Format

Send to:

Choose Destination

Links from PubMed

Peripheral arterial stenosis

MedGen UID:
352846
Concept ID:
C1704436
Disease or Syndrome
Synonyms: Arterial disease of legs; Occlusive arterial disease; Occlusive vascular disease; Peripheral artery disease; Peripheral artery occlusive disease; Peripheral vascular disease
SNOMED CT: Peripheral arterial disease (399957001)
 
HPO: HP:0004950

Definition

A disorder of the arteries supplying the upper and lower extremity and the visceral organs. This includes the mesenteric arteries, the renal arteries and the aorta and excludes cerebrovascular arterial disease. Patients experience cramping and pain usually in the calves and thighs while walking. The symptoms subside with rest. [from NCI]

Conditions with this feature

Supravalvar aortic stenosis
MedGen UID:
2001
Concept ID:
C0003499
Disease or Syndrome
Supravalvular aortic stenosis (SVAS) is a heart defect that develops before birth. This defect is a narrowing (stenosis) of the large blood vessel that carries blood from the heart to the rest of the body (the aorta). The condition is described as supravalvular because the section of the aorta that is narrowed is located just above the valve that connects the aorta with the heart (the aortic valve). Some people with SVAS also have defects in other blood vessels, most commonly stenosis of the artery from the heart to the lungs (the pulmonary artery). An abnormal heart sound during a heartbeat (heart murmur) can often be heard during a chest exam. If SVAS is not treated, the aortic narrowing can lead to shortness of breath, chest pain, and ultimately heart failure.The severity of SVAS varies considerably, even among family members. Some affected individuals die in infancy, while others never experience symptoms of the disorder.
Primary hyperoxaluria, type I
MedGen UID:
75658
Concept ID:
C0268164
Disease or Syndrome
Primary hyperoxaluria type 1 (PH1) is caused by a deficiency of the liver peroxisomal enzyme alanine:glyoxylate-aminotransferase (AGT), which catalyzes the conversion of glyoxylate to glycine. When AGT activity is absent, glyoxylate is converted to oxalate, which forms insoluble calcium oxalate crystals that accumulate in the kidney and other organs. Individuals with PH1 are at risk for recurrent nephrolithiasis (deposition of calcium oxalate in the renal pelvis / urinary tract), nephrocalcinosis (deposition of calcium oxalate in the renal parenchyma), or end-stage renal disease (ESRD). Age at onset of symptoms ranges from infancy to the sixth decade. Approximately 10% of affected individuals present in infancy or early childhood with nephrocalcinosis, with or without nephrolithiasis, and failure to thrive related to renal failure. The majority of individuals with PH1 present in childhood or early adolescence, usually with symptomatic nephrolithiasis and normal or reduced kidney function. The remainder of affected individuals present in adulthood with recurrent renal stones and a mild-to-moderate reduction in kidney function. The natural history of untreated PH1 is one of progressive decline in renal function as a result of calcium oxalate deposits in kidney tissue and complications of nephrolithiasis (e.g., obstruction and infection) with eventual progression to oxalosis (widespread tissue deposition of calcium oxalate) and death from ESRD and/or complications of oxalosis.
Factor V excess with spontaneous thrombosis
MedGen UID:
341996
Concept ID:
C1851378
Disease or Syndrome
Distichiasis with congenital anomalies of the heart and peripheral vasculature
MedGen UID:
338862
Concept ID:
C1852062
Disease or Syndrome
Deafness, sensorineural, with peripheral neuropathy and arterial disease
MedGen UID:
343766
Concept ID:
C1852280
Disease or Syndrome
Pancytopenia and occlusive vascular disease
MedGen UID:
358375
Concept ID:
C1868652
Disease or Syndrome

Recent clinical studies

Etiology

Rajebi MR, Benenati MJ, Schernthaner MB, Walker G, Gandhi RT, Pena CS, Katzen BT
J Vasc Interv Radiol 2015 Jun;26(6):890-6. Epub 2015 Apr 3 doi: 10.1016/j.jvir.2015.02.018. PMID: 25847148
van den Bosch HC, Westenberg JJ, Setz-Pels W, Wondergem J, Wolterbeek R, Duijm LE, Teijink JA, de Roos A
J Cardiovasc Magn Reson 2015 Jan 20;17(1):2. doi: 10.1186/s12968-014-0095-8. PMID: 25600313Free PMC Article
Attenberger UI, Haneder S, Morelli JN, Diehl SJ, Schoenberg SO, Michaely HJ
Radiology 2010 Dec;257(3):879-87. Epub 2010 Oct 19 doi: 10.1148/radiol.10100781. PMID: 20959539
Al-Hamali S, Baskerville P, Fraser S, Walters H, Markus HS
J Vasc Surg 1999 Feb;29(2):345-51. PMID: 9950992
Karnegis JN, Matts JP, Tuna N, Hunter D, Amplatz K
Atherosclerosis 1992 Jan;92(1):25-30. PMID: 1575819

Diagnosis

Rajebi MR, Benenati MJ, Schernthaner MB, Walker G, Gandhi RT, Pena CS, Katzen BT
J Vasc Interv Radiol 2015 Jun;26(6):890-6. Epub 2015 Apr 3 doi: 10.1016/j.jvir.2015.02.018. PMID: 25847148
Attenberger UI, Haneder S, Morelli JN, Diehl SJ, Schoenberg SO, Michaely HJ
Radiology 2010 Dec;257(3):879-87. Epub 2010 Oct 19 doi: 10.1148/radiol.10100781. PMID: 20959539
Soyer H, Uslu I
Clin Nucl Med 2007 Jun;32(6):458-9. doi: 10.1097/RLU.0b013e318059b54a. PMID: 17515753
Hertz SM, Baum RA, Owen RS, Holland GA, Logan DR, Carpenter JP
Am J Surg 1993 Aug;166(2):112-6; discussion 116. PMID: 8352400
Karnegis JN, Matts JP, Tuna N, Hunter D, Amplatz K
Atherosclerosis 1992 Jan;92(1):25-30. PMID: 1575819

Therapy

Attenberger UI, Haneder S, Morelli JN, Diehl SJ, Schoenberg SO, Michaely HJ
Radiology 2010 Dec;257(3):879-87. Epub 2010 Oct 19 doi: 10.1148/radiol.10100781. PMID: 20959539
Gau GT, Wright RS
Curr Probl Cardiol 2006 Jul;31(7):445-86. doi: 10.1016/j.cpcardiol.2006.03.001. PMID: 16824902
Kröger K, Massalha K, Buss C, Rudofsky G
J Clin Ultrasound 2000 Mar;28(3):109-14. PMID: 10679696
Al-Hamali S, Baskerville P, Fraser S, Walters H, Markus HS
J Vasc Surg 1999 Feb;29(2):345-51. PMID: 9950992
Karnegis JN, Matts JP, Tuna N, Hunter D, Amplatz K
Atherosclerosis 1992 Jan;92(1):25-30. PMID: 1575819

Prognosis

Rajebi MR, Benenati MJ, Schernthaner MB, Walker G, Gandhi RT, Pena CS, Katzen BT
J Vasc Interv Radiol 2015 Jun;26(6):890-6. Epub 2015 Apr 3 doi: 10.1016/j.jvir.2015.02.018. PMID: 25847148
Attenberger UI, Haneder S, Morelli JN, Diehl SJ, Schoenberg SO, Michaely HJ
Radiology 2010 Dec;257(3):879-87. Epub 2010 Oct 19 doi: 10.1148/radiol.10100781. PMID: 20959539
Kröger K, Massalha K, Buss C, Rudofsky G
J Clin Ultrasound 2000 Mar;28(3):109-14. PMID: 10679696

Clinical prediction guides

Rajebi MR, Benenati MJ, Schernthaner MB, Walker G, Gandhi RT, Pena CS, Katzen BT
J Vasc Interv Radiol 2015 Jun;26(6):890-6. Epub 2015 Apr 3 doi: 10.1016/j.jvir.2015.02.018. PMID: 25847148
Attenberger UI, Haneder S, Morelli JN, Diehl SJ, Schoenberg SO, Michaely HJ
Radiology 2010 Dec;257(3):879-87. Epub 2010 Oct 19 doi: 10.1148/radiol.10100781. PMID: 20959539
Hertz SM, Baum RA, Owen RS, Holland GA, Logan DR, Carpenter JP
Am J Surg 1993 Aug;166(2):112-6; discussion 116. PMID: 8352400

Supplemental Content

Table of contents

    Clinical resources

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...
    Support Center