MCID: ACH037
MIFTS: 38

Achalasia-Addisonianism-Alacrimia Syndrome malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Endocrine diseases

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

Characteristics:

HPO:

61
achalasia-addisonianism-alacrimia syndrome:
Onset and clinical course: childhood onset, progressive
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 231550
Disease Ontology10 DOID:0050602
MeSH36 D000309
UMLS65 C0271742

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 achalasia, and has symptoms including anisocoria, adrenocorticotropin (acth) receptor (acthr) defect and hypocortisolemia. An important gene associated with Achalasia-Addisonianism-Alacrimia Syndrome is AAAS (Aladin WD Repeat Nucleoporin), and among its related pathways is Fructose and mannose metabolism. Affiliated tissues include skin, heart and kidney.

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 81)
idRelated DiseaseScoreTop Affiliating Genes
1abdominal aortic aneurysm11.9
2achalasia11.7
3familial abdominal aortic aneurysm11.7
4alacrima, achalasia, and mental retardation syndrome10.5
5gmppa-cdg10.4
6rheumatoid arthritis10.3
7arthritis10.3
8hereditary sensory neuropathy10.3AAAS, POMC
9spinocerebellar ataxia 2810.3MC2R, POMC
10adrenal gland pheochromocytoma10.3MC2R, POMC
11central nervous system childhood germ cell tumor10.2AAAS, NNT
12bone mineral density, low10.2NNT, POMC
13breast cancer10.2
14leukemia10.2
15myeloid leukemia10.2
16adrenal gland hyperfunction10.2NNT, POMC
17lymphoma10.1
18sarcoma10.1
19cardiomyopathy10.1
20endotheliitis10.1
21ethmoid sinus inverted papilloma10.1MC2R, POMC
22plantar wart10.1MC2R, POMC
23pericarditis10.1MC2R, NNT, POMC
24familial hypersecretion of adrenal androgens10.1MC2R, NNT, POMC
25hiv-110.0
26chediak-higashi syndrome10.0
27carnitine-acylcarnitine translocase deficiency10.0
28myelodysplastic syndrome10.0
29cystic fibrosis10.0
30ehlers-danlos syndrome, type viii10.0
31insulin-like growth factor i10.0
32chondromalacia patellae10.0
33dilated cardiomyopathy10.0
34gingival recession10.0
35hepatitis10.0
36neutropenia10.0
37severe combined immunodeficiency10.0
38lambert-eaton myasthenic syndrome10.0
39sleep apnea10.0
40obstructive sleep apnea10.0
41discharging ear10.0
42dirofilariasis10.0
43hypertrophic cardiomyopathy10.0
44hellp syndrome10.0
45uveitis10.0
46ehlers-danlos syndrome10.0
47tuberous sclerosis10.0
48biliary atresia10.0
49personality disorder10.0
50hereditary multiple exostoses10.0

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

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

Anatomical Context for Achalasia-Addisonianism-Alacrimia Syndrome

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

33
Skin, Heart, Kidney, 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 pathwaysScoreTop 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
1biosynthetic processGO:00090589.9GMPPA, GMPPB
2post-translational protein modificationGO:00436879.2AAAS, GMPPA, 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