Autoimmunity, and Abnormality of the kidney

Diseases related with Autoimmunity and Abnormality of the kidney

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


Top matches:

Low match TN POLYAGGLUTINATION SYNDROME; TNPS


Polyagglutination refers to red blood cells that agglutinate upon exposure to almost all human sera, but not to autologous serum or the sera of newborns. The condition becomes apparent during blood typing and cross-matching in the laboratory (summary by Beck, 2000).Tn polyagglutination syndrome is an acquired clonal disorder characterized by the polyagglutination of red blood cells by naturally occurring anti-Tn antibodies following exposure of the Tn antigen on the surface of erythrocytes. Only a subset of red cells express the antigen, which can also be expressed on platelets and leukocytes. This condition may occur in healthy individuals who manifest asymptomatic anemia, leukopenia, or thrombocytopenia; however, there is also an association between the Tn antigen and leukemia or myelodysplastic disorders. The Tn antigen is an incompletely glycosylated membrane glycoprotein with an exposed N-acetylgalactosamine residue. The Tn antigen results from inactivation of C1GALT1C1, which encodes a chaperone required for the correct functioning of T-synthetase (C1GALT1 ), an enzyme essential for the correct biosynthesis of O-glycans. Absence of active T-synthetase results in exposure of GalNAc residues, with a proportion of these residues becoming sialylated and forming a sialyl-Tn antigen (summary by Vainchenker et al., 1985 and Crew et al., 2008).

TN POLYAGGLUTINATION SYNDROME; TNPS Is also known as galactosyltransferase deficiency

Related symptoms:

  • Anemia
  • Thrombocytopenia
  • Autoimmunity
  • Leukemia
  • Hemolytic anemia


SOURCES: MESH OMIM MENDELIAN

More info about TN POLYAGGLUTINATION SYNDROME; TNPS

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

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Other less relevant matches:

Low match DIABETES MELLITUS, KETOSIS-PRONE; KPD


In addition to classic type 1 (see {222100}) and type 2 (see {125853}) diabetes mellitus, atypical presentations are seen, particularly in populations of African ancestry. Ketosis-prone diabetes, the most common atypical form, is characterized by an acute initial presentation with severe hyperglycemia and ketosis, as seen in classic type 1 diabetes, but after initiation of insulin therapy, prolonged remission is often possible with cessation of insulin therapy and maintenance of appropriate metabolic control. Metabolic studies show a markedly blunted insulin secretory response to glucose, partially reversible with the improvement of blood glucose control. Variable levels of insulin resistance are observed, especially in obese patients. Pancreatic beta-cell autoimmunity is a rare finding, and association with type 1 susceptibility HLA alleles is variable (Sobngwi et al., 2002).

Related symptoms:

  • Diabetes mellitus
  • Weight loss
  • Autoimmunity
  • Type II diabetes mellitus
  • Insulin resistance


SOURCES: ORPHANET OMIM MENDELIAN

More info about DIABETES MELLITUS, KETOSIS-PRONE; KPD

Low match DIABETES MELLITUS, INSULIN-DEPENDENT; IDDM


The type of diabetes mellitus called IDDM is a disorder of glucose homeostasis that is characterized by susceptibility to ketoacidosis in the absence of insulin therapy. It is a genetically heterogeneous autoimmune disease affecting about 0.3% of Caucasian populations (Todd, 1990). Genetic studies of IDDM have focused on the identification of loci associated with increased susceptibility to this multifactorial phenotype.The classical phenotype of diabetes mellitus is polydipsia, polyphagia, and polyuria which result from hyperglycemia-induced osmotic diuresis and secondary thirst. These derangements result in long-term complications that affect the eyes, kidneys, nerves, and blood vessels.

DIABETES MELLITUS, INSULIN-DEPENDENT; IDDM Is also known as diabetes mellitus, type i|jod|juvenile-onset diabetes

Related symptoms:

  • Hypertension
  • Diabetes mellitus
  • Autoimmunity
  • Nephropathy
  • Type II diabetes mellitus


SOURCES: OMIM MENDELIAN

More info about DIABETES MELLITUS, INSULIN-DEPENDENT; IDDM

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

Low match SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 6; SLEB6


Related symptoms:

  • Arthritis
  • Abnormality of the nervous system
  • Cutaneous photosensitivity
  • Spontaneous abortion
  • Systemic lupus erythematosus


SOURCES: OMIM MENDELIAN

More info about SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 6; SLEB6

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

Top 5 symptoms//phenotypes associated to Autoimmunity and Abnormality of the kidney

Symptoms // Phenotype % cases
Arthritis Uncommon - Between 30% and 50% cases
Systemic lupus erythematosus Uncommon - Between 30% and 50% cases
Glomerulonephritis Uncommon - Between 30% and 50% cases
Arthralgia Rare - less than 30% cases
Diabetes mellitus Rare - less than 30% cases
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Other less frequent symptoms

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

Rare Symptoms - Less than 30% cases


Beta-cell dysfunction Ketoacidosis Ketosis Polyuria Hyperglycemia Type I diabetes mellitus Insulin resistance Type II diabetes mellitus Polydipsia Nephritis Leukemia Leukopenia Abnormal lung morphology B lymphocytopenia Recurrent bronchitis Complement deficiency Discoid lupus rash Recurrent infections Hypothyroidism Proteinuria Nephrotic syndrome Lymphopenia Colitis Pain Minimal change glomerulonephritis Tachypnea Respiratory distress Pulmonary hemorrhage Aseptic necrosis Abnormal joint morphology Malar rash Pathologic fracture Interstitial pulmonary abnormality Elevated erythrocyte sedimentation rate Cough Anemia Abnormality of complement system Pleuritis Hypertension Hemolytic anemia Abnormal erythrocyte morphology Abnormality of metabolism/homeostasis Pancytopenia Bone marrow hypocellularity Pancreatitis Abnormality of blood and blood-forming tissues Acute lymphoblastic leukemia Weight loss Diabetic ketoacidosis Nephropathy Abnormal renal physiology Polyphagia Decreased level of 1,5 anhydroglucitol in serum Hepatitis Hashimoto thyroiditis Chondrosarcoma Thrombocytopenia Abnormality of the nervous system Cutaneous photosensitivity Spontaneous abortion Pericarditis Antinuclear antibody positivity Crescentic glomerulonephritis



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