Autoimmunity, and Rheumatoid arthritis

Diseases related with Autoimmunity and Rheumatoid arthritis

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


Top matches:

Medium match PSORIASIS-RELATED JUVENILE IDIOPATHIC ARTHRITIS


Juvenile psoriatic arthritis is a relatively rare form of juvenile idiopathic arthritis (JIA) representing less than 10% of all JIA cases.

PSORIASIS-RELATED JUVENILE IDIOPATHIC ARTHRITIS Is also known as psoriasis-related jia|juvenile psoriatic arthritis

Related symptoms:

  • Arthritis
  • Autoimmunity
  • Inflammatory abnormality of the skin
  • Psoriasiform dermatitis
  • Juvenile rheumatoid arthritis


SOURCES: OMIM ORPHANET MENDELIAN

More info about PSORIASIS-RELATED JUVENILE IDIOPATHIC ARTHRITIS

Medium match AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6; AIS6


Related symptoms:

  • Arthritis
  • Systemic lupus erythematosus
  • Rheumatoid arthritis
  • Colitis
  • Ulcerative colitis


SOURCES: OMIM MENDELIAN

More info about AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6; AIS6

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 SYSTEMIC-ONSET JUVENILE IDIOPATHIC ARTHRITIS


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

Medium 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 BLAU SYNDROME; BLAUS


Blau syndrome is characterized by the triad of granulomatous arthritis, uveitis, and dermatitis. First described in 1985, it was considered to be distinct from sarcoidosis due to the early age of onset and autosomal dominant inheritance pattern. Published reports of sporadic cases of children with 'early-onset sarcoidosis' (EOS) with granulomatous involvement of different organs, primarily affecting joints, eyes, and skin, were suspected to represent the same disorder because the patients' characteristics were nearly identical. Subsequently, identical NOD2 mutations were identified in patients with Blau syndrome as well as in patients diagnosed with EOS, confirming earlier suspicions that they represented the same disease (summary by Borzutzky et al., 2010). Unlike older children diagnosed with sarcoidosis, these patients have no apparent pulmonary involvement; however, the disease is progressive and may result in severe complications such as blindness and/or joint destruction (Shetty and Gedalia, 1998).

BLAU SYNDROME; BLAUS Is also known as arthrocutaneouveal granulomatosis|granulomatous inflammatory arthritis, dermatitis, and uveitis, familial|eos|jabs syndrome|granulomatosis, familial juvenile systemic|acug|sarcoidosis, early-onset|granulomatosis, familial, blau type

Related symptoms:

  • Hearing impairment
  • Failure to thrive
  • Cataract
  • Flexion contracture
  • Visual impairment


SOURCES: OMIM MENDELIAN

More info about BLAU SYNDROME; BLAUS

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 FAMILIAL MEDITERRANEAN FEVER


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

Low match SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION; SPENCDI


Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) is an immunoosseous dysplasia combining the typical metaphyseal and vertebral bone lesions of spondyloenchondrodysplasia (SPENCD) with immune dysfunction and neurologic involvement. The skeletal dysplasia is characterized by radiolucent and irregular spondylar and metaphyseal lesions that represent islands of chondroid tissue within bone. The vertebral bodies show dorsally accentuated platyspondyly with disturbance of ossification. Clinical abnormalities such as short stature, rhizomelic micromelia, increased lumbar lordosis, barrel chest, facial anomalies, and clumsy movements may be present (Menger et al., 1989). Central nervous system involvement includes spasticity, mental retardation, and cerebral calcifications, and immune dysregulation ranges from autoimmunity to immunodeficiency. Neurologic and autoimmune manifestations have been observed in different combinations within a single family, suggesting that this disorder may be defined by specific radiographic features but has remarkably pleiotropic manifestations (Renella et al., 2006). Briggs et al. (2016) also noted variability in skeletal, neurologic, and immune phenotypes, which was sometimes marked between members of the same family. Classification of the EnchondromatosesIn their classification of the enchondromatoses, Spranger et al. (1978) called Ollier disease and Maffucci syndrome types I and II enchondromatosis, respectively; metachondromatosis (OMIM ), type III; and spondyloenchondrodysplasia (SPENCD), also called spondyloenchondromatosis, type IV; enchondromatosis with irregular vertebral lesions, type V; and generalized enchondromatosis, type VI. Halal and Azouz (1991) added 3 tentative categories to the 6 in the classification of Spranger et al. (1978).Pansuriya et al. (2010) suggested a new classification of enchondromatosis (multiple enchondromas).

SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION; SPENCDI Is also known as spencd|combined immunodeficiency with autoimmunity and spondylometaphyseal dysplasia|roifman immunoskeletal syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Spasticity
  • Low-set ears


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION; SPENCDI

Low match X-LINKED AGAMMAGLOBULINEMIA


X-linked agammaglobulinemia (XLA) is a clinically variable form of isolated agammaglobulinemia, an inherited immunodeficiency disorder (see this term), and is characterized in affected males by recurrent bacterial infections during infancy.

X-LINKED AGAMMAGLOBULINEMIA Is also known as imd1|bruton-type agammaglobulinemia|bruton type agammaglobulinemia|agammaglobulinemia, x-linked, type 1|immunodeficiency 1|btk-deficiency|agmx1

Related symptoms:

  • Short stature
  • Hearing impairment
  • Ataxia
  • Neoplasm
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED AGAMMAGLOBULINEMIA

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

Symptoms // Phenotype % cases
Arthritis Very Common - Between 80% and 100% cases
Skin rash Common - Between 50% and 80% cases
Systemic lupus erythematosus Common - Between 50% and 80% cases
Juvenile rheumatoid arthritis Uncommon - Between 30% and 50% cases
Anemia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Vasculitis Arthralgia Recurrent infections Thrombocytopenia Fever Lymphadenopathy Purpura Immunodeficiency Pericarditis Diarrhea Antinuclear antibody positivity Serositis Splenomegaly Inflammatory abnormality of the skin Short stature

Rare Symptoms - Less than 30% cases


Encephalitis Hypertension Fatigue Seizures Alopecia Hemolytic anemia Nephritis Glomerulonephritis Autoimmune hemolytic anemia Recurrent bacterial infections Malabsorption Autoimmune thrombocytopenia Hearing impairment Failure to thrive Synovitis Hepatitis Skin ulcer Pleuritis Increased antibody level in blood Anterior uveitis Abnormal lung morphology Renal insufficiency Meningitis Visual impairment Uveitis Elevated erythrocyte sedimentation rate Leukemia Pneumonia Myalgia Hepatosplenomegaly Abdominal pain Neoplasm Joint swelling Cellular immunodeficiency Hepatomegaly Metaphyseal irregularity Severe short stature Gastrointestinal infarctions Renal amyloidosis Azotemia Spastic diplegia Basal ganglia calcification Combined immunodeficiency Restrictive ventilatory defect Hypermelanotic macule Scleroderma Rhizomelia Recurrent sinusitis Erysipelas Congenital hypoplastic anemia Stiff neck Decreased circulating aldosterone level Recurrent meningitis Spastic tetraplegia Orchitis Respiratory tract infection Recurrent respiratory infections Hypothyroidism Intellectual disability, mild Kyphoscoliosis Skeletal dysplasia Abnormality of the skeletal system Low-set ears Hyperlordosis Platyspondyly Recurrent otitis media Abnormality of the cerebral white matter Micromelia Tetraplegia Spasticity Cerebral calcification Lumbar hyperlordosis Global developmental delay Intellectual disability Vitiligo Dilatation Irregular vertebral endplates Agammaglobulinemia Lymphopenia Recurrent pneumonia Hypocalcemia Conjunctivitis Hypopigmented skin patches Recurrent skin infections Chronic otitis media Osteomyelitis Cellulitis Bronchitis Glossoptosis Cor pulmonale Telangiectasia Myelopathy Abnormality of the lymphatic system Thymoma Pyoderma Recurrent cutaneous abscess formation Septic arthritis Abnormality of the tonsils Epididymitis Prostatitis Lymph node hypoplasia Enteroviral dermatomyositis syndrome Sinusitis Chronic diarrhea Narrow nose Sensorineural hearing impairment Barrel-shaped chest Immune dysregulation Spondylometaphyseal dysplasia Tubulointerstitial fibrosis Decrease in T cell count Madelung deformity Progressive spastic quadriplegia Metaphyseal sclerosis Arthralgia/arthritis Hypopigmented skin patches on arms Ataxia Delayed speech and language development Recurrent urinary tract infections Myopathy Anemia of inadequate production Depressivity Encephalopathy Rod-cone dystrophy Dementia Weight loss Retinopathy Neutropenia Sepsis Decreased antibody level in blood Otitis media Peritonitis Erythema Oral leukoplakia Abnormality of the ear Peripheral neuropathy Edema Blindness Glaucoma Camptodactyly Camptodactyly of finger Papule Eczema Subcutaneous nodule Hypercalcemia Abnormal joint morphology Cataract Optic neuropathy Abnormal cranial nerve morphology Macular edema Cystoid macular edema Abducens palsy Flexion contracture of toe Granulomatosis Band keratopathy Posterior uveitis Iridocyclitis Flexion contracture Vasculitis in the skin Large vessel vasculitis Lymphoproliferative disorder Psoriasiform dermatitis Nail pits Colitis Ulcerative colitis Neurodegeneration Lymphoma Hyperthyroidism Hodgkin lymphoma Acute leukemia B-cell lymphoma Chronic lymphatic leukemia Discoid lupus rash Lymphocytosis Lung adenocarcinoma Non-Hodgkin lymphoma Visual loss Falls Pleural effusion Elevated C-reactive protein level Fatigable weakness Membranoproliferative glomerulonephritis Angioedema Iritis Panuveitis Acute hepatic failure Nephrocalcinosis Nausea and vomiting Stage 5 chronic kidney disease Nausea Nephropathy Ascites Chest pain Asthma Nephrotic syndrome Myocardial infarction Osteoarthritis Pancreatitis Proteinuria Chronic kidney disease Intestinal obstruction Inflammation of the large intestine Leukocytosis Hyperkalemia Amyloidosis Episodic fever Increased serum ferritin Gout Edema of the lower limbs Abnormality of the kidney Acidosis Tendonitis Abnormality of the thyroid gland Intermittent generalized erythematous papular rash Nongranulomatous uveitis Cognitive impairment Midface retrusion Abnormality of the skin Memory impairment Psychosis Cutaneous photosensitivity Leukopenia Abnormality of coagulation Thyroiditis Constipation Aseptic necrosis Epiphyseal stippling Hashimoto thyroiditis Gangrene Raynaud phenomenon Antiphospholipid antibody positivity Complement deficiency Malar rash Pain Headache Arrhythmia Enteroviral hepatitis



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