AAAS
MCID: ACH022
MIFTS: 54

Achalasia-Addisonianism-Alacrima Syndrome (AAAS)

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

Aliases & Classifications for Achalasia-Addisonianism-Alacrima Syndrome

MalaCards integrated aliases for Achalasia-Addisonianism-Alacrima Syndrome:

Name: Achalasia-Addisonianism-Alacrima Syndrome 58 26 76
Allgrove Syndrome 58 12 54 26 76 56
Achalasia-Addisonianism-Alacrimia Syndrome 58 12 77 13 41
Alacrima-Achalasia-Adrenal Insufficiency Neurologic Disorder 58 54 26 76
Triple-a Syndrome 58 12 76 15
Glucocorticoid Deficiency with Achalasia 30 6 74
Triple a Syndrome 77 54 26
Aaa Syndrome 77 54 26
Glucocorticoid Deficiency and Achalasia 58 76
Alacrima-Achalasia-Addisonianism 58 76
Addisonian-Achalasia Syndrome 58 76
Hypoadrenalism with Achalasia 58 76
Aaas 58 76
Aaa 54 26
Acth-Resistant Adrenal Insufficiency with Achalasia and Alacrima 76
Acth-Resistant Adrenal Insufficiency, Achalasia and Alacrima 58
Achalasia Addisonianism Alacrimia Syndrome 54
Achalasia Addisonianism Alacrima Syndrome 38
Adrenal Cortical Hypofunction 74
Addisonian Achalasia Syndrome 54
Achalasia-Addisonian Syndrome 26
Achalasia Alacrima Syndrome 54
Achalasia-Alacrima Syndrome 26
Adrenal Gland Hypofunction 74
Adrenal Insufficiency 45
Allgrove's Syndrome 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
onset in early childhood
adrenal insufficiency usually develops later (first decade)
neurologic symptoms may develop decades later
variable neurologic phenotype


HPO:

33
achalasia-addisonianism-alacrima syndrome:
Onset and clinical course childhood onset progressive
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Achalasia-Addisonianism-Alacrima Syndrome

NIH Rare Diseases : 54 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.

MalaCards based summary : Achalasia-Addisonianism-Alacrima Syndrome, also known as allgrove syndrome, is related to hypoadrenocorticism, familial and lipoid congenital adrenal hyperplasia, and has symptoms including ataxia and muscle weakness. An important gene associated with Achalasia-Addisonianism-Alacrima Syndrome is AAAS (Aladin WD Repeat Nucleoporin), and among its related pathways/superpathways is Diseases of metabolism. Affiliated tissues include adrenal gland, skin and kidney, and related phenotypes are seizures and achalasia

Disease Ontology : 12 An autosomal recessive disease characterized by achalasia, adrenal insufficiency and alacrima and has material basis in mutations in the AAAS gene that encodes ALADIN within the nuclear envelope and results in dysfunction of the autonomic nervous system.

Genetics Home Reference : 26 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 : 76 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.

Wikipedia : 77 Triple-A syndrome or AAA syndrome, is a rare autosomal recessive congenital disorder. In most cases,... more...

Description from OMIM: 231550

Related Diseases for Achalasia-Addisonianism-Alacrima Syndrome

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

(show top 50) (show all 374)
# Related Disease Score Top Affiliating Genes
1 hypoadrenocorticism, familial 33.3 MC2R POMC
2 lipoid congenital adrenal hyperplasia 32.1 MC2R POMC
3 familial glucocorticoid deficiency 31.9 MC2R POMC
4 glucocorticoid deficiency 1 31.8 MC2R POMC
5 adrenal insufficiency, congenital, with 46,xy sex reversal, partial or complete 31.4 AAAS POMC SGPL1
6 achalasia 29.5 AAAS MC2R TRAPPC11
7 adrenocortical carcinoma, hereditary 29.3 MC2R POMC
8 secondary adrenal insufficiency 12.6
9 acute adrenal insufficiency 12.6
10 obesity, early-onset, with adrenal insufficiency and red hair 12.6
11 aortic aneurysm, familial abdominal, 1 12.2
12 inherited isolated adrenal insufficiency due to partial cyp11a1 deficiency 12.2
13 nephrotic syndrome, type 14 11.9
14 immunodeficiency, common variable, 10 11.9
15 immunodeficiency 54 11.8
16 adrenoleukodystrophy 11.6
17 adrenomyeloneuropathy 11.5
18 aortic aneurysm 11.5
19 autoimmune addison disease 11.5
20 glycerol kinase deficiency 11.4
21 stiff-person syndrome 11.4
22 acth deficiency, isolated 11.4
23 autoimmune polyendocrine syndrome, type ii 11.4
24 adrenomyodystrophy 11.4
25 adrenal hypoplasia, congenital 11.3
26 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 11.3
27 alacrima, achalasia, and mental retardation syndrome 11.2
28 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies 11.2
29 esophageal disease 11.2
30 idiopathic achalasia 11.2
31 spastic paraparesis 11.2
32 gmppa-cdg 11.1
33 glucocorticoid deficiency 2 11.1
34 alopecia, neurologic defects, and endocrinopathy syndrome 11.1
35 glucocorticoid deficiency 4 with or without mineralocorticoid deficiency 11.1
36 glucocorticoid deficiency 5 11.1
37 childhood-onset cerebral x-linked adrenoleukodystrophy 11.1
38 diamond-blackfan anemia 11.1
39 autoimmune polyendocrine syndrome type 1 11.1
40 pituitary apoplexy 11.1
41 hypoadrenalism 11.1
42 hypoaldosteronism 11.1
43 neonatal adrenoleukodystrophy 11.1
44 breast cancer 10.6
45 phakomatosis spilorosea 10.5
46 antiphospholipid syndrome 10.4
47 liver cirrhosis 10.2
48 conn's syndrome 10.2
49 lymphoma 10.2
50 paraplegia 10.2

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



Diseases related to Achalasia-Addisonianism-Alacrima Syndrome

Symptoms & Phenotypes for Achalasia-Addisonianism-Alacrima Syndrome

Human phenotypes related to Achalasia-Addisonianism-Alacrima Syndrome:

33 (show all 37)
# Description HPO Frequency HPO Source Accession
1 seizures 33 hallmark (90%) HP:0001250
2 achalasia 33 hallmark (90%) HP:0002571
3 generalized hyperpigmentation 33 hallmark (90%) HP:0007440
4 adrenal insufficiency 33 hallmark (90%) HP:0000846
5 visual impairment 33 frequent (33%) HP:0000505
6 short stature 33 frequent (33%) HP:0004322
7 palmoplantar keratoderma 33 frequent (33%) HP:0000982
8 ataxia 33 occasional (7.5%) HP:0001251
9 muscular hypotonia 33 occasional (7.5%) HP:0001252
10 hyperreflexia 33 occasional (7.5%) HP:0001347
11 respiratory insufficiency 33 occasional (7.5%) HP:0002093
12 developmental regression 33 occasional (7.5%) HP:0002376
13 microcephaly 33 occasional (7.5%) HP:0000252
14 sensorineural hearing impairment 33 occasional (7.5%) HP:0000407
15 optic atrophy 33 occasional (7.5%) HP:0000648
16 pes cavus 33 occasional (7.5%) HP:0001761
17 anterior hypopituitarism 33 occasional (7.5%) HP:0000830
18 iris coloboma 33 occasional (7.5%) HP:0000612
19 motor axonal neuropathy 33 occasional (7.5%) HP:0007002
20 abnormality of the calf musculature 33 occasional (7.5%) HP:0001430
21 abnormality of the hypothenar eminence 33 occasional (7.5%) HP:0010486
22 plantar hyperkeratosis 33 occasional (7.5%) HP:0007556
23 intellectual disability 33 HP:0001249
24 dysarthria 33 HP:0001260
25 muscle weakness 33 HP:0001324
26 global developmental delay 33 HP:0001263
27 abnormality of visual evoked potentials 33 HP:0000649
28 babinski sign 33 HP:0003487
29 decreased circulating aldosterone level 33 HP:0004319
30 decreased circulating cortisol level 33 HP:0008163
31 alacrima 33 HP:0000522
32 orthostatic hypotension 33 HP:0001278
33 hyperpigmentation of the skin 33 HP:0000953
34 palmoplantar hyperkeratosis 33 HP:0000972
35 abnormal autonomic nervous system physiology 33 HP:0012332
36 anisocoria 33 HP:0009916
37 adrenocorticotropin receptor defect 33 HP:0008259

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
ataxia
dysarthria
muscle weakness
hyperreflexia
developmental delay
more
Head And Neck Eyes:
optic atrophy
alacrima
anisocoria due to autonomic dysfunction

Abdomen Gastrointestinal:
achalasia

Skin Nails Hair Skin:
hyperpigmentation
hyperkeratosis of the palms and soles
abnormal sweating due to autonomic dysfunction

Muscle Soft Tissue:
distal muscle weakness and atrophy

Laboratory Abnormalities:
schirmer test shows alacrima

Head And Neck Head:
microcephaly

Growth Height:
short stature

Neurologic Peripheral Nervous System:
motor axonal neuropathy

Cardiovascular:
abnormal cardiovascular reflexes due to autonomic dysfunction
postural hypotension

Endocrine Features:
adrenocorticotropic hormone (acth)-resistant adrenal insufficiency
glucocorticoid insufficiency
mineralocorticoid insufficiency (in 15%)

Clinical features from OMIM:

231550

UMLS symptoms related to Achalasia-Addisonianism-Alacrima Syndrome:


ataxia, muscle weakness

MGI Mouse Phenotypes related to Achalasia-Addisonianism-Alacrima Syndrome:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.35 AAAS LIG1 MC2R POMC SGPL1
2 homeostasis/metabolism MP:0005376 9.17 AAAS APTX LIG1 MC2R POMC SGPL1

Drugs & Therapeutics for Achalasia-Addisonianism-Alacrima Syndrome

Genetic Tests for Achalasia-Addisonianism-Alacrima Syndrome

Genetic tests related to Achalasia-Addisonianism-Alacrima Syndrome:

# Genetic test Affiliating Genes
1 Glucocorticoid Deficiency with Achalasia 30 AAAS

Anatomical Context for Achalasia-Addisonianism-Alacrima Syndrome

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

42
Adrenal Gland, Skin, Kidney, Heart, Testes, Brain, Tongue

Publications for Achalasia-Addisonianism-Alacrima Syndrome

Articles related to Achalasia-Addisonianism-Alacrima Syndrome:

(show top 50) (show all 61)
# Title Authors Year
1
Endoscopic Management of Recurrent Dysphagia in a Patient With Allgrove Syndrome. ( 27683965 )
2019
2
Per-oral endoscopic myotomy for esophageal achalasia in a case of Allgrove syndrome. ( 29383495 )
2018
3
Allgrove syndrome and motor neuron disease. ( 30069287 )
2018
4
"Crying without tears" as an early diagnostic sign-post of triple A (Allgrove) syndrome: two case reports. ( 29334914 )
2018
5
Clinical and molecular report of c.1331 + 1G > A mutation of the AAAS gene in a Moroccan family with Allgrove syndrome: a case report. ( 29866068 )
2018
6
Allgrove syndrome: case report of 7 years old boy from Bahawalpur. ( 30108399 )
2018
7
Clinical decision making and application of an active rehabilitation program for a person with the neuromuscular symptoms of Allgrove syndrome: a case report. ( 30501443 )
2018
8
Muscle Pathology as a Diagnostic Clue to Allgrove Syndrome. ( 28371804 )
2017
9
Allgrove Syndrome: Adrenal Insufficiency with Hypertensive Encephalopathy. ( 27671188 )
2016
10
Splicing Defects in the AAAS Gene Leading to both Exon Skipping and Partial Intron Retention in a Tunisian Patient with Allgrove Syndrome. ( 27414811 )
2016
11
Allgrove syndrome with prominent neurological symptoms. Case Report. ( 27618595 )
2016
12
Poorly Controlled Congenital Hypothyroidism due to an Underlying Allgrove Syndrome. ( 27255745 )
2016
13
Achalasia and amyotrophic lateral sclerosis as part of Allgrove syndrome. ( 27381157 )
2016
14
Molecular Analysis of Libyan Families with Allgrove Syndrome: Geographic Expansion of the Ancestral Mutation c.1331+1G>A in North Africa. ( 26595337 )
2016
15
Clinical and Genetic Characterization of 26 Tunisian Patients with Allgrove Syndrome. ( 27133709 )
2016
16
Three cases of triple A syndrome (Allgrove syndrome) in pediatric surgeons' view. ( 27385299 )
2016
17
Triple A to triple S: From diagnosis, to anesthetic management of Allgrove syndrome. ( 27555148 )
2016
18
Edentulous child with Allgrove syndrome: a rare case report. ( 27895694 )
2016
19
Allgrove syndrome: a report of a unique case characterised by peculiar dental findings resembling those of ectodermal dysplasia. ( 26637259 )
2015
20
Identification of AAAS gene mutation in Allgrove syndrome: A report of three cases. ( 26622478 )
2015
21
Late onset adrenal insufficiency and achalasia in Allgrove syndrome. ( 25721836 )
2015
22
Anaesthetic management of a patient with Allgrove syndrome. ( 25624539 )
2014
23
The genetic basis of triple A (Allgrove) syndrome in a Greek family. ( 23073554 )
2013
24
Triple A (Allgrove) syndrome: an unusual association with syringomyelia. ( 23800107 )
2013
25
A case of late-onset allgrove syndrome presenting with predominant autonomic dysfunction. ( 23956580 )
2013
26
Associations with hypoglycemia are useful: a case report of Allgrove syndrome. ( 23161311 )
2012
27
Neurological features in adult Triple-A (Allgrove) syndrome. ( 21656342 )
2012
28
Allgrove syndrome. ( 22584989 )
2012
29
Administration of anesthesia in a patient with allgrove syndrome. ( 22606402 )
2012
30
A Case of Allgrove Syndrome with a Novel IVS7 +1 G>A Mutation of The AAAS Gene. ( 23926405 )
2012
31
Mutation Spectra of the AAAS Gene in Iranian Families with Allgrove Syndrome. ( 21565631 )
2011
32
Wernicke's encephalopathy in a patient with triple A (Allgrove) syndrome. ( 21445602 )
2011
33
Clinical and manometric characteristics of Allgrove syndrome. ( 21865973 )
2011
34
Two Italian patients with novel AAAS gene mutation expand allelic and phenotypic spectrum of triple A (Allgrove) syndrome. ( 20447142 )
2010
35
Two patients with an identical novel mutation in the AAAS gene and similar phenotype of triple A (Allgrove) syndrome. ( 20200814 )
2010
36
Triple A or Allgrove syndrome. A case report with ophthalmic abnormalities and a novel mutation in the AAAS gene. ( 19172511 )
2009
37
The small, spastic, and furrowed tongue of Allgrove syndrome. ( 19365062 )
2009
38
Allgrove syndrome in a Mexican American family is caused by an ancestral mutation derived from North Africa. ( 18261130 )
2008
39
[Allgrove syndrome in the mainland of China: clinical report and mutation analysis]. ( 17880786 )
2007
40
Case report of adult-onset Allgrove syndrome. ( 18175081 )
2007
41
Allgrove syndrome. ( 17978460 )
2007
42
Allgrove syndrome with features of familial dysautonomia: a novel mutation in the AAAS gene. ( 16938764 )
2006
43
A novel DNA sequence variation in the first genetically confirmed allgrove syndrome in iran. ( 19078797 )
2006
44
Allgrove syndrome: reports of cases and literature review. ( 19858583 )
2006
45
The diagnosis of adrenal insufficiency in a patient with Allgrove syndrome and a novel mutation in the ALADIN gene. ( 15690314 )
2005
46
Familial occurrence of adrenocortical insufficiency in two brothers with Allgrove syndrome. A case report of 4A (Allgrove) syndrome with epilepsy and a new AAAS gene mutation. ( 16264411 )
2005
47
Two cases of Allgrove syndrome with mutations in the AAAS gene. ( 15516781 )
2004
48
Allgrove syndrome: when a recognisable paediatric disorder occurs in adulthood. ( 14723589 )
2004
49
Allgrove syndrome--a syndrome of primary adrenocortical insufficiency with achalasia of the cardia and deficient tear production. ( 14621049 )
2003
50
Myopathy with Allgrove syndrome. ( 14765946 )
2003

Variations for Achalasia-Addisonianism-Alacrima Syndrome

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

76
# Symbol AA change Variation ID SNP ID
1 AAAS p.Gln15Lys VAR_012804 rs121918549
2 AAAS p.His160Arg VAR_012805 rs129783112
3 AAAS p.Ser263Pro VAR_012806 rs121918550

ClinVar genetic disease variations for Achalasia-Addisonianism-Alacrima Syndrome:

6 (show top 50) (show all 89)
# Gene Variation Type Significance SNP ID Assembly Location
1 AAAS NM_015665.5(AAAS): c.938T> C (p.Val313Ala) single nucleotide variant Pathogenic rs773601814 GRCh38 Chromosome 12, 53309018: 53309018
2 AAAS NM_015665.5(AAAS): c.938T> C (p.Val313Ala) single nucleotide variant Pathogenic rs773601814 GRCh37 Chromosome 12, 53702802: 53702802
3 AAAS NM_001173466.1(AAAS): c.835C> T (p.Arg279Ter) single nucleotide variant Pathogenic rs121918547 GRCh37 Chromosome 12, 53702942: 53702942
4 AAAS NM_001173466.1(AAAS): c.835C> T (p.Arg279Ter) single nucleotide variant Pathogenic rs121918547 GRCh38 Chromosome 12, 53309158: 53309158
5 AAAS NM_015665.5(AAAS): c.1432C> T (p.Arg478Ter) single nucleotide variant Pathogenic rs121918548 GRCh37 Chromosome 12, 53701482: 53701482
6 AAAS NM_015665.5(AAAS): c.1432C> T (p.Arg478Ter) single nucleotide variant Pathogenic rs121918548 GRCh38 Chromosome 12, 53307698: 53307698
7 AAAS NM_015665.5(AAAS): c.980dupT (p.Ser328Ilefs) duplication Pathogenic rs387906326 GRCh37 Chromosome 12, 53702760: 53702760
8 AAAS NM_015665.5(AAAS): c.980dupT (p.Ser328Ilefs) duplication Pathogenic rs387906326 GRCh38 Chromosome 12, 53308976: 53308976
9 AAAS NM_015665.5(AAAS): c.400-2A> G single nucleotide variant Pathogenic GRCh37 Chromosome 12, 53708926: 53708926
10 AAAS NM_015665.5(AAAS): c.400-2A> G single nucleotide variant Pathogenic GRCh38 Chromosome 12, 53315142: 53315142
11 AAAS NM_015665.6(AAAS): c.43C> A (p.Gln15Lys) single nucleotide variant Pathogenic rs121918549 GRCh37 Chromosome 12, 53715207: 53715207
12 AAAS NM_015665.6(AAAS): c.43C> A (p.Gln15Lys) single nucleotide variant Pathogenic rs121918549 GRCh38 Chromosome 12, 53321423: 53321423
13 AAAS NM_015665.5(AAAS): c.787T> C (p.Ser263Pro) single nucleotide variant Pathogenic/Likely pathogenic rs121918550 GRCh37 Chromosome 12, 53703408: 53703408
14 AAAS NM_015665.5(AAAS): c.787T> C (p.Ser263Pro) single nucleotide variant Pathogenic/Likely pathogenic rs121918550 GRCh38 Chromosome 12, 53309624: 53309624
15 AAAS NM_015665.5(AAAS): c.1087+1G> A single nucleotide variant Pathogenic rs1035139364 GRCh37 Chromosome 12, 53702508: 53702508
16 AAAS NM_015665.5(AAAS): c.1087+1G> A single nucleotide variant Pathogenic rs1035139364 GRCh38 Chromosome 12, 53308724: 53308724
17 AAAS NM_015665.5(AAAS): c.1288C> T (p.Leu430Phe) single nucleotide variant Pathogenic rs121918551 GRCh37 Chromosome 12, 53701879: 53701879
18 AAAS NM_015665.5(AAAS): c.1288C> T (p.Leu430Phe) single nucleotide variant Pathogenic rs121918551 GRCh38 Chromosome 12, 53308095: 53308095
19 AAAS NM_015665.5(AAAS): c.251G> A (p.Trp84Ter) single nucleotide variant Pathogenic rs754637718 GRCh38 Chromosome 12, 53320565: 53320565
20 AAAS NM_015665.5(AAAS): c.251G> A (p.Trp84Ter) single nucleotide variant Pathogenic rs754637718 GRCh37 Chromosome 12, 53714349: 53714349
21 AAAS NM_015665.5(AAAS): c.679T> C (p.Leu227=) single nucleotide variant Conflicting interpretations of pathogenicity rs80027466 GRCh37 Chromosome 12, 53708092: 53708092
22 AAAS NM_015665.5(AAAS): c.679T> C (p.Leu227=) single nucleotide variant Conflicting interpretations of pathogenicity rs80027466 GRCh38 Chromosome 12, 53314308: 53314308
23 AAAS NM_015665.5(AAAS): c.855C> T (p.Phe285=) single nucleotide variant Benign rs1546808 GRCh37 Chromosome 12, 53703021: 53703021
24 AAAS NM_015665.5(AAAS): c.855C> T (p.Phe285=) single nucleotide variant Benign rs1546808 GRCh38 Chromosome 12, 53309237: 53309237
25 AAAS NM_015665.5(AAAS): c.1331+1G> A single nucleotide variant Pathogenic rs150511103 GRCh37 Chromosome 12, 53701835: 53701835
26 AAAS NM_015665.5(AAAS): c.1331+1G> A single nucleotide variant Pathogenic rs150511103 GRCh38 Chromosome 12, 53308051: 53308051
27 AAAS NM_015665.5(AAAS): c.1597G> A (p.Gly533Arg) single nucleotide variant Likely benign rs34451260 GRCh37 Chromosome 12, 53701317: 53701317
28 AAAS NM_015665.5(AAAS): c.1597G> A (p.Gly533Arg) single nucleotide variant Likely benign rs34451260 GRCh38 Chromosome 12, 53307533: 53307533
29 AAAS NM_015665.5(AAAS): c.1557T> C (p.Thr519=) single nucleotide variant Likely benign rs112987708 GRCh37 Chromosome 12, 53701357: 53701357
30 AAAS NM_015665.5(AAAS): c.1557T> C (p.Thr519=) single nucleotide variant Likely benign rs112987708 GRCh38 Chromosome 12, 53307573: 53307573
31 AAAS NM_015665.5(AAAS): c.1450C> G (p.Leu484Val) single nucleotide variant Uncertain significance rs764298213 GRCh37 Chromosome 12, 53701464: 53701464
32 AAAS NM_015665.5(AAAS): c.1450C> G (p.Leu484Val) single nucleotide variant Uncertain significance rs764298213 GRCh38 Chromosome 12, 53307680: 53307680
33 AAAS NM_015665.5(AAAS): c.912T> G (p.Ala304=) single nucleotide variant Uncertain significance rs138749872 GRCh38 Chromosome 12, 53309180: 53309180
34 AAAS NM_015665.5(AAAS): c.912T> G (p.Ala304=) single nucleotide variant Uncertain significance rs138749872 GRCh37 Chromosome 12, 53702964: 53702964
35 AAAS NM_015665.5(AAAS): c.414T> C (p.Asp138=) single nucleotide variant Likely benign rs11540353 GRCh38 Chromosome 12, 53315126: 53315126
36 AAAS NM_015665.5(AAAS): c.414T> C (p.Asp138=) single nucleotide variant Likely benign rs11540353 GRCh37 Chromosome 12, 53708910: 53708910
37 AAAS NM_015665.5(AAAS): c.259G> T (p.Val87Leu) single nucleotide variant Uncertain significance rs766985003 GRCh38 Chromosome 12, 53315775: 53315775
38 AAAS NM_015665.5(AAAS): c.259G> T (p.Val87Leu) single nucleotide variant Uncertain significance rs766985003 GRCh37 Chromosome 12, 53709559: 53709559
39 AAAS NM_015665.5(AAAS): c.258T> A (p.Asp86Glu) single nucleotide variant Uncertain significance rs749899811 GRCh38 Chromosome 12, 53315776: 53315776
40 AAAS NM_015665.5(AAAS): c.258T> A (p.Asp86Glu) single nucleotide variant Uncertain significance rs749899811 GRCh37 Chromosome 12, 53709560: 53709560
41 AAAS NM_015665.5(AAAS): c.11T> C (p.Leu4Pro) single nucleotide variant Uncertain significance rs886049652 GRCh38 Chromosome 12, 53321455: 53321455
42 AAAS NM_015665.5(AAAS): c.11T> C (p.Leu4Pro) single nucleotide variant Uncertain significance rs886049652 GRCh37 Chromosome 12, 53715239: 53715239
43 AAAS NM_015665.5(AAAS): c.1498C> T (p.Arg500Trp) single nucleotide variant Uncertain significance rs886049649 GRCh37 Chromosome 12, 53701416: 53701416
44 AAAS NM_015665.5(AAAS): c.1498C> T (p.Arg500Trp) single nucleotide variant Uncertain significance rs886049649 GRCh38 Chromosome 12, 53307632: 53307632
45 AAAS NM_015665.5(AAAS): c.1416+8C> T single nucleotide variant Uncertain significance rs370325323 GRCh37 Chromosome 12, 53701621: 53701621
46 AAAS NM_015665.5(AAAS): c.1416+8C> T single nucleotide variant Uncertain significance rs370325323 GRCh38 Chromosome 12, 53307837: 53307837
47 AAAS NM_015665.5(AAAS): c.1301G> A (p.Arg434Gln) single nucleotide variant Uncertain significance rs112579822 GRCh37 Chromosome 12, 53701866: 53701866
48 AAAS NM_015665.5(AAAS): c.1301G> A (p.Arg434Gln) single nucleotide variant Uncertain significance rs112579822 GRCh38 Chromosome 12, 53308082: 53308082
49 AAAS NM_015665.5(AAAS): c.996+12C> T single nucleotide variant Uncertain significance rs200312077 GRCh37 Chromosome 12, 53702732: 53702732
50 AAAS NM_015665.5(AAAS): c.996+12C> T single nucleotide variant Uncertain significance rs200312077 GRCh38 Chromosome 12, 53308948: 53308948

Expression for Achalasia-Addisonianism-Alacrima Syndrome

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

Pathways for Achalasia-Addisonianism-Alacrima Syndrome

GO Terms for Achalasia-Addisonianism-Alacrima Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 neuropeptide signaling pathway GO:0007218 8.96 MC2R POMC
2 DNA ligation GO:0006266 8.62 APTX LIG1

Sources for Achalasia-Addisonianism-Alacrima Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
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38 KEGG
39 LifeMap
41 LOVD
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45 MeSH
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47 MGI
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63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
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72 TGDB
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