AAA
MCID: TRP001
MIFTS: 40

Triple-a Syndrome (AAA) malady

Genetic diseases, Rare diseases, Neuronal diseases, Endocrine diseases, Reproductive diseases, Fetal diseases categories
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Summaries for Triple-a Syndrome

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43NIH Rare Diseases, 21Genetics Home Reference, 47OMIM, 33MalaCards
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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 allgrove 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 Glucocorticoid receptor regulatory network and AMPK Enzyme Complex Pathway. The compound acth have been mentioned in the context of this disorder. Affiliated tissues include spinal cord.

NIH Rare Diseases:43 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:47 231550

Aliases & Classifications for Triple-a Syndrome

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8Disease Ontology, 10DISEASES, 9diseasecard, 47OMIM, 43NIH Rare Diseases, 21Genetics Home Reference, 45Novoseek, 62UMLS
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Classifications:



Aliases & Descriptions:

triple-a syndrome 8 10
allgrove syndrome 8 43 21 45
achalasia-addisonianism-alacrimia syndrome 8 9 47
alacrima-achalasia-adrenal insufficiency neurologic disorder 43 21
achalasia-alacrima syndrome 21 62
triple a syndrome 43 21
aaa syndrome 43 21
aaa 43 21
achalasia addisonianism alacrimia syndrome 43
achalasia-addisonianism-alacrima syndrome 21
glucocorticoid deficiency with achalasia 62
addisonian achalasia syndrome 43
achalasia-addisonian syndrome 21
achalasia alacrima syndrome 43


External Ids:

Disease Ontology8 DOID:0050602
OMIM47 231550

Related Diseases for Triple-a Syndrome

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Triple-a Syndrome:



Diseases related to triple-a syndrome

Symptoms for Triple-a Syndrome

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47OMIM
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Symptoms by clinical synopsis from OMIM:

231550

Clinical features from OMIM:

231550

Drugs & Therapeutics for Triple-a Syndrome

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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Triple-a Syndrome

Search NIH Clinical Center for Triple-a Syndrome

Genetic Tests for Triple-a Syndrome

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Anatomical Context for Triple-a Syndrome

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33MalaCards
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MalaCards organs/tissues related to Triple-a Syndrome:

33
Spinal cord

Animal Models for Triple-a Syndrome or affiliated genes

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Publications for Triple-a Syndrome

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52PubMed
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Articles related to Triple-a Syndrome:

(show top 50)    (show all 80)
idTitleAuthorsYear
1
Clinical and genetic characterization of a Chinese patient with triple A syndrome and novel compound heterozygous mutations in the AAAS gene. (23327820)
2013
2
Triple A syndrome in Japan. (23861206)
2013
3
Changes in differential gene expression in fibroblast cells from patients with triple A syndrome under oxidative stress. (23315990)
2013
4
Longitudinal neuropsychological profile in a patient with triple a syndrome. (23691407)
2013
5
Long-term clinical follow-up and molecular genetic findings in eight patients with triple A syndrome. (22538409)
2012
6
Triple A syndrome in a patient with genetic growth hormone insensitivity: phenotypic effects of two genetic disorders. (22269647)
2012
7
X-linked mental retardation with alacrima and achalasia-Triple A syndrome or a new syndrome? (21744492)
2011
8
Two siblings with triple A syndrome and novel mutation presenting as hereditary polyneuropathy. (20931227)
2011
9
Triple-A syndrome. (20687490)
2010
10
Triple A syndrome: 32 years experience of a single centre (1977-2008). (20499090)
2010
11
Triple A syndrome: a novel compound heterozygous mutation in the AAAS gene in an Italian patient without adrenal insufficiency. (20051279)
2010
12
Deficiency of ferritin heavy-chain nuclear import in triple a syndrome implies nuclear oxidative damage as the primary disease mechanism. (19855093)
2009
13
Triple A syndrome: two novel mutations in the AAAS gene. (21686524)
2009
14
Clinical and molecular genetic findings in a 6-year-old Bosnian boy with triple A syndrome. (18551317)
2009
15
Tissue-specific expression and subcellular localization of ALADIN, the absence of which causes human triple A syndrome. (19322026)
2009
16
Triple A syndrome mimicking ALS. (18615337)
2008
17
Late-onset triple A syndrome: a risk of overlooked or delayed diagnosis and management. (18953174)
2008
18
Restoration of nuclear-import failure caused by triple A syndrome and oxidative stress. (18662670)
2008
19
Triple A syndrome with ophthalmic manifestations in two siblings. (17595484)
2007
20
Dysphagia due to triple A syndrome: successful treatment of achalasia by balloon dilatation. (17853339)
2007
21
Unusual presentation of triple A syndrome mimicking SjAPgren's syndrome. (17180297)
2007
22
Sialolithiasis with concurrent sialadenitis in an 18-year-old boy with triple A syndrome. (18076839)
2007
23
Triple-A syndrome--the first Chinese patient with novel mutations in the AAAS gene. (16789645)
2006
24
A novel AAAS gene mutation (p.R194X) in a patient with triple A syndrome. (16543750)
2006
25
Cellular localization of 17 natural mutant variants of ALADIN protein in triple A syndrome - shedding light on an unexpected splice mutation. (16609705)
2006
26
Genotypic heterogeneity and clinical phenotype in triple A syndrome: a review of the NIH experience 2000-2005. (16098009)
2005
27
Triple A syndrome. (16361769)
2005
28
Association of chronic symptomatic neutropenia with the triple A syndrome. (15654281)
2005
29
Triple-A syndrome with prominent ophthalmic features and a novel mutation in the AAAS gene: a case report. (15217518)
2004
30
The triple A syndrome is due to mutations in ALADIN, a novel member of the nuclear pore complex. (15666842)
2004
31
Myoclonus and generalized digestive dysmotility in triple A syndrome with AAAS gene mutation. (15022193)
2004
32
Estimating the age of rare disease mutations: the example of Triple-A syndrome. (15173230)
2004
33
Oral manifestations of triple A syndrome. (12911870)
2003
34
Achalasia of the cardia in Allgrove's (triple A) syndrome: histopathologic study of 10 cases. (12717251)
2003
35
Triple A syndrome: genotype-phenotype assessment. (12752575)
2003
36
Achalasia--alacrima--ACTH insensitivity syndrome (Triple A syndrome). (12793312)
2003
37
Triple A syndrome--diagnostic and management issues. (12793313)
2003
38
Analysis of the AAAS gene in a Japanese patient with triple A syndrome. (12008750)
2002
39
Progressive bulbospinal amyotrophy in triple A syndrome with AAAS gene mutation. (11914417)
2002
40
Clinical and novel molecular findings in a 6.8-year-old Turkish boy with triple A syndrome. (11815731)
2001
41
Triple A syndrome is caused by mutations in AAAS, a new WD-repeat protein gene. (11159947)
2001
42
Triple A syndrome mimicking cystic fibrosis. (10714761)
2000
43
Xerostomia in patients with triple A syndrome--a newly recognised finding. (11131343)
2000
44
Linkage disequilibrium in inbred North African families allows fine genetic and physical mapping of triple A syndrome. (10951524)
2000
45
Triple A syndrome--clinical aspects and molecular genetics. (11196451)
2000
46
High-resolution transcript map of the region spanning D12S1629 and D12S312 at chromosome 12q13: triple A syndrome-linked region. (11042153)
2000
47
Adrenal insufficiency after achalasia in the triple-A syndrome. (8775483)
1996
48
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
49
Variant of the Triple A syndrome. (7945119)
1994
50
Achalasia-alacrima-ACTH insensitivity syndrome (Triple-A-syndrome). (8253654)
1993

Variations for Triple-a Syndrome

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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Triple-a Syndrome:

64
id Symbol AA change Variation ID SNP ID
1AAASp.Gln15LysVAR_012804
2AAASp.His160ArgVAR_012805
3AAASp.Ser263ProVAR_012806rs121918550

Clinvar genetic disease variations for Triple-a Syndrome:

1
id Gene Name Type Significance SNP ID Assembly Location
1AAASNM_015665.5(AAAS): c.934C> T (p.Arg312Ter)single nucleotide variantPathogenicrs121918547GRCh37Chr 12, 53702942: 53702942
2AAASNM_015665.5(AAAS): c.1432C> T (p.Arg478Ter)single nucleotide variantPathogenicrs121918548GRCh37Chr 12, 53701482: 53701482
3AAASNM_015665.5(AAAS): c.980dupT (p.Ser328Ilefs)duplicationPathogenicrs387906326GRCh37Chr 12, 53702759: 53702760
4AAASAAAS, IVS4AS, A-G, -2single nucleotide variantPathogenic
5AAASAAAS, IVS14DS, G-A, +1single nucleotide variantPathogenic
6AAASNM_015665.5(AAAS): c.43C> A (p.Gln15Lys)single nucleotide variantPathogenicrs121918549GRCh37Chr 12, 53715207: 53715207
7AAASNM_015665.5(AAAS): c.787T> C (p.Ser263Pro)single nucleotide variantPathogenicrs121918550GRCh37Chr 12, 53703408: 53703408
8AAASAAAS, IVS11, G-A, +1single nucleotide variantPathogenic

Expression for genes affiliated with Triple-a Syndrome

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Triple-a Syndrome

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Pathways for genes affiliated with Triple-a Syndrome

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50PathCards, 38NCBI BioSystems Database, 53QIAGEN, 30KEGG, 60Thomson Reuters
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Pathways related to Triple-a Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5POMC, SMARCD1
2
Show member pathways
9.4SMARCD1, SMARCD2
3
Show member pathways
Prostate Cancer38
Integrated Cancer pathway38
Steroid Biosynthesis38
9.4SMARCD2, SMARCD1
4
Show member pathways
Development Ligand dependent activation of the ESR1 AP 1 pathway60
9.4SMARCD2, SMARCD1
5
Show member pathways
9.4SMARCD1, SMARCD2

Compounds for genes affiliated with Triple-a Syndrome

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45Novoseek
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Compounds related to Triple-a Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1acth459.7AAAS, POMC

GO Terms for genes affiliated with Triple-a Syndrome

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16Gene Ontology
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Cellular components related to Triple-a Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1SWI/SNF complexGO:0165149.4SMARCD1, SMARCD2

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

idNameGO IDScoreTop Affiliating Genes
1chromatin remodelingGO:0063389.4SMARCD1, SMARCD2
2nucleosome disassemblyGO:0063379.3SMARCD1, SMARCD2
3regulation of transcription from RNA polymerase II promoterGO:0063578.7BRWD1, SMARCD1, SMARCD2

Products for genes affiliated with Triple-a Syndrome

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Sources for Triple-a Syndrome

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet