Autoimmunity, and Nephropathy

Diseases related with Autoimmunity and Nephropathy

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


Top matches:

Medium 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

Medium 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

Medium match IMMUNODEFICIENCY DUE TO A CLASSICAL COMPONENT PATHWAY COMPLEMENT DEFICIENCY


Immunodeficiency due to a classical component pathway complement deficiency is a primary immunodeficiency due to a deficiency in either complement components C1q, C1r, C1s, C2 or C4 characterized by increased susceptibility to bacterial infections, particularly with encapsulated bacteria, and increased risk for autoimmune disease. Most commonly, these include systemic lupus erythematosus (SLE), SLE-like disease, Henoch-Schonlein purpura, polymyositis and arthralgia. Disease severity is variable and dependent on the complement affected.

IMMUNODEFICIENCY DUE TO A CLASSICAL COMPONENT PATHWAY COMPLEMENT DEFICIENCY Is also known as immunodeficiency due to c1, c4, or c2 component complement deficiency|immunodeficiency due to an early component of complement deficiency

Related symptoms:

  • Pain
  • Cataract
  • Fever
  • Renal insufficiency
  • Immunodeficiency


SOURCES: OMIM ORPHANET MENDELIAN

More info about IMMUNODEFICIENCY DUE TO A CLASSICAL COMPONENT PATHWAY COMPLEMENT DEFICIENCY

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Other less relevant matches:

Medium 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

Medium match SNEDDON SYNDROME


Sneddon's syndrome (SS) is a rare non-inflammatory thrombotic vasculopathy characterized by the combination of cerebrovascular disease with livedo racemosa.

SNEDDON SYNDROME Is also known as livedo reticularis-cerebrovascular accident syndrome|livedo racemosa-cerebrovascular accident syndrome|livedo reticularis and cerebrovascular accidents|ehrmann-sneddon syndrome

Related symptoms:

  • Seizures
  • Muscle weakness
  • Pain
  • Visual impairment
  • Motor delay


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SNEDDON SYNDROME

Medium match FAMILIAL MEDITERRANEAN FEVER


Familial Mediterranean fever (FMF) is an autoinflammatory disorder characterized by recurrent short episodes of fever and serositis resulting in pain in the abdomen, chest, joints and muscles.

FAMILIAL MEDITERRANEAN FEVER Is also known as benign paroxysmal peritonitis|familial paroxysmal polyserositis|benign recurrent polyserositis|polyserositis, familial paroxysmal|fmf|periodic disease|familial mediterranean fever, autosomal recessive|polyserositis, recurrent

Related symptoms:

  • Seizures
  • Pain
  • Anemia
  • Hepatomegaly
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL MEDITERRANEAN FEVER

Medium match LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1; CGL1


Congenital generalized lipodystrophy (CGL), or Berardinelli-Seip syndrome, is a rare autosomal recessive disease characterized by a near absence of adipose tissue from birth or early infancy and severe insulin resistance. Other clinical and biologic features include acanthosis nigricans, muscular hypertrophy, hepatomegaly, altered glucose tolerance or diabetes mellitus, and hypertriglyceridemia (Garg, 2004). Genetic Heterogeneity of Congenital Generalized LipodystrophyCongenital generalized lipodystrophy type 2 (OMIM ) is caused by mutation in the BSCL2 gene (OMIM ). Congenital generalized lipodystrophy type 3 (OMIM ) is caused by mutation in the CAV1 gene (OMIM ). Congenital generalized lipodystrophy type 4 (OMIM ) is caused by mutation in the PTRF gene (OMIM ).

LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1; CGL1 Is also known as berardinelli-seip congenital lipodystrophy, type 1|lipodystrophy, berardinelli-seip congenital, type 1|brunzell syndrome, agpat2-related|bscl1

Related symptoms:

  • Intellectual disability
  • Cognitive impairment
  • Hypertension
  • Peripheral neuropathy
  • Hepatomegaly


SOURCES: OMIM MENDELIAN

More info about LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1; CGL1

Medium 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

Medium match GRANULOMATOSIS WITH POLYANGIITIS


Granulomatosis with polyangiitis is a small-vessel necrotizing vasculitis characterised by the association of inflammation of the vessel wall and peri- and extravascular granulomatosis.

GRANULOMATOSIS WITH POLYANGIITIS Is also known as wegener granulomatosis, formerly|gpa|wg, formerly

Related symptoms:

  • Seizures
  • Hearing impairment
  • Sensorineural hearing impairment
  • Pain
  • Visual impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about GRANULOMATOSIS WITH POLYANGIITIS

Medium match SCHIMKE IMMUNO-OSSEOUS DYSPLASIA


Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome.

SCHIMKE IMMUNO-OSSEOUS DYSPLASIA Is also known as immunoosseous dysplasia, schimke type|schimke syndrome|spondyloepiphyseal dysplasia-nephrotic syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SCHIMKE IMMUNO-OSSEOUS DYSPLASIA

Top 5 symptoms//phenotypes associated to Autoimmunity and Nephropathy

Symptoms // Phenotype % cases
Proteinuria Common - Between 50% and 80% cases
Hypertension Common - Between 50% and 80% cases
Glomerulonephritis Common - Between 50% and 80% cases
Renal insufficiency Common - Between 50% and 80% cases
Vasculitis Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Glomerulopathy Seizures Fever Meningitis Nephrotic syndrome Membranoproliferative glomerulonephritis Headache Pain Systemic lupus erythematosus Immunodeficiency Recurrent infections Arthralgia Chronic kidney disease Hematuria Diarrhea Skin rash Anemia Pneumonia Insulin resistance Splenomegaly Peripheral neuropathy Arrhythmia Myalgia Purpura Myocardial infarction Intellectual disability Cardiomyopathy Chest pain Stroke Cerebral ischemia Stage 5 chronic kidney disease Arthritis Abnormality of the kidney Lipodystrophy Thrombocytopenia Diabetes mellitus

Rare Symptoms - Less than 30% cases


Developmental regression Fatigue Neutropenia Inflammation of the large intestine Motor delay Visual impairment Dyspnea Recurrent intrapulmonary hemorrhage Dementia Cough Recurrent respiratory infections Hyperlipidemia Paralysis Nausea and vomiting High pitched voice Abdominal pain Chronic obstructive pulmonary disease Hepatosplenomegaly Angina pectoris Malabsorption Transient ischemic attack Intestinal obstruction Lymphadenopathy Lymphoma Intracranial hemorrhage Hemiplegia Migraine Pancreatitis Rheumatoid arthritis Elevated erythrocyte sedimentation rate Hearing impairment Abnormality of lipid metabolism Nephritis Skin ulcer Conjunctivitis Glomerulosclerosis Macroscopic hematuria IgA deposition in the glomerulus Chronic otitis media Recurrent lower respiratory tract infections Focal segmental glomerulosclerosis Lymphopenia Combined immunodeficiency Sepsis Petechiae Congestive heart failure Polyphagia Pleuritis Cognitive impairment Erythema Hepatomegaly Keratitis Hypertriglyceridemia Hirsutism Microscopic hematuria Hypertrichosis Pericarditis Epistaxis Hepatic steatosis Polycystic ovaries Otitis media Lipoatrophy Sinusitis Wheezing Nasal obstruction Venous thrombosis Restrictive ventilatory defect Elevated C-reactive protein level Inflammatory abnormality of the eye Recurrent corneal erosions Pulmonary infiltrates Gangrene Pleural effusion Stridor Diabetes insipidus Myositis Abnormality of the hypothalamus-pituitary axis Pulmonary fibrosis Hemoptysis Concave nasal ridge Tracheal stenosis Abnormality of the nose Absent microvilli on the surface of peripheral blood lymphocytes Cranial nerve paralysis Bloody diarrhea Reduced delayed hypersensitivity Congenital thrombocytopenia Abnormal platelet morphology Decreased mean platelet volume Abnormal platelet function Internal hemorrhage Abnormal eosinophil morphology Generalized lymphadenopathy Spontaneous hematomas Small vessel vasculitis Melena Hematemesis Increased IgA level Interstitial pneumonitis Abnormality of the menstrual cycle Increased IgE level Recurrent ear infections IgM deficiency Large vessel vasculitis Chronic leukemia Hoarse voice Proptosis Diplopia Subcutaneous nodule Gastrointestinal hemorrhage Sensory neuropathy Paresthesia Papule Retinopathy Hydronephrosis Weight loss Rhinorrhea Visual loss Respiratory distress Respiratory insufficiency Sensorineural hearing impairment Oral bleeding Specific anti-polysaccharide antibody deficiency Reduced lymphocyte surface expression of CD43 Abnormal delayed hypersensitivity skin test Periorbital edema Osteopenia Ocular pain Spondyloepiphyseal dysplasia Ovoid vertebral bodies Thoracic kyphosis Abnormality of the vasculature Protuberant abdomen Multiple cafe-au-lait spots Steatorrhea Hypermelanotic macule Emphysema Melanocytic nevus B-cell lymphoma Epiphyseal dysplasia Encephalitis Coarse hair Reduced bone mineral density Azoospermia Atherosclerosis Opacification of the corneal stroma Bone marrow hypocellularity Disproportionate short-trunk short stature Lymphoproliferative disorder Heterotopia Shallow acetabular fossae Nephrosclerosis Anterior pituitary dysgenesis Premature arteriosclerosis Moyamoya phenomenon Abnormal immunoglobulin level Abnormal T cell morphology Encephalomalacia Increased thyroid-stimulating hormone level Steroid-resistant nephrotic syndrome Villous atrophy Multiple lentigines Mucopolysacchariduria Hypoplasia of the capital femoral epiphysis Arteriosclerosis Right ventricular cardiomyopathy Cellular immunodeficiency Dentinogenesis imperfecta Subvalvular aortic stenosis Precocious atherosclerosis Abnormality of epiphysis morphology Abnormal form of the vertebral bodies Subglottic stenosis Short stature Cerebellar atrophy Short neck Intrauterine growth retardation Myopia Depressed nasal bridge Abnormal facial shape Growth delay Scoliosis Prostatitis Abnormality of the dentition Scleritis Increased inflammatory response Arteritis Episcleritis Abnormal oral cavity morphology Ureteral stenosis Endocarditis Neuritis Granulomatosis Vomiting Kyphosis Abnormal lung morphology Gliosis Fine hair Intellectual disability, profound Lumbar hyperlordosis Microdontia Decreased testicular size Waddling gait Premature birth Brain atrophy Abnormal cerebellum morphology Hypothyroidism Bulbous nose Abnormality of skin pigmentation Astigmatism Platyspondyly Hip dislocation Corneal opacity Scarring Hyperlordosis Thin upper lip vermilion Hypoplasia of the thymus Generalized lipodystrophy Hematochezia Cutis marmorata Arteriovenous malformation Acrocyanosis Thrombocytosis Atrophic scars Visual field defect Aphasia Heart murmur Facial paralysis Personality changes Hemiparesis Memory impairment Chorea Vertigo Confusion Mental deterioration Peripheral arterial stenosis Hemianopia Behavioral abnormality Ascites Episodic fever Amyloidosis Hyperkalemia Leukocytosis Nephrocalcinosis Osteoarthritis Asthma Nausea Arterial stenosis Acidosis Constipation Lupus anticoagulant Antiphospholipid antibody positivity Vascular skin abnormality Amaurosis fugax Thromboembolic stroke Facial palsy Tremor Gout Decreased level of 1,5 anhydroglucitol in serum Thickening of the glomerular basement membrane Mesangial hypercellularity Hemolytic-uremic syndrome Drusen Recurrent bacterial infections Psychosis Beta-cell dysfunction Glomerular subendothelial electron-dense deposits Ketoacidosis Ketosis Polyuria Hyperglycemia Polydipsia Type I diabetes mellitus Type II diabetes mellitus Decreased serum complement factor H Depletion of components of the alternative complement pathway Dysarthria Premature ovarian insufficiency Muscle weakness Loss of subcutaneous adipose tissue from upper limbs Progressive loss of facial adipose tissue Loss of truncal subcutaneous adipose tissue Decreased serum complement C3 Lymphocytosis Progeroid facial appearance Generalized hirsutism Cataract Alopecia Myopathy Decreased serum complement factor I Loss of eyelashes Discoid lupus rash Facial erythema Hepatitis Increased serum ferritin Antinuclear antibody positivity Acute leukemia Reduced intrathoracic adipose tissue Leukemia Respiratory tract infection Neoplasm Generalized muscular appearance from birth Labial hypertrophy Cystic angiomatosis of bone Insulin-resistant diabetes mellitus at puberty Hemolytic anemia Prominent umbilicus Decreased serum leptin Congenital generalized lipodystrophy Decreased fertility in females Acute pancreatitis Glioma Bone cyst Bruising susceptibility Abnormal bleeding Long foot Hyperostosis Blepharitis Gingival bleeding Hodgkin lymphoma Iron deficiency anemia Microcytic anemia Cellulitis Prolonged bleeding time Urticaria Sudden cardiac death Sarcoma Recurrent upper respiratory tract infections Chronic diarrhea Recurrent otitis media Pancytopenia Eczema Specific learning disability Abnormality of the ovary Oligomenorrhea Edema of the lower limbs Erysipelas Intellectual disability, mild Orchitis Recurrent meningitis Serositis Azotemia Renal amyloidosis Gastrointestinal infarctions Congenital hypoplastic anemia Hernia Stiff neck Synovitis Decreased circulating aldosterone level Peritonitis Anemia of inadequate production Oral leukoplakia Acute hepatic failure Dilatation Hyperhidrosis Insulin-resistant diabetes mellitus Tall stature Skeletal muscle hypertrophy Large hands Clitoral hypertrophy Hyperinsulinemia Acanthosis nigricans Accelerated skeletal maturation Nephrolithiasis Abnormality of the genital system Mandibular prognathia Epidermal acanthosis Triangular face Cirrhosis Hypertrophic cardiomyopathy Elevated hepatic transaminase Umbilical hernia Macrotia Lateral displacement of the femoral head



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