Arthritis, and Acute myeloid leukemia

Diseases related with Arthritis and Acute myeloid leukemia

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


Top matches:

Medium match DDX41-RELATED HEMATOLOGIC MALIGNANCY PREDISPOSITION SYNDROME


Familial myeloproliferative/lymphoproliferative neoplasms is an autosomal dominant cancer predisposition syndrome characterized by adult-onset of hematologic malignancies mainly affecting the myeloid line. Most patients present with myelodysplastic syndrome (MDS ) and/or acute myeloid leukemia (AML ). Rare lymphoid malignancies, including lymphoma, can also occur. Some mutation carriers, even if unaffected by a hematologic malignancy, may have evidence of immune dysregulation disorders, including asthma, eczema, or juvenile arthritis. The disorder shows incomplete penetrance (summary by Lewinsohn et al., 2016). Patients may show a favorable response to treatment with lenalidomide (summary by Polprasert et al., 2015).

Related symptoms:

  • Neoplasm
  • Anemia
  • Arthritis
  • Leukemia
  • Asthma


SOURCES: ORPHANET OMIM MENDELIAN

More info about DDX41-RELATED HEMATOLOGIC MALIGNANCY PREDISPOSITION SYNDROME

Low match PSORIASIS 1, SUSCEPTIBILITY TO; PSORS1


Psoriasis (psoriasis vulgaris; PV) is a chronic inflammatory dermatosis that affects approximately 2% of the population. It is characterized by red, scaly skin patches that are usually found on the scalp, elbows, and knees, and may be associated with severe arthritis. The lesions are caused by abnormal keratinocyte proliferation and infiltration of inflammatory cells into the dermis and epidermis. The usual age of onset of psoriasis is between 15 and 30 years, although it can present at any age (summary by Matthews et al., 1996).Generalized pustular psoriasis (GPP) is a life-threatening disease characterized by sudden, repeated episodes of high-grade fever, generalized rash, and disseminated pustules, with hyperleukocytosis and elevated serum levels of C-reactive protein (OMIM ) (summary by Marrakchi et al., 2011). GPP often presents in patients with existing or prior psoriasis vulgaris; however, GPP can develop without a history of PV (Sugiura et al., 2013). Palmoplantar pustulosis and acrodermatitis continua of Hallopeau represent acral forms of pustular psoriasis that have historically been grouped with GPP (summary by Setta-Kaffetzi et al., 2013).Nestle et al. (2009) provided a detailed review of the pathogenesis and genetics of psoriasis. Genetic Heterogeneity of Psoriasis and Psoriasis SusceptibilityPSORS2 (OMIM ) is caused by mutation in the CARD14 gene (OMIM ) on chromosome 17q25, and PSORS14 (OMIM ) is caused by mutation in the IL36RN gene (OMIM ) on chromosome 2q14.Psoriasis susceptibility loci include PSORS1 on 6p21.3; PSORS3 (OMIM ) on 4q; PSORS4 on 1q21; PSORS5 (OMIM ) on 3q21; PSORS6 (OMIM ) on 19p; PSORS7 (OMIM ) on 1p; PSORS8 (OMIM ) on 16q; PSORS9 (OMIM ) on 4q31; PSORS10 (OMIM ) on 18p11; PSORS11 (OMIM ) on 5q31-q33; PSORS12 (OMIM ) on 20q13; PSORS13 (OMIM ), conferred by variation in the TRAF3IP2 gene (OMIM ) on 6q21; and PSORS15 (OMIM ), conferred by variation in the AP1S3 gene (OMIM ) on 2q36.An additional putative psoriasis candidate locus has been reported on 20p (Nair et al., 1997).

Related symptoms:

  • Fever
  • Arthritis
  • Skin rash
  • Scaling skin
  • Psoriasiform dermatitis


SOURCES: OMIM MENDELIAN

More info about PSORIASIS 1, SUSCEPTIBILITY TO; PSORS1

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

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Other less relevant matches:

Low match WISKOTT-ALDRICH SYNDROME


Wiskott-Aldrich syndrome (WAS) is a primary immunodeficiency disease characterized by microthrombocytopenia, eczema, infections and an increased risk for autoimmune manifestations and malignancies.

WISKOTT-ALDRICH SYNDROME Is also known as aldrich syndrome|imd2|immunodeficiency 2|eczema-thrombocytopenia-immunodeficiency syndrome|was|was1|wiskott-aldrich syndrome 1

Related symptoms:

  • Neoplasm
  • Anemia
  • Peripheral neuropathy
  • Fever
  • Fatigue


SOURCES: OMIM ORPHANET MENDELIAN

More info about WISKOTT-ALDRICH SYNDROME

Low match CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE II


Congenital dyserythropoietic anemia type II (CDA II) is the most common form of CDA (see this term) characterized by anemia, jaundice and splenomegaly and often leading to liver iron overload and gallstones.

CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE II Is also known as dyserythropoietic anemia, congenital, type ii|cda ii|sec23b-cdg|hempas|hereditary erythroblastic multinuclearity with positive acidified-serum test|cda type ii|cda type 2|hereditary erythroblastic multinuclearity with a positive acidified-serum test (hemp

Related symptoms:

  • Anemia
  • Hepatomegaly
  • Congestive heart failure
  • Splenomegaly
  • Arrhythmia


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE II

Low match OSTEOCHONDRODYSPLASIA, BRACHYDACTYLY, AND OVERLAPPING MALFORMED DIGITS; OCBMD


Osteochondrodysplasia, brachydactyly, and overlapping malformed digits (OCBMD) is characterized by bilateral symmetric skeletal defects that primarily affect the limbs. Affected individuals have mild short stature due to shortening of the lower leg bones, as well as hand and foot malformations, predominantly brachydactyly and overlapping digits. Other skeletal defects include scoliosis, dislocated patellae and fibulae, and pectus excavatum (Shabbir et al., 2018).

Related symptoms:

  • Short stature
  • Scoliosis
  • Neoplasm
  • Pain
  • Brachydactyly


SOURCES: OMIM MENDELIAN

More info about OSTEOCHONDRODYSPLASIA, BRACHYDACTYLY, AND OVERLAPPING MALFORMED DIGITS; OCBMD

Low match COMPLEMENT COMPONENT 2 DEFICIENCY; C2D


COMPLEMENT COMPONENT 2 DEFICIENCY; C2D Is also known as c2 deficiency

Related symptoms:

  • Hypertension
  • Renal insufficiency
  • Immunodeficiency
  • Recurrent infections
  • Arthralgia


SOURCES: OMIM MENDELIAN

More info about COMPLEMENT COMPONENT 2 DEFICIENCY; C2D

Low match IMMUNODEFICIENCY 36; IMD36


IMD36 is a primary immunodeficiency with a highly heterogeneous clinical phenotype, characterized primarily by recurrent respiratory tract infections, lymphoproliferation, and antibody deficiency. Other features include growth retardation, mild neurodevelopmental delay, and autoimmunity. The major complication is development of B-cell lymphoma (Elkaim et al., 2016).

Related symptoms:

  • Growth delay
  • Diarrhea
  • Splenomegaly
  • Immunodeficiency
  • Recurrent respiratory infections


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY 36; IMD36

Low match MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 3; MVA3


MVA3 is an autosomal recessive disorder resulting from errors in chromosome segregation. Most affected individuals develop early-onset Wilms tumor and show either aneuploidy or premature chromatid separation in cells. Some patients may have additional developmental features, such as microcephaly, growth retardation, or developmental delay (summary by Yost et al., 2017).For a discussion of genetic heterogeneity of MVA, see MVA1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 3; MVA3

Low 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

Top 5 symptoms//phenotypes associated to Arthritis and Acute myeloid leukemia

Symptoms // Phenotype % cases
Leukemia Common - Between 50% and 80% cases
Neoplasm Uncommon - Between 30% and 50% cases
Lymphoma Uncommon - Between 30% and 50% cases
Immunodeficiency Uncommon - Between 30% and 50% cases
Autoimmunity Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Arthritis and Acute myeloid leukemia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Splenomegaly Anemia Lymphadenopathy Recurrent infections Chronic lymphatic leukemia Rheumatoid arthritis Systemic lupus erythematosus

Rare Symptoms - Less than 30% cases


Osteoarthritis Diarrhea Acute leukemia Vasculitis Intracranial hemorrhage B-cell lymphoma Lymphopenia Chronic diarrhea Recurrent upper respiratory tract infections Glomerulonephritis Renal insufficiency Inflammation of the large intestine Epistaxis Arrhythmia Recurrent respiratory infections Short stature Respiratory tract infection Hodgkin lymphoma Abnormal bleeding Growth delay Arthralgia Prolonged bleeding time Lymphoproliferative disorder Purpura Myeloid leukemia Thrombocytopenia Membranoproliferative glomerulonephritis Acute monocytic leukemia Eczema Fever Skin rash Congestive heart failure Hepatomegaly Postaxial polydactyly Specific anti-polysaccharide antibody deficiency Oral bleeding Pectus excavatum Reduced lymphocyte surface expression of CD43 Adducted thumb Abnormal delayed hypersensitivity skin test Mild short stature Absent microvilli on the surface of peripheral blood lymphocytes Broad hallux Polydactyly Anemia of inadequate production Brachydactyly Cholelithiasis Reticulocytosis Prolonged neonatal jaundice Chronic myelogenous leukemia Congenital hypoplastic anemia Increased total bilirubin Increased hemoglobin Increased red cell osmotic fragility Hyperbilirubinemia Jaundice Cirrhosis Endopolyploidy on chromosome studies of bone marrow Reduced activity of N-acetylglucosaminyltransferase II Abnormality of the liver Hepatosplenomegaly Scoliosis Gout Pain Decreased antibody level in blood Abnormality of digit Poor wound healing Premature chromatid separation Hematuria Gastrointestinal hemorrhage Hepatitis Abnormality of the coagulation cascade Prolonged partial thromboplastin time Prolonged prothrombin time Joint hemorrhage Spontaneous, recurrent epistaxis Arthrogryposis multiplex congenita Menometrorrhagia Persistent bleeding after trauma Intramuscular hematoma Prolonged bleeding after surgery Reduced factor IX activity Prolonged whole-blood clotting time Prolonged bleeding after dental extraction Delayed onset bleeding Nephroblastoma Severe global developmental delay Patellar dislocation Recurrent intrapulmonary hemorrhage T-cell lymphoma Short 2nd finger Hypertension Fatigable weakness Antinuclear antibody positivity Angioedema Discoid lupus rash Vasculitis in the skin Bronchiectasis Abnormality of the nervous system Recurrent bacterial infections Neurodevelopmental delay Allergy Recurrent sinopulmonary infections Enlarged tonsils Seizures Global developmental delay Microcephaly Nystagmus Chronic leukemia IgM deficiency Small vessel vasculitis Bruising susceptibility Non-Hodgkin lymphoma Peripheral neuropathy Fatigue Pneumonia Dyspnea Proteinuria Cough Hemolytic anemia Lymphocytosis Nephropathy Neutropenia Sepsis Chest pain Sudden cardiac death Otitis media Specific learning disability Pancytopenia Lung adenocarcinoma Cellular immunodeficiency Sinusitis Monocytosis Asthma Bone marrow hypocellularity Leukopenia Melanoma Myelodysplasia Immune dysregulation Refractory anemia Chronic myelomonocytic leukemia Hyperthyroidism Erythroid dysplasia Scaling skin Psoriasiform dermatitis Pustule Nail pits Palmoplantar pustulosis Onychomadesis Neurodegeneration Recurrent otitis media Skin ulcer Large vessel vasculitis Spontaneous hematomas Recurrent ear infections Increased IgE level Abnormality of the menstrual cycle Interstitial pneumonitis Increased IgA level Hematemesis Melena Bloody diarrhea Chronic obstructive pulmonary disease Generalized lymphadenopathy Abnormal eosinophil morphology Internal hemorrhage Abnormal platelet function Decreased mean platelet volume Abnormal platelet morphology Congenital thrombocytopenia Reduced delayed hypersensitivity Hypoplasia of the thymus Hematochezia Meningitis Keratitis Conjunctivitis Chronic kidney disease Sarcoma Urticaria Glomerulosclerosis Chronic otitis media Hyperostosis Focal segmental glomerulosclerosis Recurrent lower respiratory tract infections Combined immunodeficiency Petechiae Cellulitis Microcytic anemia Glomerulopathy Iron deficiency anemia Gingival bleeding Blepharitis Cephalohematoma



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