MCID: ACH037
MIFTS: 43

Achalasia-Addisonianism-Alacrimia Syndrome malady

Genetic diseases, Rare diseases, Neuronal diseases, Endocrine diseases categories

Aliases & Classifications for Achalasia-Addisonianism-Alacrimia Syndrome

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Aliases & Descriptions for Achalasia-Addisonianism-Alacrimia Syndrome:

Name: Achalasia-Addisonianism-Alacrimia Syndrome 49 10 11
Allgrove Syndrome 10 45 22 23 47 67
Alacrima-Achalasia-Adrenal Insufficiency Neurologic Disorder 45 23 67
Achalasia-Addisonianism-Alacrima Syndrome 22 23 67
Triple-a Syndrome 10 12 67
Triple a Syndrome 45 22 23
Aaa Syndrome 45 22 23
Glucocorticoid Deficiency with Achalasia 24 65
Aaa 45 23
Acth-Resistant Adrenal Insufficiency with Achalasia and Alacrima 67
Achalasia Addisonianism Alacrimia Syndrome 45
 
Glucocorticoid Deficiency and Achalasia 67
Alacrima-Achalasia-Addisonianism 67
Addisonian Achalasia Syndrome 45
Achalasia-Addisonian Syndrome 23
Hypoadrenalism with Achalasia 67
Addisonian-Achalasia Syndrome 67
Achalasia Alacrima Syndrome 45
Achalasia-Alacrima Syndrome 23
Allgrove's Syndrome 67
Aaas 67


Classifications:



External Ids:

OMIM49 231550
Disease Ontology10 DOID:0050602
MeSH36 D000309

Summaries for Achalasia-Addisonianism-Alacrimia Syndrome

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NIH Rare Diseases:45 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. several authors published descriptions of a more global autonomic disturbance associated with the original three characteristics, leading one author to suggest the name 4a syndrome (adrenal insufficiency, achalasia, alacrima, autonomic abnormalities). specific autonomic disturbances described in this syndrome include abnormal pupillary reflexes, poor heart rate variability, and orthostatic hypotension. affected individuals may also have 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. alacrimia is treated with artificial tears while achalasia may need surgery with either pneumatic dilatation or heller's myotomy. adrenal insufficiency is treated with glucocorticoid and if necessary mineralocorticoid replacement. last updated: 9/24/2015

MalaCards based summary: Achalasia-Addisonianism-Alacrimia Syndrome, also known as allgrove syndrome, is related to abdominal aortic aneurysm and aneurysm, and has symptoms including autosomal recessive inheritance, microcephaly and alacrima. An important gene associated with Achalasia-Addisonianism-Alacrimia Syndrome is AAAS (Achalasia, Adrenocortical Insufficiency, Alacrimia), and among its related pathways is Fructose and mannose metabolism. Affiliated tissues include skin, kidney and heart.

Genetics Home Reference:23 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.

UniProtKB/Swiss-Prot:67 Achalasia-addisonianism-alacrima syndrome: An autosomal recessive disorder characterized by adreno-corticotropic hormone (ACTH)-resistant adrenal failure, achalasia of the esophageal cardia and alacrima. The syndrome is associated with variable and progressive neurological impairment involving the central, peripheral, and autonomic nervous system. Other features such as palmoplantar hyperkeratosis, short stature, facial dysmorphy and osteoporosis may also be present.

Description from OMIM:49 231550

Related Diseases for Achalasia-Addisonianism-Alacrimia Syndrome

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Diseases related to Achalasia-Addisonianism-Alacrimia Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 187)
idRelated DiseaseScoreTop Affiliating Genes
1abdominal aortic aneurysm10.8
2aneurysm10.8
3aortic aneurysm10.8
4familial abdominal aortic aneurysm10.7
5aortic disease10.7
6achalasia10.5
7familial glucocorticoid deficiency10.4
8bowman's membrane folds or rupture10.4
9coronary aneurysm10.3
10heart aneurysm10.3
11paraplegia10.3
12spasticity10.3
13ischemia10.3
14hereditary spastic paraplegia10.2
15vascular disease10.2
16peripheral vascular disease10.2
17jmp syndrome10.2AAAS, POMC
18spinocerebellar ataxia 2810.2MC2R, POMC
19adrenal gland pheochromocytoma10.2MC2R, POMC
20syringomyelia10.2
21hypoglycemia10.2
22autonomic dysfunction10.2
23dysautonomia10.2
24esophagitis10.2AAAS, NNT
25myocardial infarction10.1
26stroke, ischemic10.1
27dystonia10.1
28factitious disorder10.1
29glucose metabolism disease10.1
30neuropathy10.1
31alacrima, achalasia, and mental retardation syndrome10.1
32bone mineral density, low10.1NNT, POMC
33progeria10.1NNT, POMC
34adrenal cortex disease10.1MC2R, POMC
35adult astrocytic tumour10.1MC2R, POMC
36autoimmune disease 110.0
37greenberg skeletal dysplasia10.0
38diabetes mellitus, insulin-dependent, 710.0
39breast cancer10.0
40coronary heart disease 510.0
41diabetes mellitus, insulin-dependent, 2310.0
42alzheimer disease10.0
43diabetes mellitus, insulin-dependent, 510.0
44diabetes mellitus, ketosis-prone10.0
45diabetes mellitus, insulin-dependent10.0
46coronary heart disease 410.0
47bone fracture10.0
48congestive heart failure10.0
49newcastle disease10.0
50conversion disorder10.0

Graphical network of the top 20 diseases related to Achalasia-Addisonianism-Alacrimia Syndrome:



Diseases related to achalasia-addisonianism-alacrimia syndrome

Symptoms for Achalasia-Addisonianism-Alacrimia Syndrome

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Symptoms by clinical synopsis from OMIM:

231550

Clinical features from OMIM:

231550

HPO human phenotypes related to Achalasia-Addisonianism-Alacrimia Syndrome:

(show all 25)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 microcephaly HP:0000252
3 alacrima HP:0000522
4 optic atrophy HP:0000648
5 abnormality of visual evoked potentials HP:0000649
6 hyperpigmentation of the skin HP:0000953
7 palmoplantar hyperkeratosis HP:0000972
8 intellectual disability HP:0001249
9 ataxia HP:0001251
10 dysarthria HP:0001260
11 global developmental delay HP:0001263
12 orthostatic hypotension HP:0001278
13 muscle weakness HP:0001324
14 hyperreflexia HP:0001347
15 dysautonomia HP:0002459
16 achalasia HP:0002571
17 babinski sign HP:0003487
18 progressive HP:0003676
19 hypoaldosteronism HP:0004319
20 short stature HP:0004322
21 motor axonal neuropathy HP:0007002
22 hypocortisolemia HP:0008220
23 adrenocorticotropin (acth) receptor (acthr) defect HP:0008259
24 anisocoria HP:0009916
25 childhood onset HP:0011463

Drugs & Therapeutics for Achalasia-Addisonianism-Alacrimia Syndrome

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Achalasia-Addisonianism-Alacrimia Syndrome

Genetic Tests for Achalasia-Addisonianism-Alacrimia Syndrome

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Genetic tests related to Achalasia-Addisonianism-Alacrimia Syndrome:

id Genetic test Affiliating Genes
1 Achalasia-Addisonianism-Alacrima Syndrome22 AAAS
2 Glucocorticoid Deficiency with Achalasia24

Anatomical Context for Achalasia-Addisonianism-Alacrimia Syndrome

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MalaCards organs/tissues related to Achalasia-Addisonianism-Alacrimia Syndrome:

33
Skin, Kidney, Heart, Adrenal gland

Animal Models for Achalasia-Addisonianism-Alacrimia Syndrome or affiliated genes

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Publications for Achalasia-Addisonianism-Alacrimia Syndrome

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Variations for Achalasia-Addisonianism-Alacrimia Syndrome

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UniProtKB/Swiss-Prot genetic disease variations for Achalasia-Addisonianism-Alacrimia Syndrome:

67
id Symbol AA change Variation ID SNP ID
1AAASp.Gln15LysVAR_012804
2AAASp.His160ArgVAR_012805
3AAASp.Ser263ProVAR_012806rs121918550

Clinvar genetic disease variations for Achalasia-Addisonianism-Alacrimia Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1AAASNM_015665.5(AAAS): c.938T> C (p.Val313Ala)single nucleotide variantLikely pathogenicrs773601814GRCh38Chr 12, 53309018: 53309018
2AAASNM_015665.5(AAAS): c.934C> T (p.Arg312Ter)single nucleotide variantPathogenicrs121918547GRCh37Chr 12, 53702942: 53702942
3AAASNM_015665.5(AAAS): c.1432C> T (p.Arg478Ter)single nucleotide variantPathogenicrs121918548GRCh37Chr 12, 53701482: 53701482
4AAASNM_015665.5(AAAS): c.980dupT (p.Ser328Ilefs)duplicationPathogenicrs387906326GRCh37Chr 12, 53702760: 53702760
5AAASAAAS, IVS4AS, A-G, -2single nucleotide variantPathogenic
6AAASAAAS, IVS14DS, G-A, +1single nucleotide variantPathogenic
7AAASNM_015665.5(AAAS): c.43C> A (p.Gln15Lys)single nucleotide variantPathogenicrs121918549GRCh37Chr 12, 53715207: 53715207
8AAASNM_015665.5(AAAS): c.787T> C (p.Ser263Pro)single nucleotide variantPathogenicrs121918550GRCh37Chr 12, 53703408: 53703408
9AAASAAAS, IVS11DS, G-A, +1single nucleotide variantPathogenic

Expression for genes affiliated with Achalasia-Addisonianism-Alacrimia Syndrome

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Search GEO for disease gene expression data for Achalasia-Addisonianism-Alacrimia Syndrome.

Pathways for genes affiliated with Achalasia-Addisonianism-Alacrimia Syndrome

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Pathways related to Achalasia-Addisonianism-Alacrimia Syndrome according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.5GMPPA, GMPPB

GO Terms for genes affiliated with Achalasia-Addisonianism-Alacrimia Syndrome

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Biological processes related to Achalasia-Addisonianism-Alacrimia Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1GDP-mannose biosynthetic processGO:000929810.1GMPPA, GMPPB
2biosynthetic processGO:00090589.9GMPPA, GMPPB
3DNA ligationGO:00062669.8APTX, LIG1
4response to hydrogen peroxideGO:00425429.6APTX, LIG1
5dolichol-linked oligosaccharide biosynthetic processGO:00064889.4GMPPA, GMPPB
6cellular protein metabolic processGO:00442678.9AAAS, GMPPA, GMPPB, POMC

Molecular functions related to Achalasia-Addisonianism-Alacrimia Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1nucleotidyltransferase activityGO:00167799.5GMPPA, GMPPB
2transferase activityGO:00167409.4GMPPA, GMPPB

Sources for Achalasia-Addisonianism-Alacrimia Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet