Peripheral neuropathy, and Stroke

Diseases related with Peripheral neuropathy and Stroke

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


Top matches:

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

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 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

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Low 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

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 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 HOMOCYSTINURIA DUE TO METHYLENE TETRAHYDROFOLATE REDUCTASE DEFICIENCY


Homocystinuria due to methylene tetrahydrofolate reductase (MTHFR) deficiency is a metabolic disorder characterised by neurological manifestations.

HOMOCYSTINURIA DUE TO METHYLENE TETRAHYDROFOLATE REDUCTASE DEFICIENCY Is also known as methylenetetrahydrofolate reductase deficiency|mthfr deficiency|methylene tetrahydrofolate reductase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about HOMOCYSTINURIA DUE TO METHYLENE TETRAHYDROFOLATE REDUCTASE DEFICIENCY

Low match FRAGILE X-ASSOCIATED TREMOR/ATAXIA SYNDROME


Fragile X-associated tremor/ataxia syndrome (FXTAS) is a rare neurodegenerative disorder characterized by adult-onset progressive intention tremor and gait ataxia.

FRAGILE X-ASSOCIATED TREMOR/ATAXIA SYNDROME Is also known as fxtas syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about FRAGILE X-ASSOCIATED TREMOR/ATAXIA SYNDROME

Low match ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO


Ornithine transcarbamylase deficiency is an X-linked inborn error of metabolism of the urea cycle which causes hyperammonemia. The disorder is treatable with supplemental dietary arginine and low protein diet.Urea cycle disorders are characterized by the triad of hyperammonemia, encephalopathy, and respiratory alkalosis. Five disorders involving different defects in the biosynthesis of the enzymes of the urea cycle have been described: OTC deficiency, carbamyl phosphate synthetase deficiency (OMIM ), argininosuccinate synthetase deficiency, or citrullinemia (OMIM ), argininosuccinate lyase deficiency (OMIM ), and arginase deficiency (OMIM ).

ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO Is also known as ornithine carbamoyltransferase deficiency|otc deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ataxia
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO

Top 5 symptoms//phenotypes associated to Peripheral neuropathy and Stroke

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Paresthesia Uncommon - Between 30% and 50% cases
Headache Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Coma Ataxia Transient ischemic attack Pain Hypertension Dysarthria Vertigo Abnormality of the cerebral vasculature Myocardial infarction Behavioral abnormality

Rare Symptoms - Less than 30% cases


Encephalopathy Abnormal cerebellum morphology Intention tremor Hemiparesis Episodic ataxia Proximal muscle weakness Dysphagia Abnormal bleeding Impotence Abnormal platelet aggregation Splenomegaly Bruising susceptibility Chest pain Muscle weakness Venous thrombosis Cerebral atrophy Myelodysplasia Gait disturbance Thrombocytosis Arterial thrombosis Confusion Mental deterioration Thromboembolism Spasticity Paraparesis Failure to thrive Irritability Impaired platelet aggregation Dysmetria Gait ataxia Dementia Migraine Cerebral hemorrhage Optic neuropathy Peripheral arterial stenosis Hearing impairment Nystagmus Tremor Edema Blindness Vomiting Intellectual disability, mild Depressivity Lethargy Anteverted nares Abnormality of the cerebral white matter Autism Hyperammonemia Hypothyroidism Rigidity Myalgia Anxiety Aggressive behavior Acute hepatic failure Paranoia Abnormality of movement Cerebral cortical atrophy Distal sensory impairment Postural instability Parkinsonism Progressive cerebellar ataxia Brain atrophy Urinary incontinence Hypotension Memory impairment Bradykinesia Limb ataxia Oroticaciduria Hyporeflexia Abnormal autonomic nervous system physiology Hypsarrhythmia Aciduria Limb muscle weakness Episodic ammonia intoxication Pancreatitis Waddling gait Epileptic encephalopathy Gliosis Hyperglutaminemia Protein avoidance Hypoargininemia Progressive neurologic deterioration Cerebellar atrophy Hallucinations Respiratory alkalosis Incoordination Poor suck Coronary artery atherosclerosis Delusions Homocystinuria Hyperhomocystinemia Cognitive impairment Hyperreflexia Horizontal nystagmus Spastic paraparesis Abnormality of cardiovascular system morphology Polydactyly Dysesthesia Carcinoma Saccadic smooth pursuit Severe global developmental delay Poor fine motor coordination Pollakisuria Abnormality of brainstem morphology Thin upper lip vermilion Abnormal nerve conduction velocity Impaired distal vibration sensation Diffuse cerebellar atrophy Disinhibition Obsessive-compulsive trait Retrocollis Abnormal heart morphology Hypospadias Inertia Subcortical dementia Impaired tandem gait Growth delay Depressed nasal bridge Epicanthus Kinetic tremor Smooth philtrum Dysdiadochokinesis Episodic vomiting Premature ovarian insufficiency Apathy Obsessive-compulsive behavior Postural tremor Mask-like facies Agitation Thick lower lip vermilion Global brain atrophy Bowel incontinence Abnormality of the thyroid gland Resting tremor Astrocytosis Atrophy/Degeneration affecting the brainstem Bipolar affective disorder Urinary bladder sphincter dysfunction Postaxial polydactyly Hepatic failure Action tremor Cerebral edema Alkalosis Diffuse cerebral atrophy Olivopontocerebellar atrophy Wide nasal base Abnormality of the elbow Attention deficit hyperactivity disorder Cutis marmorata Migraine with aura Phonophobia Borderline personality disorder Migraine without aura Personality disorder Transient unilateral blurring of vision Thrombocytopenia Gastroesophageal reflux Retinopathy Ischemic stroke Abnormality of the vasculature Restlessness Raynaud phenomenon Achalasia Moyamoya phenomenon Hepatomegaly Abnormality of the skeletal system Respiratory distress Dyspnea Hepatosplenomegaly Leukemia Lymphoma Leukocytosis Drowsiness Severe hearing impairment Myeloid leukemia Fever Sensory impairment Dilatation Aortic valve stenosis Atherosclerosis Hypercholesterolemia Aortic aneurysm Xanthelasma Corneal arcus Supravalvular aortic stenosis Delayed speech and language development Photophobia Blurred vision Intellectual disability, moderate Developmental regression Autistic behavior Nausea Apraxia Diplopia Tinnitus Hemiplegia Loss of consciousness Aphasia Dysphasia Prolonged bleeding time Pulmonary embolism Apnea Intraventricular hemorrhage Osteoarthritis Intracranial hemorrhage Arthropathy Joint swelling Dyschromatopsia Prolonged partial thromboplastin time Stomatitis Joint hemorrhage Spontaneous hematomas Reduced factor VIII activity Persistent bleeding after trauma Hematuria Intramuscular hematoma Oral cavity bleeding Bleeding with minor or no trauma Splenic rupture Generalized hypotonia Microcephaly Scoliosis Hypoplasia of the corpus callosum Intellectual disability, severe Hyperactivity Abnormality of the nervous system Gastrointestinal hemorrhage Muscular dystrophy Acrocyanosis Hyperhidrosis Gangrene Acute leukemia Abnormal thrombocyte morphology Myeloproliferative disorder Amaurosis fugax Abnormality of bone marrow cell morphology Myelofibrosis Bloody diarrhea Abnormal platelet morphology Decreased mean platelet volume Increased megakaryocyte count Weight loss Arthritis Pruritus Syncope Pulmonary arterial hypertension Spontaneous abortion Visual field defect Acute myeloid leukemia Cerebral ischemia Chronic myelogenous leukemia Anemia Flexion contracture Arthralgia Low plasma citrulline



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Arthritis and Short distal phalanx of finger, related diseases and genetic alterations Ptosis and Diarrhea, related diseases and genetic alterations Obesity and Atopic dermatitis, related diseases and genetic alterations Cognitive impairment and Premature birth, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more