Peripheral neuropathy, and Ischemic stroke

Diseases related with Peripheral neuropathy and Ischemic stroke

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


Top matches:

Medium match MOYAMOYA DISEASE WITH EARLY-ONSET ACHALASIA


Moyamoya disease with early-onset achalasia is an exceedingly rare autosomal recessive neurological disorder reported only in a few families so far. It is characterized by the association of early onset achalasia (manifesting in infancy) with severe intracranial angiopathy that is consistent with moyamoya angiopathy in most cases (moyamoya disease; see this term). Other variable associated manifestations include hypertension, Raynaud phenomenon, and livedo reticularis.

Related symptoms:

  • Seizures
  • Hypertension
  • Peripheral neuropathy
  • Dysphagia
  • Thrombocytopenia


SOURCES: ORPHANET OMIM MENDELIAN

More info about MOYAMOYA DISEASE WITH EARLY-ONSET ACHALASIA

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

Low match ABETAL34V AMYLOIDOSIS


Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Piedmont type is a form of HCHWA (see this term) characterized by an age of onset between 50-70 years of age, recurrent lobar intracerebral hemorrhages and cognitive decline.

ABETAL34V AMYLOIDOSIS Is also known as abetal34v-related amyloidosis|abeta amyloidosis, piedmont type|hchwa, piedmont type|hereditary cerebral hemorrhage with amyloidosis, piedmont type

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Behavioral abnormality
  • Dementia
  • Stroke


SOURCES: ORPHANET MENDELIAN

More info about ABETAL34V AMYLOIDOSIS

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Other less relevant matches:

Low 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

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 HYPERCHOLESTEROLEMIA, FAMILIAL


Familial hypercholesterolemia is an autosomal dominant disorder characterized by elevation of serum cholesterol bound to low density lipoprotein (LDL), which promotes deposition of cholesterol in the skin (xanthelasma), tendons (xanthomas), and coronary arteries (atherosclerosis). The disorder occurs in 2 clinical forms: homozygous and heterozygous (summary by Hobbs et al., 1992).

HYPERCHOLESTEROLEMIA, FAMILIAL Is also known as fh|ldl receptor disorder|hyper-low-density-lipoproteinemia|hypercholesterolemic xanthomatosis, familial|fhc|hyperlipoproteinemia, type iia|hyperlipoproteinemia, type ii

Related symptoms:

  • Pain
  • Peripheral neuropathy
  • Dilatation
  • Stroke
  • Myocardial infarction


SOURCES: OMIM MENDELIAN

More info about HYPERCHOLESTEROLEMIA, FAMILIAL

Low match ESSENTIAL THROMBOCYTHEMIA


Essential thrombocythemia (ET) is a myeloproliferative neoplasm (MPN, see this term) characterized by a sustained elevation of platelet number (> 450 x 109/L) with a tendency for thrombosis and hemorrhage.

ESSENTIAL THROMBOCYTHEMIA Is also known as thrombocytosis 1|essential thrombocytosis|et

Related symptoms:

  • Pain
  • Hypertension
  • Hepatomegaly
  • Abnormality of the skeletal system
  • Respiratory distress


SOURCES: ORPHANET OMIM MENDELIAN

More info about ESSENTIAL THROMBOCYTHEMIA

Low match FAMILIAL THROMBOCYTOSIS


Familial thrombocytosis is a type of thrombocytosis, a sustained elevation of platelet numbers, which affects the platelet/megakaryocyte lineage and may create a tendency for thrombosis and hemorrhage but does not cause myeloproliferation.

FAMILIAL THROMBOCYTOSIS Is also known as familial thrombocythemia|hereditary thrombocythemia

Related symptoms:

  • Seizures
  • Dysarthria
  • Splenomegaly
  • Headache
  • Hyperhidrosis


SOURCES: ORPHANET MENDELIAN

More info about FAMILIAL THROMBOCYTOSIS

Low match FAMILIAL PORENCEPHALY


Porencephaly is a term used for any cavitation or cerebrospinal fluid-filled cyst in the brain. One form, called encephaloclastic, or type 1, porencephaly, is usually unilateral and results from focal destructive lesions such as fetal vascular occlusion or birth trauma. Another form, called schizencephalic, or type 2, porencephaly, is usually symmetric and represents a primary defect or arrest in the development of the cerebral ventricles. Encephaloclastic porencephaly is more common (Airaksinen, 1984; Sensi et al., 1990). Genetic Heterogeneity of PorencephalySee also POREN2 (OMIM ), caused by mutation in the COL4A2 gene (OMIM ).

FAMILIAL PORENCEPHALY Is also known as t1p|porencephaly, type 1, autosomal dominant|adt1p|hemiplegia, infantile, with porencephaly porencephaly, type 1

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Strabismus
  • Cataract


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL PORENCEPHALY

Low match MIGRAINE, FAMILIAL HEMIPLEGIC, 2; FHM2


MIGRAINE, FAMILIAL HEMIPLEGIC, 2; FHM2 Is also known as mhp2

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about MIGRAINE, FAMILIAL HEMIPLEGIC, 2; FHM2

Top 5 symptoms//phenotypes associated to Peripheral neuropathy and Ischemic stroke

Symptoms // Phenotype % cases
Stroke Common - Between 50% and 80% cases
Transient ischemic attack Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Headache Common - Between 50% and 80% cases
Paresthesia Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Hemiplegia Pain Hypertension Hemiparesis Vertigo Anemia Dysarthria Dilatation Fever Intellectual disability Global developmental delay Cerebral hemorrhage Hearing impairment Aphasia Purpura Peripheral arterial stenosis Depressivity Vomiting Myocardial infarction Developmental regression Thrombocytosis Visual field defect Cognitive impairment Muscle cramps Cataract Nausea Chest pain Behavioral abnormality Dyspnea Coma Migraine Pruritus Dysphasia Myalgia Ataxia Hepatomegaly Splenomegaly Abdominal pain Optic atrophy Abnormality of the cerebral vasculature

Rare Symptoms - Less than 30% cases


Ventricular hypertrophy Spontaneous abortion Hypertonia Dystonia Arterial thrombosis Malabsorption Nausea and vomiting Anorexia Left ventricular hypertrophy Elevated serum creatine phosphokinase Cerebellar hypoplasia Atrial fibrillation Hematuria Photophobia Mitral valve prolapse Pulmonary arterial hypertension Abnormality of the cardiovascular system Exercise intolerance Syncope Delayed puberty Sudden cardiac death Gait ataxia Weight loss Polymicrogyria Nephropathy Abnormal cerebellum morphology Nephrotic syndrome Respiratory distress Cerebellar atrophy Glomerulopathy Pulmonary embolism Drowsiness Dysesthesia Abnormality of the renal tubule Cerebral ischemia Stroke-like episode Hemianopia Nystagmus Amaurosis fugax Tremor Renal tubular dysfunction Xerostomia Progressive sensorineural hearing impairment Myelodysplasia Bundle branch block Loss of consciousness Dysmetria Personality changes Chronic kidney disease Atrioventricular block Easy fatigability Tinnitus Ventriculomegaly Venous thrombosis Aortic aneurysm Blindness Tubulointerstitial nephritis Confusion Arrhythmia Congestive heart failure Restlessness Constipation Gastroesophageal reflux Leukocytosis Impaired platelet aggregation Renal insufficiency Fatigue Papule Diarrhea Edema Achalasia Abnormal bleeding Cutis marmorata Raynaud phenomenon Cardiomyopathy Hyperhidrosis Ophthalmoplegia Arthritis Abnormality of the liver Skin rash Dementia Sensory impairment Dysphagia Optic neuropathy Proteinuria Anxiety Respiratory insufficiency Hypothyroidism Elevated erythrocyte sedimentation rate Hepatosplenomegaly Hypertrophic cardiomyopathy Impotence Short stature Sensorineural hearing impairment Abnormal platelet aggregation Focal segmental glomerulosclerosis Abnormality of neuronal migration Leukoencephalopathy Hemiplegia/hemiparesis Mask-like facies Bifid scrotum Aplasia/Hypoplasia of the cerebellum Intestinal obstruction Ophthalmoparesis Hyponatremia Abnormality of mitochondrial metabolism Bilateral ptosis Hypercalciuria Decreased nerve conduction velocity Cachexia Overlapping toe Vertebral fusion Adrenal insufficiency Atopic dermatitis Posterior subcapsular cataract Progressive external ophthalmoplegia Mitochondrial myopathy Hypoparathyroidism Heart block Vitiligo Neonatal hypoglycemia Abnormality of visual evoked potentials Hashimoto thyroiditis Severe hearing impairment Vestibular dysfunction Distal arthrogryposis Primary adrenal insufficiency Abnormality of immune system physiology Thyroiditis Rhabdomyolysis Hyperthyroidism Basal ganglia calcification Multiple lipomas Prolonged QT interval Hyperkalemia Growth abnormality Hypogonadotrophic hypogonadism Hyperkinesis Specific learning disability Psychosis Status epilepticus Migraine without aura Type II diabetes mellitus Bilateral sensorineural hearing impairment Generalized-onset seizure Pigmentary retinopathy Cerebral calcification Amenorrhea Hip dysplasia Involuntary movements Memory impairment Increased serum lactate Generalized myoclonic seizures Personality disorder Postural instability Polyneuropathy Hirsutism Lactic acidosis Peripheral axonal neuropathy Ichthyosis Hypertrichosis Decreased body weight Episodic ataxia Type I diabetes mellitus Goiter Schizophrenia Mutism Hypopigmented skin patches Ragged-red muscle fibers Reduced tendon reflexes External ophthalmoplegia Pancreatitis Macular degeneration Migraine with aura Cardiorespiratory arrest Gingival overgrowth Phonophobia Generalized hirsutism EMG abnormality Borderline personality disorder Truncal ataxia Cardiac arrest Clonus Cerebral visual impairment Hallucinations Abnormality of retinal pigmentation Delusions Anterior hypopituitarism Facial diplegia Nuclear cataract Gangrene Acrocyanosis Myeloid leukemia Prolonged bleeding time Lymphoma Bruising susceptibility Leukemia Abnormality of the skeletal system Hypoplasia of the iris Facial paralysis Porencephalic cyst Abnormal thrombocyte morphology Supravalvular aortic stenosis Corneal arcus Xanthelasma Hypercholesterolemia Primitive reflex Atherosclerosis Aortic valve stenosis Pontocerebellar atrophy Morphological abnormality of the inner ear Morphological abnormality of the vestibule of the inner ear Bilateral intracranial calcifications Acute leukemia Myeloproliferative disorder Abnormality of acid-base homeostasis Hydrocephalus Exotropia Tetraparesis Renal cyst Cerebral palsy Hemolytic anemia Drooling Intracranial hemorrhage Abnormal pyramidal sign Cortical dysplasia Babinski sign Spasticity Abnormality of bone marrow cell morphology Strabismus Opisthotonus Limb dystonia Chronic myelogenous leukemia Acute myeloid leukemia Increased megakaryocyte count Posterior embryotoxon Decreased mean platelet volume Abnormal platelet morphology Bloody diarrhea Myelofibrosis Episodic quadriplegia Schizencephaly Aortic dissection Retinal pigment epithelial atrophy Persistence of primary teeth Writer's cramp Muscle fiber atrophy Psychomotor deterioration Motor polyneuropathy Episodic vomiting Autistic behavior Ileus Proximal tubulopathy Abnormality of peripheral nerve conduction Speech apraxia Spontaneous hematomas Left ventricular failure Seborrheic dermatitis Apraxia Gait imbalance Reduced consciousness/confusion Intention tremor Diplopia Wolff-Parkinson-White syndrome Blurred vision Increased CSF lactate Visual hallucinations Leber optic atrophy Gastroparesis Perivascular spaces Paronychia Homonymous hemianopia Abnormal cochlea morphology Spastic hemiparesis Paralytic ileus Abnormal mitochondrial shape Cochlear degeneration Antenatal intracerebral hemorrhage Progressive night blindness Cochlear malformation Edema of the dorsum of hands Abnormal mitochondrial morphology Spotty hypopigmentation Intellectual disability, moderate Abnormal macular morphology Delayed speech and language development Hemeralopia Intellectual disability, mild Crohn's disease Abnormality of the cerebellar vermis Psychotic episodes Tubulointerstitial abnormality Renal Fanconi syndrome Abnormal nerve conduction velocity Auditory hallucinations Prominent ear helix Growth delay Anal atresia Glomerulosclerosis Coronary artery atherosclerosis Emphysema Anhidrosis Polyuria Diabetes insipidus Tricuspid regurgitation Impaired vibratory sensation Clubbing Heart murmur Polydipsia Abnormality of the hand Orthostatic hypotension Prominent supraorbital ridges Ventricular arrhythmia Reduced bone mineral density Corneal dystrophy Progressive hearing impairment Abnormal intestine morphology Aortic regurgitation Ventricular tachycardia Hyperlipidemia Aminoaciduria Abnormal autonomic nervous system physiology Interstitial pulmonary abnormality Celiac disease Bradycardia Large earlobe Abnormality of the nose Abnormality of femur morphology Chronic fatigue Myocardial fibrosis Sinus bradycardia Chronic obstructive pulmonary disease Angina pectoris Clubbing of fingers Reduced ejection fraction Heat intolerance Supraventricular tachycardia Oligospermia Telangiectasia of the skin Abnormality of the gastrointestinal tract Tubular atrophy Elevated serum creatinine Edema of the lower limbs Abnormal EKG Abnormality of lipid metabolism Aortic root aneurysm Wheezing Renal tubular acidosis Glycosuria Abnormal heart valve morphology Fasciculations Lymphedema Abnormal myocardium morphology Leukopenia Lupus anticoagulant Pure red cell aplasia Panniculitis Antiphospholipid antibody positivity Erythema nodosum Granulocytopenia Immune dysregulation Hypercoagulability Combined immunodeficiency Agitation Vasculitis Central retinal artery occlusion Foot dorsiflexor weakness Pancytopenia Decreased antibody level in blood Lymphadenopathy Paraplegia Elevated hepatic transaminase Immunodeficiency Moyamoya phenomenon Abnormality of the vasculature Retinopathy Thrombocytopenia Retinal arterial occlusion Midface retrusion Hypohidrosis Tachycardia Subcutaneous nodule Abnormal lung morphology Mitral regurgitation Palpitations Thick lower lip vermilion Hypotension Urinary incontinence Abdominal distention Thick vermilion border Thick eyebrow Bulbous nose Stage 5 chronic kidney disease Posteriorly rotated ears Abnormality of the cerebral white matter Corneal opacity Prominent nasal bridge Cough Abnormality of the kidney Abnormality of the nervous system Carcinoma Coarse facial features Arthralgia Mandibular prognathia Hyperkeratosis Restrictive cardiomyopathy High-frequency hearing impairment Carious teeth Visual impairment Encephalopathy Cerebral atrophy Kyphosis Abnormality of the dentition Myopathy Short neck Gait disturbance Skeletal muscle atrophy Hyperreflexia Motor delay Feeding difficulties Areflexia Ptosis Muscular hypotonia Muscle weakness Failure to thrive Hypertelorism Microcephaly Cornea verticillata Abnormal glomerular filtration rate Abnormality of the common coagulation pathway Increased glomerular filtration rate Increased carotid artery intimal medial thickness Visual loss Hyporeflexia Abnormal common carotid artery morphology Feeding difficulties in infancy Congenital cataract Arthrogryposis multiplex congenita Lethargy Generalized tonic-clonic seizures Dilated cardiomyopathy Neurological speech impairment Attention deficit hyperactivity disorder Nyctalopia Erythema Protruding ear Abnormality of the pinna Mental deterioration Delayed skeletal maturation Apnea EEG abnormality Jaundice Acidosis Autism Cerebral cortical atrophy Diabetes mellitus Hypogonadism Osteoporosis Myoclonus Rod-cone dystrophy Abnormal ST segment Acroparesthesia Asymmetric septal hypertrophy Conjunctival telangiectasia Limb pain Corneal crystals Retinal vascular tortuosity Vascular skin abnormality Decreased female libido Abnormality of cardiovascular system physiology Abnormal endocardium morphology Biventricular hypertrophy Primary hypothyroidism Microalbuminuria Supraventricular arrhythmia Nephrogenic diabetes insipidus Abnormal cornea morphology Abnormal thrombosis Tubulointerstitial fibrosis Chronic pain Abnormal renal physiology Miosis T-wave inversion Abnormal aortic valve morphology Gastrointestinal dysmotility Periorbital fullness Abnormal mitral valve morphology Abnormality of temperature regulation Decreased glomerular filtration rate Heavy proteinuria Concentric hypertrophic cardiomyopathy Tenesmus Left ventricular septal hypertrophy Tortuosity of conjunctival vessels Hyperkeratotic papule Abnormality of the forehead Abnormality of glycosphingolipid metabolism Impaired renal concentrating ability Functional abnormality of the gastrointestinal tract ST segment depression Unexplained fevers Mucosal telangiectasiae Coronary artery stenosis Vascular tortuosity Shortened PR interval Decreased lacrimation Angiokeratoma corporis diffusum Shortened QT interval Hyposthenuria Impaired temperature sensation Obstructive lung disease Angiokeratoma Reduced sperm motility Increased blood urea nitrogen Distal renal tubular acidosis Transient unilateral blurring of vision



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