Autoimmunity, and Stroke

Diseases related with Autoimmunity and Stroke

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


Top matches:

Low match AUTOIMMUNE HEMOLYTIC ANEMIA-AUTOIMMUNE THROMBOCYTOPENIA-PRIMARY IMMUNODEFICIENCY SYNDROME


AUTOIMMUNE HEMOLYTIC ANEMIA-AUTOIMMUNE THROMBOCYTOPENIA-PRIMARY IMMUNODEFICIENCY SYNDROME Is also known as tppii-related immunodeficiency, autoimmunity, and neurodevelopmental delay with impaired glycolysis and lysosomal expansion disease|tppii deficiency|triangle disease|tripeptidyl-peptidase ii deficiency|evans syndrome associated with primary immunodeficien

Related symptoms:

  • Splenomegaly
  • Respiratory tract infection
  • Autoimmunity
  • Stroke
  • Lymphadenopathy


SOURCES: ORPHANET MENDELIAN

More info about AUTOIMMUNE HEMOLYTIC ANEMIA-AUTOIMMUNE THROMBOCYTOPENIA-PRIMARY IMMUNODEFICIENCY 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 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

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Other less relevant matches:

Low match WALDENSTRÖM MACROGLOBULINEMIA


Waldenström macroglobulinemia (WM) is an indolent B-cell lymphoproliferative disorder characterized by the accumulation of monoclonal cells in the bone marrow and peripheral lymphoid tissues, and associated with the production of serum immunoglobulin M (IgM) monoclonal protein.

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Neoplasm
  • Anemia
  • Peripheral neuropathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about WALDENSTRÖM MACROGLOBULINEMIA

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

Low match BEHÇET DISEASE


Behçet's disease (BD) is a chronic, relapsing, multisystemic vasculitis characterized by mucocutaneous lesions, as well as articular, vascular, ocular and central nervous system manifestations.

BEHÇET DISEASE Is also known as bd|behcet disease

Related symptoms:

  • Seizures
  • Ataxia
  • Neoplasm
  • Pain
  • Cataract


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about BEHÇET DISEASE

Low 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

Low match MELAS


MELAS (Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke) syndrome is a rare progressive multisystemic disorder characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes. Other features include endocrinopathy, heart disease, diabetes, hearing loss, and neurological and psychiatric manifestations.

MELAS Is also known as mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes|melas syndrome|mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MELAS

Low match SICKLE CELL-BETA-THALASSEMIA DISEASE SYNDROME


SICKLE CELL-BETA-THALASSEMIA DISEASE SYNDROME Is also known as hbs-beta-thalassemia syndrome

Related symptoms:

  • Pain
  • Anemia
  • Hypertension
  • Pneumonia
  • Jaundice


SOURCES: ORPHANET MENDELIAN

More info about SICKLE CELL-BETA-THALASSEMIA DISEASE SYNDROME

Low match STROKE, ISCHEMIC


A stroke is an acute neurologic event leading to death of neural tissue of the brain and resulting in loss of motor, sensory and/or cognitive function. It is said to be the third leading cause of death in the United States. Gunel and Lifton (1996) noted that about 20% of strokes are hemorrhagic, resulting in bleeding into the brain. Ischemic strokes, resulting from vascular occlusion, account for the majority of strokes.Bersano et al. (2008) reviewed genetic polymorphisms that have been implicated in the development of stroke. Candidate genes include those involved in hemostasis (see, e.g., F5; {612309}), the renin-angiotensin-aldosterone system (see, e.g., ACE; {106180}), homocysteine (see, e.g., MTHFR; {607093}), and lipoprotein metabolism (see, e.g., APOE; {107741}).See also hemorrhagic stroke, or intracerebral hemorrhage (ICH ).

STROKE, ISCHEMIC Is also known as cerebral infarction|cerebrovascular accident

Related symptoms:

  • Stroke
  • Cerebral hemorrhage


SOURCES: OMIM MENDELIAN

More info about STROKE, ISCHEMIC

Top 5 symptoms//phenotypes associated to Autoimmunity and Stroke

Symptoms // Phenotype % cases
Headache Common - Between 50% and 80% cases
Hypertension Common - Between 50% and 80% cases
Pain Common - Between 50% and 80% cases
Fever 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 Stroke. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Myalgia Seizures Migraine Cerebral ischemia Renal insufficiency Anemia Hemiparesis Hemiplegia Purpura Abdominal pain Nephropathy Peripheral neuropathy Vertigo Fatigue Developmental regression Diarrhea Memory impairment Splenomegaly Visual loss Glomerulopathy Lymphadenopathy Ataxia Weight loss Malabsorption Respiratory insufficiency Nausea and vomiting Hepatomegaly Pancreatitis Paresthesia Arthritis Papule Elevated erythrocyte sedimentation rate Gastrointestinal hemorrhage Proteinuria Congestive heart failure Raynaud phenomenon Cardiomyopathy Pulmonary infiltrates Hearing impairment Pleural effusion Cranial nerve paralysis Dyspnea Anorexia Confusion Dementia Motor delay Cutis marmorata Transient ischemic attack Visual impairment Myocardial infarction Aphasia

Rare Symptoms - Less than 30% cases


Arthralgia Lymphoproliferative disorder Increased inflammatory response Cognitive impairment Chronic kidney disease Periorbital edema Reduced consciousness/confusion Cataract Blindness Hyperreflexia Gait disturbance Cerebellar atrophy Muscle weakness Growth delay Epistaxis Lymphoma Polyneuropathy Hemoptysis Focal segmental glomerulosclerosis Short neck Vomiting Sensorineural hearing impairment Chest pain Pericarditis Myositis Abnormal cerebellum morphology Intestinal obstruction Glomerulonephritis Venous thrombosis Meningitis Nephrotic syndrome Subcutaneous nodule Hypothyroidism Pneumonia Respiratory distress Delayed puberty Lymphopenia Cough Retinopathy Systemic lupus erythematosus Pleuritis Kyphosis Abnormality of the dentition Endocarditis Arrhythmia Tremor Proptosis Dysarthria Behavioral abnormality Immunodeficiency Encephalitis Personality changes Recurrent infections Heart murmur Skin rash Abnormality of the liver Dilatation Optic atrophy Cerebral hemorrhage Visual field defect Pulmonary embolism Thrombocytosis Lupus anticoagulant Antiphospholipid antibody positivity Amaurosis fugax Hemianopia Ischemic stroke Ophthalmoplegia Gangrene Erythema nodosum Photophobia Mental deterioration Paralysis Neoplasm Short stature Intellectual disability Scarring Jaundice Erythema Combined immunodeficiency Hypercoagulability Hip dysplasia Cerebral calcification Amenorrhea EMG abnormality Ventricular hypertrophy Specific learning disability Generalized hirsutism Pigmentary retinopathy Increased serum lactate Sensory impairment Hypogonadotrophic hypogonadism Sudden cardiac death Status epilepticus Type I diabetes mellitus Pulmonary arterial hypertension Cerebral visual impairment Hypertrichosis Abnormality of the cardiovascular system Generalized-onset seizure Truncal ataxia Type II diabetes mellitus Involuntary movements Decreased body weight Bilateral sensorineural hearing impairment Gingival overgrowth Psychosis Cardiac arrest Clonus Abnormality of retinal pigmentation Hallucinations Atrial fibrillation Left ventricular hypertrophy Areflexia Generalized myoclonic seizures Gait ataxia Macular degeneration Apnea Myopathy Hypertonia Hypertrophic cardiomyopathy Anxiety EEG abnormality Gastroesophageal reflux Acidosis Dystonia Autism Cerebral cortical atrophy Abnormality of the pinna Diabetes mellitus Hypogonadism Osteoporosis Myoclonus Rod-cone dystrophy Cerebellar hypoplasia Cerebral atrophy Depressivity Constipation Delayed skeletal maturation Elevated serum creatine phosphokinase Encephalopathy Feeding difficulties in infancy Ventriculomegaly Muscular hypotonia Feeding difficulties Muscle cramps Postural instability Coma Hirsutism Polymicrogyria Ptosis Nausea Lactic acidosis Peripheral axonal neuropathy Ichthyosis Dysmetria Anal atresia Carious teeth Protruding ear Hyporeflexia Skeletal muscle atrophy Congenital cataract Dysphagia Arthrogryposis multiplex congenita Lethargy Generalized tonic-clonic seizures Pruritus Dilated cardiomyopathy Neurological speech impairment Attention deficit hyperactivity disorder Nyctalopia Exercise intolerance Neonatal hypoglycemia External ophthalmoplegia Abnormality of peripheral nerve conduction Persistence of primary teeth Writer's cramp Muscle fiber atrophy Psychomotor deterioration Dysesthesia Motor polyneuropathy Episodic vomiting Abnormality of the renal tubule Ileus Proximal tubulopathy Retinal pigment epithelial atrophy Spontaneous hematomas Speech apraxia Left ventricular failure Seborrheic dermatitis Stroke-like episode Anterior hypopituitarism Gait imbalance Wolff-Parkinson-White syndrome Increased CSF lactate Visual hallucinations Tubulointerstitial nephritis Renal tubular dysfunction Leber optic atrophy Gastroparesis Facial diplegia Cochlear malformation Morphological abnormality of the inner ear Morphological abnormality of the vestibule of the inner ear Bilateral intracranial calcifications Episodic quadriplegia Abnormality of acid-base homeostasis Homonymous hemianopia Abnormal cochlea morphology Paralytic ileus Abnormal mitochondrial shape Cochlear degeneration Progressive night blindness Edema of the dorsum of hands Auditory hallucinations Abnormal mitochondrial morphology Paronychia Spotty hypopigmentation Abnormal macular morphology Hemeralopia Crohn's disease Abnormality of the cerebellar vermis Psychotic episodes Tubulointerstitial abnormality Renal Fanconi syndrome Abnormal nerve conduction velocity Aortic dissection Cardiorespiratory arrest Reduced tendon reflexes Bilateral ptosis Overlapping toe Abnormality of neuronal migration Hemiplegia/hemiparesis Mask-like facies Bifid scrotum Aplasia/Hypoplasia of the cerebellum Ophthalmoparesis Hyponatremia Abnormality of mitochondrial metabolism Aortic aneurysm Hypercalciuria Bundle branch block Decreased nerve conduction velocity Cachexia Atrioventricular block Growth abnormality Easy fatigability Hyperkinesis Goiter Schizophrenia Mutism Hypopigmented skin patches Ragged-red muscle fibers Adrenal insufficiency Vestibular dysfunction Delusions Drowsiness Posterior subcapsular cataract Progressive external ophthalmoplegia Mitochondrial myopathy Hypoparathyroidism Heart block Xerostomia Vitiligo Nystagmus Abnormality of visual evoked potentials Hashimoto thyroiditis Atopic dermatitis Distal arthrogryposis Dysphasia Primary adrenal insufficiency Abnormality of immune system physiology Thyroiditis Rhabdomyolysis Hyperthyroidism Basal ganglia calcification Progressive sensorineural hearing impairment Vertebral fusion Multiple lipomas Prolonged QT interval Hyperkalemia Failure to thrive Astigmatism Hypertelorism Tracheal stenosis Elevated C-reactive protein level Inflammatory abnormality of the eye Nasal obstruction Recurrent corneal erosions Abnormality of the hypothalamus-pituitary axis Abnormality of the nose Concave nasal ridge Angina pectoris Chronic obstructive pulmonary disease Wheezing Ocular pain Petechiae Restrictive ventilatory defect Pulmonary fibrosis Diabetes insipidus Stridor Chronic otitis media Conjunctivitis Hoarse voice Skin ulcer Sinusitis Rhinorrhea Subglottic stenosis Otitis media Irritability Epiphora Inflammation of the large intestine Acne Rheumatoid arthritis Increased intracranial pressure Aortic regurgitation Mitral regurgitation Abnormal blistering of the skin Abnormal pyramidal sign Joint stiffness Reduced visual acuity Granulomatosis Glaucoma Alopecia Prostatitis Recurrent intrapulmonary hemorrhage Scleritis Arteritis Episcleritis Abnormal oral cavity morphology Ureteral stenosis Neuritis Diplopia Sensory neuropathy Keratoconjunctivitis sicca Arteriovenous malformation Pancytopenia Decreased antibody level in blood Paraplegia Elevated hepatic transaminase Hepatosplenomegaly Vascular skin abnormality Thromboembolic stroke Arterial stenosis Facial paralysis Peripheral arterial stenosis Acrocyanosis Leukopenia Atrophic scars Intracranial hemorrhage Chorea Facial palsy Moderate global developmental delay Autoimmune thrombocytopenia Autoimmune hemolytic anemia Recurrent otitis media Hepatitis Hemolytic anemia Foot dorsiflexor weakness Leukocytosis Hematuria Abnormality of the retinal vasculature Hydronephrosis Recurrent respiratory infections Polyclonal elevation of IgM Cryoglobulinemia Impaired lymphocyte transformation with phytohemagglutinin Monoclonal immunoglobulin M proteinemia Multifocal epileptiform discharges Retinal hemorrhage Abnormality of neutrophils Normocytic anemia Edema of the lower limbs Agitation Gingival bleeding Urticaria Leukemia Pallor Central retinal artery occlusion Retinal arterial occlusion Pure red cell aplasia Panniculitis Granulocytopenia Immune dysregulation Blurred vision Aseptic necrosis Microcephaly Nephritis Abnormality of the vasculature Protuberant abdomen Multiple cafe-au-lait spots Steatorrhea Hypermelanotic macule High pitched voice Emphysema Spondyloepiphyseal dysplasia Melanocytic nevus Epiphyseal dysplasia Ovoid vertebral bodies Glomerulosclerosis Coarse hair Reduced bone mineral density Azoospermia Hyperlipidemia Atherosclerosis Opacification of the corneal stroma Bone marrow hypocellularity Abnormality of epiphysis morphology Heterotopia Thoracic kyphosis Disproportionate short-trunk short stature Abnormal lung morphology Shallow acetabular fossae Global developmental delay Lateral displacement of the femoral head 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 B-cell lymphoma Multiple lentigines Mucopolysacchariduria Hypoplasia of the capital femoral epiphysis Arteriosclerosis Right ventricular cardiomyopathy Cellular immunodeficiency Dentinogenesis imperfecta Subvalvular aortic stenosis Precocious atherosclerosis Villous atrophy Abnormal form of the vertebral bodies Fine hair Uveitis Anterior uveitis Decreased level of D-mannose in urine Epididymitis Genital ulcers Panuveitis Superficial thrombophlebitis Orchitis Retrobulbar optic neuritis Iritis Iridocyclitis Posterior uveitis Optic neuritis Scoliosis Chorioretinitis Immunologic hypersensitivity Thrombophlebitis Oral ulcer Alopecia areata Stomatitis Recurrent aphthous stomatitis Arterial thrombosis Abnormal myocardium morphology Pustule Hypopyon Abnormal facial shape Intellectual disability, profound Stage 5 chronic kidney disease Lumbar hyperlordosis Microdontia Decreased testicular size Waddling gait Premature birth Brain atrophy Gliosis Neutropenia Bulbous nose Abnormality of skin pigmentation Respiratory tract infection Depressed nasal bridge Platyspondyly Hip dislocation Corneal opacity Hyperlordosis Abnormality of the kidney Thin upper lip vermilion Osteopenia Thrombocytopenia Intrauterine growth retardation Myopia Prominent ear helix



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