Lymphoma, and Dysmetria

Diseases related with Lymphoma and Dysmetria

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

Top matches:

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

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

Purine nucleoside phosphorylase (PNP) deficiency is a disorder of purine metabolism characterized by progressive immunodeficiency leading to recurrent and opportunistic infections, autoimmunity and malignancy as well as neurologic manifestations.

PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY Is also known as pnp deficiency|pnpase deficiency|nucleoside phosphorylase deficiency

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Ataxia
  • Failure to thrive
  • Muscular hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY

Other less relevant matches:

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

Dyskeratosis congenita is an inherited bone marrow failure syndrome classically characterized by the triad of mucosal leukoplakia, nail dysplasia, and abnormal skin pigmentation. Affected individuals have an increased risk of aplastic anemia and malignancy. Less common features include epiphora, premature gray hair, microcephaly, developmental delay, and pulmonary fibrosis, among others. The phenotype is highly variable. All affected individuals have shortened telomeres due to a defect in telomere maintenance (summary by Savage et al., 2008).For a discussion of genetic heterogeneity of dyskeratosis congenita, see DCKA1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3; DKCA3

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 PGM3-CDG

PGM3-CDG is a rare congenital disorder of glycosylation caused by mutations in the PGM3 gene and characterized by neonatal to childhood onset of recurrent bacterial and viral infections, inflammatory skin diseases, atopic dermatitis and atopic diatheses, and marked serum IgE elevation. Early neurologic impairment is evident including developmental delay, intellectual disability, ataxia, dysarthria, sensorineural hearing loss, myoclonus and seizures.

PGM3-CDG Is also known as cid due to pgm3 deficiency|immunodeficiency with hyper ige and cognitive impairment|pgm3-related congenital disorder of glycosylation|combined immunodeficiency due to pgm3 deficiency|immunodeficiency-vasculitis-myoclonus syndrome|ivms

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PGM3-CDG

Celiac disease, also known as celiac sprue and gluten-sensitive enteropathy (GSE), is a multifactorial disorder of the small intestine that is influenced by both environmental and genetic factors. It is characterized by malabsorption resulting from inflammatory injury to the mucosa of the small intestine after the ingestion of wheat gluten or related rye and barley proteins (summary by Farrell and Kelly, 2002). Long regarded as gastrointestinal disorder of childhood, the disease is now considered to be a chronic systemic autoimmune disease and is more often diagnosed in adults than in children (Monsuur et al., 2005).For a discussion of genetic heterogeneity of celiac disease, see MAPPING.

CELIAC DISEASE, SUSCEPTIBILITY TO, 1; CELIAC1 Is also known as celiac sprue, susceptibility to, 1|gluten-sensitive enteropathy, susceptibility to, 1

Related symptoms:

  • Seizures
  • Short stature
  • Ataxia
  • Failure to thrive
  • Anemia


SOURCES: OMIM MENDELIAN

More info about CELIAC DISEASE, SUSCEPTIBILITY TO, 1; CELIAC1

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

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

Top 5 symptoms//phenotypes associated to Lymphoma and Dysmetria

Symptoms // Phenotype % cases
Ataxia Very Common - Between 80% and 100% cases
Anemia Common - Between 50% and 80% cases
Splenomegaly Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Leukopenia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Lymphadenopathy Hepatomegaly Leukemia Peripheral neuropathy Pancytopenia Fever Neoplasm Recurrent infections Immunodeficiency Failure to thrive Thrombocytopenia Generalized hypotonia Global developmental delay Weight loss Vasculitis Bone marrow hypocellularity Cranial nerve paralysis Intellectual disability Hearing impairment Autoimmunity Abnormality of the nervous system Neutropenia Gastrointestinal hemorrhage Diarrhea Skin rash Short stature Recurrent respiratory infections Fatigue

Rare Symptoms - Less than 30% cases

Microcephaly Meningitis Gingival bleeding Sensory neuropathy Epistaxis Abdominal pain Hypofibrinogenemia Sensorineural hearing impairment Autoimmune neutropenia Recurrent bacterial infections Lymphopenia Tetraplegia Arthralgia Cerebral calcification Urticaria Hypertriglyceridemia Partial albinism Hemophagocytosis Prolonged prothrombin time Prolonged partial thromboplastin time Hyporeflexia Pulmonary infiltrates Severe combined immunodeficiency Combined immunodeficiency Abnormality of the coagulation cascade Albinism Eczema Purpura Inflammatory abnormality of the skin Peripheral demyelination Pleural effusion Hemolytic anemia Irritability Elevated hepatic transaminase Hepatosplenomegaly Jaundice Scoliosis Malabsorption Polyneuropathy Abnormal intestine morphology Hyperpigmentation of the skin Delayed speech and language development Osteoporosis Alopecia Tremor Renal insufficiency Gliosis Gait disturbance Respiratory insufficiency Migraine Decreased nerve conduction velocity Anorexia Hodgkin lymphoma Hemoptysis Cellular immunodeficiency Cough Babinski sign Cerebellar atrophy Pruritus Monoclonal immunoglobulin M proteinemia Abnormality of neutrophils Nystagmus Acute leukemia Impaired lymphocyte transformation with phytohemagglutinin Polyclonal elevation of IgM Muscular hypotonia Dysarthria White hair Generalized hypopigmentation Spinocerebellar tract degeneration Spontaneous abortion Allergic rhinitis Membranoproliferative glomerulonephritis Fair hair Periodontitis Type I diabetes mellitus Vasculitis in the skin Depressivity Cortical myoclonus Vomiting Chronic diarrhea Anxiety Postnatal growth retardation Gingivitis Delayed puberty Iris hypopigmentation Abdominal distention Nevus Hypocalcemia Resting tremor Hypopigmentation of hair Generalized hyperpigmentation Hypoplasia of dental enamel Infertility Hypopigmentation of the skin Atopic dermatitis Recurrent cutaneous abscess formation Polyneuritis Plasmacytosis Lipogranulomatosis Abnormal natural killer cell physiology Recurrent systemic pyogenic infections Abnormal facial shape Cognitive impairment High palate Brachydactyly Abnormality of the skeletal system Abnormality of multiple cell lineages in the bone marrow Myoclonus Gastroesophageal reflux Giant melanosomes in melanocytes Abnormal leukocyte morphology Glomerulonephritis Conductive hearing impairment Respiratory tract infection Erythema Asthma Sensory impairment Oculogyric crisis Recurrent bacterial skin infections Macular hypoplasia Bronchiectasis Hypersplenism Malnutrition Narrow palpebral fissure Recurrent skin infections Progressive peripheral neuropathy Rickets Iron deficiency anemia Steatorrhea Atrial septal defect Abnormality of the retinal vasculature Reduced consciousness/confusion Bradykinesia Brain atrophy Periorbital edema Parkinsonism Normocytic anemia Retinal hemorrhage Multifocal epileptiform discharges Cryoglobulinemia Strabismus Visual impairment Skeletal muscle atrophy Edema Areflexia Hypercoagulability Spastic paraplegia Bruising susceptibility Falls Peripheral axonal neuropathy Paresthesia Paraplegia Abnormality of movement Developmental regression Reduced visual acuity Abnormal bleeding Abnormality of the eye Mental deterioration Rigidity Photophobia Difficulty walking Lymphoproliferative disorder Edema of the lower limbs Sensory axonal neuropathy Abnormality of vision Folate deficiency Abnormality of the abdominal wall Recurrent aphthous stomatitis Stomatitis Chronic fatigue Thrombocytosis Melanocytic nevus Vitamin K deficiency Cerebral hemorrhage Neurodegeneration Thyroiditis IgA deficiency Macrocytic anemia Celiac disease Vitamin D deficiency Vitamin B12 deficiency Raynaud phenomenon Skin ulcer Abnormality of extrapyramidal motor function Cutaneous photosensitivity Elevated erythrocyte sedimentation rate Cutis marmorata Amblyopia Memory impairment Foot dorsiflexor weakness Congestive heart failure Vertigo Stroke Pallor Proptosis Visual loss Headache CSF pleocytosis Hypertonia Increased VLDL cholesterol concentration Recurrent viral infections Behavioral abnormality Pneumonia Abnormal pyramidal sign Otitis media Spastic tetraplegia Tetraparesis Recurrent urinary tract infections Sinusitis Spastic tetraparesis Recurrent upper respiratory tract infections Spastic diplegia Autoimmune hemolytic anemia Autoimmune thrombocytopenia Recurrent lower respiratory tract infections Impaired T cell function Spasticity Pain Hematuria Nausea and vomiting Proteinuria Arthritis Myalgia Dyspnea Abnormality of B cell physiology Hypouricemia Lymph node hypoplasia Brain abscess Cerebral vasculitis Recurrent opportunistic infections Abnormal T cell morphology Pure red cell aplasia Motor delay Lung adenocarcinoma Conjunctivitis Aplasia/Hypoplasia of the cerebellum Hyperreflexia Gait ataxia Neurological speech impairment Abnormality of the cerebral white matter Unsteady gait Distal sensory impairment Postural instability Progressive cerebellar ataxia Decreased antibody level in blood Telangiectasia Clonus Incoordination Myelodysplasia Ankle clonus Poor appetite Hypoplastic anemia Osteolysis Bone pain Chest pain Hyperhidrosis Abnormal macrophage morphology Acute myelomonocytic leukemia Increased sensitivity to ionizing radiation Myeloid leukemia Abnormal platelet function Vertical nystagmus Gait imbalance Hyperactive deep tendon reflexes Impaired vibration sensation in the lower limbs Acute myeloid leukemia Ascites Joint dislocation T-cell lymphoma Increased intracranial pressure Oral leukoplakia Aplastic anemia Esophageal stricture Phimosis Reticulated skin pigmentation Pulmonary hemorrhage Encephalopathy Abnormality of the liver Confusion Hepatic failure Coma Sepsis Aspiration Hyperbilirubinemia Eosinophilia Interstitial pulmonary abnormality Hypoproteinemia Granulocytopenia Increased total bilirubin Increased LDL cholesterol concentration Histiocytosis Decreased HDL cholesterol concentration Generalized edema Increased serum ferritin Encephalitis Increased CSF protein Episodic fever Increased antibody level in blood Hyponatremia Hemiplegia Hypoalbuminemia Aseptic necrosis Premature graying of hair Cerebral palsy Glomerulopathy Immunologic hypersensitivity Complement deficiency Angioedema Inflammatory abnormality of the eye Uveitis Irregular hyperpigmentation Abnormal heart valve morphology Obstructive lung disease Pericardial effusion Restrictive ventilatory defect Emphysema Hemiplegia/hemiparesis Nephritis Reduced tendon reflexes Episcleritis Small vessel vasculitis Pulmonary fibrosis Dry skin Epiphora Portal hypertension Abnormal lung morphology Fine hair Nail dysplasia Abnormality of skin pigmentation Nail dystrophy Growth delay Retinopathy Osteopenia Cerebellar hypoplasia Intrauterine growth retardation Hypertension Cryptorchidism Generalized hypopigmentation of hair


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