striking similarity between the areas where G6PD deficiency is common and Plasmodium falciparum malaria (see {611162}) is endemic provided evidence that G6PD deficiency confers resistance against malaria (summary by Cappellini and Fiorelli, 2008).

ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY Is also known as favism, susceptibility to

Related symptoms:

  • Intellectual disability
  • Neoplasm
  • Muscle weakness
  • Pain
  • Anemia


SOURCES: OMIM MENDELIAN

More info about ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY

Li-Fraumeni syndrome (LFS) is a rare cancer predisposition syndrome characterized by the early-onset of multiple primary cancers such as breast cancer, soft tissue and bone sarcomas (see these terms), brain tumors and adrenal cortical carcinoma (ACC) (see this term).

LI-FRAUMENI SYNDROME Is also known as sarcoma family syndrome of li and fraumeni|sbla syndrome

Related symptoms:

  • Neoplasm
  • Carcinoma
  • Leukemia
  • Lymphoma
  • Neoplasm of the skin


SOURCES: OMIM ORPHANET MENDELIAN

More info about LI-FRAUMENI 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

Chédiak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS; see this term) have been described.

CHÉDIAK-HIGASHI SYNDROME Is also known as chÉdiak-higashi-steinbrink syndrome|chÉdiak-higashi disease

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CHÉDIAK-HIGASHI SYNDROME

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

Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD; see this term). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2.

GAUCHER DISEASE TYPE 2 Is also known as infantile cerebral gaucher disease|acute neuronopathic gaucher disease

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET MENDELIAN

More info about GAUCHER DISEASE TYPE 2

Top 5 symptoms//phenotypes associated to Lymphoma and Cyanosis

Symptoms // Phenotype % cases
Hepatosplenomegaly Common - Between 50% and 80% cases
Splenomegaly Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Hepatomegaly Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Lymphoma and Cyanosis. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Ataxia

Uncommon Symptoms - Between 30% and 50% cases

Strabismus

Common Symptoms - More than 50% cases

Failure to thrive

Uncommon Symptoms - Between 30% and 50% cases

Thrombocytopenia

Common Symptoms - More than 50% cases

Anemia

Uncommon Symptoms - Between 30% and 50% cases

Leukopenia Lymphadenopathy Pancytopenia Epistaxis Abnormal bleeding Fatigue Generalized hypotonia Leukemia Abnormality of the thorax Intellectual disability Recurrent respiratory infections Motor delay Ascites Scoliosis Edema Clubbing Growth delay Jaundice Abnormality of the spleen Cholelithiasis Dyspnea Neoplasm Bruising susceptibility Cirrhosis Encephalopathy Fever Congestive heart failure Hydrops fetalis Abnormality of eye movement Myoclonus Corneal opacity Arrhythmia Delayed skeletal maturation Osteopenia Dementia Abdominal pain Kyphosis Gait disturbance Abdominal distention Cardiac valve calcification Multiple myeloma Supranuclear gaze palsy Spontaneous hematomas Hepatocellular carcinoma Short stature Orthopnea Erlenmeyer flask deformity of the femurs Hodgkin lymphoma Exertional dyspnea Decreased beta-glucocerebrosidase protein and activity Hematological neoplasm Interstitial pulmonary abnormality Generalized myoclonic seizures Petechiae Increased serum ferritin Menorrhagia Portal hypertension Oculomotor apraxia Osteolysis Bone pain Decreased body weight Progressive neurologic deterioration Pulmonary arterial hypertension Syncope Diarrhea Generalized osteosclerosis Gastroesophageal reflux Hyperbilirubinemia Acute leukemia Rigidity Microcephaly Abnormal facial shape Muscular hypotonia Leukocytosis Hemophagocytosis Myopia Hypertonia Meningitis Increased antibody level in blood Avascular necrosis of the capital femoral epiphysis Pallor Respiratory distress

Rare Symptoms - Less than 30% cases

Elevated hepatic transaminase Irritability Atrial septal defect CSF pleocytosis Abnormality of coagulation Hypofibrinogenemia Abnormal myocardium morphology Pericardial effusion Hepatic failure Hypertriglyceridemia Peripheral demyelination Histiocytosis Aspiration Purpura Vertebral compression fractures Increased susceptibility to fractures Cognitive impairment Aseptic necrosis Albinism Hypoalbuminemia Hyponatremia Protuberant abdomen Partial albinism Nystagmus Recurrent infections Neurodegeneration Bilateral ptosis Gingival bleeding Poor suck Depressivity Hemolytic anemia Abnormality of the cardiovascular system Osteomyelitis Osteoporosis Hyperpigmentation of the skin Brain atrophy Parkinsonism Proteinuria Delayed puberty Immunodeficiency Developmental regression Abnormality of the eye Falls Hematuria Mental deterioration Hypertension Difficulty walking Feeding difficulties in infancy Tremor Anorexia Spasticity Polyhydramnios Increased bone mineral density Hypersplenism Pain Thick vermilion border Dystonia Bulbar palsy Slow saccadic eye movements Acrocyanosis Wide intermamillary distance Feeding difficulties Hypertelorism Opisthotonus Depressed nasal bridge Restrictive deficit on pulmonary function testing Hypopigmentation of the skin Abnormal platelet aggregation Abnormality of bone marrow cell morphology Ophthalmoplegia Cryptorchidism Vomiting Aggressive behavior Abnormal pattern of respiration Neurological speech impairment Postnatal growth retardation Abnormality of the skeletal system Astigmatism Short neck Anteverted nares Paresthesia Apnea Horizontal supranuclear gaze palsy Dysphagia Athetosis Hypokinesia Reduced visual acuity Photophobia Poor eye contact Spastic paraplegia Congenital ichthyosiform erythroderma Neutropenia Abnormality of movement Skin ulcer Knee flexion contracture Hyperammonemia Intracranial hemorrhage Ectropion Abnormality of vision Akinesia Cranial nerve paralysis Foot dorsiflexor weakness Amblyopia Paraplegia Cutaneous photosensitivity Abnormality of extrapyramidal motor function Bradykinesia Gastrointestinal hemorrhage Heart murmur Areflexia Sensory neuropathy Peripheral axonal neuropathy Hyporeflexia Periorbital edema Cerebellar atrophy Intestinal bleeding Abnormality of the larynx Hypoxemia Eclabion Axial dystonia Abducens palsy Subcutaneous hemorrhage Increased LDL cholesterol concentration Giant cell hepatitis Increased total bilirubin Laryngeal stridor Slowed horizontal saccades Cellular immunodeficiency Prolonged prothrombin time Decreased HDL cholesterol concentration Generalized edema Prolonged partial thromboplastin time Congenital nonbullous ichthyosiform erythroderma Granulocytopenia Atrophy/Degeneration affecting the brainstem Epileptic spasms Skeletal muscle atrophy Peripheral neuropathy Visual impairment Limb hypertonia Abnormal natural killer cell physiology Hypocalcemia Lipogranulomatosis Aspiration pneumonia T-cell lymphoma Fetal akinesia sequence Plasmacytosis Hypomagnesemia Polyneuritis Bulbar signs Trismus Nonimmune hydrops fetalis Increased VLDL cholesterol concentration Decreased nerve conduction velocity Thickened skin Elbow flexion contracture Apraxia Abnormal retinal morphology Hepatic fibrosis Lower limb hyperreflexia Abnormality of the sternum Osteoarthritis Abnormal heart valve morphology Thoracic kyphosis Hypercoagulability Spastic paraparesis Abnormality of skin pigmentation Protein-losing enteropathy Astrocytosis Abnormal thrombosis Aortic valve calcification Abnormal saccadic eye movements Arthritis Restrictive ventilatory defect Pulmonary fibrosis Mitral valve calcification Biliary tract obstruction Fractures of the long bones Edema of the lower limbs Bipolar affective disorder Flank pain Arthralgia of the hip Abnormal platelet function Vascular calcification Puberty and gonadal disorders Lymphopenia Pathologic fracture Hydrocephalus Abnormal pyramidal sign Generalized tonic-clonic seizures Malabsorption Progressive cerebellar ataxia Reduced bone mineral density Intention tremor EEG abnormality Abnormality of ion homeostasis Cardiac arrest Iris hypopigmentation Progressive peripheral neuropathy Spinocerebellar tract degeneration White hair Generalized hypopigmentation Fair hair Periodontitis Gingivitis Esodeviation Decreased fetal movement Hypopigmentation of hair Generalized hyperpigmentation Resting tremor Sensory axonal neuropathy Cerebral hemorrhage Progressive microcephaly Melanocytic nevus Cholestasis Macular hypoplasia Abnormality of the acoustic reflex Nausea Sleep myoclonus Flexion contracture Intrauterine growth retardation Umbilical hernia Hypoglycemia Cough Lethargy Pulmonary hypoplasia Recurrent bacterial skin infections Abnormality of the skin Generalized hypopigmentation of hair Recurrent systemic pyogenic infections Abnormality of multiple cell lineages in the bone marrow Giant melanosomes in melanocytes Recurrent cutaneous abscess formation Abnormal leukocyte morphology Oculogyric crisis Hypoproteinemia Brain neoplasm Increased CSF protein Aplasia/Hypoplasia of the corpus callosum Aphasia Supernumerary nipple Overlapping toe Cupped ear Self-injurious behavior Short metatarsal Incoordination Coarse hair Hypopigmented skin patches Mutism Sleep apnea Widely spaced teeth Hyperventilation Abnormal palate morphology Intellectual disability, progressive Finger clinodactyly Abnormal autonomic nervous system physiology Truncal ataxia Postnatal microcephaly Aganglionic megacolon Open mouth Thick lower lip vermilion Narrow forehead Specific learning disability Dysphasia Hiatus hernia Prominent nose Intermittent hyperventilation Frontal bossing Downslanted palpebral fissures Optic atrophy Macrocephaly Epicanthus Delayed speech and language development Low-set ears Ptosis Overhanging nasal tip Triangular nasal tip Broad fingertip Narrow foot Esophagitis Failure of eruption of permanent teeth Small cerebral cortex Square face Large beaked nose Happy demeanor Pes valgus Thickened helices Breathing dysregulation Abnormality of the helix Clubbing of fingers Echolalia Misalignment of teeth Convex nasal ridge Full cheeks Myopathy Arterial thrombosis Wide nasal bridge Hearing impairment Increased megakaryocyte count Decreased mean platelet volume Abnormal platelet morphology Bloody diarrhea Myelofibrosis Amaurosis fugax Myeloproliferative disorder Impaired platelet aggregation Abnormal thrombocyte morphology Abnormality of the cerebral vasculature Hypoplasia of the corpus callosum Gangrene Transient ischemic attack Thrombocytosis Pulmonary embolism Myeloid leukemia Prolonged bleeding time Myelodysplasia Venous thrombosis Myocardial infarction Chest pain Vertigo Headache Talipes equinovarus Intellectual disability, severe Sleep disturbance Intellectual disability, moderate Single transverse palmar crease Tapered finger Small hand Thick eyebrow Severe global developmental delay Prominent nasal bridge Short philtrum Wide mouth Autistic behavior Protruding ear Abnormality of the pinna Anxiety Absent speech Deeply set eye Pes planus Coarse facial features Mandibular prognathia Autism Gait ataxia Micropenis Upslanted palpebral fissure Pes cavus Pneumonia Constipation Clinodactyly Cardiomyopathy Long philtrum Pulmonary infiltrates Neoplasm of the skin Medulloblastoma Osteosarcoma Neoplasm of the pancreas Progressive encephalopathy Neoplasm of the lung Acute lymphoblastic leukemia Colon cancer Nephroblastoma Sarcoma Breast carcinoma Melanoma Carcinoma Rhabdomyosarcoma Fava bean-induced hemolytic anemia Kernicterus Unconjugated hyperbilirubinemia Nonspherocytic hemolytic anemia Hemoglobinuria Poikilocytosis Anisocytosis Reticulocytosis Prolonged neonatal jaundice Back pain Myalgia Muscle weakness Prostate cancer Stomach cancer Reduced factor X activity Coma Severe combined immunodeficiency Episodic fever Combined immunodeficiency Abnormality of the coagulation cascade Hemiplegia Encephalitis Eosinophilia Increased intracranial pressure Gliosis Sepsis Tetraplegia Confusion Soft tissue sarcoma Skin rash Abnormality of the liver Abnormality of the nervous system Prostate neoplasm Neoplasm of the adrenal cortex Neoplasm of the colon Impaired lymphocyte transformation with phytohemagglutinin Plethora Monoclonal immunoglobulin M proteinemia Neoplasm of the nervous system Lung adenocarcinoma Adrenocortical carcinoma Abnormality of the subarachnoid space Reduced prothrombin activity Abnormality of cardiovascular system morphology Abnormality of the foot Lymphedema Cafe-au-lait spot Mitral regurgitation Fine hair Low posterior hairline Hip dysplasia Esotropia Webbed neck Triangular face Highly arched eyebrow Joint hypermobility Pulmonic stenosis Bilateral single transverse palmar creases Hypermetropia Broad forehead Pectus carinatum Sparse hair Low-set, posteriorly rotated ears Joint laxity Macrotia High forehead Prominent forehead Posteriorly rotated ears Inguinal hernia Pectus excavatum Aortic valve stenosis Vasculitis Juvenile myelomonocytic leukemia B-cell lymphoma Reduced factor XII activity Hypoplasia of olfactory tract Reduced factor IX activity Abnormality of the mediastinum Arteritis Pulmonary lymphangiectasia Monocytosis Broad toe Prominent fingertip pads Chylothorax Hypochromic microcytic anemia Short attention span Torticollis Hydrocele testis Facial hypotonia Abnormal eyebrow morphology Neurodevelopmental delay Decreased muscle mass Proximal placement of thumb Overfolded helix Cubitus valgus Pleural effusion Failure to thrive in infancy Deep philtrum Bicuspid aortic valve EEG with temporal sharp waves


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