Anemia, and Stroke

Diseases related with Anemia and Stroke

In the following list you will find some of the most common rare diseases related to Anemia and 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

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 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

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Other less relevant matches:

Low match STORMORKEN-SJAASTAD-LANGSLET SYNDROME


Stormorken-Sjaastad-Langslet syndrome is characterized by thrombocytopathy, asplenia, miosis, muscle fatigue, migraine, dyslexia, and ichthyosis. It has been described in six members of one family. It is transmitted as an autosomal dominant trait.

STORMORKEN-SJAASTAD-LANGSLET SYNDROME Is also known as thrombocytopathy-asplenia-miosis syndrome|york platelet syndrome|thrombocytopathy, asplenia, and miosis|yps|stormorken syndrome

Related symptoms:

  • Short stature
  • Muscle weakness
  • Anemia
  • Fatigue
  • Myopathy


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about STORMORKEN-SJAASTAD-LANGSLET SYNDROME

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 VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT-


Vitamin B12-unresponsive methylmalonic acidemia type mut- is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12.

VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT- Is also known as vitamin b12-unresponsive methylmalonic aciduria type mut-|partial deficiency of methylmalonyl-coa mutase

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Failure to thrive
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT-

Low match JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME; JPHT


The JPHT syndrome includes the features of both the juvenile polyposis syndrome (JPS ) and hereditary hemorrhagic telangiectasia (HHT ) in a single individual. JPS is characterized by hamartomatous polyps occurring throughout the gastrointestinal tract, resulting in an increased risk of gastrointestinal cancer, and HHT is a vascular dysplasia characterized by telangiectases of the skin, and oral and nasal mucosa, epistaxis, and arteriovenous malformations (AVMs) of the lungs, liver, brain, and gastrointestinal tract (summary by Gallione et al., 2010).

JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME; JPHT Is also known as jps/hht|polyposis, generalized juvenile, with pulmonary arteriovenous malformation|telangiectasia, hereditary hemorrhagic, with juvenile polyposis coli|juvenile polyposis with hereditary hemorrhagic telangiectasia|jp/hht syndrome

Related symptoms:

  • Neoplasm
  • Anemia
  • Ventriculomegaly
  • Dilatation
  • Visual loss


SOURCES: OMIM MENDELIAN

More info about JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME; JPHT

Low match HEREDITARY HEMORRHAGIC TELANGIECTASIA


Rendu-Osler-Weber disease, also called hereditary hemorrhagic telangiectasia (HHT), is a disorder of angiogenesis leading to arteriovenous dilatations: cutaneo-mucosal hemorrhagic telangiectasias and visceral shunting.

HEREDITARY HEMORRHAGIC TELANGIECTASIA Is also known as hht|rendu-osler disease|rendu-osler-weber disease

Related symptoms:

  • Seizures
  • Congestive heart failure
  • Cirrhosis
  • Hepatic failure
  • Hematuria


SOURCES: ORPHANET MENDELIAN

More info about HEREDITARY HEMORRHAGIC TELANGIECTASIA

Low match MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA


Mitochondrial myopathy and sideroblastic anemia belongs to the heterogeneous family of metabolic myopathies. It is characterised by progressive exercise intolerance manifesting in childhood, onset of sideroblastic anaemia around adolescence, lactic acidaemia, and mitochondrial myopathy.

MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA Is also known as msa|mlasa|myopathy, lactic acidosis and sideroblastic anemia|mitochondrial myopathy and sideroblastic anemia

Related symptoms:

  • Intellectual disability
  • Seizures
  • Microcephaly
  • Scoliosis
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA

Top 5 symptoms//phenotypes associated to Anemia and Stroke

Symptoms // Phenotype % cases
Seizures Uncommon - Between 30% and 50% cases
Subarachnoid hemorrhage Uncommon - Between 30% and 50% cases
Epistaxis Uncommon - Between 30% and 50% cases
Gastrointestinal hemorrhage Uncommon - Between 30% and 50% cases
Pulmonary arterial hypertension Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Muscle weakness Migraine Transient ischemic attack

Rare Symptoms - Less than 30% cases


Cerebral arteriovenous malformation Pulmonary arteriovenous malformation Pulmonary embolism Intellectual disability Myopathy Thromboembolism Hepatic arteriovenous malformation Spontaneous hematomas Dilatation Thrombocytopenia Muscular hypotonia Cirrhosis Cerebral hemorrhage Microcytic anemia Bruising susceptibility Hematuria Arthritis Mitochondrial myopathy Stroke-like episode Failure to thrive Pain Cavernous hemangioma Clubbing Hypertension Delayed puberty Splenomegaly Hemolytic anemia Telangiectasia Arteriovenous malformation Hemiparesis Conjunctival telangiectasia Fatigue Abdominal pain Abnormal bleeding Hematochezia Pallor Aortic dissection Joint hypermobility Telangiectasia of the skin Hemoptysis Abnormality of the cerebral vasculature Abnormality of extrapyramidal motor function Arrhythmia Visual loss Esophageal varix Intestinal polyposis Visceral angiomatosis Mitral valve prolapse Hamartomatous polyposis Mitral regurgitation Iron deficiency anemia Cholecystitis Portal hypertension Cholelithiasis Venous thrombosis Nephrolithiasis Hepatic failure Hemangioma Aortic aneurysm Gastrointestinal carcinoma Congestive heart failure Colon cancer Juvenile gastrointestinal polyposis Intrapulmonary shunt Amblyopia Hematemesis Abnormality of cardiovascular system physiology Increased serum lactate Edema Kyphosis Short nose Long philtrum Abnormality of metabolism/homeostasis Encephalopathy Myoclonus Glaucoma Acidosis Lactic acidosis Progressive muscle weakness Ptosis EMG abnormality Exercise intolerance Ragged-red muscle fibers Increased serum ferritin Distichiasis Sideroblastic anemia Hypochromic anemia Cytochrome C oxidase-negative muscle fibers Erythroid hyperplasia Generalized limb muscle atrophy High palate Micrognathia Peripheral arteriovenous fistula Gastrointestinal angiodysplasia Mucosal telangiectasiae Retinal telangiectasia Dyspnea Cyanosis Ischemic stroke Polycythemia Melena Neoplasm Spontaneous, recurrent epistaxis Lip telangiectasia Choriocapillaris atrophy Scoliosis Right-to-left shunt Brain abscess Spinal arteriovenous malformation Nasal mucosa telangiectasia Tongue telangiectasia Palate telangiectasia Nail bed telangiectasia Gastrointestinal telangiectasia Gastrointestinal arteriovenous malformation Fingerpad telangiectases Microcephaly Ventriculomegaly Dysarthria Hyperammonemia Proximal muscle weakness Hemoglobinuria Hypoplastic anemia Cerebral artery stenosis Short stature Headache Elevated serum creatine phosphokinase Severe short stature High forehead Deeply set eye Myalgia Abnormal renal physiology Skin rash Neurological speech impairment Limb muscle weakness Ichthyosis Prominent nose Hypotelorism Hypocalcemia Purpura Abnormality of coagulation Abnormal thrombosis Angina pectoris Asplenia Systemic lupus erythematosus Pneumonia Jaundice Heart murmur Respiratory tract infection Autoimmunity Lymphadenopathy Hepatitis Recurrent otitis media Lymphopenia Autoimmune hemolytic anemia Aplastic anemia Autoimmune thrombocytopenia Moderate global developmental delay Dysphagia Pancytopenia Myocardial infarction Bone marrow hypocellularity Myelodysplasia Acute myeloid leukemia Hypercoagulability Abnormality of the musculature Dyslexia Pancreatitis Dystonia Oral cavity bleeding Bleeding with minor or no trauma Splenic rupture Global developmental delay Feeding difficulties Hepatomegaly Optic atrophy Respiratory distress Cardiomyopathy Renal insufficiency Persistent bleeding after trauma Immunodeficiency Lethargy Nausea and vomiting Abnormality of movement Neutropenia Coma Dehydration Choreoathetosis Anorexia Intramuscular hematoma Intraventricular hemorrhage Abnormal thrombocyte morphology Arthralgia Miosis Increased muscle fatiguability Increased mean platelet volume Abnormal platelet morphology Upgaze palsy Congenital miosis Flexion contracture Peripheral neuropathy Blindness Muscular dystrophy Reduced factor VIII activity Osteoarthritis Intracranial hemorrhage Arthropathy Joint swelling Abnormality of the elbow Dyschromatopsia Prolonged partial thromboplastin time Stomatitis Joint hemorrhage Chronic lactic acidosis



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