Arthritis, and Stroke

Diseases related with Arthritis and Stroke

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


Top matches:

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 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

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Other less relevant matches:

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 EHLERS-DANLOS SYNDROME DUE TO TENASCIN-X DEFICIENCY


Ehlers-Danlos syndrome due to tenascin-X deficiency is a type of Ehlers-Danlos syndrome characterized by generalized joint hypermobility, skin hyperextensibility and easy bruising without atrophic scarring. Other common features include foot and hand deformities (piezogenic papules, pes planus, broad forefeet, brachydactyly, and acrogenic skin of hands), severe fatigue and neuromuscular symptoms including muscle weakness and myalgia.

EHLERS-DANLOS SYNDROME DUE TO TENASCIN-X DEFICIENCY Is also known as eds, classic-like type|ehlers-danlos syndrome, classic-like type|ehlers-danlos syndrome due to tenascin-x deficiency|eds due to tnx deficiency|tnx deficiency

Related symptoms:

  • Muscle weakness
  • Muscular hypotonia
  • Pain
  • Peripheral neuropathy
  • Skeletal muscle atrophy


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about EHLERS-DANLOS SYNDROME DUE TO TENASCIN-X DEFICIENCY

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 ATTRV30M AMYLOIDOSIS


Familial amyloid polyneuropathy (FAP) or transthyretin (TTR) amyloid polyneuropathy is a progressive sensorimotor and autonomic neuropathy of adulthood onset. Weight loss and cardiac involvement are frequent; ocular or renal complications may also occur.

ATTRV30M AMYLOIDOSIS Is also known as familial amyloid polyneuropathy type i|ttr amyloid neuropathy|attrv30m-related amyloidosis|hereditary amyloidosis, transthyretin-related|transthyretin amyloid polyneuropathy|familial amyloid polyneuropathy, portuguese-swedish-japanese type|fap|amyloid pol

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about ATTRV30M AMYLOIDOSIS

Low 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

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 TRICHORHINOPHALANGEAL SYNDROME, TYPE I; TRPS1


Trichorhinophalangeal syndrome type I is a malformation syndrome characterized by distinctive craniofacial and skeletal abnormalities and is inherited as an autosomal dominant (Momeni et al., 2000). TRPS I patients have sparse scalp hair, bulbous tip of the nose, long flat philtrum, thin upper vermilion border, and protruding ears. Skeletal abnormalities include cone-shaped epiphyses at the phalanges, hip malformations, and short stature.

TRICHORHINOPHALANGEAL SYNDROME, TYPE I; TRPS1 Is also known as trps i

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about TRICHORHINOPHALANGEAL SYNDROME, TYPE I; TRPS1

Top 5 symptoms//phenotypes associated to Arthritis and Stroke

Symptoms // Phenotype % cases
Pain Uncommon - Between 30% and 50% cases
Peripheral neuropathy Uncommon - Between 30% and 50% cases
Arrhythmia Uncommon - Between 30% and 50% cases
Arthralgia Uncommon - Between 30% and 50% cases
Ataxia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Fever Vasculitis Headache Anemia Hematuria Hypertension Paraplegia Myalgia Fatigue Dilatation Hemiparesis Muscle weakness Elevated erythrocyte sedimentation rate Abdominal pain Gastrointestinal hemorrhage Visual impairment Visual loss Blindness

Rare Symptoms - Less than 30% cases


Rheumatoid arthritis Dysarthria Sensorineural hearing impairment Nystagmus Hearing impairment Meningitis Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis Alopecia Myocardial infarction Joint hypermobility Lymphadenopathy Mitral valve prolapse Epistaxis Mitral regurgitation Sudden cardiac death Ischemic stroke Recurrent pharyngitis Pericarditis Cerebral hemorrhage Aortic dissection Leukocytosis Migraine Aphasia Diarrhea Bruising susceptibility Arteritis Glossitis Paresthesia Ptosis Edema Scarring Optic atrophy Skin rash Weight loss Gout Osteoarthritis Congestive heart failure Renal insufficiency Allergy Pyuria Conjunctival hyperemia Abnormal pericardium morphology Synovitis Abnormal myocardium morphology Cheilitis Inflammatory abnormality of the eye Abnormality of nail color CSF pleocytosis Arthralgia/arthritis Cholecystitis Elevated C-reactive protein level Ascending tubular aorta aneurysm Abnormal oral mucosa morphology Coronary artery aneurysm Cervical lymphadenopathy Cranial nerve paralysis Myocarditis Myelopathy Vitreous floaters Orthostatic hypotension due to autonomic dysfunction Psychomotor deterioration Urinary retention Sensory ataxia Abnormal renal physiology Constrictive median neuropathy Amyloid deposition in the vitreous humor Stroke-like episode Multiple myeloma Restrictive cardiomyopathy Increased CSF protein Syringomyelia Amyloidosis Decreased number of peripheral myelinated nerve fibers Cardiac amyloidosis Jaundice Tubulointerstitial nephritis Hypoalbuminemia Aortic root aneurysm Acute kidney injury Abnormal heart valve morphology Interstitial pulmonary abnormality Coronary artery atherosclerosis Hyponatremia Scaling skin Conjunctivitis Proteinuria Decreased liver function Cholestasis Hepatitis Nausea and vomiting Erythema Respiratory tract infection Irritability Abnormal emotion/affect behavior Skin ulcer Strawberry tongue Short metacarpal Short metatarsal Infantile muscular hypotonia Scapular winging Narrow palate Sparse scalp hair Fine hair Microdontia Dental malocclusion Delayed eruption of teeth Cone-shaped epiphysis Bulbous nose Smooth philtrum Carious teeth Hypotrichosis Spastic paraplegia Pectus carinatum Sparse hair Protruding ear Deep philtrum Short finger Low-set, posteriorly rotated ears Thin nail Swelling of proximal interphalangeal joints Cone-shaped epiphyses of the proximal phalanges of the hand Chin with horizontal crease Accelerated bone age after puberty Coxa magna Abnormally low-pitched voice Cone-shaped epiphyses of the middle phalanges of the hand Pear-shaped nose Flat capital femoral epiphysis Progressive spastic paraplegia Pseudohypoparathyroidism Leukonychia Thin eyebrow Concave nail Spastic ataxia Slow-growing hair Avascular necrosis of the capital femoral epiphysis Spondylolisthesis Sparse lateral eyebrow Hyperlordosis Thin upper lip vermilion Aseptic leukocyturia Anorexia Arterial thrombosis Cerebral ischemia Gangrene Visual field defect Diabetes insipidus Ophthalmoparesis Axonal degeneration Diplopia Optic disc pallor Abnormality of the pleura Hepatic failure Vertigo Cough Joint stiffness Conductive hearing impairment Hyperhidrosis Depressivity Abnormal gallbladder morphology Abnormal thrombocyte morphology Mediastinal lymphadenopathy Pes planus Brachydactyly Osteopenia Macrotia Hypogonadism Posteriorly rotated ears Recurrent respiratory infections Delayed skeletal maturation Long philtrum Abnormality of the skeletal system Micrognathia Amaurosis fugax Scoliosis Generalized hypotonia Short stature Intellectual disability Jaw claudication Retinal arteritis Gastrointestinal infarctions Impaired mastication Abdominal aortic aneurysm Orthostatic hypotension Hyporeflexia Malnutrition Colon cancer Hamartomatous polyposis Cavernous hemangioma Arteriovenous malformation Hematochezia Subarachnoid hemorrhage Iron deficiency anemia Clubbing Gastrointestinal carcinoma Aortic aneurysm Hemangioma Telangiectasia Abnormality of extrapyramidal motor function Ventriculomegaly Neoplasm Splenic rupture Cerebral arteriovenous malformation Pulmonary arteriovenous malformation Oral cavity bleeding Arachnodactyly Spina bifida Thin skin Ambiguous genitalia Vesicoureteral reflux Bifid uvula Single transverse palmar crease Sensory neuropathy Joint hyperflexibility Hepatic arteriovenous malformation Joint laxity Proximal muscle weakness Hernia Skeletal muscle atrophy Muscular hypotonia Juvenile gastrointestinal polyposis Intrapulmonary shunt Bleeding with minor or no trauma Intramuscular hematoma Hyperextensible skin Reduced visual acuity Drusen Emphysema Macular degeneration Abnormality of the cardiovascular system Progressive visual loss Hypopigmentation of the skin Cataract Geographic atrophy Glucose intolerance Hypercholesterolemia Hyperlipidemia Atherosclerosis Hypertriglyceridemia Type II diabetes mellitus Diabetes mellitus Choroidal neovascularization Macular drusen Persistent bleeding after trauma Abnormality of the elbow Intraventricular hemorrhage Reduced factor VIII activity Spontaneous hematomas Joint hemorrhage Stomatitis Prolonged partial thromboplastin time Dyschromatopsia Joint swelling Polypoidal choroidal vasculopathy Thromboembolism Arthropathy Intracranial hemorrhage Muscular dystrophy Flexion contracture Macular hemorrhage Foveal hypopigmentation Spina bifida occulta Psoriasiform dermatitis Impotence Tremor Constipation Osteoporosis Areflexia Vomiting Cardiomyopathy Hydrocephalus Spasticity Facial palsy Seizures Central retinal artery occlusion Retinal arterial occlusion Lupus anticoagulant Pure red cell aplasia Panniculitis Antiphospholipid antibody positivity Dementia Malabsorption Granulocytopenia Bilateral sensorineural hearing impairment Cachexia Atrioventricular block Spastic paraparesis Paraparesis Abnormal autonomic nervous system physiology Hallucinations Cardiomegaly Peripheral demyelination Peripheral axonal neuropathy Neuronal loss in central nervous system Hypotension Urinary incontinence Gliosis Coma Polyneuropathy Nephropathy Erythema nodosum Immune dysregulation Unilateral renal agenesis Increased connective tissue Premature arteriosclerosis Ambiguous genitalia, female Congenital adrenal hyperplasia Arteriosclerosis Rectal prolapse Poor wound healing Muscle fiber splitting Precocious atherosclerosis Hepatomegaly Bicornuate uterus Proximal amyotrophy Adrenal hyperplasia Hiatus hernia Adrenal hypoplasia Soft skin Atrophic scars Quadricuspid aortic valve Splenomegaly Hypercoagulability Purpura Raynaud phenomenon Thrombocytosis Combined immunodeficiency Agitation Cutis marmorata Hemiplegia Leukopenia Foot dorsiflexor weakness Immunodeficiency Pancytopenia Decreased antibody level in blood Ophthalmoplegia Papule Abnormality of the liver Elevated hepatic transaminase Hepatosplenomegaly Ivory epiphyses of the distal phalanges of the hand



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Rheumatoid arthritis, related diseases and genetic alterations

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