Autoimmunity, and Nephrotic syndrome

Diseases related with Autoimmunity and Nephrotic syndrome

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


Top matches:

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 COMPLEMENT COMPONENT 4B DEFICIENCY; C4BD


COMPLEMENT COMPONENT 4B DEFICIENCY; C4BD Is also known as c4b deficiency

Related symptoms:

  • Hypertension
  • Thrombocytopenia
  • Diabetes mellitus
  • Hepatitis
  • Nephrotic syndrome


SOURCES: OMIM MENDELIAN

More info about COMPLEMENT COMPONENT 4B DEFICIENCY; C4BD

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

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Other less relevant matches:

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 AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA; ALPS2A


AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA; ALPS2A Is also known as alps2|autoimmune lymphoproliferative syndrome, type ii

Related symptoms:

  • Anemia
  • Hepatomegaly
  • Fever
  • Splenomegaly
  • Thrombocytopenia


SOURCES: OMIM MESH MENDELIAN

More info about AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA; ALPS2A

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 COMBINED IMMUNODEFICIENCY DUE TO STIM1 DEFICIENCY


Combined immunodeficiency (CID) due to STIM1 deficiency is a form of CID due to Calcium release activated Ca2+(CRAC) channel dysfunction (see this term) characterized by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia.

COMBINED IMMUNODEFICIENCY DUE TO STIM1 DEFICIENCY Is also known as cid due to stim1 deficiency|immune dysfunction with t-cell inactivation due to calcium entry defect 2|stim1 deficiency

Related symptoms:

  • Generalized hypotonia
  • Muscular hypotonia
  • Anemia
  • Myopathy
  • Diarrhea


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO STIM1 DEFICIENCY

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 ACQUIRED PARTIAL LIPODYSTROPHY


Acquired partial lipodystrophy, or Barraquer-Simons syndrome, is characterised by the association of lipoatrophy of the upper part of the body and lipohypertrophy of the thighs.

ACQUIRED PARTIAL LIPODYSTROPHY Is also known as apld, susceptibility to|progressive cephalothoracic lipodystrophy|barraquer-simons syndrome|lipodystrophy, cephalothoracic type|lipodystrophy, partial, progressive

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Hypertension
  • Myopathy


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ACQUIRED PARTIAL LIPODYSTROPHY

Top 5 symptoms//phenotypes associated to Autoimmunity and Nephrotic syndrome

Symptoms // Phenotype % cases
Recurrent infections Common - Between 50% and 80% cases
Thrombocytopenia Common - Between 50% and 80% cases
Systemic lupus erythematosus Uncommon - Between 30% and 50% cases
Glomerulonephritis Uncommon - Between 30% and 50% cases
Nephritis Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Diabetes mellitus Anemia Lymphadenopathy Hemolytic anemia Proteinuria Immunodeficiency Skin rash Hepatosplenomegaly Membranoproliferative glomerulonephritis Autoimmune hemolytic anemia Recurrent bacterial infections Hematuria Vasculitis Purpura Meningitis Hypertension Hepatitis

Rare Symptoms - Less than 30% cases


Lipodystrophy Recurrent lower respiratory tract infections Arthralgia Diarrhea Eosinophilia Pneumonia Sepsis Myopathy Eczema Lymphocytosis Hypothyroidism Hepatomegaly Increased antibody level in blood Nephropathy Splenomegaly Immune dysregulation Erythema Renal insufficiency Chronic active hepatitis Autoimmune thrombocytopenia Sinusitis Complement deficiency Arthritis Microscopic hematuria Decreased serum complement C3 Thyroiditis Elevated erythrocyte sedimentation rate Malnutrition Abnormality of dental enamel Abnormality of the coagulation cascade Recurrent pneumonia Hypohidrosis Secretory diarrhea Hypoplasia of dental enamel Nail dysplasia Asthma Muscular hypotonia Generalized hypotonia Intractable diarrhea Pancreatic hypoplasia Ileus Villous atrophy Anhidrosis Ketoacidosis Abnormality of the thyroid gland Sarcoma Membranous nephropathy Episodic fever Hypertriglyceridemia Progressive loss of facial adipose tissue Loss of truncal subcutaneous adipose tissue Progeroid facial appearance Abnormality of lipid metabolism Glomerulopathy Lipoatrophy Premature ovarian insufficiency Polycystic ovaries Generalized hirsutism Insulin resistance Hypertrichosis Hepatic steatosis Hypoplasia of the iris Hirsutism Alopecia Hearing impairment Seizures Intellectual disability Erythroderma Generalized lymphadenopathy Lymphoproliferative disorder Recurrent sinusitis Shock Intermittent diarrhea Amelogenesis imperfecta Hyperglycemia Autoimmune neutropenia Abnormal intestine morphology Chronic kidney disease Fever Depletion of components of the alternative complement pathway Glomerular subendothelial electron-dense deposits Decreased serum complement factor H Thickening of the glomerular basement membrane Mesangial hypercellularity Macroscopic hematuria IgA deposition in the glomerulus Hemolytic-uremic syndrome Drusen Psychosis Urticaria Stage 5 chronic kidney disease Abnormality of the kidney Cutaneous photosensitivity Tonsillitis Otitis media Respiratory tract infection Decreased serum complement C4b Minimal change glomerulonephritis B lymphocytopenia Colitis Lymphopenia Gastrointestinal hemorrhage Petechiae Type I diabetes mellitus Platelet antibody positive Cardiac arrest Inflammatory abnormality of the skin Intrauterine growth retardation Failure to thrive Growth delay Increased B cell count Smooth muscle antibody positivity Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells Increased proportion of HLA DR+ T cells Decreased lymphocyte apoptosis Antineutrophil antibody positivity Rheumatoid factor positive Iron deficiency anemia Coombs-positive hemolytic anemia Reduced delayed hypersensitivity Increased IgG level Increased IgM level Malar rash Follicular hyperplasia Antiphospholipid antibody positivity Increased IgA level Chronic noninfectious lymphadenopathy Antinuclear antibody positivity Reticulocytosis Loss of subcutaneous adipose tissue from upper limbs



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