Bannayan-Riley-Ruvalcaba syndrome causes: Difference between revisions

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__NOTOC__
__NOTOC__
{{xyz}}
{{Bannayan-Riley-Ruvalcaba syndrome}}


{{CMG}}; {{AE}}  
{{CMG}}; {{AE}} {{VKG}}
==Overview==
==Overview==
Disease name] may be caused by [cause1], [cause2], or [cause3].
Bannayan-Riley-Ruvalcaba syndrome (BRRS) is caused by a [[mutation]] in the [[phosphatase]] and tensin [[homolog]] (''[[PTEN (gene)|PTEN]])'' [[gene]].
 
OR
 
Common causes of [disease] include [cause1], [cause2], and [cause3].
 
OR
 
The most common cause of [disease name] is [cause 1]. Less common causes of [disease name] include [cause 2], [cause 3], and [cause 4].
 
OR
 
The cause of [disease name] has not been identified. To review risk factors for the development of [disease name], click [[Pericarditis causes#Overview|here]].


==Causes==
==Causes==
===Life-threatening Causes===
'''Genetic Cause'''
*Life-threatening causes include conditions which may result in death or permanent disability within 24 hours if left untreated. There are no life-threatening causes of [[disease name]], however complications resulting from untreated [[disease name]] is common.
* Bannayan-Riley-Ruvalcaba syndrome (BRRS) is caused by a [[mutation]] in the [[phosphatase]] and tensin [[homolog]] (''[[PTEN (gene)|PTEN]])'' [[gene]].<ref name="pmid19011570">{{cite journal |vauthors=Alomari AI |title=Characterization of a distinct syndrome that associates complex truncal overgrowth, vascular, and acral anomalies: a descriptive study of 18 cases of CLOVES syndrome |journal=Clin. Dysmorphol. |volume=18 |issue=1 |pages=1–7 |date=January 2009 |pmid=19011570 |doi=10.1097/MCD.0b013e328317a716 |url=}}</ref><ref name="pmid17963221">{{cite journal |vauthors=Sapp JC, Turner JT, van de Kamp JM, van Dijk FS, Lowry RB, Biesecker LG |title=Newly delineated syndrome of congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE syndrome) in seven patients |journal=Am. J. Med. Genet. A |volume=143A |issue=24 |pages=2944–58 |date=December 2007 |pmid=17963221 |doi=10.1002/ajmg.a.32023 |url=}}</ref><ref name="pmid28571234">{{cite journal |vauthors=Acosta S, Torres V, Paulos M, Cifuentes I |title=CLOVES Syndrome: Severe Neonatal Presentation |journal=J Clin Diagn Res |volume=11 |issue=4 |pages=TR01–TR03 |date=April 2017 |pmid=28571234 |pmc=5449880 |doi=10.7860/JCDR/2017/23801.9719 |url=}}</ref><ref name="pmid29231959">{{cite journal |vauthors=Michel ME, Konczyk DJ, Yeung KS, Murillo R, Vivero MP, Hall AM, Zurakowski D, Adams D, Gupta A, Huang AY, Chung BHY, Warman ML |title=Causal somatic mutations in urine DNA from persons with the CLOVES subgroup of the PIK3CA-related overgrowth spectrum |journal=Clin. Genet. |volume=93 |issue=5 |pages=1075–1080 |date=May 2018 |pmid=29231959 |doi=10.1111/cge.13195 |url=}}</ref>
*Life-threatening causes of [symptom/manifestation] include [cause1], [cause2], and [cause3].
* Different types of [[mutations]] occurs in ''[[PTEN (gene)|PTEN]]'' [[gene]] and are as follows'':''
*[Cause] is a life-threatening cause of [disease].
** [[Germline]] intragenic [[mutations]] in ''[[PTEN (gene)|PTEN]]'' [[gene]]
 
** Gross [[gene]] [[Deletion|deletions]] in ''[[PTEN (gene)|PTEN]]'' [[gene]]
===Common Causes===
** [[Mutations]] in the ''[[PTEN (gene)|PTEN]]'' gene [[Promoter region|promoter]] region results in [[heterozygous]] [[Germline mutation|germline mutations]]
Common causes of [disease name] may include:
** [[Deletion (genetics)|Deletion]] in [[exons]] 1-5 of ''[[PTEN (gene)|PTEN]]'' [[gene]]
*[Cause1]
*[Cause2]
*[Cause3]
 
 
OR
 
 
*[Disease name] is caused by an infection with [pathogen name].
*[Pathogen name] is caused by [pathogen name].
 
===Less Common Causes===
Less common causes of [disease name] include:
*[Cause1]
*[Cause2]
*[Cause3]
 
===Genetic Causes===
*[Disease name] is caused by a mutation in the [gene name] gene.
 
===Causes by Organ System===
 
{|style="width:80%; height:100px" border="1"
|style="height:100px"; style="width:25%" border="1" bgcolor="LightSteelBlue" |'''Cardiovascular'''
|style="height:100px"; style="width:75%" border="1" bgcolor="Beige" | No underlying causes
|-
|bgcolor="LightSteelBlue"| '''Chemical/Poisoning'''
|bgcolor="Beige"| No underlying causes
|-
|-bgcolor="LightSteelBlue"
| '''Dental'''
|bgcolor="Beige"| No underlying causes
|-
|-bgcolor="LightSteelBlue"
| '''Dermatologic'''
|bgcolor="Beige"| No underlying causes
|-
|-bgcolor="LightSteelBlue"
| '''Drug Side Effect'''
|bgcolor="Beige"| No underlying causes
|-
|-bgcolor="LightSteelBlue"
| '''Ear Nose Throat'''
|bgcolor="Beige"| No underlying causes
|-
|-bgcolor="LightSteelBlue"
| '''Endocrine'''
|bgcolor="Beige"| No underlying causes
|-
|-bgcolor="LightSteelBlue"
| '''Environmental'''
|bgcolor="Beige"| No underlying causes
|-
|-bgcolor="LightSteelBlue"
| '''Gastroenterologic'''
|bgcolor="Beige"| No underlying causes
|-
|-bgcolor="LightSteelBlue"
| '''Genetic'''
|bgcolor="Beige"| No underlying causes
|-
|-bgcolor="LightSteelBlue"
| '''Hematologic'''
|bgcolor="Beige"| No underlying causes
|-
|-bgcolor="LightSteelBlue"
| '''Iatrogenic'''
|bgcolor="Beige"| No underlying causes
|-
|-bgcolor="LightSteelBlue"
| '''Infectious Disease'''
|bgcolor="Beige"| No underlying causes
|-
|-bgcolor="LightSteelBlue"
| '''Musculoskeletal/Orthopedic'''
|bgcolor="Beige"| No underlying causes
|-
|-bgcolor="LightSteelBlue"
| '''Neurologic'''
|bgcolor="Beige"| No underlying causes
|-
|-bgcolor="LightSteelBlue"
| '''Nutritional/Metabolic'''
|bgcolor="Beige"| No underlying causes
|-
|-bgcolor="LightSteelBlue"
| '''Obstetric/Gynecologic'''
|bgcolor="Beige"| No underlying causes
|-
|-bgcolor="LightSteelBlue"
| '''Oncologic'''
|bgcolor="Beige"| No underlying causes
|-
|-bgcolor="LightSteelBlue"
| '''Ophthalmologic'''
|bgcolor="Beige"| No underlying causes
|-
|-bgcolor="LightSteelBlue"
| '''Overdose/Toxicity'''
|bgcolor="Beige"| No underlying causes
|-
|-bgcolor="LightSteelBlue"
| '''Psychiatric'''
|bgcolor="Beige"| No underlying causes
|-
|-bgcolor="LightSteelBlue"
| '''Pulmonary'''
|bgcolor="Beige"| No underlying causes
|-
|-bgcolor="LightSteelBlue"
| '''Renal/Electrolyte'''
|bgcolor="Beige"| No underlying causes
|-
|-bgcolor="LightSteelBlue"
| '''Rheumatology/Immunology/Allergy'''
|bgcolor="Beige"| No underlying causes
|-
|-bgcolor="LightSteelBlue"
| '''Sexual'''
|bgcolor="Beige"| No underlying causes
|-
|-bgcolor="LightSteelBlue"
| '''Trauma'''
|bgcolor="Beige"| No underlying causes
|-
|-bgcolor="LightSteelBlue"
| '''Urologic'''
|bgcolor="Beige"| No underlying causes
|-
|-bgcolor="LightSteelBlue"
| '''Miscellaneous'''
|bgcolor="Beige"| No underlying causes
|-
|}
 
 
===Causes in Alphabetical Order===
List the causes of the disease in alphabetical order:
<div style="-moz-column-count:3; column-count:3;">
* Cause 1
* Cause 2
* Cause 3
* Cause 4
* Cause 5
* Cause 6
* Cause 7
* Cause 8
* Cause 9
* Cause 10
</div>


==References==
==References==
Line 182: Line 20:
{{WH}}
{{WH}}
{{WS}}
{{WS}}
[[Category: (name of the system)]]
[[Category: Rare disease]]

Latest revision as of 16:12, 28 February 2019

Template:Bannayan-Riley-Ruvalcaba syndrome

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Vamsikrishna Gunnam M.B.B.S [2]

Overview

Bannayan-Riley-Ruvalcaba syndrome (BRRS) is caused by a mutation in the phosphatase and tensin homolog (PTEN) gene.

Causes

Genetic Cause

References

  1. ↑ Alomari AI (January 2009). "Characterization of a distinct syndrome that associates complex truncal overgrowth, vascular, and acral anomalies: a descriptive study of 18 cases of CLOVES syndrome". Clin. Dysmorphol. 18 (1): 1–7. doi:10.1097/MCD.0b013e328317a716. PMID 19011570.
  2. ↑ Sapp JC, Turner JT, van de Kamp JM, van Dijk FS, Lowry RB, Biesecker LG (December 2007). "Newly delineated syndrome of congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE syndrome) in seven patients". Am. J. Med. Genet. A. 143A (24): 2944–58. doi:10.1002/ajmg.a.32023. PMID 17963221.
  3. ↑ Acosta S, Torres V, Paulos M, Cifuentes I (April 2017). "CLOVES Syndrome: Severe Neonatal Presentation". J Clin Diagn Res. 11 (4): TR01–TR03. doi:10.7860/JCDR/2017/23801.9719. PMC 5449880. PMID 28571234.
  4. ↑ Michel ME, Konczyk DJ, Yeung KS, Murillo R, Vivero MP, Hall AM, Zurakowski D, Adams D, Gupta A, Huang AY, Chung B, Warman ML (May 2018). "Causal somatic mutations in urine DNA from persons with the CLOVES subgroup of the PIK3CA-related overgrowth spectrum". Clin. Genet. 93 (5): 1075–1080. doi:10.1111/cge.13195. PMID 29231959. Vancouver style error: initials (help)

Template:WH Template:WS

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