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:
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
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
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
Too many results?
We can help you with your rare disease diagnosis.
Learn more
Other less relevant matches:
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
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
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
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
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
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
|
Accelerate your rare disease diagnosis with us
Learn more
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
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like
Frontal bossing and Nephrotic syndrome, related diseases and genetic alterations
Need help with a diagnosis?
Learn more about how to achieve it with Mendelian
Learn more