Papillorenal syndrome: Difference between revisions

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{{Infobox Disease
{{Infobox Disease
  | Name          = Papillorenal syndrome
  | Name          = Papillorenal syndrome
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  | OMIM          = 120330
  | OMIM          = 120330
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  | MedlinePlus    =  
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{{SI}}
{{Papillorenal syndrome }}
 
'''For patient information click [[{{PAGENAME}} (patient information)|here]]'''
 
{{CMG}} {{AE}} {{Shivam Singla}}
 
{{SK}}: Renal-coloboma syndrome; isolated renal hypoplasia; coloboma of optic nerve with renal disease; coloboma-ureteral-renal syndrome; ONCR; optic coloboma, vesicoureteral reflux, and renal anomalies; optic nerve coloboma renal syndrome; papillorenal syndrome; RCS; renal-coloboma syndrome
==[[Papillorenal syndrome overview|Overview]]==
 
==[[Papillorenal syndrome historical perspective|Historical Perspective]]==
 
==[[Papillorenal syndrome pathophysiology|Pathophysiology]]==
 
==[[Papillorenal syndrome differential diagnosis|Differentiating Papillorenal syndrome from other Diseases]]==


{{CMG}}
==[[Papillorenal syndrome epidemiology and demographics|Epidemiology and Demographics]]==


==[[Papillorenal syndrome risk factors|Risk Factors]]==


==[[Papillorenal syndrome natural history, complications and prognosis|Natural History, Complications and Prognosis]]==


'''Papillorenal syndrome''', also called '''Renal-coloboma syndrome''', is an [[autosomal]] [[dominant]] [[genetic disorder]] marked by underdevelopment (hypoplasia) of the [[kidney]] and [[coloboma]]s of the [[optic nerve]].<ref name=omim>{{OMIM|120330}}</ref>
==Diagnosis==


==Pathophysiology==
[[Papillorenal syndrome history and symptoms|History and Symptoms]] | [[Papillorenal syndrome physical examination|Physical Examination]] | [[Papillorenal syndrome laboratory findings|Laboratory Findings]] | [[Papillorenal syndrome MRI|MRI]] | [[Papillorenal syndrome echocardiography or ultrasound|Ultrasound]] | [[Papillorenal syndrome other imaging findings|Other Imaging Findings]] | [[Papillorenal syndrome other diagnostic studies|Other Diagnostic Studies]]


[[Image:autodominant.jpg|thumb|left|{{PAGENAME}} has an autosomal dominant pattern of [[inheritance]].]]
==Treatment==


The syndrome results from mutation of a copy of the [[Pax genes|PAX2 gene]],<ref name=omim/> a gene which is important in the development of both the eye and the kidney.
[[Papillorenal syndrome medical therapy|Medical Therapy]] | [[Papillorenal syndrome surgery|Surgery]] | [[Papillorenal syndrome primary prevention|Primary Prevention]] | [[Papillorenal syndrome secondary prevention|Secondary Prevention]] | [[Papillorenal syndrome cost-effectiveness of therapy|Cost-Effectiveness of Therapy]] | [[Papillorenal syndrome future or investigational therapies|Future or Investigational Therapies]]


==References==
==Case Studies==
{{reflist|2}}
[[Papillorenal syndrome case study one|Case #1]]
<br />


{{Congenital malformations of genital organs and urinary system}}
{{Congenital malformations of genital organs and urinary system}}


[[Category:Kidney diseases]]
[[Category:Kidney diseases]]
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[[Category:Genetic disorders]]
[[Category:Genetic disorders]]
[[Category:Syndromes]]
[[Category:Syndromes]]
[[Category:Disease]]


{{WH}}
{{WH}}
{{WS}}
{{WS}}

Latest revision as of 21:40, 4 November 2020

Papillorenal syndrome
OMIM 120330
DiseasesDB 32086

Papillorenal syndrome Microchapters

Home

Patient Information

Overview

Historical Perspective

Pathophysiology

Differentiating Papillorenal syndrome from other Diseases

Epidemiology and Demographics

Risk Factors

Natural History, Complications and Prognosis

Diagnosis

History and Symptoms

Physical Examination

Laboratory Findings

MRI

Ultrasound

Other Imaging Findings

Other Diagnostic Studies

Treatment

Medical Therapy

Surgery

Primary Prevention

Secondary Prevention

Cost-Effectiveness of Therapy

Future or Investigational Therapies

Case Studies

Case #1

Papillorenal syndrome On the Web

Most recent articles

Most cited articles

Review articles

CME Programs

Powerpoint slides

Images

American Roentgen Ray Society Images of Papillorenal syndrome

All Images
X-rays
Echo & Ultrasound
CT Images
MRI

Ongoing Trials at Clinical Trials.gov

US National Guidelines Clearinghouse

NICE Guidance

FDA on Papillorenal syndrome

CDC on Papillorenal syndrome

Papillorenal syndrome in the news

Blogs on Papillorenal syndrome

Directions to Hospitals Treating Papillorenal syndrome

Risk calculators and risk factors for Papillorenal syndrome

For patient information click here

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Shivam Singla, M.D.[2]

Synonyms and keywords:: Renal-coloboma syndrome; isolated renal hypoplasia; coloboma of optic nerve with renal disease; coloboma-ureteral-renal syndrome; ONCR; optic coloboma, vesicoureteral reflux, and renal anomalies; optic nerve coloboma renal syndrome; papillorenal syndrome; RCS; renal-coloboma syndrome

Overview

Historical Perspective

Pathophysiology

Differentiating Papillorenal syndrome from other Diseases

Epidemiology and Demographics

Risk Factors

Natural History, Complications and Prognosis

Diagnosis

History and Symptoms | Physical Examination | Laboratory Findings | MRI | Ultrasound | Other Imaging Findings | Other Diagnostic Studies

Treatment

Medical Therapy | Surgery | Primary Prevention | Secondary Prevention | Cost-Effectiveness of Therapy | Future or Investigational Therapies

Case Studies

Case #1

Template:WH Template:WS

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