Abnormality of the skeletal system, and Ischemic stroke

Diseases related with Abnormality of the skeletal system and Ischemic stroke

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


Top matches:

Low match PROTEIN Z DEFICIENCY


Protein Z serves as a cofactor for the downregulation of coagulation by forming a complex with the protein Z-dependent protease inhibitor (ZPI ). Evidence also suggests that protein Z may promote the assembly of thrombin with phospholipid surfaces, thus enhancing coagulation. There is a wide variation of protein Z levels in human plasma, and studies have reported conflicting results of the clinical consequences of protein Z deficiency in humans. Most studies have reported an association between decreased protein Z levels and thrombosis, including stroke, venous thrombosis, and obstetric complications, although early reports suggested an association between protein Z deficiency and bleeding tendency (Kemkes-Matthes and Matthes, 1995). Overall, a role for protein Z in the pathogenesis of hemostatic disorders in humans is controversial and remains unclear (review by Broze, 2001 and Vasse, 2008).Protein Z deficiency has been shown to exacerbate the thrombotic phenotype in patients with thrombophilia due to factor V Leiden (see {188055}).

Related symptoms:

  • Stroke
  • Abnormal bleeding
  • Venous thrombosis
  • Ischemic stroke
  • Thromboembolism


SOURCES: OMIM MENDELIAN

More info about PROTEIN Z DEFICIENCY

Low match CARDIOMYOPATHY, DILATED, 1E; CMD1E


CARDIOMYOPATHY, DILATED, 1E; CMD1E Is also known as cdcd2|cardiomyopathy, dilated, with conduction defect 2|cardiomyopathy, dilated, with conduction disorder and arrhythmia

Related symptoms:

  • Cardiomyopathy
  • Congestive heart failure
  • Arrhythmia
  • Dyspnea
  • Stroke


SOURCES: MESH OMIM MENDELIAN

More info about CARDIOMYOPATHY, DILATED, 1E; CMD1E

Low 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

Mendelian

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

Learn more

Other less relevant matches:

Low 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

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 ISOVALERIC ACIDEMIA


Isovaleric acidemia (IVA) is an autosomal recessively inherited organic aciduria characterized by a deficiency in isovaleryl-CoA dehydrogenase, that has wide clinical variability and that can present in infancy with acute manifestations of vomiting, failure to thrive, seizures, lethargy, a characteristic ''sweaty feet'' odor, acute pancreatitis and mild to severe developmental delay or in childhood with metabolic acidosis (brought on by prolonged fasting, an increased intake of protein-rich food or infections) and that can be fatal if not treated immediately. Chronic intermittent presentations and asymptomatic patients have also been reported.

ISOVALERIC ACIDEMIA Is also known as ivd deficiency|isovaleric acid coa dehydrogenase deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Failure to thrive
  • Feeding difficulties
  • Hepatomegaly


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ISOVALERIC ACIDEMIA

Low match STROKE, ISCHEMIC


A stroke is an acute neurologic event leading to death of neural tissue of the brain and resulting in loss of motor, sensory and/or cognitive function. It is said to be the third leading cause of death in the United States. Gunel and Lifton (1996) noted that about 20% of strokes are hemorrhagic, resulting in bleeding into the brain. Ischemic strokes, resulting from vascular occlusion, account for the majority of strokes.Bersano et al. (2008) reviewed genetic polymorphisms that have been implicated in the development of stroke. Candidate genes include those involved in hemostasis (see, e.g., F5; {612309}), the renin-angiotensin-aldosterone system (see, e.g., ACE; {106180}), homocysteine (see, e.g., MTHFR; {607093}), and lipoprotein metabolism (see, e.g., APOE; {107741}).See also hemorrhagic stroke, or intracerebral hemorrhage (ICH ).

STROKE, ISCHEMIC Is also known as cerebral infarction|cerebrovascular accident

Related symptoms:

  • Stroke
  • Cerebral hemorrhage


SOURCES: OMIM MENDELIAN

More info about STROKE, ISCHEMIC

Low 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

Low match HANAC SYNDROME


Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome is characterised by the association of hematuria (without proteinuria) with extrarenal manifestations: retinal arterial tortuosities responsible for retinal haemorrhages, cardiac arrhythmia, Raynaud phenomena and congenital muscular contractures.

HANAC SYNDROME Is also known as hereditary angiopathy-nephropathy-aneurysms-muscle cramps syndrome|autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome

Related symptoms:

  • Seizures
  • Strabismus
  • Cataract
  • Flexion contracture
  • Visual impairment


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about HANAC SYNDROME

Low match FAMILIAL THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION


Familial thoracic aortic aneurysm and aortic dissection is a rare genetic vascular disease characterized by the familial occurrence of thoracic aortic aneurysm, dissection or dilatation affecting one or more aortic segments (aortic root, ascending aorta, arch or descending aorta) in the absence of any other associated disease. Depending on the size, location and progression rate of dilatation/dissection, patients may be asymptomatic or may present dyspnea, cough, jaw, neck, chest or back pain, head, neck or upper limb edema, difficulty swallowing, voice hoarseness, pale skin, faint pulse and/or numbness/tingling in limbs. Patients have increased risk of presenting life threatening aortic rupture.

FAMILIAL THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION Is also known as familial taad

Related symptoms:

  • Scoliosis
  • Hypertelorism
  • Hypertension
  • Dilatation
  • Patent ductus arteriosus


SOURCES: ORPHANET MENDELIAN

More info about FAMILIAL THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION

Top 5 symptoms//phenotypes associated to Abnormality of the skeletal system and Ischemic stroke

Symptoms // Phenotype % cases
Stroke Very Common - Between 80% and 100% cases
Seizures Uncommon - Between 30% and 50% cases
Cerebral hemorrhage Uncommon - Between 30% and 50% cases
Headache Uncommon - Between 30% and 50% cases
Transient ischemic attack Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Abnormality of the skeletal system and Ischemic stroke. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Dilatation of the cerebral artery Dilatation

Rare Symptoms - Less than 30% cases


Thrombocytopenia Global developmental delay Abnormality of the cerebral vasculature Exertional dyspnea Abnormality of the vasculature Cutis marmorata Involuntary movements Hemiparesis Cognitive impairment Hypertension Dysphagia Intellectual disability Subarachnoid hemorrhage Raynaud phenomenon Arrhythmia Cardiomegaly Congestive heart failure Thromboembolism Chest pain Syncope Abnormal bleeding Coma Atrial septal defect Visual impairment Flexion contracture Confusion Cerebellar atrophy Cataract Renal insufficiency Visual loss Strabismus Elevated serum creatine phosphokinase Nephropathy Pulmonic valve myxoma Behavioral abnormality Hematuria Jaundice Heart murmur Cardiac myxoma Endocarditis Easy fatigability Neoplasm of the skin Growth hormone excess Cholestasis Edema of the lower limbs Pulmonary edema Muscle cramps Abnormality of skin pigmentation Orthopnea Increased inflammatory response Mitral valve prolapse Ascites Bacterial endocarditis Tricuspid regurgitation Renal cyst Retinal hemorrhage Leukoencephalopathy Hypovolemia Coronary artery atherosclerosis Abnormality of the sternum Aortic root aneurysm Hemoptysis Aortic dissection Peripheral arterial stenosis Left ventricular failure Pneumothorax Thoracic aortic aneurysm Dural ectasia Bicuspid aortic valve Abdominal aortic aneurysm Ascending aortic dissection Prenatal maternal abnormality Abnormality of connective tissue Carotid artery dilatation Descending thoracic aorta aneurysm Abnormality iris morphology Descending aortic dissection Paroxysmal dyspnea Aortic aneurysm Aortic regurgitation Hemiplegia Perivascular spaces Posterior embryotoxon Hypoplasia of the iris Multiple renal cysts Microscopic hematuria Supraventricular arrhythmia Retinal vascular tortuosity Cerebellar hemorrhage Arterial tortuosity Macroscopic hematuria Retinal arteriolar tortuosity Tall stature Retinal arterial tortuosity Scoliosis Hypertelorism Patent ductus arteriosus Inguinal hernia Retrognathia Pes planus Arachnodactyly Bruising susceptibility High, narrow palate Fever Dehydration Episodic ketoacidosis Pain Third degree atrioventricular block Premature atrial contractions Atrial standstill Ventriculomegaly Mental deterioration Telangiectasia Intracranial hemorrhage Carotid artery stenosis Delayed speech and language development ST segment elevation Motor delay Hyperreflexia Dysarthria Tremor Gait disturbance Dystonia Rigidity Abnormal pyramidal sign Reduced systolic function Atrial arrhythmia Dyskinesia Sudden cardiac death Venous thrombosis Deep venous thrombosis Hypercoagulability Arterial thrombosis Capillary fragility Cardiomyopathy Dyspnea Dilated cardiomyopathy Atrial fibrillation Atrial flutter Palpitations Bradycardia Ventricular arrhythmia Atrioventricular block Right bundle branch block Heart block Ventricular extrasystoles Left bundle branch block Supraventricular tachycardia Unsteady gait Parkinsonism Methylmalonic acidemia Aciduria Failure to thrive Feeding difficulties Hepatomegaly Edema Vomiting Acidosis Lethargy Metabolic acidosis Pancytopenia Moyamoya phenomenon Bone marrow hypocellularity Leukopenia Ketoacidosis Organic aciduria Methylmalonic aciduria Cerebral edema Hyperglycinemia Abnormal myelination Hyperglycinuria Abnormal platelet aggregation Impaired platelet aggregation Bradykinesia Orofacial dyskinesia Torticollis Dysphonia Language impairment Postural tremor Akinesia Limb dystonia Generalized dystonia Morphological abnormality of the pyramidal tract Laryngeal dystonia Achalasia Lower limb pain Facial grimacing Limb pain Retrocollis Peripheral neuropathy Gastroesophageal reflux Retinopathy Impotence Optic neuropathy Cystic medial necrosis of the aorta



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Arthritis and Severe short stature, related diseases and genetic alterations Dysarthria and Encephalopathy, related diseases and genetic alterations Wide nasal bridge and Hemolytic anemia, related diseases and genetic alterations Brachydactyly and Aortic valve stenosis, related diseases and genetic alterations Cleft palate and Split hand, related diseases and genetic alterations Scoliosis and Stomach cancer, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more