Anemia, and Ischemic stroke

Diseases related with Anemia and Ischemic stroke

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


Top matches:

Medium 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

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

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Other less relevant matches:

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

Medium match TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1; HHT1


Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular dysplasia leading to telangiectases and arteriovenous malformations of skin, mucosa, and viscera. Epistaxis and gastrointestinal bleeding are frequent complications of mucosal involvement. Visceral involvement includes that of the lung, liver, and brain. The most frequent form of hereditary hemorrhagic telangiectasia maps to the long arm of chromosome 9. Genetic Heterogeneity of Hereditary Hemorrhagic TelangiectasiaSee also HHT2 (OMIM ), caused by mutation in the ALK1 gene (ACVRL1 ) on chromosome 12q13; HHT3 (OMIM ), mapped to chromosome 5q31; HHT4 (OMIM ), mapped to chromosome 7p14; and HHT5 (OMIM ), caused by mutation in the GDF2 gene (OMIM ) on chromosome 10q11.See also juvenile polyposis/HHT syndrome (OMIM ), caused by mutation in the SMAD4 gene (OMIM ).

TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1; HHT1 Is also known as telangiectasia, hereditary hemorrhagic, of rendu, osler, and weber|orw disease|hht|osler-rendu-weber disease

Related symptoms:

  • Seizures
  • Anemia
  • Hypertension
  • Congestive heart failure
  • Headache


SOURCES: OMIM MENDELIAN

More info about TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1; HHT1

Medium match METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-COA MUTASE DEFICIENCY


Methylmalonic aciduria is a genetically heterogeneous disorder of methylmalonate and cobalamin (cbl; vitamin B12) metabolism. Isolated methylmalonic aciduria is found in patients with mutations in the MUT gene causing partial, mut(-), or complete, mut(0), enzyme deficiency. This form is unresponsive to B12 therapy. Various forms of isolated methylmalonic aciduria also occur in a subset of patients with defects in the synthesis of the MUT coenzyme adenosylcobalamin (AdoCbl) and are classified according to complementation group: cblA (OMIM ), caused by mutation in the MMAA gene (OMIM ) on chromosome 4q31, and cblB (OMIM ), caused by mutation in the MMAB gene (OMIM ) on 12q24.Combined methylmalonic aciduria and homocystinuria may be seen in complementation groups cblC (OMIM ), cblD (OMIM ), and cblF (OMIM ).See the comprehensive review of Ledley (1990).

METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-COA MUTASE DEFICIENCY Is also known as methylmalonic acidemia due to methylmalonyl-coa mutase deficiency mma due to mcm deficiency|methylmalonic aciduria, mut type

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-COA MUTASE DEFICIENCY

Medium match PROPIONIC ACIDEMIA


Propionic acidemia (PA) is an organic aciduria caused by the deficient activity of the propionyl Coenzyme A carboxylase and is characterized by life threatening episodes of metabolic decompensation, neurological dysfunction and that may be complicated by cardiomyopathy.

PROPIONIC ACIDEMIA Is also known as glycinemia, ketotic|ketotic hyperglycinemia|propionyl-coa carboxylase deficiency|propionic aciduria|pcc deficiency|hyperglycinemia with ketoacidosis and leukopenia

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about PROPIONIC ACIDEMIA

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 PAROXYSMAL NOCTURNAL HEMOGLOBINURIA


Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired clonal hematopoietic stem cell disorder characterized by corpuscular hemolytic anemia, bone marrow failure and frequent thrombotic events.

PAROXYSMAL NOCTURNAL HEMOGLOBINURIA Is also known as marchiafava-micheli disease|pnh

Related symptoms:

  • Muscle weakness
  • Fatigue
  • Dysphagia
  • Abdominal pain
  • Pallor


SOURCES: ORPHANET OMIM MENDELIAN

More info about PAROXYSMAL NOCTURNAL HEMOGLOBINURIA

Top 5 symptoms//phenotypes associated to Anemia and Ischemic stroke

Symptoms // Phenotype % cases
Stroke Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Hypertension Common - Between 50% and 80% cases
Transient ischemic attack Common - Between 50% and 80% cases
Fever Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Pain Abdominal pain Dystonia Pancytopenia Hepatomegaly Headache Optic atrophy Vomiting Hemiplegia Intellectual disability Global developmental delay Cardiomyopathy Fatigue Cerebral hemorrhage Dyspnea Dilatation Respiratory insufficiency Pancreatitis Hematuria Developmental regression Constipation Muscle cramps Hemiparesis Arrhythmia Ataxia Peripheral neuropathy Acidosis Short stature Immunodeficiency Lethargy Renal insufficiency Nephropathy Myalgia Abnormality of the liver Nausea and vomiting Purpura Congestive heart failure Encephalopathy Nausea Failure to thrive Coma Tubulointerstitial nephritis Cognitive impairment Clubbing Delayed puberty Pulmonary arterial hypertension Cataract Conjunctival telangiectasia Migraine

Rare Symptoms - Less than 30% cases


Aciduria Dehydration Pulmonary embolism Hyperammonemia Ketonuria Organic aciduria Hyperglycinemia Methylmalonic aciduria Gastrointestinal hemorrhage Tubulointerstitial abnormality Cerebellar hemorrhage Cirrhosis Feeding difficulties Cerebral atrophy Heart murmur Postural instability Stage 5 chronic kidney disease Metabolic acidosis Subarachnoid hemorrhage Visual loss Hematemesis Generalized hypotonia Melena Muscular hypotonia Hematochezia Respiratory distress Polycythemia Cyanosis Thrombocytopenia Diabetes mellitus Telangiectasia Abnormality of the kidney Neurological speech impairment Epistaxis Apnea Osteoporosis Jaundice Feeding difficulties in infancy Glomerulopathy Anorexia Exercise intolerance Easy fatigability Atrioventricular block Chronic kidney disease Personality changes Bundle branch block Progressive sensorineural hearing impairment Xerostomia Myocardial infarction Renal tubular dysfunction Dysphagia Angina pectoris Muscle weakness Abnormal renal physiology Abnormal thrombosis Abnormality of the renal tubule Dysesthesia Left ventricular hypertrophy Atrial fibrillation Cerebral arteriovenous malformation Anxiety Dysarthria Abnormality of immune system physiology Episodic vomiting Hearing impairment Sensorineural hearing impairment Diarrhea Depressivity Hypothyroidism Proteinuria Ventricular hypertrophy Hypertrophic cardiomyopathy Pruritus Malabsorption Paresthesia Vertigo Sudden cardiac death Abnormality of the cardiovascular system Nephrotic syndrome Spontaneous, recurrent epistaxis Lactic acidosis Papule Elevated erythrocyte sedimentation rate Right-to-left shunt Arthritis Tetraparesis Mitral valve prolapse Hypercoagulability Fingerpad telangiectases Thrombocytosis Aphasia Cerebellar atrophy Stroke-like episode Leukopenia Lip telangiectasia Elevated serum creatine phosphokinase Skin rash Gastrointestinal angiodysplasia Decreased antibody level in blood Hemianopia Ophthalmoplegia Hypertonia Brain abscess Visual field defect Dysphasia Polymicrogyria Nail bed telangiectasia Palate telangiectasia Tongue telangiectasia Nasal mucosa telangiectasia Hepatic arteriovenous malformation Pulmonary arteriovenous malformation Cerebellar hypoplasia Gastrointestinal telangiectasia Gastrointestinal arteriovenous malformation Ventriculomegaly Spinal arteriovenous malformation Hemolytic anemia Aplastic anemia Abnormality of the pinna Protruding ear Gastroesophageal reflux Photophobia Generalized tonic-clonic seizures Erythema Dilated cardiomyopathy Attention deficit hyperactivity disorder EEG abnormality Nyctalopia Mental deterioration Left ventricular failure Anal atresia Arthrogryposis multiplex congenita Memory impairment Morphological abnormality of the inner ear Psychosis Status epilepticus Type II diabetes mellitus Bilateral sensorineural hearing impairment Prominent ear helix Pallor Generalized-onset seizure Pigmentary retinopathy Cerebral calcification Amenorrhea Specific learning disability Hip dysplasia Increased serum lactate Congenital cataract Sensory impairment Generalized myoclonic seizures Abnormal cerebellum morphology Polyneuropathy Hirsutism Peripheral axonal neuropathy Ichthyosis Confusion Hypoplastic anemia Dysmetria Weight loss Carious teeth Abnormal bleeding Autism Rod-cone dystrophy Gait ataxia Abnormality of the forehead Increased glomerular filtration rate Increased carotid artery intimal medial thickness Abnormal ST segment Abnormal common carotid artery morphology Acroparesthesia Acute myeloid leukemia Heavy proteinuria Tenesmus Left ventricular septal hypertrophy Tortuosity of conjunctival vessels Hyperkeratotic papule Abnormality of glycosphingolipid metabolism Abnormal glomerular filtration rate Impaired renal concentrating ability Functional abnormality of the gastrointestinal tract ST segment depression Unexplained fevers Mucosal telangiectasiae Concentric hypertrophic cardiomyopathy Coronary artery stenosis Shortened PR interval Decreased lacrimation Angiokeratoma corporis diffusum Shortened QT interval Abnormality of the common coagulation pathway Cornea verticillata Cerebral cortical atrophy Short neck Hypogonadism Myoclonus Dementia Bone marrow hypocellularity Delayed skeletal maturation Hyporeflexia Areflexia Kyphosis Abnormality of the dentition Myopathy Blindness Myelodysplasia Microcephaly Gait disturbance Tremor Skeletal muscle atrophy Hyperreflexia Motor delay Visual impairment Ptosis Thromboembolism Nystagmus Hypertelorism Growth delay Morphological abnormality of the vestibule of the inner ear Truncal ataxia Hypertrichosis Primary adrenal insufficiency Psychomotor deterioration Muscle fiber atrophy Writer's cramp Persistence of primary teeth Leber optic atrophy Spontaneous hematomas Gastroparesis Amaurosis fugax Auditory hallucinations Abnormal nerve conduction velocity Renal Fanconi syndrome Thyroiditis Ileus Hemoglobinuria Rhabdomyolysis Impaired temperature sensation Hyperthyroidism Psychotic episodes Basal ganglia calcification Abnormality of the cerebellar vermis Vertebral fusion Multiple lipomas Prolonged QT interval Hyperkalemia Motor polyneuropathy Proximal tubulopathy Vestibular dysfunction Facial diplegia Retinal pigment epithelial atrophy Abnormality of peripheral nerve conduction Seborrheic dermatitis Anterior hypopituitarism Gait imbalance Reduced consciousness/confusion Cerebral ischemia Wolff-Parkinson-White syndrome Increased CSF lactate Visual hallucinations Aortic dissection Cardiorespiratory arrest Distal arthrogryposis Delusions Posterior subcapsular cataract Progressive external ophthalmoplegia Mitochondrial myopathy Hypoparathyroidism Heart block Vitiligo Neonatal hypoglycemia Abnormality of visual evoked potentials Hashimoto thyroiditis Atopic dermatitis Drowsiness Crohn's disease Adrenal insufficiency Bilateral intracranial calcifications EMG abnormality Ragged-red muscle fibers Reduced tendon reflexes External ophthalmoplegia Cochlear degeneration Abnormal mitochondrial shape Macular degeneration Paralytic ileus Type I diabetes mellitus Hypogonadotrophic hypogonadism Generalized hirsutism Abnormal cochlea morphology Homonymous hemianopia Progressive night blindness Abnormality of acid-base homeostasis Speech apraxia Cardiac arrest Clonus Cerebral visual impairment Hallucinations Abnormality of retinal pigmentation Episodic quadriplegia Gingival overgrowth Decreased body weight Involuntary movements Hypopigmented skin patches Mutism Overlapping toe Ophthalmoparesis Hemeralopia Abnormal macular morphology Spotty hypopigmentation Abnormality of neuronal migration Focal segmental glomerulosclerosis Hemiplegia/hemiparesis Mask-like facies Paronychia Bifid scrotum Aplasia/Hypoplasia of the cerebellum Intestinal obstruction Abnormal mitochondrial morphology Schizophrenia Hyponatremia Abnormality of mitochondrial metabolism Aortic aneurysm Bilateral ptosis Hypercalciuria Decreased nerve conduction velocity Edema of the dorsum of hands Cachexia Cochlear malformation Growth abnormality Hyperkinesis Goiter Hyposthenuria Prominent supraorbital ridges Obstructive lung disease Arteriovenous fistulas of celiac and mesenteric vessels Delayed CNS myelination Macrocytic anemia Spastic tetraparesis Paraparesis Choreoathetosis Dilatation of celiac artery Dilatation of mesenteric artery Venous varicosities of celiac and mesenteric vessels Visual auras High-output congestive heart failure Coronary artery aneurysm Methylmalonic acidemia Hemangiomatosis Pulmonary hemorrhage Polycystic liver disease Focal sensory seizure Arteriovenous fistula Venous malformation Migraine with aura Hypoxemia Esophageal varix Abnormality of the vasculature Hemoptysis Homocystinuria Abnormal globus pallidus morphology Pericardial effusion Acute encephalopathy Hyperkeratosis Hyperhidrosis Posteriorly rotated ears Midface retrusion Behavioral abnormality Edema Propionicacidemia Intolerance to protein Propionyl-CoA carboxylase deficiency Increased level of hippuric acid in urine Hyperglycinuria Ketoacidosis Chronic metabolic acidosis Ketosis Limb hypertonia Poor appetite Tachypnea Eczema Overgrowth Neutropenia Muscular hypotonia of the trunk Hypoglycemia Recurrent infections Metabolic ketoacidosis Scleroderma Portal hypertension Arthralgia Intracranial hemorrhage Primitive reflex Porencephalic cyst Nuclear cataract Facial paralysis Hypoplasia of the iris Posterior embryotoxon Restlessness Limb dystonia Opisthotonus Cortical dysplasia Drooling Schizencephaly Cerebral palsy Leukoencephalopathy Exotropia Renal cyst Abnormal pyramidal sign Babinski sign Hydrocephalus Spasticity Strabismus Choriocapillaris atrophy Pneumonia Pontocerebellar atrophy Perivascular spaces Elevated alkaline phosphatase Raynaud phenomenon Atherosclerosis Ascites Central retinal artery occlusion Retinal arterial occlusion Lupus anticoagulant Pure red cell aplasia Panniculitis Antiphospholipid antibody positivity Erythema nodosum Granulocytopenia Immune dysregulation Combined immunodeficiency Spastic hemiparesis Agitation Leukocytosis Cutis marmorata Vasculitis Foot dorsiflexor weakness Lymphadenopathy Paraplegia Elevated hepatic transaminase Hepatosplenomegaly Splenomegaly Antenatal intracerebral hemorrhage Mandibular prognathia Coarse facial features Angiokeratoma Clubbing of fingers High-frequency hearing impairment Abnormal myocardium morphology Restrictive cardiomyopathy Abnormality of the nose Abnormality of femur morphology Chronic fatigue Myocardial fibrosis Sinus bradycardia Achalasia Chronic obstructive pulmonary disease Peripheral arterial stenosis Abnormal mitral valve morphology Reduced ejection fraction Heat intolerance Supraventricular tachycardia Large earlobe Oligospermia Abnormality of the gastrointestinal tract Tubular atrophy Elevated serum creatinine Edema of the lower limbs Abnormal EKG Abnormality of lipid metabolism Asymmetric septal hypertrophy Periorbital fullness Wheezing Decreased female libido Reduced sperm motility Increased blood urea nitrogen Distal renal tubular acidosis Vascular tortuosity Decreased glomerular filtration rate Nephrogenic diabetes insipidus Abnormality of temperature regulation Limb pain Corneal crystals Retinal vascular tortuosity Vascular skin abnormality Abnormality of cardiovascular system physiology Gastrointestinal dysmotility Abnormal endocardium morphology Biventricular hypertrophy Primary hypothyroidism Microalbuminuria Supraventricular arrhythmia Abnormal cornea morphology Tubulointerstitial fibrosis Chronic pain Miosis T-wave inversion Abnormal aortic valve morphology Aortic root aneurysm Renal tubular acidosis Carcinoma Urinary incontinence Abnormal autonomic nervous system physiology Fasciculations Bradycardia Lymphedema Hypohidrosis Subcutaneous nodule Abnormal lung morphology Mitral regurgitation Palpitations Thick lower lip vermilion Hypotension Syncope Aminoaciduria Chest pain Abdominal distention Thick vermilion border Thick eyebrow Bulbous nose Tachycardia Abnormality of the cerebral white matter Corneal opacity Prominent nasal bridge Cough Abnormality of the nervous system Spontaneous abortion Hyperlipidemia Glycosuria Diabetes insipidus Abnormal heart valve morphology Telangiectasia of the skin Celiac disease Orthostatic hypotension Interstitial pulmonary abnormality Coronary artery atherosclerosis Impotence Loss of consciousness Emphysema Anhidrosis Polyuria Tricuspid regurgitation Ventricular tachycardia Impaired vibratory sensation Polydipsia Glomerulosclerosis Abnormality of the hand Tinnitus Ventricular arrhythmia Reduced bone mineral density Corneal dystrophy Progressive hearing impairment Abnormal intestine morphology Aortic regurgitation Cerebral artery stenosis



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Congestive heart failure and Schizophrenia, related diseases and genetic alterations Edema and Renal insufficiency, related diseases and genetic alterations Pain and Optic disc pallor, related diseases and genetic alterations Peripheral neuropathy and Pancytopenia, related diseases and genetic alterations Hypertelorism and Sudden cardiac death, related diseases and genetic alterations

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