Arthritis, and Glomerulonephritis

Diseases related with Arthritis and Glomerulonephritis

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


Top 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

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Other less relevant matches:

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

Low match BARTTER SYNDROME, TYPE 3; BARTS3


Bartter syndrome refers to a group of disorders that are unified by autosomal recessive transmission of impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and hypercalciuria. Clinical disease results from defective renal reabsorption of sodium chloride in the thick ascending limb (TAL) of the Henle loop, where 30% of filtered salt is normally reabsorbed (Simon et al., 1997).Patients with antenatal (or neonatal) forms of Bartter syndrome (e.g., BARTS1, {601678}) typically present with premature birth associated with polyhydramnios and low birth weight and may develop life-threatening dehydration in the neonatal period. Patients with classic Bartter syndrome present later in life and may be sporadically asymptomatic or mildly symptomatic (summary by Simon et al., 1996 and Fremont and Chan, 2012). Genetic Heterogeneity of Bartter SyndromeAntenatal Bartter syndrome type 1 (OMIM ) is caused by loss-of-function mutations in the butmetanide-sensitive Na-K-2Cl cotransporter NKCC2 (SLC12A1 ). Antenatal Bartter syndrome type 2 (OMIM ) is caused by loss-of-function mutations in the ATP-sensitive potassium channel ROMK (KCNJ1 ). One form of neonatal Bartter syndrome with sensorineural deafness, Bartter syndrome type 4A (OMIM ), is caused by mutation in the BSND gene (OMIM ). Another form of neonatal Bartter syndrome with sensorineural deafness, Bartter syndrome type 4B (OMIM ), is caused by simultaneous mutation in both the CLCNKA (602024) and CLCNKB (602023) genes.Also see autosomal dominant hypocalcemia-1 with Bartter syndrome (OMIM ), which is sometimes referred to as Bartter syndrome type 5 (Fremont and Chan, 2012), caused by mutation in the CASR gene (OMIM ).See Gitelman syndrome (GTLMN ), which is often referred to as a mild variant of Bartter syndrome, caused by mutation in the thiazide-sensitive sodium-chloride cotransporter SLC12A3 (OMIM ).

BARTTER SYNDROME, TYPE 3; BARTS3 Is also known as bartter syndrome, classic

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Growth delay
  • Sensorineural hearing impairment


SOURCES: OMIM MENDELIAN

More info about BARTTER SYNDROME, TYPE 3; BARTS3

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 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

Top 5 symptoms//phenotypes associated to Arthritis and Glomerulonephritis

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

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

Uncommon Symptoms - Between 30% and 50% cases


Systemic lupus erythematosus Vasculitis Recurrent infections Hemolytic anemia Sinusitis Anemia Thrombocytopenia Rheumatoid arthritis Skin rash Immunodeficiency Hypertension Abnormality of the kidney Nephropathy

Rare Symptoms - Less than 30% cases


Splenomegaly Recurrent otitis media Stage 5 chronic kidney disease Meningitis Chronic kidney disease Renal salt wasting Recurrent sinusitis Chest pain Increased antibody level in blood Complement deficiency Fatigue Short stature Generalized lymphadenopathy Lymphadenopathy Autoimmune thrombocytopenia Thyroiditis Sepsis Otitis media Pain Renal cyst Respiratory tract infection Membranoproliferative glomerulonephritis Tubulointerstitial nephritis Antinuclear antibody positivity Gout Elevated erythrocyte sedimentation rate Cough Hyperuricemia Discoid lupus rash Leukemia Aseptic necrosis Fever Pneumonia Recurrent respiratory infections Proteinuria Lymphopenia Pancytopenia Eczema Epistaxis Chronic diarrhea Urticaria Skin ulcer Conjunctivitis Recurrent upper respiratory tract infections Sarcoma Intracranial hemorrhage Glomerulosclerosis Chronic otitis media Inflammation of the large intestine Hyperostosis Keratitis Focal segmental glomerulosclerosis Hyperechogenic kidneys Neutropenia Specific learning disability Abnormality of prostaglandin metabolism Abnormal choroid morphology Azotemia Increased urinary potassium Renal potassium wasting Hyperactive renin-angiotensin system Hyperchloriduria Abnormal sclera morphology Secondary hyperaldosteronism Impaired reabsorption of chloride Neoplasm Lymphoma Peripheral neuropathy Diarrhea Arrhythmia Dyspnea Bruising susceptibility Multiple glomerular cysts Petechiae Abnormal bleeding Sudden cardiac death Combined immunodeficiency Gingival bleeding Prolonged bleeding time Reduced delayed hypersensitivity Spontaneous hematomas Bloody diarrhea Abnormal eosinophil morphology Internal hemorrhage Abnormal platelet function Decreased mean platelet volume Abnormal platelet morphology Congenital thrombocytopenia Large vessel vasculitis Hypokalemic metabolic alkalosis Small vessel vasculitis Recurrent intrapulmonary hemorrhage Chronic leukemia Absent microvilli on the surface of peripheral blood lymphocytes Abnormal delayed hypersensitivity skin test Reduced lymphocyte surface expression of CD43 Nephronophthisis Specific anti-polysaccharide antibody deficiency Oral bleeding Melena Hematemesis Cellulitis Chronic obstructive pulmonary disease Microcytic anemia Glomerulopathy Iron deficiency anemia Hodgkin lymphoma Blepharitis Recurrent lower respiratory tract infections Acute leukemia Hematochezia Tubular atrophy Increased IgA level Hypoplasia of the thymus Elevated serum creatinine IgM deficiency Recurrent ear infections Multiple small medullary renal cysts Increased IgE level Abnormality of the menstrual cycle Interstitial pneumonitis Tubulointerstitial abnormality Hypokalemic alkalosis Premature birth Hypocalciuria Lymphoproliferative disorder Decreased serum complement factor H Decreased serum complement factor I Glomerular deposits Recurrent Haemophilus influenzae infections Hepatomegaly Hepatosplenomegaly Erythema Nephrotic syndrome Shock Immune dysregulation Recurrent meningitis Lymphocytosis Membranous nephropathy Seizures Cognitive impairment Midface retrusion Alopecia Abnormality of the skin Memory impairment Psychosis Decreased serum complement factor B Recurrent meningococcal disease Inflammatory abnormality of the skin Vasculitis in the skin Abnormal lung morphology Tachypnea Interstitial pulmonary abnormality Pathologic fracture Abnormal joint morphology Pulmonary hemorrhage Crescentic glomerulonephritis Fatigable weakness Angioedema Hematuria Tonsillitis Recurrent urinary tract infections Recurrent bacterial infections Recurrent skin infections Pyelonephritis Hemolytic-uremic syndrome Mesangial hypercellularity Septic arthritis Decreased serum complement C3 Recurrent streptococcus pneumoniae infections Cutaneous photosensitivity Leukopenia Respiratory arrest Polyuria Hypotension Dehydration Anorexia Hypocalcemia Nephrocalcinosis Hypokalemia Hypercalciuria Hypercalcemia Rickets Hyperkalemia Respiratory distress Polycythemia Hyperaldosteronism Hyperphosphatemia Hypomagnesemia Alkalosis Chondrocalcinosis Abnormality of the retinal vasculature Metabolic alkalosis Increased circulating renin level Growth hormone deficiency Generalized muscle weakness Abnormality of coagulation Malar rash Abnormality of the thyroid gland Autoimmune hemolytic anemia Pericarditis Epiphyseal stippling Hashimoto thyroiditis Gangrene Raynaud phenomenon Pleuritis Antiphospholipid antibody positivity Serositis Muscle cramps Intellectual disability Hearing impairment Growth delay Sensorineural hearing impairment Edema Vomiting Polyhydramnios Small for gestational age Tachycardia Recurrent bronchitis



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