Autoimmunity, and Nephritis

Diseases related with Autoimmunity and Nephritis

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


Top matches:

Low match AUTOSOMAL SYSTEMIC LUPUS ERYTHEMATOSUS


Autosomal systemic lupus erythematosus is a rare, genetic, multisystemic, chronic autoimmune disease characterized by the presence of systemic lupus erythematosus symptoms in two or more members of a single family. Patients present a wide spectrum of clinical manifestations, including cutaneous (malar rash, photosensitivity), ocular (keratoconjunctivitis sicca, retinopathy), gastrointestinal (oral ulceration, abdominal pain), cardiac (atherosclerosis, chest pain), pulmonary (serositis, pleurisy), musculoskeletal (arthralgia, myalgia), renal (nephritis, hematuria), obstetrical (increased spontaneous abortions, neonatal lupus), constitutional (fatigue, loss of appetite) and neuropsychiatric (mood and cognitive disorders) involvement, among others.

AUTOSOMAL SYSTEMIC LUPUS ERYTHEMATOSUS Is also known as autosomal sle|familial systemic lupus erythematosus|familial sle

Related symptoms:

  • Systemic lupus erythematosus
  • Nephritis


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL SYSTEMIC LUPUS ERYTHEMATOSUS

Low match THIOPURINES, POOR METABOLISM OF, 1; THPM1


THPM1 is an autosomal recessive trait associated with severe hematopoietic toxicity when patients are treated with standard doses of the antineoplastic agents 6-mercaptopurine (6MP) or 6-thioguanine (6TG), or the immunosuppressant azathioprine (AZA) (Lennard et al., 1989).The thiopurines are prodrugs that require extensive metabolism in order to exert their cytotoxic action. Azathioprine is nonenzymatically reduced to 6MP. 6MP and 6TG are activated by HPRT (OMIM ) and subsequent steps to form cytotoxic thioguanine nucleotides (TGNs) which are incorporated into DNA and/or RNA, causing DNA-protein cross-links, single-strand breaks, interstrand cross-links, and sister chromatid exchange. TPMT functions mainly to inactivate these drugs; thus, a deficiency of TPMT results in increased conversion to toxic TGNs, which can result in myelosuppression (Coulthard and Hogarth, 2005). However, 6MP is unique in that it can also be converted via TPMT into a methyl-thioinosine 5-prime monophosphate (MeTIMP), a metabolite that inhibits de novo purine synthesis and likely contributes to the cytotoxic effect of 6MP (Vogt et al., 1993; Krynetski et al., 1995; Coulthard and Hogarth, 2005). Genetic Heterogeneity of Poor Thiopurine MetabolismSee also THPM2 (OMIM ), caused by variation in the NUDT15 gene (OMIM ) on chromosome 13q14.

THIOPURINES, POOR METABOLISM OF, 1; THPM1 Is also known as thiopurine s-methyltransferase deficiency|tpmt deficiency|tpmtd

Related symptoms:

  • Abnormality of metabolism/homeostasis
  • Autoimmunity
  • Leukemia
  • Pancytopenia
  • Bone marrow hypocellularity


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about THIOPURINES, POOR METABOLISM OF, 1; THPM1

Low match COMPLEMENT COMPONENT C1S DEFICIENCY; C1SD


COMPLEMENT COMPONENT C1S DEFICIENCY; C1SD Is also known as c1s deficiency

Related symptoms:

  • Hepatitis
  • Systemic lupus erythematosus
  • Glomerulonephritis
  • Hashimoto thyroiditis
  • Chondrosarcoma


SOURCES: MESH OMIM MENDELIAN

More info about COMPLEMENT COMPONENT C1S DEFICIENCY; C1SD

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Other less relevant matches:

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

Low match AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2; ADMIO2


Related symptoms:

  • Recurrent infections
  • Hypothyroidism
  • Proteinuria
  • Autoimmunity
  • Nephrotic syndrome


SOURCES: OMIM MENDELIAN

More info about AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2; ADMIO2

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 3 DEFICIENCY


Complement component 3 deficiency is a rare, genetic, primary immunodeficiency characterized by susceptibility to infection (mainly by gram negative bacteria) due to extremely low C3 plasma levels. Patients typically present recurrent episodes of sinusitis, tonsillitis, and/or otitis, as well as upper and lower respiratory tract infections (including pneumonia) and skin infections, such as erythema multiforme. Autoimmune disease resembling systemic lupus erythematosus and mesangiocapillary or membranoproliferative glomerulonephritis may develop, resulting in renal failure.

COMPLEMENT COMPONENT 3 DEFICIENCY Is also known as c3 deficiency, autosomal recessive|c3 deficiency

Related symptoms:

  • Renal insufficiency
  • Recurrent infections
  • Pneumonia
  • Proteinuria
  • Respiratory tract infection


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about COMPLEMENT COMPONENT 3 DEFICIENCY

Low match COMPLEMENT COMPONENT 4A DEFICIENCY; C4AD


COMPLEMENT COMPONENT 4A DEFICIENCY; C4AD Is also known as c4a deficiency

Related symptoms:

  • Hypertension
  • Diabetes mellitus
  • Hepatitis
  • Nephrotic syndrome
  • Cutaneous photosensitivity


SOURCES: MESH OMIM MENDELIAN

More info about COMPLEMENT COMPONENT 4A DEFICIENCY; C4AD

Low match IMMUNODEFICIENCY WITH FACTOR H ANOMALY


Immunodeficiency with factor H anomaly is a rare, genetic, primary immunodeficiency disease characterized by increased susceptibility to recurrent, usually severe, infections (particularly by Neisseria meningitidis, Escherichia coli, and Haemophilus influenzae), renal impairment and/or autoimmune diseases, typically manifesting with otitis media, bronchitis, meningitis, and/or septicemia, as well as hematuria/proteinuria, asthma, nephrotic syndrome, hemolytic uremic syndrome, glomerulonephritis, and/or systemic lupus erythematosus. Laboratory serum analysis reveals, in addition to factor H deficiency, decreased complement factor B, properin, complement C3 and terminal complement components.

IMMUNODEFICIENCY WITH FACTOR H ANOMALY Is also known as factor h deficiency|cfh deficiency

Related symptoms:

  • Renal insufficiency
  • Thrombocytopenia
  • Proteinuria
  • Abnormality of the kidney
  • Autoimmunity


SOURCES: ORPHANET OMIM MENDELIAN

More info about IMMUNODEFICIENCY WITH FACTOR H ANOMALY

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

Top 5 symptoms//phenotypes associated to Autoimmunity and Nephritis

Symptoms // Phenotype % cases
Glomerulonephritis Common - Between 50% and 80% cases
Systemic lupus erythematosus Common - Between 50% and 80% cases
Nephrotic syndrome Uncommon - Between 30% and 50% cases
Arthralgia Uncommon - Between 30% and 50% cases
Vasculitis Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Membranoproliferative glomerulonephritis Proteinuria Recurrent infections Arthritis Renal insufficiency

Rare Symptoms - Less than 30% cases


Hepatitis Leukemia Hematuria Skin rash Hypertension Meningitis Purpura Abnormality of the kidney Discoid lupus rash Complement deficiency Recurrent bacterial infections Decreased serum complement factor H Thrombocytopenia Decreased serum complement C3 Tonsillitis Angioedema Antinuclear antibody positivity Fatigable weakness Diabetes mellitus Cutaneous photosensitivity Rheumatoid arthritis Abnormality of metabolism/homeostasis Immunodeficiency Chronic active hepatitis Stage 5 chronic kidney disease Thickening of the glomerular basement membrane Nephropathy Depletion of components of the alternative complement pathway Psychosis Chronic kidney disease Lipodystrophy Glomerular subendothelial electron-dense deposits Recurrent lower respiratory tract infections Drusen Hemolytic-uremic syndrome IgA deposition in the glomerulus Macroscopic hematuria Mesangial hypercellularity Sepsis Otitis media Microscopic hematuria Respiratory distress Chondrosarcoma Abnormality of complement system Acute lymphoblastic leukemia Abnormality of blood and blood-forming tissues Recurrent bronchitis Leukopenia Hypothyroidism Pancreatitis Bone marrow hypocellularity Lymphopenia Colitis B lymphocytopenia Minimal change glomerulonephritis Pain Cough Sinusitis Abnormal lung morphology Tachypnea Elevated erythrocyte sedimentation rate Interstitial pulmonary abnormality Pathologic fracture Abnormal joint morphology Aseptic necrosis Pulmonary hemorrhage Crescentic glomerulonephritis Pancytopenia Pneumonia Respiratory tract infection Erythema Hashimoto thyroiditis Vasculitis in the skin



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Intrauterine growth retardation and Hepatocellular carcinoma, related diseases and genetic alterations

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