Arthritis, and Nephritis

Diseases related with Arthritis and Nephritis

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


Top matches:

Low match MEDULLARY CYSTIC KIDNEY DISEASE 2; MCKD2


Medullary cystic kidney disease (MCKD) is an autosomal dominant form of tubulointerstitial nephropathy characterized by formation of renal cysts at the corticomedullary junction. It is characterized by adult onset of impaired renal function and salt wasting resulting in end-stage renal failure by the sixth decade (Wolf et al., 2004).For a general phenotypic description and a discussion of genetic heterogeneity of medullary cystic kidney disease, see MCKD1 (OMIM ).

MEDULLARY CYSTIC KIDNEY DISEASE 2; MCKD2 Is also known as admckd2|medullary cystic kidney disease 2, autosomal dominant

Related symptoms:

  • Renal insufficiency
  • Arthritis
  • Abnormality of the kidney
  • Stage 5 chronic kidney disease
  • Nephropathy


SOURCES: OMIM MENDELIAN

More info about MEDULLARY CYSTIC KIDNEY DISEASE 2; MCKD2

Low match FAMILIAL JUVENILE HYPERURICEMIC NEPHROPATHY TYPE 1


Familial juvenile hyperuricemic nephropathy type 1 (FJHN1) is a rare kidney disorder characterized by hyperuricemia, progressive nephropathy, and gout occurring at an early age.

FAMILIAL JUVENILE HYPERURICEMIC NEPHROPATHY TYPE 1 Is also known as familial nephropathy with gout|umod-associated fjhn|hnfj|familial juvenile hyperuricemic nephropathy|gouty nephropathy, familial juvenile|familial juvenile gouty nephropathy|fjhn type 1|fjhn|hyperuricemic nephropathy, familial juvenile|umod-associated fam

Related symptoms:

  • Hypertension
  • Renal insufficiency
  • Arthritis
  • Abnormality of the kidney
  • Stage 5 chronic kidney disease


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL JUVENILE HYPERURICEMIC NEPHROPATHY TYPE 1

Low match COMPLEMENT COMPONENT C1R/C1S DEFICIENCY


Lack of production of either functional C1r or C1s protein, due to a genetic defect. Approximately 60% of patients with a C1r/C1s deficiency will develop a severe systemic lupus erythematosus at an early age. Patients also present with frequent sinopulmonary infections often with Streptococcus pneumoniae.

COMPLEMENT COMPONENT C1R/C1S DEFICIENCY Is also known as c1r/c1s deficiency

Related symptoms:

  • Arthralgia
  • Arthritis
  • Autoimmunity
  • Nephritis
  • Recurrent bronchitis


SOURCES: OMIM MENDELIAN

More info about COMPLEMENT COMPONENT C1R/C1S DEFICIENCY

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Other less relevant matches:

Low match AUTOIMMUNE INTERSTITIAL LUNG DISEASE-ARTHRITIS SYNDROME


Autoimmune interstitial lung, joint, and kidney disease is an autosomal dominant systemic autoimmune disorder characterized by interstitial lung disease, inflammatory arthritis, and immune complex-mediated renal disease. Laboratory studies show high-titer autoantibodies. Symptoms appear in the first 2 decades of life, but there is incomplete penetrance (summary by Watkin et al., 2015).

AUTOIMMUNE INTERSTITIAL LUNG DISEASE-ARTHRITIS SYNDROME Is also known as copa syndrome

Related symptoms:

  • Pain
  • Respiratory distress
  • Arthralgia
  • Arthritis
  • Abnormality of the kidney


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOIMMUNE INTERSTITIAL LUNG DISEASE-ARTHRITIS 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 IMMUNODEFICIENCY WITH FACTOR I ANOMALY


Immunodeficiency with factor I anomaly is a rare, genetic, primary immunodeficiency disease characterized by increased susceptibility to recurrent, usually severe, infections (particularly by Neisseria meningitidis, Haemophilus influenzae and Streptococcus pneumonia), typically manifesting as otitis, sinusitis, bronchitis, pneumonia, and/or meningitis. Autoimmune disease (e.g. systemic lupus erythematosus, glomerulonephritis) and atypical hemolytic uremic syndrome may be associated. Laboratory serum analysis reveals, in addition to diminished or undetectable complement factor I, variably decreased complement C3, complement factor B and complement factor H.

IMMUNODEFICIENCY WITH FACTOR I ANOMALY Is also known as complement component 3 inactivator deficiency|c3 inactivator deficiency

Related symptoms:

  • Fever
  • Renal insufficiency
  • Recurrent infections
  • Pneumonia
  • Recurrent respiratory infections


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about IMMUNODEFICIENCY WITH FACTOR I ANOMALY

Low match MEDULLARY SPONGE KIDNEY


Medullary cystic kidney disease (MCKD) is an autosomal dominant form of tubulointerstitial nephropathy characterized by formation of renal cysts at the corticomedullary junction. It is characterized by adult onset of impaired renal function and salt wasting resulting in end-stage renal failure by the sixth decade (Wolf et al., 2004).Although early reports suggested that medullary cystic kidney disease and familial juvenile nephronophthisis (NPHP1 ) represented the same disease entity because of the overlapping phenotype (Chamberlin et al., 1977), they are now considered to be distinct disorders. MCKD has adult onset and shows autosomal dominant inheritance, whereas NPHP1 has juvenile onset and shows autosomal recessive inheritance (Christodoulou et al., 1998). NPHP1 is caused by mutation in the nephrocystin gene (NPHP1 ) on chromosome 2q13. Genetic Heterogeneity of Medullary Cystic Kidney DiseaseSee also MCKD2 (OMIM ), which is caused by mutation in the UMOD gene (OMIM ) on chromosome 16p.

MEDULLARY SPONGE KIDNEY Is also known as cacchi-ricci disease|msk|medullary cystic kidney disease, autosomal dominant|admckd1|polycystic kidneys, medullary type|mckd|precalicial canalicular ectasia

Related symptoms:

  • Pain
  • Anemia
  • Hypertension
  • Renal insufficiency
  • Cerebral cortical atrophy


SOURCES: ORPHANET OMIM MENDELIAN

More info about MEDULLARY SPONGE KIDNEY

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 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 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

Top 5 symptoms//phenotypes associated to Arthritis and Nephritis

Symptoms // Phenotype % cases
Autoimmunity Common - Between 50% and 80% cases
Renal insufficiency Uncommon - Between 30% and 50% cases
Glomerulonephritis Uncommon - Between 30% and 50% cases
Arthralgia Uncommon - Between 30% and 50% cases
Purpura Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Systemic lupus erythematosus Anemia Recurrent infections Abnormality of the kidney Tubulointerstitial nephritis Renal cyst Skin rash Vasculitis Hypertension Stage 5 chronic kidney disease Thyroiditis Immunodeficiency Gout Hyperuricemia Thrombocytopenia Nephropathy Hemolytic anemia

Rare Symptoms - Less than 30% cases


Rheumatoid arthritis Antinuclear antibody positivity Sepsis Proteinuria Immune dysregulation Hematuria Recurrent sinusitis Abnormality of the thyroid gland Sinusitis Autoimmune thrombocytopenia Increased antibody level in blood Chronic kidney disease Autoimmune hemolytic anemia Inflammatory abnormality of the skin Discoid lupus rash Complement deficiency Pain Tubular atrophy Elevated serum creatinine Lymphadenopathy Multiple small medullary renal cysts Tubulointerstitial abnormality Elevated erythrocyte sedimentation rate Renal salt wasting Nephronophthisis Nephrotic syndrome Aseptic necrosis Ketoacidosis Villous atrophy Intrauterine growth retardation Diarrhea Ileus Cardiac arrest Diabetes mellitus Intractable diarrhea Hypothyroidism Malnutrition Abnormality of the coagulation cascade Hyperglycemia Erythroderma Eosinophilia Abnormal intestine morphology Eczema Hepatitis Type I diabetes mellitus Pancreatic hypoplasia Short stature Secretory diarrhea Abnormality of the skin Malar rash Antiphospholipid antibody positivity Pleuritis Raynaud phenomenon Gangrene Hashimoto thyroiditis Epiphyseal stippling Pericarditis Abnormality of coagulation Leukopenia Cutaneous photosensitivity Psychosis Memory impairment Alopecia Hepatomegaly Midface retrusion Fatigue Cognitive impairment Growth delay Seizures Membranous nephropathy Generalized lymphadenopathy Lymphocytosis Lymphoproliferative disorder Shock Erythema Hepatosplenomegaly Splenomegaly Failure to thrive Renal hypoplasia Renal cortical atrophy Membranoproliferative glomerulonephritis Pyelonephritis Recurrent skin infections Recurrent bacterial infections Meningitis Recurrent urinary tract infections Recurrent otitis media Otitis media Respiratory tract infection Recurrent respiratory infections Pneumonia Fever Vasculitis in the skin Angioedema Fatigable weakness Mesangial hypercellularity Leukemia Crescentic glomerulonephritis Pulmonary hemorrhage Abnormal joint morphology Pathologic fracture Interstitial pulmonary abnormality Tachypnea Abnormal lung morphology Cough Respiratory distress Recurrent bronchitis Multiple glomerular cysts Hyperechogenic kidneys Hemolytic-uremic syndrome Septic arthritis Impaired renal uric acid clearance Polydipsia Pyuria Global glomerulosclerosis Tubular basement membrane disintegration Renal corticomedullary cysts Flank pain Renal cortical cysts Distal renal tubular acidosis Decreased glomerular filtration rate Tubulointerstitial fibrosis Thin bony cortex Hemihypertrophy Fair hair Polyuria Glomerulosclerosis Decreased serum complement C3 Polycystic kidney dysplasia Hypercalciuria Nephrolithiasis Hypotension Cerebral cortical atrophy Recurrent Haemophilus influenzae infections Glomerular deposits Decreased serum complement factor I Decreased serum complement factor H Decreased serum complement factor B Recurrent meningitis Recurrent meningococcal disease Tonsillitis Recurrent streptococcus pneumoniae infections Serositis



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