Ataxia, and Lymphadenopathy

Diseases related with Ataxia and Lymphadenopathy

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


Top matches:

Low match LYMPHOMA, HODGKIN, CLASSIC; CHL


Classic Hodgkin lymphoma is a lymph node cancer of germinal center B-cell origin. Hodgkin lymphoma tumors consist of a minority of malignant cells, known as 'Reed-Sternberg' (RS) cells, mixed with reactive lymphocytes and other benign inflammatory cells. A defining feature of RS cells is the presence of 2 nuclei (summary by Salipante et al., 2009).

LYMPHOMA, HODGKIN, CLASSIC; CHL Is also known as hodgkin disease

Related symptoms:

  • Ataxia
  • Neoplasm
  • Peripheral neuropathy
  • Hepatomegaly
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about LYMPHOMA, HODGKIN, CLASSIC; CHL

Low match HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2; FHL2


Familial hemophagocytic lymphohistiocytosis-2 (FHL2) is an autosomal recessive disorder of immune dysregulation with onset in infancy or early childhood. It is characterized clinically by fever, edema, hepatosplenomegaly, and liver dysfunction. Neurologic impairment, seizures, and ataxia are frequent. Laboratory studies show pancytopenia, coagulation abnormalities, hypofibrinogenemia, and hypertriglyceridemia. There is increased production of cytokines, such as gamma-interferon (IFNG ) and TNF-alpha (OMIM ), by hyperactivation and proliferation of T cells and macrophages. Activity of cytotoxic T cells and NK cells is reduced, consistent with a defect in cellular cytotoxicity. Bone marrow, lymph nodes, spleen, and liver show features of hemophagocytosis. Chemotherapy and/or immunosuppressant therapy may result in symptomatic remission, but the disorder is fatal without bone marrow transplantation (summary by Dufourcq-Lagelouse et al., 1999, Stepp et al., 1999, and Molleran Lee et al., 2004).For a general phenotypic description and a discussion of genetic heterogeneity of FHL, see {267700}.

HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2; FHL2 Is also known as hplh2|hlh2

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2; FHL2

Low match SEA-BLUE HISTIOCYTOSIS


A congenital disease caused by an inborn error involving APOLIPOPROTEINS E leading to abnormal LIPID METABOLISM and the accumulation of GLYCOSPHINGOLIPIDS, particularly SPHINGOMYELINS in the HISTIOCYTES. This disorder is characterized by SPLENOMEGALY and the sea-blue histiocytes in the spleen and bone marrow after May Grunwald staining.

SEA-BLUE HISTIOCYTOSIS Is also known as sea-blue histiocytosis|histiocytosis, sea-blue

Related symptoms:

  • Seizures
  • Ataxia
  • Peripheral neuropathy
  • Hepatomegaly
  • Gait disturbance


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SEA-BLUE HISTIOCYTOSIS

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Low match LEGIONNAIRE DISEASE, SUSCEPTIBILITY TO


Legionnaire disease (LD) is a type of pneumonia caused by Legionella pneumophila, a flagellated gram-negative bacterium found primarily in warm water environments. The disease and the bacterium were discovered following an outbreak traced to a 1976 American Legion convention in Philadelphia. A number of risk factors for acquiring LD have been identified, including age, smoking, chronic lung disease, cancer, and immunosuppression (summary by Hawn et al., 2003).

Related symptoms:

  • Ataxia
  • Neoplasm
  • Muscle weakness
  • Pain
  • Peripheral neuropathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about LEGIONNAIRE DISEASE, SUSCEPTIBILITY TO

Low match HYPOCOMPLEMENTEMIC URTICARIAL VASCULITIS


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

Low match RIDDLE SYNDROME


A rare, genetic, primary immunodeficiency disorder characterized by increased radiosensitivity(R), mild immunodeficiency (ID), dysmorphic features (D), and learning difficulties (LE).

RIDDLE SYNDROME Is also known as rnf168 deficiency|radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome|radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Ataxia
  • Neoplasm


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about RIDDLE SYNDROME

Low match VASCULITIS DUE TO ADA2 DEFICIENCY


Vasculitis due to ADA2 deficiency is a rare, genetic, systemic and rheumatologic disease due to adenosine deaminase-2 inactivating mutations, combining variable features of autoinflammation, vasculitis, and a mild immunodeficiency. Variable clinical presentation includes chronic or recurrent systemic inflammation with fever, livedo reticularis or racemosa, early-onset ischemic or hemorrhagic strokes, peripheral neuropathy, abdominal pain, hepatosplenomegaly, portal hypertension, cutaneous polyarteritis nodosa, variable cytopenia and immunoglobulin deficiency.

VASCULITIS DUE TO ADA2 DEFICIENCY Is also known as ada2 deficiency|vasculitis due to dada2

Related symptoms:

  • Ataxia
  • Pain
  • Anemia
  • Hypertension
  • Peripheral neuropathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about VASCULITIS DUE TO ADA2 DEFICIENCY

Low match HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 1; FHL1


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

Low match GRISCELLI SYNDROME, TYPE 2; GS2


GRISCELLI SYNDROME, TYPE 2; GS2 Is also known as partial albinism and immunodeficiency syndrome|griscelli syndrome with hemophagocytic syndrome|paid syndrome

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about GRISCELLI SYNDROME, TYPE 2; GS2

Low match WALDENSTRÖM MACROGLOBULINEMIA


Waldenström macroglobulinemia (WM) is an indolent B-cell lymphoproliferative disorder characterized by the accumulation of monoclonal cells in the bone marrow and peripheral lymphoid tissues, and associated with the production of serum immunoglobulin M (IgM) monoclonal protein.

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Neoplasm
  • Anemia
  • Peripheral neuropathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about WALDENSTRÖM MACROGLOBULINEMIA

Top 5 symptoms//phenotypes associated to Ataxia and Lymphadenopathy

Symptoms // Phenotype % cases
Splenomegaly Very Common - Between 80% and 100% cases
Hepatomegaly Common - Between 50% and 80% cases
Fever Common - Between 50% and 80% cases
Peripheral neuropathy Common - Between 50% and 80% cases
Pulmonary infiltrates Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Ataxia and Lymphadenopathy. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Headache Neoplasm Seizures Hepatosplenomegaly Jaundice Immunodeficiency Global developmental delay Leukopenia Anemia Leukemia Abdominal pain Pancytopenia Diarrhea Lymphoma Purpura Skin rash Thrombocytopenia Cranial nerve paralysis Meningitis Encephalitis Vasculitis Cough Hemiplegia Hyponatremia Elevated hepatic transaminase Restrictive ventilatory defect Generalized edema Hemophagocytosis Sepsis Nausea and vomiting Myalgia Renal insufficiency Pain Arthritis Hypertriglyceridemia Fatigue Respiratory insufficiency Migraine Vomiting Edema Anorexia Hemoptysis Weight loss Bone marrow hypocellularity Recurrent infections

Rare Symptoms - Less than 30% cases


Arthralgia Hematuria Confusion Raynaud phenomenon Proteinuria Pneumonia Respiratory failure Elevated erythrocyte sedimentation rate Abnormality of the liver Combined immunodeficiency Cutis marmorata Edema of the lower limbs Episodic fever Hypercoagulability Hepatitis Short stature Pleural effusion Urticaria Decreased antibody level in blood Reduced tendon reflexes Albinism Recurrent bacterial infections Peripheral demyelination Abnormal lung morphology Ascites Autoimmunity Muscular hypotonia Reduced consciousness/confusion Granulocytopenia Partial albinism Abnormality of neutrophils Stroke Histiocytosis Irritability Prolonged prothrombin time Immune dysregulation Hypoproteinemia Increased serum ferritin Increased CSF protein Hypoalbuminemia Increased intracranial pressure Coma Hypertonia Hypofibrinogenemia Failure to thrive Generalized hypotonia Polyclonal elevation of IgM Impaired lymphocyte transformation with phytohemagglutinin Monoclonal immunoglobulin M proteinemia Cellular immunodeficiency Chest pain Pruritus Increased total bilirubin Tetraplegia CSF pleocytosis Hypopigmentation of the skin Gait disturbance Petechiae Encephalopathy Pure red cell aplasia Lupus anticoagulant Retinal arterial occlusion Central retinal artery occlusion Lymphoproliferative disorder White hair Hepatic failure Abnormality of the nervous system Antiphospholipid antibody positivity Hemolytic anemia Accumulation of melanosomes in melanocytes Gliosis Abnormal eyebrow morphology Aspiration Hyperbilirubinemia Eosinophilia Panniculitis Iris hypopigmentation Abnormal eyelash morphology Cerebral hemorrhage Papule Ophthalmoplegia Paraplegia Multifocal epileptiform discharges Hemiparesis Foot dorsiflexor weakness Ischemic stroke Cutaneous anergy Leukocytosis Melanin pigment aggregation in hair shafts Agitation Reduced delayed hypersensitivity Aphasia Retinal hemorrhage Thrombocytosis Normocytic anemia Periorbital edema Abnormality of the retinal vasculature Erythema nodosum Increased antibody level in blood Abnormality of the coagulation cascade Neutropenia Nystagmus Spasticity Hydrocephalus Rigidity Lethargy Gastrointestinal hemorrhage Abnormality of movement Abnormal cerebellum morphology Malabsorption Progressive neurologic deterioration Vertigo Encephalocele Hyperlipidemia Hypopigmented skin patches Pyloric stenosis Polyneuropathy Premature graying of hair Intellectual disability Pallor Severe combined immunodeficiency Increased VLDL cholesterol concentration Acute leukemia Hearing impairment Prolonged partial thromboplastin time Decreased HDL cholesterol concentration Increased LDL cholesterol concentration Congestive heart failure T-cell lymphoma Visual loss Abnormal natural killer cell physiology Silver-gray hair Gingival bleeding Polyneuritis Epistaxis Plasmacytosis Lipogranulomatosis Proptosis Memory impairment Abnormality of lipid metabolism Irregular hyperpigmentation Dilatation Shock Sea-blue histiocytosis Muscle weakness Respiratory distress Arrhythmia Nausea Hypotension Hallucinations Lymphopenia Pancreatitis Cellulitis Absent axillary hair Pericarditis Myocarditis Chronic lung disease Recurrent pharyngitis Abnormality of the pleura Chills Endocarditis Sensorineural hearing impairment Dyspnea Sensory neuropathy Elevated serum acid phosphatase Mediastinal lymphadenopathy Joint dislocation Papilledema Hyperhidrosis Bone pain Osteolysis Hodgkin lymphoma Poor appetite Lung adenocarcinoma Diplopia Decreased liver function Abnormality of coagulation Dementia Chronic myelogenous leukemia Abnormality of the eye Retinopathy Cirrhosis Abnormal bleeding Subcutaneous nodule Hyperpigmentation of the skin Cafe-au-lait spot Autoimmune thrombocytopenia Blepharitis Mucopolysacchariduria Conjunctivitis Cerebral palsy Optic atrophy Demyelinating peripheral neuropathy Pulmonary fibrosis Interstitial pulmonary abnormality Bronchitis Recurrent sinusitis IgA deficiency IgG deficiency Chronic sinusitis Mild global developmental delay Recurrent viral infections IgM deficiency Scaling skin Conjunctival telangiectasia Generalized lymphadenopathy Elevated alpha-fetoprotein Enuresis nocturna Intraventricular hemorrhage Increased sensitivity to ionizing radiation Neonatal asphyxia Chromosomal breakage induced by ionizing radiation Poor hand-eye coordination Hypertension Emotional lability Recurrent pneumonia Nephritis Immunologic hypersensitivity Hemiplegia/hemiparesis Emphysema Pericardial effusion Abnormal heart valve morphology Glomerulopathy Uveitis Inflammatory abnormality of the eye Angioedema Complement deficiency Episcleritis Telangiectasia Obstructive lung disease Small vessel vasculitis Microcephaly Abnormal facial shape Erythema Abnormality of the cerebral white matter Dry skin Otitis media Specific learning disability Clumsiness Cryoglobulinemia



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Ventricular septal defect and Distal sensory impairment, related diseases and genetic alterations Macrocephaly and Irritability, related diseases and genetic alterations Cardiomyopathy and Pancreatitis, related diseases and genetic alterations Cognitive impairment and Fatigue, related diseases and genetic alterations Hypertension and Camptodactyly of finger, related diseases and genetic alterations Muscular hypotonia and Asthma, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more