Abnormality of the skeletal system, and Stroke

Diseases related with Abnormality of the skeletal system and Stroke

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


Top matches:

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 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

Low 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

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Other less relevant matches:

Low 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

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 HEMORRHAGE, INTRACEREBRAL, SUSCEPTIBILITY TO; ICH


HEMORRHAGE, INTRACEREBRAL, SUSCEPTIBILITY TO; ICH Is also known as stroke, hemorrhagic, susceptibility to

Related symptoms:

  • Seizures
  • Hypertension
  • Stroke
  • Lower limb muscle weakness
  • Type II diabetes mellitus


SOURCES: OMIM MESH MENDELIAN

More info about HEMORRHAGE, INTRACEREBRAL, SUSCEPTIBILITY TO; ICH

Low match MOYAMOYA DISEASE 5; MYMY5


Moyamoya disease is a cerebrovascular disorder caused by stenotic changes of terminal portions of the internal carotid arteries accompanied by surrounding fine arterial collateral vessels. These vascular networks resemble a 'puff of smoke' (Japanese: moyamoya) in angiographic imaging (summary by Roder et al., 2011).For a general phenotypic description and a discussion of genetic heterogeneity of moyamoya disease, see MYMY1 (OMIM ).

Related symptoms:

  • Dilatation
  • Stroke
  • Ascending tubular aorta aneurysm
  • Moyamoya phenomenon


SOURCES: OMIM MENDELIAN

More info about MOYAMOYA DISEASE 5; MYMY5

Low match ACYS AMYLOIDOSIS


Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Icelandic type is a form of HCHWA (see this term) characterized by an age of onset of 20-30 years, systemic amyloidosis and recurrent lobar intracerebral hemorrhages.

ACYS AMYLOIDOSIS Is also known as hereditary cerebral hemorrhage with amyloidosis, icelandic type|cystatin amyloidosis|cst3-related amyloidosis|hereditary cystatin c amyloid angiopathy|hchwa, icelandic type

Related symptoms:

  • Stroke
  • Cerebral hemorrhage
  • Amyloidosis
  • Cerebral amyloid angiopathy


SOURCES: ORPHANET MENDELIAN

More info about ACYS AMYLOIDOSIS

Low match ATRIAL FIBRILLATION, FAMILIAL, 11; ATFB11


Atrial fibrillation is the most common sustained cardiac rhythm disturbance, affecting more than 2 million Americans, with an overall prevalence of 0.89%. The prevalence increases rapidly with age, to 2.3% between the ages of 40 and 60 years, and to 5.9% over the age of 65. The most dreaded complication is thromboembolic stroke (Brugada et al., 1997).For a discussion of genetic heterogeneity of familial atrial fibrillation, see ATFB1 (OMIM ).

Related symptoms:

  • Stroke
  • Atrial fibrillation
  • Thromboembolic stroke


SOURCES: OMIM MENDELIAN

More info about ATRIAL FIBRILLATION, FAMILIAL, 11; ATFB11

Low match ATRIAL FIBRILLATION, FAMILIAL, 4; ATFB4


Atrial fibrillation is the most common sustained cardiac rhythm disturbance, affecting more than 2 million Americans, with an overall prevalence of 0.89%. The prevalence increases rapidly with age, to 2.3% between the ages of 40 and 60 years, and to 5.9% over the age of 65. The most dreaded complication is thromboembolic stroke (Brugada et al., 1997).For a discussion of genetic heterogeneity of atrial fibrillation, see {608583}.

Related symptoms:

  • Stroke
  • Atrial fibrillation
  • Palpitations
  • Paroxysmal atrial fibrillation
  • Thromboembolic stroke


SOURCES: MESH OMIM MENDELIAN

More info about ATRIAL FIBRILLATION, FAMILIAL, 4; ATFB4

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

Symptoms // Phenotype % cases
Cerebral hemorrhage Common - Between 50% and 80% cases
Dementia Uncommon - Between 30% and 50% cases
Hypertension Rare - less than 30% cases
Thromboembolic stroke Rare - less than 30% cases
Atrial fibrillation Rare - less than 30% cases
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Other less frequent symptoms

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

Rare Symptoms - Less than 30% cases


Migraine Seizures Coma Behavioral abnormality Abnormality of the cerebral vasculature Pain Type II diabetes mellitus Permanent atrial fibrillation Paroxysmal atrial fibrillation Palpitations Gait disturbance Dysphagia Cerebral amyloid angiopathy Amyloidosis Moyamoya phenomenon Ascending tubular aorta aneurysm Dilatation Sensory impairment Lower limb muscle weakness Anemia Paresthesia Global developmental delay Intellectual disability Myoclonus Mental deterioration Memory impairment Heart murmur Delayed puberty Jaundice Pneumonia Premature atrial contractions



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