MCID: ACH037
MIFTS: 32

Achalasia-Addisonianism-Alacrimia Syndrome malady

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

Summaries for Achalasia-Addisonianism-Alacrimia Syndrome

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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 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). Affiliated tissues include skin, kidney and adrenal gland.

NIH Rare Diseases:41 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:45 231550

Aliases & Classifications for Achalasia-Addisonianism-Alacrimia Syndrome

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Achalasia-Addisonianism-Alacrimia Syndrome, Aliases & Descriptions:

Name: Achalasia-Addisonianism-Alacrimia Syndrome 45 9 10
Allgrove Syndrome 9 41 21 43
Alacrima-Achalasia-Adrenal Insufficiency Neurologic Disorder 41 21
Achalasia - Addisonianism - Alacrima Syndrome 41 20
Achalasia-Addisonianism-Alacrima Syndrome 45 21
Glucocorticoid Deficiency with Achalasia 22 60
Triple a Syndrome 41 21
Triple-a Syndrome 9 11
Aaa Syndrome 41 21
Aaa 41 21
Adrenal Insufficiency - Achalasia - Alacrima 41
 
Achalasia Addisonianism Alacrimia Syndrome 41
Achalasia-Addisonian Syndrome 21
Addisonian Achalasia Syndrome 41
Achalasia Alacrima Syndrome 41
Achalasia-Alacrima Syndrome 21
Quaternary a Syndrome 41
Double a Syndrome 41
4a Syndrome 41
3a Syndrome 41
2a Syndrome 41


Classifications:



External Ids:

OMIM45 231550
Disease Ontology9 DOID:0050602

Related Diseases for Achalasia-Addisonianism-Alacrimia Syndrome

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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 vision 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 disorder 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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Drug clinical trials:

Search ClinicalTrials for Achalasia-Addisonianism-Alacrimia Syndrome

Search 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 Syndrome20 AAAS
2 Glucocorticoid Deficiency with Achalasia22

Anatomical Context for Achalasia-Addisonianism-Alacrimia Syndrome

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

31
Skin, 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:

62
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:

6
id Gene Variation 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 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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Compounds for genes affiliated with Achalasia-Addisonianism-Alacrimia Syndrome

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

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Products for genes affiliated with Achalasia-Addisonianism-Alacrimia Syndrome

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Sources for Achalasia-Addisonianism-Alacrimia Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet