Triple A syndrome

Infobox_Disease
Name = PAGENAME


Caption =
DiseasesDB =32088
ICD10 =
ICD9 =
ICDO =
OMIM =231550
MedlinePlus =
eMedicineSubj =ped
eMedicineTopic =71
MeshID =

Triple-A syndrome (also known as Allgrove Syndrome) is a rare autosomal recessive disorder. The syndrome was discovered by Jeremy Allgrove and colleagues in 1978. Triple A stands for achalasia-addisonianism-alacrima syndrome.

Sufferers have adrenal insufficiency, alacrima (absence of tear secretion), and achalasia. Achalasia is a failure of a ring of muscle fibers, such as a sphincter, to relax. Triple-A patients have achalasia of the lower oesophageal sphincter at the cardia which delays food going to the stomach and causes dilation of the thoracic oesophagus. Managed effectively, patients can have a normal lifespan and bear children.

The syndrome is highly variable.In 2000, Huebner "et al" mapped the syndrome to a 6 cM interval on human chromosome 12q13 near the type II keratin gene cluster. [cite journal |author=Huebner A, Yoon SJ, Ozkinay F, "et al" |title=Triple A syndrome--clinical aspects and molecular genetics |journal=Endocr. Res. |volume=26 |issue=4 |pages=751–9 |year=2000 |month=Nov |pmid=11196451 |doi= |url=]

ee also

* achalasia, addisonianism, alacrima

External links

External links

* [http://www.neuro.wustl.edu/neuromuscular/autonomic.html#aaa Washington University School of Medicine]
*eMedicine|ped|71|Allgrove (AAA) Syndrome
*OMIM3|231550 RareDiseases|457|Achalasia Addisonianism Alacrimia syndrome; Triple A syndrome