Cognitive impairment, and Ischemic stroke

Diseases related with Cognitive impairment and Ischemic stroke

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


Top matches:

Medium match ABETA AMYLOIDOSIS, IOWA TYPE


Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Iowa type is a form of HCHWA (see this term) characterized by age of onset between 50-66 years of age, memory impairment, myoclonic jerks, expressive dysphagia, short-stepped gait, personality changes and lobar intracerebral hemorrhages.

ABETA AMYLOIDOSIS, IOWA TYPE Is also known as abetad23n amyloidosis|hchwa, iowa type|hereditary cerebral hemorrhage with amyloidosis, iowa type

Related symptoms:

  • Gait disturbance
  • Dysphagia
  • Behavioral abnormality
  • Dementia
  • Myoclonus


SOURCES: ORPHANET MENDELIAN

More info about ABETA AMYLOIDOSIS, IOWA TYPE

Medium match MOYAMOYA DISEASE


Moyamoya disease (MMD) is a rare intracranial arteriopathy involving progressive stenosis of the cerebral vasculature located at the base of the brain causing transient ischemic attacks or strokes.

MOYAMOYA DISEASE Is also known as idiopathic moyamoya disease

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ventriculomegaly
  • Headache
  • Mental deterioration


SOURCES: ORPHANET OMIM MENDELIAN

More info about MOYAMOYA DISEASE

Medium match DYSTONIA 16


Dystonia 16 (DYT16) is a very rare and newly discovered movement disorder which is characterized by early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism.

DYSTONIA 16 Is also known as dyt16|early-onset dystonia parkinsonism

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Pain
  • Cognitive impairment
  • Delayed speech and language development


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about DYSTONIA 16

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Other less relevant matches:

Medium match FAMILIAL ATRIAL MYXOMA


Familial atrial myxoma is a rare, genetic cardiac tumor characterized by the presence of a primary, benign, gelatinous mass located in the atria and composed of primitive connective tissue cells and stroma (resembling mesenchyme) in several members of a family. Clinical presentation depends on the size, mobility and location of tumor, ranging from nonspecific and/or constitutional symptoms to sudden cardiac death, and includes dyspnea, hemoptisis, syncope, fatigue, fever, cutaneous rash, increases in venous pressure and/or peripheral edema.

FAMILIAL ATRIAL MYXOMA Is also known as atrial myxoma, familial

Related symptoms:

  • Seizures
  • Cognitive impairment
  • Fever
  • Atrial septal defect
  • Congestive heart failure


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about FAMILIAL ATRIAL MYXOMA

Medium 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

Medium match ABETA AMYLOIDOSIS, ITALIAN TYPE


Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Italian type is a form of HCHWA (see this term) characterized by an age of onset of 50 years of age, dementia and lobar intracerebral hemorrhage.

ABETA AMYLOIDOSIS, ITALIAN TYPE Is also known as hchwa, italian type|abetae22k amyloidosis|hereditary cerebral hemorrhage with amyloidosis, italian type

Related symptoms:

  • Seizures
  • Dementia
  • Mental deterioration
  • Stroke
  • Coma


SOURCES: ORPHANET MENDELIAN

More info about ABETA AMYLOIDOSIS, ITALIAN TYPE

Medium 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

Medium match CUTIS MARMORATA TELANGIECTATICA CONGENITA


Cutis marmorata telangiectatica congenita (CMTC) is a congenital localized or generalized vascular anomaly characterized by a persistent cutis marmorata pattern with a marbled bluish to deep purple appearance, spider nevus-like telangiectasia, phlebectasia and, occasionally, ulceration and atrophy of the affected skin.

CUTIS MARMORATA TELANGIECTATICA CONGENITA Is also known as megalencephaly-cutis marmorata telangiectatica congenita|cmtc|mcmtc|megalencephaly-capillary malformation syndrome|macrocephaly-cutis marmorata telangiectatica congenita|mcm|macrocephaly-capillary malformation

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CUTIS MARMORATA TELANGIECTATICA CONGENITA

Medium 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

Medium 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

Top 5 symptoms//phenotypes associated to Cognitive impairment and Ischemic stroke

Symptoms // Phenotype % cases
Stroke Very Common - Between 80% and 100% cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Cerebral hemorrhage Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cognitive impairment and Ischemic stroke. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Coma Behavioral abnormality Dementia Transient ischemic attack Ventriculomegaly Headache Migraine Paresthesia Dysphagia Arrhythmia Hypothyroidism Muscle cramps Easy fatigability Purpura Fever Dysarthria Congestive heart failure Dilatation Mitral valve prolapse Dystonia Gait disturbance Cataract Anemia Polymicrogyria Pain Hemiplegia Abnormality of the cerebral vasculature Mental deterioration Hemiparesis Involuntary movements

Rare Symptoms - Less than 30% cases


Bundle branch block Atrial fibrillation Abnormality of the nervous system Left ventricular hypertrophy Dysphasia Cortical dysplasia Anorexia Stroke-like episode Edema Ventricular hypertrophy Muscular hypotonia Failure to thrive Hypertelorism Growth delay Atrioventricular block Chronic kidney disease Sensory impairment Visual field defect Short stature Personality changes Hemianopia Exercise intolerance Delayed puberty Nephrotic syndrome Large earlobe Sensorineural hearing impairment Hypertension Peripheral neuropathy Optic atrophy Fatigue Respiratory insufficiency Cardiomyopathy Vomiting Diarrhea Renal insufficiency Depressivity Constipation Abdominal pain Dyspnea Myalgia Abnormality of the cardiovascular system Malabsorption Thick vermilion border Sudden cardiac death Nephropathy Nausea Vertigo Nausea and vomiting Reduced bone mineral density Anxiety Pruritus Abnormality of the renal tubule Telangiectasia of the skin Developmental regression Hypertrophic cardiomyopathy Proteinuria Progressive sensorineural hearing impairment Hearing impairment Syncope Tremor Ascites Chest pain Hematuria Limb pain Heart murmur Tricuspid regurgitation Limb dystonia Jaundice Tubulointerstitial nephritis Edema of the lower limbs Renal tubular dysfunction Xerostomia Abnormal pyramidal sign Confusion Hyperreflexia Elevated serum creatine phosphokinase Cerebellar atrophy Dysesthesia Intracranial hemorrhage Cerebellar hypoplasia Telangiectasia Hypertonia Memory impairment Myoclonus Hydrocephalus Glomerulopathy Motor delay Decreased glomerular filtration rate Nephrogenic diabetes insipidus Vascular tortuosity Photophobia Reduced sperm motility Distal renal tubular acidosis Increased blood urea nitrogen Apnea Gastroesophageal reflux Angiokeratoma Acidosis Autism Weight loss Obstructive lung disease Gait ataxia EEG abnormality Abnormality of temperature regulation Feeding difficulties in infancy Attention deficit hyperactivity disorder Ophthalmoplegia Microalbuminuria Arthrogryposis multiplex congenita Lethargy Primary hypothyroidism Generalized tonic-clonic seizures Biventricular hypertrophy Dilated cardiomyopathy Neurological speech impairment Conjunctival telangiectasia Abnormality of the pinna Supraventricular arrhythmia Abnormal endocardium morphology Abnormality of cardiovascular system physiology Abnormality of the liver Decreased female libido Vascular skin abnormality Retinal vascular tortuosity Erythema Corneal crystals Protruding ear Nyctalopia Tortuosity of conjunctival vessels Cerebral cortical atrophy Abnormality of glycosphingolipid metabolism Concentric hypertrophic cardiomyopathy Muscle weakness Mucosal telangiectasiae Unexplained fevers ST segment depression Nystagmus Functional abnormality of the gastrointestinal tract Ataxia Microcephaly Impaired renal concentrating ability Cornea verticillata Coronary artery stenosis Abnormal glomerular filtration rate Abnormality of the forehead Abnormality of the common coagulation pathway Increased glomerular filtration rate Abnormal ST segment Abnormal common carotid artery morphology Acroparesthesia Heavy proteinuria Tenesmus Left ventricular septal hypertrophy Hyperkeratotic papule Ptosis Feeding difficulties Diabetes mellitus Visual loss Impaired temperature sensation Hypogonadism Osteoporosis Rod-cone dystrophy Delayed skeletal maturation Hyposthenuria Hyporeflexia Areflexia Shortened QT interval Angiokeratoma corporis diffusum Encephalopathy Visual impairment Cerebral atrophy Kyphosis Abnormality of the dentition Decreased lacrimation Myopathy Shortened PR interval Blindness Respiratory distress Short neck Skeletal muscle atrophy Hepatomegaly Increased carotid artery intimal medial thickness Type I diabetes mellitus Congenital cataract Gait imbalance Aortic dissection Visual hallucinations Increased CSF lactate Wolff-Parkinson-White syndrome Cerebral ischemia Reduced consciousness/confusion Anterior hypopituitarism Cardiorespiratory arrest Seborrheic dermatitis Left ventricular failure Speech apraxia Retinal pigment epithelial atrophy Abnormality of peripheral nerve conduction Proximal tubulopathy Facial diplegia Delusions Episodic vomiting Hashimoto thyroiditis Abnormality of immune system physiology Primary adrenal insufficiency Pulmonary embolism Distal arthrogryposis Drowsiness Atopic dermatitis Abnormality of visual evoked potentials Posterior subcapsular cataract Neonatal hypoglycemia Vitiligo Heart block Hypoparathyroidism Mitochondrial myopathy Progressive external ophthalmoplegia Ileus Motor polyneuropathy Rhabdomyolysis Paralytic ileus Abnormal mitochondrial morphology Edema of the dorsum of hands Cochlear malformation Progressive night blindness Cochlear degeneration Abnormal mitochondrial shape Abnormal cochlea morphology Spotty hypopigmentation Homonymous hemianopia Abnormality of acid-base homeostasis Episodic quadriplegia Bilateral intracranial calcifications Morphological abnormality of the vestibule of the inner ear Morphological abnormality of the inner ear Paronychia Abnormal macular morphology Psychomotor deterioration Amaurosis fugax Muscle fiber atrophy Writer's cramp Persistence of primary teeth Leber optic atrophy Spontaneous hematomas Gastroparesis Auditory hallucinations Hemeralopia Abnormal nerve conduction velocity Renal Fanconi syndrome Tubulointerstitial abnormality Psychotic episodes Abnormality of the cerebellar vermis Crohn's disease Thyroiditis Hyperthyroidism Carious teeth Gingival overgrowth Type II diabetes mellitus Pulmonary arterial hypertension Status epilepticus Psychosis Hypertrichosis Decreased body weight Abnormality of retinal pigmentation Generalized-onset seizure Hallucinations Cerebral visual impairment Clonus Cardiac arrest Truncal ataxia EMG abnormality Bilateral sensorineural hearing impairment Pigmentary retinopathy Hypogonadotrophic hypogonadism Polyneuropathy Anal atresia Dysmetria Ichthyosis Peripheral axonal neuropathy Lactic acidosis Hirsutism Postural instability Cerebral calcification Abnormal cerebellum morphology Generalized myoclonic seizures Increased serum lactate Hip dysplasia Specific learning disability Amenorrhea Generalized hirsutism Macular degeneration Basal ganglia calcification Overlapping toe Aplasia/Hypoplasia of the cerebellum Bifid scrotum Mask-like facies Hemiplegia/hemiparesis Focal segmental glomerulosclerosis Abnormality of neuronal migration Adrenal insufficiency Ophthalmoparesis Aphasia Vestibular dysfunction Hyperkalemia Prolonged QT interval Multiple lipomas Vertebral fusion Intestinal obstruction Hyponatremia Pancreatitis Goiter External ophthalmoplegia Reduced tendon reflexes Ragged-red muscle fibers Hypopigmented skin patches Mutism Schizophrenia Hyperkinesis Abnormality of mitochondrial metabolism Growth abnormality Cachexia Decreased nerve conduction velocity Hypercalciuria Bilateral ptosis Aortic aneurysm Abnormal cornea morphology Abnormality of the hand Abnormal thrombosis Microphthalmia Finger syndactyly Leukemia Broad forehead Postnatal growth retardation Joint laxity Deeply set eye High forehead Polydactyly Abnormal heart morphology Patent ductus arteriosus Hernia Abnormality of cardiovascular system morphology Syndactyly Smooth philtrum Ventricular septal defect Frontal bossing Downslanted palpebral fissures Macrocephaly Intrauterine growth retardation Wide nasal bridge Epicanthus Depressed nasal bridge Low-set ears Micrognathia Neoplasm Scoliosis Toe syndactyly Oral cleft Antenatal intracerebral hemorrhage Redundant skin Capillary hemangioma Severe failure to thrive Severe postnatal growth retardation Arnold-Chiari type I malformation Nevus flammeus Syringomyelia Multiple cafe-au-lait spots Aplasia/Hypoplasia of the skin Abnormality of digit Large for gestational age Cutis marmorata Nephroblastoma Arnold-Chiari malformation Joint hypermobility Hemangioma Cutis laxa Cutaneous syndactyly Shock Multicystic kidney dysplasia Postaxial hand polydactyly Overgrowth Abnormality of the skin Vesicoureteral reflux Nevus Retinal detachment Postaxial polydactyly Generalized hypotonia Spastic hemiparesis Meningioma Generalized dystonia Exertional dyspnea Neoplasm of the skin Cholestasis Cardiomegaly Abnormality of skin pigmentation Atrial septal defect Retrocollis Facial grimacing Lower limb pain Laryngeal dystonia Orofacial dyskinesia Morphological abnormality of the pyramidal tract Akinesia Dilatation of the cerebral artery Postural tremor Language impairment Dysphonia Torticollis Bradykinesia Parkinsonism Dyskinesia Unsteady gait Rigidity Delayed speech and language development Carotid artery stenosis Abnormality of the vasculature Thromboembolism Growth hormone excess Perivascular spaces Leukoencephalopathy Schizencephaly Pontocerebellar atrophy Primitive reflex Porencephalic cyst Nuclear cataract Facial paralysis Hypoplasia of the iris Posterior embryotoxon Restlessness Opisthotonus Drooling Cerebral palsy Exotropia Subarachnoid hemorrhage Tetraparesis Renal cyst Hemolytic anemia Babinski sign Spasticity Strabismus Pulmonic valve myxoma Cardiac myxoma Bacterial endocarditis Increased inflammatory response Orthopnea Endocarditis Pulmonary edema Megalencephaly Varicose veins Tubulointerstitial fibrosis Emphysema Aortic root aneurysm Wheezing Renal tubular acidosis Glycosuria Abnormal heart valve morphology Celiac disease Orthostatic hypotension Interstitial pulmonary abnormality Elevated erythrocyte sedimentation rate Coronary artery atherosclerosis Impotence Loss of consciousness Anhidrosis Abnormal EKG Polyuria Diabetes insipidus Impaired vibratory sensation Clubbing Polydipsia Glomerulosclerosis Prominent supraorbital ridges Tinnitus Ventricular arrhythmia Corneal dystrophy Progressive hearing impairment Abnormal intestine morphology Abnormality of lipid metabolism Elevated serum creatinine Ventricular tachycardia Abnormality of the nose Chronic pain Abnormal renal physiology Miosis T-wave inversion Abnormal aortic valve morphology Gastrointestinal dysmotility Periorbital fullness Abnormal mitral valve morphology Asymmetric septal hypertrophy High-frequency hearing impairment Abnormal myocardium morphology Restrictive cardiomyopathy Abnormality of femur morphology Tubular atrophy Chronic fatigue Myocardial fibrosis Sinus bradycardia Achalasia Chronic obstructive pulmonary disease Angina pectoris Clubbing of fingers Peripheral arterial stenosis Reduced ejection fraction Heat intolerance Supraventricular tachycardia Oligospermia Abnormality of the gastrointestinal tract Aortic regurgitation Hyperlipidemia Abnormality of the lower limb Capillary malformation Hyperkeratosis Hyperhidrosis Posteriorly rotated ears Midface retrusion Blue nevus Cutis marmorata telangiectatica congenita Vascular ring Displacement of the external urethral meatus Progressive macrocephaly Leukocoria Hemimegalencephaly Facial hemangioma Short lower limbs Arthralgia Subcutaneous hemorrhage Perisylvian polymicrogyria Asymmetric growth Right aortic arch Skin erosion Arterial stenosis Cavum septum pellucidum Dilation of lateral ventricles Atrial flutter Abnormality of the upper limb Hemihypertrophy Arteriovenous malformation Mandibular prognathia Coarse facial features Aminoaciduria Hypotension Spontaneous abortion Abnormal autonomic nervous system physiology Fasciculations Bradycardia Lymphedema Hypohidrosis Subcutaneous nodule Abnormal lung morphology Mitral regurgitation Palpitations Myocardial infarction Thick lower lip vermilion Urinary incontinence Carcinoma Abdominal distention Thick eyebrow Bulbous nose Tachycardia Stage 5 chronic kidney disease Abnormality of the cerebral white matter Papule Corneal opacity Prominent nasal bridge Cough Skin rash Abnormality of the kidney Arthritis Prominent ear helix



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