Arthritis, and Ischemic stroke

Diseases related with Arthritis and Ischemic stroke

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


Top matches:

Medium 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

Medium match KAWASAKI DISEASE


Kawasaki disease (KD) is a febrile, systemic, self-limiting vasculitis affecting children and characterized by inflammation in the medium sized vessels associated with coronary arterial aneurysms (CAA) that may be life threatening when untreated. KD is the most common cause of acquired heart disease in children in developed countries and is a risk factor for ischemic heart disease in adulthood.

KAWASAKI DISEASE Is also known as kd|infantile polyarteritis|mucocutaneous lymph node syndrome

Related symptoms:

  • Sensorineural hearing impairment
  • Ptosis
  • Fever
  • Fatigue
  • Edema


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about KAWASAKI DISEASE

Medium match FABRY DISEASE


Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations.

FABRY DISEASE Is also known as ceramide trihexosidase deficiency|hereditary dystopic lipidosis|fd|alpha-galactosidase a deficiency|diffuse angiokeratoma|gla deficiency|angiokeratoma corporis diffusum|anderson-fabry disease

Related symptoms:

  • Seizures
  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Pain


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about FABRY DISEASE

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Other less relevant matches:

Medium match TAKAYASU ARTERITIS


Takayasu arteritis (TAK) is a rare inflammatory large-vessel vasculitis primarily affecting the aorta and its major branches, but also other large vessels, causing stenosis, occlusion, or aneurysm.

TAKAYASU ARTERITIS Is also known as young female arteritis|aortic arch syndrome|pulseless disease

Related symptoms:

  • Seizures
  • Muscle weakness
  • Anemia
  • Hypertension
  • Fever


SOURCES: ORPHANET OMIM MENDELIAN

More info about TAKAYASU ARTERITIS

Low match CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT 2; ADCAD2


Related symptoms:

  • Hypertension
  • Osteoporosis
  • Diabetes mellitus
  • Stroke
  • Sudden cardiac death


SOURCES: OMIM MESH MENDELIAN

More info about CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT 2; ADCAD2

Low match MACULAR DEGENERATION, AGE-RELATED, 1; ARMD1


Age-related macular degeneration (ARMD) is a progressive degeneration of photoreceptors and underlying retinal pigment epithelium (RPE) cells in the macula region of the retina. It is a highly prevalent disease and a major cause of blindness in the Western world. Drusen, pale excrescences of variable size, and other deposits accumulate below the RPE on the Bruch membrane; clinical and histopathologic investigations have shown that these extracellular deposits are the hallmark of early ARMD. As ARMD advances, areas of geographic atrophy of the RPE can cause visual loss, or choroidal neovascularization can occur to cause wet, or exudative, ARMD with accompanying central visual loss (summary by De et al., 2007). Genetic Heterogeneity of Age-Related Macular DegenerationARMD2 (OMIM ) is associated with mutation in the ABCR gene (OMIM ) on chromosome 1p, and ARMD3 (OMIM ) is caused by mutation in the FBLN5 gene (OMIM ) on chromosome 14q31. Up to 50% of the attributable risk of age-related macular degeneration (ARMD4 ) appears to be explained by a polymorphism in the CFH gene ({134370.0008}). ARMD5 (OMIM ) and ARMD6 (OMIM ) are associated with mutation in the ERCC6 (OMIM ) and RAX2 (OMIM ) genes, respectively. ARMD7 (OMIM ) and ARMD8 (OMIM ), which both represent susceptibility linked to chromosome 10q26, are associated with single-nucleotide polymorphisms in the HTRA1 (OMIM ) and ARMS2 (OMIM ) genes, respectively. ARMD9 (OMIM ) is associated with single-nucleotide polymorphisms in the C3 gene (OMIM ). ARMD10 (OMIM ) maps to chromosome 9q32 and may be associated with a polymorphism in the TLR4 gene (OMIM ). ARMD11 (OMIM ) is association with variation in the CST3 gene (OMIM ); ARMD12 (OMIM ) with variation in the CX3CR1 gene (OMIM ); and ARMD13 (OMIM ) with variation in the CFI gene (OMIM ). ARMD14 (OMIM ) is associated with variation in or near the C2 (OMIM ) and CFB (OMIM ) genes on chromosome 6p21. ARMD15 (OMIM ) is associated with variation in the C9 gene (OMIM ). There is evidence for a form of ARMD caused by mutation in the mitochondrial gene MTTL1 (OMIM ).A haplotype carrying deletion of the complement factor H-related genes CFHR1 (OMIM ) and CFHR3 (OMIM ) is also associated with reduced risk of ARMD.Lotery and Trump (2007) reviewed the molecular biology of age-related macular degeneration and tabulated the genes associated with ARMD, including those with only positive findings versus genes for which conflicting results have been found.

MACULAR DEGENERATION, AGE-RELATED, 1; ARMD1 Is also known as maculopathy, age-related, 1

Related symptoms:

  • Cataract
  • Visual impairment
  • Hypertension
  • Blindness
  • Visual loss


SOURCES: MESH OMIM MENDELIAN

More info about MACULAR DEGENERATION, AGE-RELATED, 1; ARMD1

Low match GIANT CELL ARTERITIS


Giant cell arteritis (GCA) is a large vessel vasculitis predominantly involving the arteries originating from the aortic arch and especially the extracranial branches of the carotid arteries.

GIANT CELL ARTERITIS Is also known as horton disease|giant cell arteritis|temporal arteritis|cranial arteritis|polymyalgia rheumatica|gca

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Muscle weakness
  • Ptosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about GIANT CELL ARTERITIS

Low match HEMOPHILIA A; HEMA


Hemophilia A is an X-linked recessive bleeding disorder caused by a deficiency in the activity of coagulation factor VIII. The disorder is clinically heterogeneous with variable severity, depending on the plasma levels of coagulation factor VIII: mild, with levels 6 to 30% of normal; moderate, with levels 2 to 5% of normal; and severe, with levels less than 1% of normal. Patients with mild hemophilia usually bleed excessively only after trauma or surgery, whereas those with severe hemophilia have an annual average of 20 to 30 episodes of spontaneous or excessive bleeding after minor trauma, particularly into joints and muscles. These symptoms differ substantially from those of bleeding disorders due to platelet defects or von Willebrand disease (OMIM ), in which mucosal bleeding predominates (review by Mannucci and Tuddenham, 2001).

HEMOPHILIA A; HEMA Is also known as hemophilia, classic

Related symptoms:

  • Pain
  • Anemia
  • Flexion contracture
  • Peripheral neuropathy
  • Blindness


SOURCES: ORPHANET OMIM MENDELIAN

More info about HEMOPHILIA A; HEMA

Low match JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME; JPHT


The JPHT syndrome includes the features of both the juvenile polyposis syndrome (JPS ) and hereditary hemorrhagic telangiectasia (HHT ) in a single individual. JPS is characterized by hamartomatous polyps occurring throughout the gastrointestinal tract, resulting in an increased risk of gastrointestinal cancer, and HHT is a vascular dysplasia characterized by telangiectases of the skin, and oral and nasal mucosa, epistaxis, and arteriovenous malformations (AVMs) of the lungs, liver, brain, and gastrointestinal tract (summary by Gallione et al., 2010).

JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME; JPHT Is also known as jps/hht|polyposis, generalized juvenile, with pulmonary arteriovenous malformation|telangiectasia, hereditary hemorrhagic, with juvenile polyposis coli|juvenile polyposis with hereditary hemorrhagic telangiectasia|jp/hht syndrome

Related symptoms:

  • Neoplasm
  • Anemia
  • Ventriculomegaly
  • Dilatation
  • Visual loss


SOURCES: OMIM MENDELIAN

More info about JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME; JPHT

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 Arthritis and Ischemic stroke

Symptoms // Phenotype % cases
Stroke Common - Between 50% and 80% cases
Fever Common - Between 50% and 80% cases
Hypertension Common - Between 50% and 80% cases
Arthralgia Common - Between 50% and 80% cases
Elevated erythrocyte sedimentation rate Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Arthritis and Ischemic stroke. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Myalgia Fatigue Arrhythmia Vasculitis Hematuria Myocardial infarction Abdominal pain Peripheral neuropathy Dilatation Headache Anemia Arteritis Pain Skin rash Visual loss Diabetes insipidus Renal insufficiency Hearing impairment Sensorineural hearing impairment Seizures Edema Cerebral ischemia Pericarditis Abnormal heart valve morphology Meningitis Proteinuria Gangrene Nausea and vomiting Inflammatory abnormality of the eye Skin ulcer Hyperhidrosis Weight loss Mitral regurgitation Anorexia Subcutaneous nodule Papule Blindness Sudden cardiac death Paresthesia Gastrointestinal hemorrhage Purpura Hemiplegia Chest pain Cough Optic atrophy Visual impairment Epistaxis

Rare Symptoms - Less than 30% cases


Mitral valve prolapse Muscle weakness Elevated C-reactive protein level Diplopia Ascending tubular aorta aneurysm Retinopathy Recurrent pharyngitis Abnormality of the cardiovascular system Glossitis Aortic dissection Abnormal myocardium morphology Clubbing Glomerulopathy Wheezing Cataract Gout Hypertrophic cardiomyopathy Increased inflammatory response Cardiomyopathy Respiratory insufficiency Emphysema Gastrointestinal infarctions Nephropathy Amaurosis fugax Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis Vertigo Aortic regurgitation Dyspnea Hemoptysis Hyperlipidemia Depressivity Ataxia Tubulointerstitial nephritis Migraine Abnormal endocardium morphology Lymphadenopathy Hemiparesis Leukocytosis Abnormality of the nose Ptosis Diarrhea Congestive heart failure Chronic obstructive pulmonary disease Angina pectoris Abnormal aortic valve morphology Aortic root aneurysm Coronary artery atherosclerosis Cranial nerve paralysis Conjunctivitis Interstitial pulmonary abnormality Reduced visual acuity Scarring Hypopigmentation of the skin Hyposthenuria Progressive visual loss Geographic atrophy Shortened QT interval Impaired temperature sensation Angiokeratoma corporis diffusum Macular degeneration Drusen Obstructive lung disease Choroidal neovascularization Macular drusen Angiokeratoma Abnormality of the common coagulation pathway Polypoidal choroidal vasculopathy Reduced sperm motility Increased blood urea nitrogen Foveal hypopigmentation Macular hemorrhage Distal renal tubular acidosis Vascular tortuosity Abnormal glomerular filtration rate Nystagmus Alopecia Decreased glomerular filtration rate Nephrogenic diabetes insipidus Conductive hearing impairment Decreased lacrimation Pulmonary arterial hypertension Shortened PR interval Increased glomerular filtration rate Abnormal common carotid artery morphology Psoriasiform dermatitis Heavy proteinuria Abnormal ST segment Neurological speech impairment Tenesmus Reduced consciousness/confusion Abnormal pattern of respiration Arterial stenosis Increased carotid artery intimal medial thickness Left ventricular septal hypertrophy Tortuosity of conjunctival vessels Hyperkeratotic papule Abnormality of the forehead Abnormality of glycosphingolipid metabolism Acroparesthesia Cornea verticillata Glucose intolerance Hypercholesterolemia Atherosclerosis Hypertriglyceridemia Concentric hypertrophic cardiomyopathy Type II diabetes mellitus Mucosal telangiectasiae Hypertensive crisis Diabetes mellitus Osteoporosis Unexplained fevers ST segment depression Functional abnormality of the gastrointestinal tract Impaired renal concentrating ability Coronary artery stenosis Stomatitis Joint stiffness Sensory neuropathy Stridor Chronic otitis media Pleural effusion Glomerulonephritis Venous thrombosis Pancreatitis Hoarse voice Sinusitis Otitis media Autoimmunity Pulmonary fibrosis Paralysis Hydronephrosis Proptosis Recurrent respiratory infections Respiratory distress Juvenile gastrointestinal polyposis Intrapulmonary shunt Hepatic arteriovenous malformation Pulmonary arteriovenous malformation Intestinal obstruction Restrictive ventilatory defect Cerebral arteriovenous malformation Subglottic stenosis Recurrent intrapulmonary hemorrhage Scleritis Episcleritis Abnormal oral cavity morphology Ureteral stenosis Endocarditis Neuritis Granulomatosis Pleuritis Ocular pain Petechiae Rhinorrhea Periorbital edema Nasal obstruction Recurrent corneal erosions Abnormality of the hypothalamus-pituitary axis Concave nasal ridge Tracheal stenosis Myositis Pulmonary infiltrates Gastrointestinal carcinoma Hamartomatous polyposis Hepatic failure Jaw claudication Abnormality of the elbow Joint swelling Thromboembolism Arthropathy Intracranial hemorrhage Osteoarthritis Bruising susceptibility Muscular dystrophy Flexion contracture Retinal arteritis Prolonged partial thromboplastin time Impaired mastication Abdominal aortic aneurysm Mediastinal lymphadenopathy Abnormality of the pleura Abnormal thrombocyte morphology Arterial thrombosis Visual field defect Ophthalmoparesis Optic disc pallor Dyschromatopsia Limb pain Cavernous hemangioma Joint hypermobility Arteriovenous malformation Hematochezia Subarachnoid hemorrhage Iron deficiency anemia Colon cancer Aortic aneurysm Hemangioma Telangiectasia Abnormality of extrapyramidal motor function Ventriculomegaly Joint hemorrhage Neoplasm Splenic rupture Bleeding with minor or no trauma Oral cavity bleeding Intramuscular hematoma Persistent bleeding after trauma Intraventricular hemorrhage Reduced factor VIII activity Spontaneous hematomas Abnormality of temperature regulation Tubular atrophy Corneal crystals Strawberry tongue Constipation Midface retrusion Behavioral abnormality Vomiting Cognitive impairment Short stature Abnormal gallbladder morphology Aseptic leukocyturia Abnormal emotion/affect behavior Hyperkeratosis Pyuria Arthralgia/arthritis Abnormality of nail color Coronary artery aneurysm Cervical lymphadenopathy CSF pleocytosis Conjunctival hyperemia Abnormal pericardium morphology Posteriorly rotated ears Hypothyroidism Cholecystitis Malabsorption Muscle cramps Thick vermilion border Thick eyebrow Bulbous nose Tachycardia Nausea Stage 5 chronic kidney disease Delayed puberty Abnormality of the cerebral white matter Mandibular prognathia Pruritus Corneal opacity Prominent nasal bridge Developmental regression Abnormality of the kidney Abnormality of the nervous system Anxiety Carcinoma Coarse facial features Abnormal oral mucosa morphology Synovitis Syncope Foot dorsiflexor weakness Raynaud phenomenon Thrombocytosis Aphasia Combined immunodeficiency Agitation Cerebral hemorrhage Cutis marmorata Leukopenia Pancytopenia Immune dysregulation Decreased antibody level in blood Paraplegia Ophthalmoplegia Abnormality of the liver Elevated hepatic transaminase Hepatosplenomegaly Immunodeficiency Splenomegaly Hepatomegaly Hypercoagulability Granulocytopenia Cheilitis Hepatitis Allergy Myocarditis Acute kidney injury Hyponatremia Scaling skin Hypoalbuminemia Decreased liver function Cholestasis Erythema Erythema nodosum Respiratory tract infection Irritability Jaundice Central retinal artery occlusion Retinal arterial occlusion Lupus anticoagulant Pure red cell aplasia Panniculitis Antiphospholipid antibody positivity Abdominal distention Urinary incontinence Retinal vascular tortuosity Heat intolerance Abnormality of femur morphology Chronic fatigue Myocardial fibrosis Sinus bradycardia Achalasia Clubbing of fingers Peripheral arterial stenosis Reduced ejection fraction Supraventricular tachycardia High-frequency hearing impairment Large earlobe Oligospermia Abnormality of the gastrointestinal tract Elevated serum creatinine Edema of the lower limbs Renal tubular dysfunction Transient ischemic attack Xerostomia Restrictive cardiomyopathy Asymmetric septal hypertrophy Abnormality of lipid metabolism Dysesthesia Vascular skin abnormality Decreased female libido Abnormality of cardiovascular system physiology Biventricular hypertrophy Primary hypothyroidism Microalbuminuria Conjunctival telangiectasia Supraventricular arrhythmia Abnormal cornea morphology Abnormal mitral valve morphology Abnormality of the renal tubule Abnormal thrombosis Tubulointerstitial fibrosis Chronic pain Abnormal renal physiology Miosis T-wave inversion Gastrointestinal dysmotility Periorbital fullness Abnormal EKG Renal tubular acidosis Hypotension Fasciculations Corneal dystrophy Progressive hearing impairment Abnormal intestine morphology Ventricular tachycardia Aminoaciduria Exercise intolerance Spontaneous abortion Abnormal autonomic nervous system physiology Bradycardia Ventricular arrhythmia Lymphedema Hypohidrosis Left ventricular hypertrophy Abnormal lung morphology Palpitations Atrial fibrillation Thick lower lip vermilion Ventricular hypertrophy Nephrotic syndrome Reduced bone mineral density Tinnitus Glycosuria Polyuria Telangiectasia of the skin Celiac disease Orthostatic hypotension Progressive sensorineural hearing impairment Impotence Bundle branch block Loss of consciousness Anhidrosis Tricuspid regurgitation Easy fatigability Impaired vibratory sensation Heart murmur Personality changes Polydipsia Glomerulosclerosis Abnormality of the hand Prominent supraorbital ridges Chronic kidney disease Atrioventricular block Prostatitis



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