Autoimmunity, and Myalgia

Diseases related with Autoimmunity and Myalgia

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


Top matches:

Low match IMMUNODEFICIENCY DUE TO MASP-2 DEFICIENCY


Immunodeficiency due to MASP-2 deficiency is a rare, genetic immunodeficiency due to a complement cascade protein anomaly characterized by low serum levels of MASP-2 and a variable susceptibility to bacterial infections (e.g. pulmonary tuberculosis, pneumococcal pneumonia, skin abscesses and sepsis), and autoimmune diseases (e.g. inflammatory lung disease, cystic fibrosis, systemic lupus erythematosus). In many cases it remains asymptomatic.

IMMUNODEFICIENCY DUE TO MASP-2 DEFICIENCY Is also known as lectin complement activation pathway, defect in, 2|lcapd2

Related symptoms:

  • Pneumonia
  • Myalgia
  • Erythema
  • Autoimmunity
  • Sepsis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about IMMUNODEFICIENCY DUE TO MASP-2 DEFICIENCY

Low match SYSTEMIC-ONSET JUVENILE IDIOPATHIC ARTHRITIS


Systemic-onset juvenile idiopathic arthritis is marked by the severity of the extra-articular manifestations (fever, cutaneous eruptions) and by an equal sex ratio.

SYSTEMIC-ONSET JUVENILE IDIOPATHIC ARTHRITIS Is also known as systemic-onset jia|systemic juvenile rheumatoid arthritis|still disease|systemic polyarthritis

Related symptoms:

  • Visual impairment
  • Hepatomegaly
  • Fever
  • Splenomegaly
  • Visual loss


SOURCES: ORPHANET OMIM MENDELIAN

More info about SYSTEMIC-ONSET JUVENILE IDIOPATHIC ARTHRITIS

Low match STING-ASSOCIATED VASCULOPATHY WITH ONSET IN INFANCY


STING-associated vasculopathy with onset in infancy (SAVI) is a rare, genetic autoinflammatory disorder, type I interferonopathy due to constitutive STING (STimulator of INterferon Genes) activation, characterized by neonatal or infantile onset systemic inflammation and small vessel vasculopathy resulting in severe skin, pulmonary and joint lesions. Patients present with intermittent low-grade fever, recurrent cough and failure to thrive, in association with progressive interstitial lung disease, polyarthritis and violaceous scaling lesions on fingers, toes, nose, cheeks, and ears (which are exacerbated by cold exposure) that often progress to chronic acral ulceration, necrosis and autoamputation.

STING-ASSOCIATED VASCULOPATHY WITH ONSET IN INFANCY Is also known as savi

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Anemia
  • Fever
  • Recurrent respiratory infections


SOURCES: ORPHANET OMIM MENDELIAN

More info about STING-ASSOCIATED VASCULOPATHY WITH ONSET IN INFANCY

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Other less relevant matches:

Low match YAO SYNDROME; YAOS


Yao syndrome is an autoinflammatory disease characterized by periodic fever, dermatitis, arthritis, and swelling of the distal extremities, as well as gastrointestinal and sicca-like symptoms. The disorder is associated with specific NOD2 variants (Yao and Shen, 2017).

Related symptoms:

  • Pain
  • Fever
  • Diarrhea
  • Abdominal pain
  • Weight loss


SOURCES: OMIM MENDELIAN

More info about YAO SYNDROME; YAOS

Low match REYNOLDS SYNDROME


Reynolds syndrome (RS) is an autoimmune disorder characterized by the association of primary biliary cirrhosis (PBC) with limited cutaneous systemic sclerosis (lcSSc) (see these terms).

REYNOLDS SYNDROME Is also known as primary biliary cirrhosis and systemic scleroderma|primary biliary cirrhosis, scleroderma, raynaud disease, and telangiectasia

Related symptoms:

  • Pain
  • Hepatomegaly
  • Fever
  • Fatigue
  • Dysphagia


SOURCES: OMIM ORPHANET MENDELIAN

More info about REYNOLDS SYNDROME

Low 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

Low match HYPOCOMPLEMENTEMIC URTICARIAL VASCULITIS


Hypocomplementemic urticarial vasculitis (HUV) is an immune complex-mediated small vessel vasculitis characterized by urticaria and hypocomplementemia (low C1q with or without low C3 and C4), and usually associated with circulating anti-C1q autoantibodies. Arthritis, pulmonary disease, ocular inflammation, and glomerulonephritis are common systemic manifestations.

HYPOCOMPLEMENTEMIC URTICARIAL VASCULITIS Is also known as mac duffie syndrome|mac duffie hypocomplementemic urticarial vasculitis|anti-c1q vasculitis|mcduffie hypocomplementemic urticarial vasculitis|mcduffie syndrome

Related symptoms:

  • Seizures
  • Ataxia
  • Sensorineural hearing impairment
  • Pain
  • Peripheral neuropathy


SOURCES: ORPHANET MENDELIAN

More info about HYPOCOMPLEMENTEMIC URTICARIAL VASCULITIS

Low match VASCULITIS DUE TO ADA2 DEFICIENCY


Vasculitis due to ADA2 deficiency is a rare, genetic, systemic and rheumatologic disease due to adenosine deaminase-2 inactivating mutations, combining variable features of autoinflammation, vasculitis, and a mild immunodeficiency. Variable clinical presentation includes chronic or recurrent systemic inflammation with fever, livedo reticularis or racemosa, early-onset ischemic or hemorrhagic strokes, peripheral neuropathy, abdominal pain, hepatosplenomegaly, portal hypertension, cutaneous polyarteritis nodosa, variable cytopenia and immunoglobulin deficiency.

VASCULITIS DUE TO ADA2 DEFICIENCY Is also known as ada2 deficiency|vasculitis due to dada2

Related symptoms:

  • Ataxia
  • Pain
  • Anemia
  • Hypertension
  • Peripheral neuropathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about VASCULITIS DUE TO ADA2 DEFICIENCY

Low 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

Low 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

Top 5 symptoms//phenotypes associated to Autoimmunity and Myalgia

Symptoms // Phenotype % cases
Skin rash Common - Between 50% and 80% cases
Pain Common - Between 50% and 80% cases
Arthritis Common - Between 50% and 80% cases
Elevated erythrocyte sedimentation rate Common - Between 50% and 80% cases
Fever Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Arthralgia

Uncommon Symptoms - Between 30% and 50% cases


Abdominal pain

Common Symptoms - More than 50% cases


Vasculitis

Uncommon Symptoms - Between 30% and 50% cases


Hepatomegaly Splenomegaly Seizures Pericarditis Headache Lymphadenopathy Raynaud phenomenon Antinuclear antibody positivity Chest pain Diarrhea Meningitis Thrombocytosis Papule Stroke Proteinuria Renal insufficiency Purpura Peripheral neuropathy Pleuritis Ascites Hemiplegia Myocardial infarction Hypertension Nephropathy Cutis marmorata Nausea and vomiting Anemia Systemic lupus erythematosus Visual impairment Uveitis Hepatosplenomegaly Pleural effusion Erythema

Rare Symptoms - Less than 30% cases


Episodic fever Xerostomia Elevated hepatic transaminase Ataxia Keratoconjunctivitis sicca Recurrent respiratory infections Lupus anticoagulant Respiratory insufficiency Antiphospholipid antibody positivity Sensorineural hearing impairment Complement deficiency Abnormality of the liver Pruritus Gastrointestinal hemorrhage Skin ulcer Cerebral ischemia Chronic obstructive pulmonary disease Arrhythmia Irregular hyperpigmentation Aphasia Inflammatory abnormality of the eye Hemiparesis Pancreatitis Episcleritis Intestinal obstruction Visual loss Fatigue Dyspnea Myositis Leukocytosis Telangiectasia Cranial nerve paralysis Leukopenia Restrictive ventilatory defect Hemoptysis Conjunctivitis Serositis Elevated C-reactive protein level Pulmonary fibrosis Weight loss Asthma Cough Rheumatoid arthritis Glomerulopathy Paralysis Hematuria Sensory neuropathy Cerebral hemorrhage Ophthalmoplegia Nephrocalcinosis Nausea Osteoarthritis Chronic kidney disease Agitation Paraplegia Ischemic stroke Foot dorsiflexor weakness Nephrotic syndrome Decreased antibody level in blood Malabsorption Stage 5 chronic kidney disease Granulocytopenia Abnormality of the kidney Acidosis Constipation Combined immunodeficiency Central retinal artery occlusion Retinal arterial occlusion Pure red cell aplasia Hypercoagulability Panniculitis Pancytopenia Erythema nodosum Immune dysregulation Pneumonia Hydronephrosis Inflammation of the large intestine Recurrent corneal erosions Glomerulonephritis Chronic otitis media Stridor Diabetes insipidus Petechiae Wheezing Pulmonary infiltrates Gangrene Tracheal stenosis Angina pectoris Concave nasal ridge Abnormality of the nose Abnormality of the hypothalamus-pituitary axis Nasal obstruction Hoarse voice Periorbital edema Rhinorrhea Ocular pain Subglottic stenosis Granulomatosis Neuritis Endocarditis Ureteral stenosis Abnormal oral cavity morphology Arteritis Increased inflammatory response Scleritis Recurrent intrapulmonary hemorrhage Venous thrombosis Sinusitis Hyperkalemia Gastrointestinal infarctions Amyloidosis Increased serum ferritin Gout Edema of the lower limbs Acute hepatic failure Oral leukoplakia Anemia of inadequate production Peritonitis Decreased circulating aldosterone level Synovitis Stiff neck Congenital hypoplastic anemia Erysipelas Renal amyloidosis Diplopia Azotemia Recurrent meningitis Orchitis Hearing impairment Respiratory distress Cardiomyopathy Proptosis Immunodeficiency Retinopathy Paresthesia Otitis media Epistaxis Subcutaneous nodule Dilatation Peripheral arterial stenosis Optic atrophy Cirrhosis Ventricular hypertrophy Inflammatory abnormality of the skin Nephrolithiasis Blurred vision Episodic abdominal pain Oral ulcer Dysphagia Gastroesophageal reflux Jaundice Cholestasis Fasciitis Hyperbilirubinemia Encephalitis Elevated alkaline phosphatase Steatorrhea Telangiectasia of the skin Scleroderma Calcinosis Esophageal varix Biliary cirrhosis Camptodactyly Malar rash Abnormality of the gastric mucosa Failure to thrive Sepsis Recurrent pneumonia Colitis Ulcerative colitis Falls Joint swelling Juvenile rheumatoid arthritis Anterior uveitis Growth delay Joint stiffness Follicular hyperplasia Scarring Nail dystrophy Abnormal lung morphology Decreased body weight Lymphopenia Tachypnea Increased antibody level in blood Interstitial pulmonary abnormality Pustule Low-grade fever Lichenification Mucosal telangiectasiae Small vessel vasculitis Joint dislocation Arteriovenous malformation Facial paralysis Hemianopia Arterial stenosis Thromboembolic stroke Amaurosis fugax Vascular skin abnormality Lymphoma Recurrent bacterial infections Cerebral palsy Transient ischemic attack Reduced tendon reflexes Urticaria Nephritis Hemiplegia/hemiparesis Emphysema Pericardial effusion Abnormal heart valve morphology Angioedema Immunologic hypersensitivity Obstructive lung disease Acrocyanosis Atrophic scars Sclerodactyly Dementia Lip telangiectasia Palmar telangiectasia Calcinosis cutis Generalized abnormality of skin Muscle weakness Motor delay Dysarthria Tremor Behavioral abnormality Facial palsy Visual field defect Mental deterioration Developmental regression Confusion Vertigo Chorea Migraine Memory impairment Intracranial hemorrhage Personality changes Heart murmur Prostatitis



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