AAA
MCID: TRP001
MIFTS: 49

Triple-a Syndrome (AAA) malady

Neuronal diseases, Endocrine diseases categories

Summaries for Triple-a Syndrome

About this section
Sources:
21Genetics Home Reference, 42NIH Rare Diseases, 46OMIM, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
Genetics Home Reference:21 Triple A syndrome is an inherited condition characterized by three specific features: achalasia, Addison disease, and alacrima. Achalasia is a disorder that affects the ability to move food through the esophagus, the tube that carries food from the throat to the stomach. It can lead to severe feeding difficulties and low blood sugar (hypoglycemia). Addison disease, also known as primary adrenal insufficiency, is caused by abnormal function of the small hormone-producing glands on top of each kidney (adrenal glands). The main features of Addison disease include fatigue, loss of appetite, weight loss, low blood pressure, and darkening of the skin. The third major feature of triple A syndrome is a reduced or absent ability to secrete tears (alacrima). Most people with triple A syndrome have all three of these features, although some have only two.

MalaCards: Triple-a Syndrome, also known as achalasia-addisonianism-alacrimia syndrome, is related to achalasia and abdominal aortic aneurysm. An important gene associated with Triple-a Syndrome is AAAS (achalasia, adrenocortical insufficiency, alacrimia), and among its related pathways are Regulation of Glucokinase by Glucokinase Regulatory Protein and Glucocorticoid receptor regulatory network. The compounds [d-trp8]-gamma-msh and alpha-msh have been mentioned in the context of this disorder. Affiliated tissues include skin, kidney and adrenal gland.

NIH Rare Diseases:42 Triple a syndrome is an inherited condition characterized by three specific features: achalasia, addison disease, and alacrima (a reduced or absent ability to secrete tears). most people with triple a syndrome have all three of these features, although some have only two. affected individuals may also have dysautonomia, developmental delay, intellectual disability, speech problems, a small head size, muscle weakness, movement problems, peripheral neuropathy, and optic atrophy. many of the neurological symptoms of triple a syndrome worsen over time. triple a syndrome is caused by mutations in the aaas gene and is inherited in an autosomal recessive pattern. last updated: 8/16/2010

Description from OMIM:46 231550

Aliases & Classifications for Triple-a Syndrome

About this section
Sources:
8Disease Ontology, 10DISEASES, 21Genetics Home Reference, 44Novoseek, 9diseasecard, 46OMIM, 42NIH Rare Diseases, 60UMLS
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal diseases, Endocrine diseases


Aliases & Descriptions:

triple-a syndrome 8 10
achalasia-addisonianism-alacrimia syndrome 8 9 46
allgrove syndrome 8 21 44
achalasia-alacrima syndrome 21 60
triple a syndrome 42 21
aaa syndrome 42 21
aaa 42 21
alacrima-achalasia-adrenal insufficiency neurologic disorder 21
achalasia addisonianism alacrimia syndrome 42
achalasia-addisonianism-alacrima syndrome 21
glucocorticoid deficiency with achalasia 60
achalasia-addisonian syndrome 21
addisonian achalasia syndrome 42
achalasia alacrima syndrome 42


External Ids:

Disease Ontology8 DOID:0050602
OMIM46 231550

Related Diseases for Triple-a Syndrome

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

Graphical network of the top 20 diseases related to Triple-a Syndrome:



Diseases related to triple-a syndrome

Clinical Features for Triple-a Syndrome

About this section
Sources:
46OMIM
See all sources

Clinical features from OMIM:

231550

Clinical synopsis from OMIM:

231550

Drugs & Therapeutics for Triple-a Syndrome

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Triple-a Syndrome

Drug clinical trials:

Search ClinicalTrials for Triple-a Syndrome

Search NIH Clinical Center for Triple-a Syndrome

Search CenterWatch for Triple-a Syndrome

Genetic Tests for Triple-a Syndrome

About this section

Anatomical Context for Triple-a Syndrome

About this section
Sources:
32MalaCards
See all sources

MalaCards organs/tissues related to Triple-a Syndrome:

32
Skin, Kidney, Adrenal gland, Spinal cord

Animal Models for Triple-a Syndrome or affiliated genes

About this section

Publications for Triple-a Syndrome

About this section
Sources:
50PubMed
See all sources

Articles related to Triple-a Syndrome:

(show top 50)    (show all 87)
idTitleAuthorsYear
1
Triple A syndrome in Japan. (23861206)
2013
2
Changes in differential gene expression in fibroblast cells from patients with triple A syndrome under oxidative stress. (23315990)
2013
3
The genetic basis of triple A (Allgrove) syndrome in a Greek family. (23073554)
2013
4
Long-term clinical follow-up and molecular genetic findings in eight patients with triple A syndrome. (22538409)
2012
5
Two siblings with triple A syndrome and novel mutation presenting as hereditary polyneuropathy. (20931227)
2011
6
New ophthalmic features in a family with triple A syndrome. (21626165)
2011
7
Triple-A syndrome. (20687490)
2010
8
Triple A syndrome: 32 years experience of a single centre (1977-2008). (20499090)
2010
9
Spinal cord atrophy in triple A syndrome associated with a novel compound heterozygous mutation. (20588230)
2010
10
Two Italian patients with novel AAAS gene mutation expand allelic and phenotypic spectrum of triple A (Allgrove) syndrome. (20447142)
2010
11
Intracellular ROS level is increased in fibroblasts of triple A syndrome patients. (20706703)
2010
12
Triple A syndrome: two novel mutations in the AAAS gene. (21686524)
2009
13
Upper and lower motor neuron involvement as presenting manifestation of Triple A syndrome. (19794295)
2009
14
Triple A syndrome mimicking ALS. (18615337)
2008
15
Late-onset triple A syndrome: a risk of overlooked or delayed diagnosis and management. (18953174)
2008
16
Restoration of nuclear-import failure caused by triple A syndrome and oxidative stress. (18662670)
2008
17
Three siblings with triple A syndrome with a novel frameshift mutation in the AAAS gene and a review of 17 independent patients with the frequent p.Ser263Pro mutation. (18172684)
2008
18
Triple A syndrome. (19011813)
2008
19
Unusual presentation of triple A syndrome mimicking SjAPgren's syndrome. (17180297)
2007
20
Sialolithiasis with concurrent sialadenitis in an 18-year-old boy with triple A syndrome. (18076839)
2007
21
An Alu-mediated rearrangement causing a 3.2kb deletion and a novel two base pair deletion in AAAS gene as the cause of triple A syndrome. (17911039)
2007
22
Triple-A syndrome--the first Chinese patient with novel mutations in the AAAS gene. (16789645)
2006
23
Association of chronic symptomatic neutropenia with the triple A syndrome. (15654281)
2005
24
The triple A syndrome is due to mutations in ALADIN, a novel member of the nuclear pore complex. (15666842)
2004
25
Myoclonus and generalized digestive dysmotility in triple A syndrome with AAAS gene mutation. (15022193)
2004
26
Achalasia of the cardia in Allgrove's (triple A) syndrome: histopathologic study of 10 cases. (12717251)
2003
27
Triple A syndrome: genotype-phenotype assessment. (12752575)
2003
28
Achalasia--alacrima--ACTH insensitivity syndrome (Triple A syndrome). (12793312)
2003
29
Triple A syndrome--diagnostic and management issues. (12793313)
2003
30
Analysis of the AAAS gene in a Japanese patient with triple A syndrome. (12008750)
2002
31
Genetic separation of the human lacritin gene ("LACRT") and triple A (Allgrove) syndrome on 12q13. (12613904)
2002
32
A case of Allgrove (Triple A) syndrome associated with renal ectopia. (12150219)
2002
33
New insights into the molecular basis of the triple A syndrome. (12530689)
2002
34
Clinical and genetic characterization of families with triple A (Allgrove) syndrome. (12429595)
2002
35
Clinical and novel molecular findings in a 6.8-year-old Turkish boy with triple A syndrome. (11815731)
2001
36
Achalasia, alacrima, adrenal insufficiency, and autonomic dysfunction: double A, triple A, or quaternary A syndrome? (11698772)
2001
37
Recurrent vomiting as first symptom of triple-a syndrome--a case report. (11807674)
2001
38
Triple A syndrome mimicking cystic fibrosis. (10714761)
2000
39
Xerostomia in patients with triple A syndrome--a newly recognised finding. (11131343)
2000
40
Linkage disequilibrium in inbred North African families allows fine genetic and physical mapping of triple A syndrome. (10951524)
2000
41
Achalasia-Alacrima-Acth insentivity syndrome (Triple A syndrome) in a Saudi Family. (17322679)
2000
42
Mutant WD-repeat protein in triple-A syndrome. (11062474)
2000
43
Serum control following replacement therapy in triple A syndrome - reply (10717713)
1999
44
Triple-A syndrome. (10216555)
1998
45
Segregation of Allgrove (triple-A) syndrome in Puerto Rican kindreds with chromosome 12 (12q13) polymorphic markers. (9285947)
1997
46
A novel mutation of the adrenocorticotropin receptor (ACTH-R) gene in a family with the syndrome of isolated glucocorticoid deficiency, but no ACTH-R abnormalities in two families with the triple A syndrome. (7608277)
1995
47
Variant of the Triple A syndrome. (7945119)
1994
48
Achalasia-alacrima-ACTH insensitivity syndrome (Triple-A-syndrome). (8253654)
1993
49
Three sibs with achalasia and alacrimia: a separate entity different from triple-A syndrome. (2817011)
1989
50
Pediatric case of the day. Triple A syndrome: achalasia, alacrima and ACTH insensitivity. (2543041)
1989

Genetic Variations for Triple-a Syndrome

About this section
Sources:
62UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Triple-a Syndrome:

62
id Symbol AA change Variation ID SNP ID
1AAASp.Gln15LysVAR_012804
2AAASp.His160ArgVAR_012805
3AAASp.Ser263ProVAR_012806rs121918550

Expression for genes affiliated with Triple-a Syndrome

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Triple-a Syndrome

Search GEO for disease gene expression data for Triple-a Syndrome.

Pathways for genes affiliated with Triple-a Syndrome

About this section
Sources:
53Reactome, 37NCBI BioSystems Database, 51QIAGEN, 12EMD Millipore
See all sources

Compounds for genes affiliated with Triple-a Syndrome

About this section
Sources:
59Tocris Bioscience, 44Novoseek, 11DrugBank
See all sources

Compounds related to Triple-a Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1[d-trp8]-gamma-msh5910.1POMC, MC2R
2alpha-msh5910.1POMC, MC2R
3polynucleotide4410.0LIG1, APTX, XRCC1
4hs 0145910.0POMC, MC2R
5pg 1065910.0POMC, MC2R
6metyrapone59 44 1112.0MC2R, POMC
7shu 911944 5910.9POMC, MC2R
8aminoglutethimide44 1110.7MC2R, POMC

GO Terms for genes affiliated with Triple-a Syndrome

About this section
Sources:
16Gene Ontology
See all sources

Cellular components related to Triple-a Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nuclear envelopeGO:0056359.7AAAS, NUP62, POM121
2npBAF complexGO:0715649.4SMARCC2, SMARCD3, SMARCD1
3nBAF complexGO:0715659.3SMARCD1, SMARCD3, SMARCC2
4SWI/SNF complexGO:0165149.1SMARCD2, SMARCC2, SMARCD3, SMARCD1
5nuclear poreGO:0056439.1AAAS, NUP62, IPO7, POM121

Biological processes related to Triple-a Syndrome according to GeneCards/GeneDecks:

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1nucleocytoplasmic transportGO:00691310.1AAAS, NUP62
2single strand break repairGO:00001210.1APTX, XRCC1
3regulation of glucose transportGO:0108279.9AAAS, NUP62, POM121
4mitotic nuclear envelope disassemblyGO:0070779.9AAAS, NUP62, POM121
5hexose transportGO:0086459.9POM121, NUP62, AAAS
6glucose transportGO:0157589.8AAAS, NUP62, POM121
7nucleosome disassemblyGO:0063379.3SMARCD2, SMARCC2, SMARCD3, SMARCD1
8chromatin remodelingGO:0063389.3SMARCD1, SMARCD3, SMARCC2, SMARCD2
9mitotic cell cycleGO:0002789.2AAAS, NUP62, POM121, LIG1
10regulation of transcription from RNA polymerase II promoterGO:0063579.0SMARCD1, SMARCD3, SMARCC2, SMARCD2

Molecular functions related to Triple-a Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1Ran GTPase bindingGO:0085369.7IPO11, IPO7
2transcription coactivator activityGO:0037138.8SMARCD2, SMARCC2, SMARCD3, SMARCD1

Products for genes affiliated with Triple-a Syndrome

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Triple-a Syndrome

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet