Arthritis, and Chronic myelogenous leukemia

Diseases related with Arthritis and Chronic myelogenous leukemia

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


Top matches:

Medium 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

Medium match ACHONDROPLASIA; ACH


Achondroplasia is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand (summary by Bellus et al., 1995).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: MESH OMIM MENDELIAN

More info about ACHONDROPLASIA; ACH

Medium 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:

Medium 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

Medium 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 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 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 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 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 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 Chronic myelogenous leukemia

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

Patients with Arthritis and Chronic myelogenous leukemia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Splenomegaly Autoimmunity Rheumatoid arthritis Systemic lupus erythematosus Lymphadenopathy Recurrent infections Osteoarthritis Arthralgia Chronic lymphatic leukemia

Rare Symptoms - Less than 30% cases


Recurrent respiratory infections Abnormal bleeding Otitis media Recurrent otitis media Respiratory tract infection Membranoproliferative glomerulonephritis Myeloid leukemia Prolonged bleeding time Glomerulonephritis Intracranial hemorrhage Recurrent ear infections Purpura Vasculitis Epistaxis Eczema Thrombocytopenia Acute monocytic leukemia Arrhythmia Hodgkin lymphoma Acute leukemia B-cell lymphoma Lymphoproliferative disorder Renal insufficiency Fever Inflammation of the large intestine Recurrent upper respiratory tract infections Lymphopenia Chronic diarrhea Diarrhea Skin rash Chronic otitis media Brachydactyly Growth delay Scoliosis Hypertension Short stature Pain Monocytosis Sinusitis Sepsis Joint hemorrhage Chest pain Sudden cardiac death Specific learning disability Prolonged prothrombin time Pancytopenia Prolonged partial thromboplastin time Meningitis Skin ulcer Abnormality of the coagulation cascade Conjunctivitis Chronic kidney disease Hepatitis Sarcoma Urticaria Glomerulosclerosis Gastrointestinal hemorrhage Hyperostosis Keratitis Focal segmental glomerulosclerosis Neutropenia Hemolytic anemia Nephropathy Recurrent sinopulmonary infections Decreased antibody level in blood Delayed onset bleeding Prolonged bleeding after dental extraction Bronchiectasis Prolonged whole-blood clotting time Recurrent bacterial infections Reduced factor IX activity Prolonged bleeding after surgery Intramuscular hematoma Neurodevelopmental delay Allergy Enlarged tonsils Petechiae Peripheral neuropathy Persistent bleeding after trauma Fatigue Menometrorrhagia Spontaneous, recurrent epistaxis Pneumonia Poor wound healing Dyspnea Proteinuria Cough Bruising susceptibility Combined immunodeficiency Hematuria Refractory anemia Scaling skin Small vessel vasculitis Recurrent intrapulmonary hemorrhage Chronic leukemia Antinuclear antibody positivity Absent microvilli on the surface of peripheral blood lymphocytes Abnormal delayed hypersensitivity skin test Reduced lymphocyte surface expression of CD43 Specific anti-polysaccharide antibody deficiency Oral bleeding Fatigable weakness Erythroid dysplasia Psoriasiform dermatitis Reduced delayed hypersensitivity Pustule Chronic myelomonocytic leukemia Nail pits Palmoplantar pustulosis Onychomadesis Asthma Bone marrow hypocellularity Leukopenia Melanoma Myelodysplasia Acute myeloid leukemia Immune dysregulation Large vessel vasculitis Congenital thrombocytopenia Cellulitis Abnormality of the menstrual cycle Microcytic anemia Glomerulopathy Iron deficiency anemia Gingival bleeding Blepharitis Recurrent lower respiratory tract infections Hematochezia Vasculitis in the skin Chronic obstructive pulmonary disease Hypoplasia of the thymus IgM deficiency Increased IgE level Discoid lupus rash Abnormal platelet morphology Angioedema Interstitial pneumonitis Increased IgA level Hematemesis Melena Spontaneous hematomas Bloody diarrhea Generalized lymphadenopathy Abnormal eosinophil morphology Internal hemorrhage Abnormal platelet function Decreased mean platelet volume Anemia of inadequate production Adducted thumb Congestive heart failure Cholelithiasis Apnea Hyperlordosis Scarring Joint hyperflexibility Micromelia Confusion Oral cleft Sleep disturbance Prolonged neonatal jaundice Overgrowth Lumbar hyperlordosis Epidermal acanthosis Tetraparesis Abnormal form of the vertebral bodies Abnormality of the nervous system Abnormality of the metaphysis Abnormal lung morphology Recurrent urinary tract infections Rhizomelia Short toe Clonus Paraparesis Acanthosis nigricans Sleep apnea Infantile muscular hypotonia Short long bone Disproportionate short-limb short stature Tinnitus Cleft lip Conductive hearing impairment Genu varum Depressed nasal bridge Congenital hypoplastic anemia Increased total bilirubin Increased hemoglobin Increased red cell osmotic fragility Endopolyploidy on chromosome studies of bone marrow Reduced activity of N-acetylglucosaminyltransferase II Intellectual disability Generalized hypotonia Hearing impairment Gout Flexion contracture Delayed speech and language development Motor delay Hyperreflexia Rigidity Macrocephaly Frontal bossing Abnormality of the skeletal system Ventriculomegaly Hydrocephalus Malar flattening Midface retrusion Obesity Severe short stature Weight loss Gastroesophageal reflux Skeletal dysplasia Reticulocytosis Abnormality of pelvic girdle bone morphology Back pain Short 2nd finger Jaundice Small foramen magnum Childhood onset short-limb short stature Brain stem compression Limited hip extension Trident hand Spinal stenosis with reduced interpedicular distance Myelitis Lumbar kyphosis in infancy Hyperbilirubinemia Cirrhosis Abnormality of the liver Hepatosplenomegaly Neurodegeneration Hyperthyroidism Cervical cord compression Hepatomegaly Cellular immunodeficiency Lymphocytosis Lung adenocarcinoma Non-Hodgkin lymphoma Pectus excavatum Polydactyly Postaxial polydactyly Mild short stature Broad hallux Abnormality of digit Patellar dislocation T-cell lymphoma Iritis Hypopnea Epiphyseal dysplasia Megalencephaly Spondyloepiphyseal dysplasia Flared metaphysis Short femoral neck Bowel incontinence Limited elbow extension Tibial bowing Disproportionate short stature Neuroblastoma Hip contracture Spinal canal stenosis Abnormality of the elbow Obstructive sleep apnea Spinal cord compression Osteopetrosis Obstructive lung disease Generalized joint laxity Communicating hydrocephalus Upper airway obstruction Dysuria Central apnea Abnormality of femur morphology Cor pulmonale Multiple epiphyseal dysplasia Hypoxemia Myelopathy Thoracolumbar kyphosis Neonatal short-limb short stature Central sleep apnea Cervical myelopathy Cephalohematoma



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