Hepatomegaly, and Rheumatoid arthritis

Diseases related with Hepatomegaly and Rheumatoid arthritis

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

Top matches:

Systemic-onset juvenile idiopathic arthritis is marked by the severity of the extra-articular manifestations (fever, cutaneous eruptions) and by an equal sex ratio.

SYSTEMIC-ONSET JUVENILE IDIOPATHIC ARTHRITIS Is also known as systemic-onset jia|systemic juvenile rheumatoid arthritis|still disease|systemic polyarthritis

Related symptoms:

  • Visual impairment
  • Hepatomegaly
  • Fever
  • Splenomegaly
  • Visual loss


SOURCES: ORPHANET OMIM MENDELIAN

More info about SYSTEMIC-ONSET JUVENILE IDIOPATHIC ARTHRITIS

High match CINCA SYNDROME

Chronic Infantile Neurological, Cutaneous, and Articular (CINCA) syndrome is characterised by skin rash, joint involvement, chronic meningitis with granulocytes and, in some cases, sensorineural hearing loss and ocular signs.

CINCA SYNDROME Is also known as multisystem inflammatory disease, neonatal-onset|nomid syndrome|iomid syndrome|infantile-onset multisystem inflammatory disease|prieur-griscelli syndrome|neonatal-onset multisystem inflammatory disease|chronic neurologic cutaneous and articular syndrome|c

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Growth delay
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about CINCA SYNDROME

Familial Mediterranean fever (FMF) is an autoinflammatory disorder characterized by recurrent short episodes of fever and serositis resulting in pain in the abdomen, chest, joints and muscles.

FAMILIAL MEDITERRANEAN FEVER Is also known as benign paroxysmal peritonitis|familial paroxysmal polyserositis|benign recurrent polyserositis|polyserositis, familial paroxysmal|fmf|periodic disease|familial mediterranean fever, autosomal recessive|polyserositis, recurrent

Related symptoms:

  • Seizures
  • Pain
  • Anemia
  • Hepatomegaly
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL MEDITERRANEAN FEVER

Other less relevant matches:

High match FARBER DISEASE

Farber disease is a rare sphingolipid disorder characterized by a spectrum of clinical signs ranging from the classical triad of painful and progressively deformed joints, subcutaneous nodules, and progressive hoarseness (due to laryngeal involvement) that presents in infancy, to varying phenotypes with respiratory and neurologic involvement.

FARBER DISEASE Is also known as acid ceramidase deficiency|ac deficiency|farber lipogranulomatosis|ceramidase deficiency|farber disease|n-laurylsphingosine deacylase deficiency

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Nystagmus
  • Failure to thrive


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about FARBER DISEASE

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

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

Medium match BEHÇET DISEASE

Behçet's disease (BD) is a chronic, relapsing, multisystemic vasculitis characterized by mucocutaneous lesions, as well as articular, vascular, ocular and central nervous system manifestations.

BEHÇET DISEASE Is also known as bd|behcet disease

Related symptoms:

  • Seizures
  • Ataxia
  • Neoplasm
  • Pain
  • Cataract


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about BEHÇET DISEASE

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

Congenital atransferrinemia is a very rare hematologic disease caused by a transferrin (TF) deficiency and characterized by microcytic, hypochromic anemia (manifesting with pallor, fatigue and growth retardation) and iron overload, and that can be fatal if left untreated.

CONGENITAL ATRANSFERRINEMIA Is also known as hypotransferrinemia, familial|congenital hypotransferrinemia

Related symptoms:

  • Growth delay
  • Anemia
  • Hepatomegaly
  • Fatigue
  • Congestive heart failure


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CONGENITAL ATRANSFERRINEMIA

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

Top 5 symptoms//phenotypes associated to Hepatomegaly and Rheumatoid arthritis

Symptoms // Phenotype % cases
Splenomegaly Very Common - Between 80% and 100% cases
Arthritis Very Common - Between 80% and 100% cases
Anemia Common - Between 50% and 80% cases
Lymphadenopathy Common - Between 50% and 80% cases
Fever Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hepatomegaly and Rheumatoid arthritis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Arthralgia Hepatosplenomegaly Diarrhea Vasculitis Meningitis Recurrent infections Fatigue Autoimmunity Myalgia Skin rash Abdominal pain Nausea and vomiting Neoplasm Thrombocytopenia Leukemia Inflammation of the large intestine Renal insufficiency Recurrent respiratory infections Purpura Chest pain Juvenile rheumatoid arthritis Elevated erythrocyte sedimentation rate Nephropathy Pericarditis Uveitis Arrhythmia

Rare Symptoms - Less than 30% cases

Orchitis Congenital hypoplastic anemia Pleuritis Anemia of inadequate production Proteinuria Ascites Gout Erythema Malabsorption Systemic lupus erythematosus Chronic kidney disease Pancreatitis Myocardial infarction Congestive heart failure Subcutaneous nodule Cirrhosis Dyspnea Scarring Glomerulopathy Microcytic anemia Recurrent upper respiratory tract infections Lymphopenia Eczema Cough Pneumonia Jaundice Immunodeficiency Acute leukemia Hodgkin lymphoma Lymphoma Abnormality of the liver Joint stiffness Irritability Visual impairment Respiratory tract infection Headache Amyloidosis Blindness Edema Papule Migraine Joint swelling Growth delay Increased intracranial pressure Global developmental delay Pleural effusion Visual loss Leukocytosis Intellectual disability Serositis Urticaria Anterior uveitis Retrobulbar optic neuritis Pain Elevated C-reactive protein level Seizures Abnormal platelet function Photophobia Developmental regression Melena Retinopathy Abnormal pyramidal sign Stroke Hematemesis Paresthesia Confusion Weight loss Vertigo Gastrointestinal hemorrhage Memory impairment Abnormal blistering of the skin Hemiparesis Mitral regurgitation Anorexia Increased IgA level Aortic regurgitation Interstitial pneumonitis Cranial nerve paralysis Venous thrombosis Reduced visual acuity Dilatation Glaucoma Generalized lymphadenopathy Abnormal platelet morphology Internal hemorrhage Congenital thrombocytopenia Reduced delayed hypersensitivity Large vessel vasculitis Small vessel vasculitis Recurrent intrapulmonary hemorrhage Chronic leukemia Abnormal eosinophil morphology Absent microvilli on the surface of peripheral blood lymphocytes Abnormal delayed hypersensitivity skin test Reduced lymphocyte surface expression of CD43 Alopecia Specific anti-polysaccharide antibody deficiency Oral bleeding Acne Ataxia Cataract Bloody diarrhea Hyperreflexia Gait disturbance Behavioral abnormality Spontaneous hematomas Decreased mean platelet volume Encephalitis Aseptic necrosis Epiphora Abnormality of the cardiovascular system Falls Hyperbilirubinemia Cholelithiasis Prolonged neonatal jaundice Reticulocytosis Chronic myelogenous leukemia Increased total bilirubin Increased hemoglobin Increased red cell osmotic fragility Endopolyploidy on chromosome studies of bone marrow Reduced activity of N-acetylglucosaminyltransferase II Hypothyroidism Pallor Abnormality of the pancreas Decreased level of D-mannose in urine Hypochromic microcytic anemia Hypochromic anemia Atransferrinemia Decreased antibody level in blood Abnormal lung morphology Abnormal intestine morphology Psoriasiform dermatitis Interstitial pulmonary abnormality Autoimmune hemolytic anemia Thyroiditis Autoimmune thrombocytopenia Verrucae Impaired T cell function Hypopyon Epididymitis Blurred vision Stomatitis Keratoconjunctivitis sicca Hemoptysis Pulmonary embolism Abnormality of the menstrual cycle Pustule Pulmonary infiltrates Gangrene Raynaud phenomenon Myositis Cerebral ischemia Abnormal myocardium morphology Arterial thrombosis Recurrent aphthous stomatitis Alopecia areata Genital ulcers Endocarditis Oral ulcer Thrombophlebitis Erythema nodosum Immunologic hypersensitivity Chorioretinitis Optic neuritis Posterior uveitis Iridocyclitis Increased inflammatory response Iritis Superficial thrombophlebitis Panuveitis Membranoproliferative glomerulonephritis Iron deficiency anemia Increased IgE level Joint dislocation Erysipelas Gastrointestinal infarctions Renal amyloidosis Azotemia Recurrent meningitis Short stature Nystagmus Failure to thrive Motor delay Respiratory insufficiency Respiratory distress Kyphosis Osteoporosis Stiff neck Overgrowth Abnormality of the eye Premature birth Corneal opacity Decreased liver function Hydrops fetalis Hoarse voice Spontaneous abortion Abnormality of vision Laryngomalacia Decreased muscle mass Pulmonary fibrosis Reduced bone mineral density Synovitis Nonimmune hydrops fetalis Osteoarthritis Constipation Acidosis Abnormality of the kidney Abnormal granulocyte morphology Stage 5 chronic kidney disease Nausea Pseudopapilledema Abnormality of neutrophils Inflammatory abnormality of the eye Asthma Nephrotic syndrome Delayed closure of the anterior fontanelle Nephrocalcinosis Decreased circulating aldosterone level Abnormal thrombocyte morphology Arthropathy Intestinal obstruction Abnormal joint morphology Hyperkalemia Episodic fever Increased serum ferritin Progressive sensorineural hearing impairment Antinuclear antibody positivity Edema of the lower limbs Acute hepatic failure Oral leukoplakia Peritonitis Weak cry Histiocytosis Recurrent ear infections Hyperostosis Pancytopenia Epistaxis Recurrent otitis media Chronic diarrhea Sinusitis Skin ulcer Conjunctivitis Sarcoma Intracranial hemorrhage Glomerulosclerosis Glomerulonephritis Chronic otitis media Keratitis Otitis media Focal segmental glomerulosclerosis Combined immunodeficiency Petechiae Prolonged bleeding time Cellulitis Gingival bleeding Blepharitis Recurrent lower respiratory tract infections Hematochezia Chronic obstructive pulmonary disease Hypoplasia of the thymus IgM deficiency Specific learning disability Sudden cardiac death Psychomotor deterioration Lymphoproliferative disorder Hoarse cry Cherry red spot of the macula Periarticular subcutaneous nodules Lipogranulomatosis EEG abnormality Skeletal dysplasia Proptosis Neurodegeneration Hyperthyroidism Frontal bossing Macrocephaly B-cell lymphoma Chronic lymphatic leukemia Abnormal bleeding Cellular immunodeficiency Lymphocytosis Lung adenocarcinoma Non-Hodgkin lymphoma Peripheral neuropathy Brachydactyly Abnormal facial shape Sensorineural hearing impairment Hearing impairment Bruising susceptibility Hemolytic anemia Neutropenia Sepsis Decreased proportion of CD4-positive T cells


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