Arthritis, and Thrombocytopenia

Diseases related with Arthritis and Thrombocytopenia

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


Top matches:

Low match B-CELL CHRONIC LYMPHOCYTIC LEUKEMIA


B-cell chronic lymphocytic leukemia (B-CLL) is a type of B-cell non-Hodgkin lymphoma (see this term), and the most common form of leukemia in Western countries, affecting elderly adults (mean age of 67 and 72 years) with a slight male predominance (1.7:1), and characterized by a highly variable clinical presentation that can include asymptomatic disease or non-specific B-symptoms such as unintentional weight loss, severe fatigue, fever (without evidence of infection), and night sweats as well as cervical lymphadenopathy, splenomegaly and frequent infections. Some patients can also develop autoimmune complications such as autoimmune hemolytic anemia or immune thrombocytopenia (see these terms). The clinical course is extremely heterogeneous with survival ranging from a few months to several decades.

B-CELL CHRONIC LYMPHOCYTIC LEUKEMIA Is also known as b-cll|small lymphocytic lymphoma|b-cell chronic lymphoid leukemia|leukemia, chronic lymphatic

Related symptoms:

  • Neoplasm
  • Anemia
  • Splenomegaly
  • Recurrent infections
  • Thrombocytopenia


SOURCES: OMIM ORPHANET MENDELIAN

More info about B-CELL CHRONIC LYMPHOCYTIC LEUKEMIA

Low match SITOSTEROLEMIA


Sitosterolemia is a rare autosomal recessive sterol storage disease characterized by the accumulation of phytosterols in the blood and tissues. Clinical manifestations include xanthomas, arthralgia and premature atherosclerosis. Hematological manifestations include hemolytic anemia with stomatocytosis and macrothrombocytopenia. The disease is caused by homozygous or compound heterozygous mutations in ABCG5 (2p21) and ABCG8 (2p21) genes.

SITOSTEROLEMIA Is also known as stsl|phytosterolemia

Related symptoms:

  • Short stature
  • Pain
  • Anemia
  • Splenomegaly
  • Abdominal pain


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about SITOSTEROLEMIA

Low match AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME DUE TO CTLA4 HAPLOINSUFFIENCY


Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency is a rare, primary immunodeficiency characterized by variable combination of enteropathy, hypogammaglobulinemia, recurrent respiratory infections, granulomatous lymphocytic interstitial lung disease, lymphocytic infiltration of non-lymphoid organs (intestine, lung, brain, bone marrow, kidney), autoimmune thrombocytopenia or neutropenia, autoimmune hemolytic anemia and lymphadenopathy.

AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME DUE TO CTLA4 HAPLOINSUFFIENCY Is also known as alps due to ctla4 haploinsuffiency|chai|ctla4 haploinsufficiency with autoimmune infiltration|ctla-4 haploinsufficiency with autoimmune infiltration disease

Related symptoms:

  • Hepatomegaly
  • Diarrhea
  • Splenomegaly
  • Immunodeficiency
  • Recurrent infections


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME DUE TO CTLA4 HAPLOINSUFFIENCY

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Other less relevant matches:

Low match IMMUNE DYSREGULATION-POLYENDOCRINOPATHY-ENTEROPATHY-X-LINKED SYNDROME


Immunodysregulation - polyendocrinopathy - enteropathy - X-linked (IPEX) syndrome is a severe congenital systemic autoimmune disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections.

IMMUNE DYSREGULATION-POLYENDOCRINOPATHY-ENTEROPATHY-X-LINKED SYNDROME Is also known as enteropathy, autoimmune, with hemolytic anemia and polyendocrinopathy|ipex|autoimmune enteropathy type 1|iddm-secretory diarrhea syndrome|x-linked autoimmunity-allergic dysregulation syndrome|polyendocrinopathy, immune dysfunction, and diarrhea, x-linked|

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Anemia
  • Intrauterine growth retardation
  • Diarrhea


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about IMMUNE DYSREGULATION-POLYENDOCRINOPATHY-ENTEROPATHY-X-LINKED SYNDROME

Low match STAT3-RELATED EARLY-ONSET MULTISYSTEM AUTOIMMUNE DISEASE


Infantile-onset multisystem autoimmune disease-1 is characterized by early childhood onset of a spectrum of autoimmune disorders affecting multiple organs. Common manifestations include insulin-dependent diabetes mellitus and autoimmune enteropathy, or celiac disease, and autoimmune hematologic disorders. Other features include short stature and nonspecific dermatitis. More variable features include hypothyroidism, autoimmune arthritis, and delayed puberty. Some patients may show recurrent infections. The disorder results from an inborn error of cytokine signaling (summary by Flanagan et al., 2014 and Milner et al., 2015). Genetic Heterogeneity of Infantile-Onset Multisystem Autoimmune DiseaseSee also ADMIO2 (OMIM ), caused by mutation in the ZAP70 gene (OMIM ) on chromosome 2q12.

Related symptoms:

  • Short stature
  • Pain
  • Anemia
  • Abnormality of the dentition
  • Immunodeficiency


SOURCES: OMIM ORPHANET MENDELIAN

More info about STAT3-RELATED EARLY-ONSET MULTISYSTEM AUTOIMMUNE DISEASE

Low match AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3


Autoimmune lymphoproliferative syndrome type III is an autosomal recessive disorder of immune dysregulation. The phenotype is variable, but most patients have significant lymphadenopathy associated with variable autoimmune manifestations. Some patients may have recurrent infections. Lymphocyte accumulation results from a combination of impaired apoptosis and excessive proliferation (summary by Oliveira, 2013).For a general description and a discussion of genetic heterogeneity of ALPS, see {601859}.

AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3 Is also known as cvid9, formerly|immunodeficiency, common variable, 9, formerly

Related symptoms:

  • Anemia
  • Hepatomegaly
  • Splenomegaly
  • Immunodeficiency
  • Recurrent infections


SOURCES: OMIM MENDELIAN

More info about AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3

Low match METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA TYPE CBLF


cblF type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures.

METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA TYPE CBLF Is also known as cobalamin, defect in lysosomal release of|cobalamin f defect|combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblf|cblf|vitamin b12 storage disease|vitamin b12 lysosomal release defect|methylmalonic aciduria due to vitamin b12-rele

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA TYPE CBLF

Low match SYSTEMIC LUPUS ERYTHEMATOSUS


Systemic lupus erythematosus (SLE) is a complex autoimmune disease characterized by production of autoantibodies against nuclear, cytoplasmic, and cell surface molecules that transcend organ-specific boundaries. Tissue deposition of antibodies or immune complexes induces inflammation and subsequent injury of multiple organs and finally results in clinical manifestations of SLE, including glomerulonephritis, dermatitis, thrombosis, vasculitis, seizures, and arthritis. Evidence strongly suggests the involvement of genetic components in SLE susceptibility (summary by Oishi et al., 2008). Genetic Heterogeneity of Systemic Lupus ErythematosusAn autosomal recessive form of systemic lupus erythematosus (SLEB16 ) is caused by mutation in the DNASE1L3 gene (OMIM ) on chromosome 3p14.3.See MAPPING and MOLECULAR GENETICS sections for a discussion of genetic heterogeneity of susceptibility to SLE.

SYSTEMIC LUPUS ERYTHEMATOSUS Is also known as disseminated lupus erythematosus|sle

Related symptoms:

  • Seizures
  • Short stature
  • Cognitive impairment
  • Anemia
  • Fatigue


SOURCES: OMIM ORPHANET MENDELIAN

More info about SYSTEMIC LUPUS ERYTHEMATOSUS

Low match PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3; PRAAS3


Proteasome-associated autoinflammatory syndrome-3 is an autosomal recessive syndrome with onset in early infancy. Affected individuals present with nodular dermatitis, recurrent fever, myositis, panniculitis-induced lipodystrophy, lymphadenopathy, and dysregulation of the immune response, particularly associated with abnormal type I interferon-induced gene expression patterns. Additional features are highly variable, but may include joint contractures, hepatosplenomegaly, anemia, thrombocytopenia, recurrent infections, autoantibodies, and hypergammaglobulinemia. Some patients may have intracranial calcifications (summary by Brehm et al., 2015).For a discussion of genetic heterogeneity of PRAAS, see PRAAS1 (OMIM ).

Related symptoms:

  • Failure to thrive
  • Anemia
  • Flexion contracture
  • Fever
  • Dysphagia


SOURCES: OMIM MENDELIAN

More info about PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3; PRAAS3

Low match COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA; CIMAH


Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia is an inborn error of folate metabolism due to deficiency of methylenetetrahydrofolate dehydrogenase-1. Manifestations may include hemolytic uremic syndrome, macrocytosis, epilepsy, hearing loss, retinopathy, mild mental retardation, lymphopenia involving all subsets, and low T-cell receptor excision circles. Folinic acid supplementation is an effective treatment (summary by Ramakrishnan et al., 2016).

COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA; CIMAH Is also known as methylenetetrahydrofolate dehydrogenase 1 deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Sensorineural hearing impairment
  • Anemia


SOURCES: OMIM MENDELIAN

More info about COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA; CIMAH

Top 5 symptoms//phenotypes associated to Arthritis and Thrombocytopenia

Symptoms // Phenotype % cases
Anemia Very Common - Between 80% and 100% cases
Recurrent infections Common - Between 50% and 80% cases
Autoimmunity Common - Between 50% and 80% cases
Lymphadenopathy Common - Between 50% and 80% cases
Hemolytic anemia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Arthritis and Thrombocytopenia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Immunodeficiency Thyroiditis Skin rash Lymphopenia Autoimmune hemolytic anemia Autoimmune thrombocytopenia Inflammatory abnormality of the skin Arthralgia Splenomegaly Rheumatoid arthritis Pneumonia Increased antibody level in blood Decreased antibody level in blood Eczema Seizures Short stature Abnormal intestine morphology Failure to thrive Hepatosplenomegaly Systemic lupus erythematosus

Rare Symptoms - Less than 30% cases


Diabetes mellitus Abnormality of the skin Acidosis Megaloblastic anemia Interstitial pulmonary abnormality Antinuclear antibody positivity Fever Abnormal lung morphology Respiratory tract infection Hypothyroidism Nephritis Nephrotic syndrome Pancytopenia Type I diabetes mellitus Abnormality of the thyroid gland Leukopenia Immune dysregulation Neutropenia Decreased methylcobalamin Psychosis Macrocytic anemia Sinusitis Purpura Glomerulonephritis Intellectual disability Recurrent respiratory infections Erythema Diarrhea Lymphocytosis Pain Lymphoproliferative disorder Hypercholesterolemia Hepatomegaly Leukemia Fatigue Retinopathy Cognitive impairment Cystathioninemia Pallor Intellectual disability, mild Decreased methionine synthase activity Decreased adenosylcobalamin Megaloblastic bone marrow Metabolic acidosis Midface retrusion Bilateral sensorineural hearing impairment Recurrent urinary tract infections Cystathioninuria Combined immunodeficiency Hyperhomocystinemia Hemolytic-uremic syndrome Lethargy Aciduria Septic arthritis Asthenia Folate deficiency Incoordination Anisocytosis Thrombocytosis Juvenile rheumatoid arthritis Stomatitis Severe combined immunodeficiency Methylmalonic aciduria Homocystinuria Methylmalonic acidemia Glossitis Alopecia Cutaneous photosensitivity Memory impairment Hypermelanotic macule Malar rash Serositis Flexion contracture Calcinosis Microtia Myositis Microcytic anemia Dysphagia Bronchiolitis Keratitis Lipodystrophy Conjunctivitis Hypertriglyceridemia Cerebral calcification Scarring Elevated hepatic transaminase Complement deficiency Antiphospholipid antibody positivity Vasculitis Hashimoto thyroiditis Vomiting Hypertension Abnormality of coagulation Sensorineural hearing impairment Pericarditis Aseptic necrosis Epiphyseal stippling Gangrene Hypochromic anemia Hearing impairment Raynaud phenomenon Bronchiolitis obliterans organizing pneumonia Finger swelling Bronchiolitis obliterans Pleuritis Panniculitis Small for gestational age Neoplasm Developmental regression Premature coronary artery atherosclerosis Impaired platelet aggregation Stomatocytosis Hypersplenism Increased mean platelet volume Macrothrombocytopenia Xanthelasma Giant platelets Chronic hemolytic anemia Spinal cord compression Accelerated atherosclerosis Abnormality of the integument Episodic hemolytic anemia Tuberous xanthoma Hyperapobetalipoproteinemia Recurrent upper respiratory tract infections Psoriasiform dermatitis Verrucae Xanthomatosis Reticulocytosis Decreased proportion of CD4-positive T cells Cellular immunodeficiency Neurodegeneration Lymphoma Hyperthyroidism Hodgkin lymphoma Acute leukemia B-cell lymphoma Chronic lymphatic leukemia Lung adenocarcinoma Coronary artery atherosclerosis Non-Hodgkin lymphoma Abdominal pain Abnormality of the liver Paraplegia Abnormal bleeding Abnormality of the cardiovascular system Hyperbilirubinemia Atherosclerosis Impaired T cell function Growth delay Feeding difficulties in infancy Global developmental delay Primary hypothyroidism Interstitial pneumonitis Shock Elevated erythrocyte sedimentation rate Recurrent sinusitis Generalized lymphadenopathy Membranous nephropathy Generalized hypotonia Atopic dermatitis Ataxia Muscular hypotonia Low-set ears High palate Feeding difficulties Epicanthus Abnormal heart morphology Thin upper lip vermilion Recurrent ear infections Scleroderma Intrauterine growth retardation Malnutrition Sepsis Hepatitis Cardiac arrest Eosinophilia Erythroderma Hyperglycemia Abnormality of the coagulation cascade Ketoacidosis Celiac disease Villous atrophy Ileus Pancreatic hypoplasia Intractable diarrhea Secretory diarrhea Abnormality of the dentition Delayed puberty Colitis Thiamine-responsive megaloblastic anemia



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