MCID: ACH022
MIFTS: 49

Achalasia-Addisonianism-Alacrima Syndrome

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

Aliases & Classifications for Achalasia-Addisonianism-Alacrima Syndrome

MalaCards integrated aliases for Achalasia-Addisonianism-Alacrima Syndrome:

Name: Achalasia-Addisonianism-Alacrima Syndrome 57 25 75 37
Allgrove Syndrome 57 12 53 25 75 55
Achalasia-Addisonianism-Alacrimia Syndrome 57 12 76 13 40
Alacrima-Achalasia-Adrenal Insufficiency Neurologic Disorder 57 53 25 75
Triple-a Syndrome 57 12 75 15
Glucocorticoid Deficiency with Achalasia 29 6 73
Triple a Syndrome 76 53 25
Aaa Syndrome 76 53 25
Glucocorticoid Deficiency and Achalasia 57 75
Alacrima-Achalasia-Addisonianism 57 75
Addisonian-Achalasia Syndrome 57 75
Hypoadrenalism with Achalasia 57 75
Achalasia-Alacrima Syndrome 25 6
Aaas 57 75
Aaa 53 25
Acth-Resistant Adrenal Insufficiency with Achalasia and Alacrima 75
Acth-Resistant Adrenal Insufficiency, Achalasia and Alacrima 57
Achalasia-Addisonianism-Alacrima Syndrome 6
Achalasia Addisonianism Alacrimia Syndrome 53
Adrenal Cortical Hypofunction 73
Addisonian Achalasia Syndrome 53
Achalasia-Addisonian Syndrome 25
Achalasia Alacrima Syndrome 53
Adrenal Gland Hypofunction 73
Adrenal Insufficiency 44
Allgrove's Syndrome 75

Characteristics:

OMIM:

57
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:

32
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 : 53 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 adrenal insufficiency, congenital, with 46,xy sex reversal, partial or complete and hypoadrenocorticism, familial, 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 intellectual disability and seizures

UniProtKB/Swiss-Prot : 75 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.

Genetics Home Reference : 25 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.

Wikipedia : 76 Triple-A syndrome or AAA syndrome, also known as achalasia-addisonianism-alacrima syndrome or Allgrove... 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 83)
# Related Disease Score Top Affiliating Genes
1 adrenal insufficiency, congenital, with 46,xy sex reversal, partial or complete 33.6 AAAS NNT POMC
2 hypoadrenocorticism, familial 32.8 MC2R POMC
3 lipoid congenital adrenal hyperplasia 31.9 MC2R POMC
4 familial glucocorticoid deficiency 31.1 MC2R NNT POMC
5 achalasia 29.1 AAAS MC2R TRAPPC11
6 acute adrenal insufficiency 12.4
7 secondary adrenal insufficiency 12.4
8 obesity, early-onset, with adrenal insufficiency and red hair 12.4
9 aortic aneurysm, familial abdominal, 1 12.1
10 inherited isolated adrenal insufficiency due to partial cyp11a1 deficiency 12.0
11 nephrotic syndrome 14 11.7
12 premature ovarian failure 7 11.7
13 immunodeficiency, common variable, 10 11.7
14 immunodeficiency 54 11.6
15 adrenoleukodystrophy 11.5
16 adrenomyeloneuropathy 11.4
17 autoimmune addison disease 11.3
18 aortic aneurysm 11.3
19 stiff-person syndrome 11.2
20 acth deficiency, isolated 11.2
21 adrenomyodystrophy 11.2
22 glycerol kinase deficiency 11.2
23 adrenal hypoplasia, congenital 11.1
24 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 11.1
25 alacrima, achalasia, and mental retardation syndrome 11.1
26 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies 11.0
27 gmppa-cdg 10.9
28 aneurysm 10.4
29 glucocorticoid deficiency 1 10.3 MC2R POMC
30 adrenal cortical adenoma 10.2 MC2R POMC
31 pituitary-dependent cushing's disease 10.1 NNT POMC
32 adrenal adenoma 10.1 MC2R POMC
33 spasticity 10.1
34 paraplegia 10.0
35 hereditary spastic paraplegia 10.0
36 breast cancer 9.9
37 hepatosplenic t-cell lymphoma 9.9
38 adrenocortical carcinoma, hereditary 9.9 MC2R POMC
39 dystonia 9.9
40 horseshoe kidney 9.9
41 lung cancer susceptibility 3 9.8
42 adenocarcinoma 9.8
43 thyroiditis 9.8
44 neuropathy 9.8
45 eosinophilia-myalgia syndrome 9.8
46 dyt1 early-onset isolated dystonia 9.8
47 adrenal rest tumor 9.8 MC2R NNT POMC
48 conn's syndrome 9.7 MC2R POMC
49 agnosia 9.7 APTX POMC
50 prostate cancer 9.6

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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Achalasia-Addisonianism-Alacrima Syndrome:

32 (show all 33)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 seizures 32 hallmark (90%) HP:0001250
3 ataxia 32 occasional (7.5%) HP:0001251
4 muscular hypotonia 32 occasional (7.5%) HP:0001252
5 dysarthria 32 HP:0001260
6 muscle weakness 32 HP:0001324
7 hyperreflexia 32 occasional (7.5%) HP:0001347
8 respiratory insufficiency 32 occasional (7.5%) HP:0002093
9 developmental regression 32 occasional (7.5%) HP:0002376
10 dysautonomia 32 HP:0002459
11 global developmental delay 32 HP:0001263
12 microcephaly 32 occasional (7.5%) HP:0000252
13 sensorineural hearing impairment 32 occasional (7.5%) HP:0000407
14 visual impairment 32 frequent (33%) HP:0000505
15 optic atrophy 32 occasional (7.5%) HP:0000648
16 short stature 32 frequent (33%) HP:0004322
17 abnormality of visual evoked potentials 32 HP:0000649
18 palmoplantar keratoderma 32 frequent (33%) HP:0000982
19 babinski sign 32 HP:0003487
20 anterior hypopituitarism 32 occasional (7.5%) HP:0000830
21 achalasia 32 hallmark (90%) HP:0002571
22 iris coloboma 32 occasional (7.5%) HP:0000612
23 generalized hyperpigmentation 32 hallmark (90%) HP:0007440
24 decreased circulating aldosterone level 32 HP:0004319
25 decreased circulating cortisol level 32 HP:0008163
26 alacrima 32 HP:0000522
27 orthostatic hypotension 32 HP:0001278
28 adrenal insufficiency 32 hallmark (90%) HP:0000846
29 hyperpigmentation of the skin 32 HP:0000953
30 palmoplantar hyperkeratosis 32 HP:0000972
31 motor axonal neuropathy 32 HP:0007002
32 anisocoria 32 HP:0009916
33 adrenocorticotropin receptor defect 32 HP:0008259

UMLS symptoms related to Achalasia-Addisonianism-Alacrima Syndrome:


ataxia, muscle weakness

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 29 AAAS

Anatomical Context for Achalasia-Addisonianism-Alacrima Syndrome

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

41
Adrenal Gland, Skin, Kidney, Heart, Testes, Brain

Publications for Achalasia-Addisonianism-Alacrima Syndrome

Articles related to Achalasia-Addisonianism-Alacrima Syndrome:

(show all 28)
# Title Authors Year
1
Per-oral endoscopic myotomy for esophageal achalasia in a case of Allgrove syndrome. ( 29383495 )
2018
2
Allgrove Syndrome: Adrenal Insufficiency with Hypertensive Encephalopathy. ( 27671188 )
2016
3
Splicing Defects in the AAAS Gene Leading to both Exon Skipping and Partial Intron Retention in a Tunisian Patient with Allgrove Syndrome. ( 27414811 )
2016
4
Allgrove syndrome with prominent neurological symptoms. Case Report. ( 27618595 )
2016
5
Poorly Controlled Congenital Hypothyroidism due to an Underlying Allgrove Syndrome. ( 27255745 )
2016
6
Allgrove syndrome: a report of a unique case characterised by peculiar dental findings resembling those of ectodermal dysplasia. ( 26637259 )
2015
7
Identification of AAAS gene mutation in Allgrove syndrome: A report of three cases. ( 26622478 )
2015
8
The genetic basis of triple A (Allgrove) syndrome in a Greek family. ( 23073554 )
2013
9
Triple A (Allgrove) syndrome: an unusual association with syringomyelia. ( 23800107 )
2013
10
A case of late-onset allgrove syndrome presenting with predominant autonomic dysfunction. ( 23956580 )
2013
11
Associations with hypoglycemia are useful: a case report of Allgrove syndrome. ( 23161311 )
2012
12
Mutation Spectra of the AAAS Gene in Iranian Families with Allgrove Syndrome. ( 21565631 )
2011
13
Two Italian patients with novel AAAS gene mutation expand allelic and phenotypic spectrum of triple A (Allgrove) syndrome. ( 20447142 )
2010
14
Triple A or Allgrove syndrome. A case report with ophthalmic abnormalities and a novel mutation in the AAAS gene. ( 19172511 )
2009
15
[Allgrove syndrome in the mainland of China: clinical report and mutation analysis]. ( 17880786 )
2007
16
Case report of adult-onset Allgrove syndrome. ( 18175081 )
2007
17
Allgrove syndrome with features of familial dysautonomia: a novel mutation in the AAAS gene. ( 16938764 )
2006
18
The diagnosis of adrenal insufficiency in a patient with Allgrove syndrome and a novel mutation in the ALADIN gene. ( 15690314 )
2005
19
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
20
Two cases of Allgrove syndrome with mutations in the AAAS gene. ( 15516781 )
2004
21
Allgrove syndrome--a syndrome of primary adrenocortical insufficiency with achalasia of the cardia and deficient tear production. ( 14621049 )
2003
22
[From gene to disease; adrenocortical insufficiency, achalasia and disrupted tear secretion: Allgrove syndrome]. ( 12497758 )
2002
23
Genetic separation of the human lacritin gene ("LACRT") and triple A (Allgrove) syndrome on 12q13. ( 12613904 )
2002
24
Clinical and genetic characterization of families with triple A (Allgrove) syndrome. ( 12429595 )
2002
25
Spectrum of mutations of the AAAS gene in Allgrove syndrome: lack of mutations in six kindreds with isolated resistance to corticotropin. ( 11701718 )
2001
26
Periventricular brain heterotopias in a child with adrenocortical insufficiency, achalasia, alacrima, and neurologic abnormalities (Allgrove syndrome). ( 10342602 )
1999
27
[Allgrove syndrome (achalasia-alacrima-adrenal gland insufficiency): report of a case]. ( 8924656 )
1996
28
Allgrove syndrome: an autosomal recessive syndrome of ACTH insensitivity, achalasia and alacrima. ( 1850671 )
1991

Variations for Achalasia-Addisonianism-Alacrima Syndrome

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

75
# Symbol AA change Variation ID SNP ID
1 AAAS p.Gln15Lys VAR_012804 rs121918549
2 AAAS p.His160Arg VAR_012805
3 AAAS p.Ser263Pro VAR_012806 rs121918550

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

6
(show top 50) (show all 83)
# Gene Variation Type Significance SNP ID Assembly Location
1 AAAS NM_001173466.1(AAAS): c.835C> T (p.Arg279Ter) single nucleotide variant Pathogenic rs121918547 GRCh37 Chromosome 12, 53702942: 53702942
2 AAAS NM_001173466.1(AAAS): c.835C> T (p.Arg279Ter) single nucleotide variant Pathogenic rs121918547 GRCh38 Chromosome 12, 53309158: 53309158
3 AAAS NM_015665.5(AAAS): c.1432C> T (p.Arg478Ter) single nucleotide variant Pathogenic rs121918548 GRCh37 Chromosome 12, 53701482: 53701482
4 AAAS NM_015665.5(AAAS): c.1432C> T (p.Arg478Ter) single nucleotide variant Pathogenic rs121918548 GRCh38 Chromosome 12, 53307698: 53307698
5 AAAS NM_015665.5(AAAS): c.980dupT (p.Ser328Ilefs) duplication Pathogenic rs387906326 GRCh37 Chromosome 12, 53702760: 53702760
6 AAAS NM_015665.5(AAAS): c.980dupT (p.Ser328Ilefs) duplication Pathogenic rs387906326 GRCh38 Chromosome 12, 53308976: 53308976
7 AAAS AAAS, IVS4AS, A-G, -2 single nucleotide variant Pathogenic
8 AAAS NM_015665.5(AAAS): c.43C> A (p.Gln15Lys) single nucleotide variant Pathogenic rs121918549 GRCh37 Chromosome 12, 53715207: 53715207
9 AAAS NM_015665.5(AAAS): c.43C> A (p.Gln15Lys) single nucleotide variant Pathogenic rs121918549 GRCh38 Chromosome 12, 53321423: 53321423
10 AAAS NM_015665.5(AAAS): c.787T> C (p.Ser263Pro) single nucleotide variant Pathogenic/Likely pathogenic rs121918550 GRCh37 Chromosome 12, 53703408: 53703408
11 AAAS NM_015665.5(AAAS): c.787T> C (p.Ser263Pro) single nucleotide variant Pathogenic/Likely pathogenic rs121918550 GRCh38 Chromosome 12, 53309624: 53309624
12 AAAS NM_015665.5(AAAS): c.1087+1G> A single nucleotide variant Pathogenic rs1035139364 GRCh37 Chromosome 12, 53702508: 53702508
13 AAAS NM_015665.5(AAAS): c.1087+1G> A single nucleotide variant Pathogenic rs1035139364 GRCh38 Chromosome 12, 53308724: 53308724
14 AAAS NM_015665.5(AAAS): c.1288C> T (p.Leu430Phe) single nucleotide variant Pathogenic rs121918551 GRCh37 Chromosome 12, 53701879: 53701879
15 AAAS NM_015665.5(AAAS): c.1288C> T (p.Leu430Phe) single nucleotide variant Pathogenic rs121918551 GRCh38 Chromosome 12, 53308095: 53308095
16 AAAS NM_015665.5(AAAS): c.251G> A (p.Trp84Ter) single nucleotide variant Pathogenic rs754637718 GRCh38 Chromosome 12, 53320565: 53320565
17 AAAS NM_015665.5(AAAS): c.251G> A (p.Trp84Ter) single nucleotide variant Pathogenic rs754637718 GRCh37 Chromosome 12, 53714349: 53714349
18 AAAS NM_015665.5(AAAS): c.938T> C (p.Val313Ala) single nucleotide variant Pathogenic rs773601814 GRCh38 Chromosome 12, 53309018: 53309018
19 AAAS NM_015665.5(AAAS): c.938T> C (p.Val313Ala) single nucleotide variant Pathogenic rs773601814 GRCh37 Chromosome 12, 53702802: 53702802
20 AAAS NM_015665.5(AAAS): c.1331+1G> A single nucleotide variant Pathogenic rs150511103 GRCh37 Chromosome 12, 53701835: 53701835
21 AAAS NM_015665.5(AAAS): c.1331+1G> A single nucleotide variant Pathogenic rs150511103 GRCh38 Chromosome 12, 53308051: 53308051
22 AAAS NM_015665.5(AAAS): c.1597G> A (p.Gly533Arg) single nucleotide variant Likely benign rs34451260 GRCh37 Chromosome 12, 53701317: 53701317
23 AAAS NM_015665.5(AAAS): c.1597G> A (p.Gly533Arg) single nucleotide variant Likely benign rs34451260 GRCh38 Chromosome 12, 53307533: 53307533
24 AAAS NM_015665.5(AAAS): c.1557T> C (p.Thr519=) single nucleotide variant Likely benign rs112987708 GRCh37 Chromosome 12, 53701357: 53701357
25 AAAS NM_015665.5(AAAS): c.1557T> C (p.Thr519=) single nucleotide variant Likely benign rs112987708 GRCh38 Chromosome 12, 53307573: 53307573
26 AAAS NM_015665.5(AAAS): c.1450C> G (p.Leu484Val) single nucleotide variant Uncertain significance rs764298213 GRCh37 Chromosome 12, 53701464: 53701464
27 AAAS NM_015665.5(AAAS): c.1450C> G (p.Leu484Val) single nucleotide variant Uncertain significance rs764298213 GRCh38 Chromosome 12, 53307680: 53307680
28 AAAS NM_015665.5(AAAS): c.912T> G (p.Ala304=) single nucleotide variant Uncertain significance rs138749872 GRCh38 Chromosome 12, 53309180: 53309180
29 AAAS NM_015665.5(AAAS): c.912T> G (p.Ala304=) single nucleotide variant Uncertain significance rs138749872 GRCh37 Chromosome 12, 53702964: 53702964
30 AAAS NM_015665.5(AAAS): c.414T> C (p.Asp138=) single nucleotide variant Likely benign rs11540353 GRCh38 Chromosome 12, 53315126: 53315126
31 AAAS NM_015665.5(AAAS): c.414T> C (p.Asp138=) single nucleotide variant Likely benign rs11540353 GRCh37 Chromosome 12, 53708910: 53708910
32 AAAS NM_015665.5(AAAS): c.259G> T (p.Val87Leu) single nucleotide variant Uncertain significance rs766985003 GRCh38 Chromosome 12, 53315775: 53315775
33 AAAS NM_015665.5(AAAS): c.259G> T (p.Val87Leu) single nucleotide variant Uncertain significance rs766985003 GRCh37 Chromosome 12, 53709559: 53709559
34 AAAS NM_015665.5(AAAS): c.258T> A (p.Asp86Glu) single nucleotide variant Uncertain significance rs749899811 GRCh38 Chromosome 12, 53315776: 53315776
35 AAAS NM_015665.5(AAAS): c.258T> A (p.Asp86Glu) single nucleotide variant Uncertain significance rs749899811 GRCh37 Chromosome 12, 53709560: 53709560
36 AAAS NM_015665.5(AAAS): c.11T> C (p.Leu4Pro) single nucleotide variant Uncertain significance rs886049652 GRCh38 Chromosome 12, 53321455: 53321455
37 AAAS NM_015665.5(AAAS): c.11T> C (p.Leu4Pro) single nucleotide variant Uncertain significance rs886049652 GRCh37 Chromosome 12, 53715239: 53715239
38 AAAS NM_015665.5(AAAS): c.1498C> T (p.Arg500Trp) single nucleotide variant Uncertain significance rs886049649 GRCh37 Chromosome 12, 53701416: 53701416
39 AAAS NM_015665.5(AAAS): c.1498C> T (p.Arg500Trp) single nucleotide variant Uncertain significance rs886049649 GRCh38 Chromosome 12, 53307632: 53307632
40 AAAS NM_015665.5(AAAS): c.1416+8C> T single nucleotide variant Uncertain significance rs370325323 GRCh37 Chromosome 12, 53701621: 53701621
41 AAAS NM_015665.5(AAAS): c.1416+8C> T single nucleotide variant Uncertain significance rs370325323 GRCh38 Chromosome 12, 53307837: 53307837
42 AAAS NM_015665.5(AAAS): c.1301G> A (p.Arg434Gln) single nucleotide variant Uncertain significance rs112579822 GRCh37 Chromosome 12, 53701866: 53701866
43 AAAS NM_015665.5(AAAS): c.1301G> A (p.Arg434Gln) single nucleotide variant Uncertain significance rs112579822 GRCh38 Chromosome 12, 53308082: 53308082
44 AAAS NM_015665.5(AAAS): c.996+12C> T single nucleotide variant Uncertain significance rs200312077 GRCh37 Chromosome 12, 53702732: 53702732
45 AAAS NM_015665.5(AAAS): c.996+12C> T single nucleotide variant Uncertain significance rs200312077 GRCh38 Chromosome 12, 53308948: 53308948
46 AAAS NM_015665.5(AAAS): c.939C> T (p.Val313=) single nucleotide variant Uncertain significance rs79881935 GRCh37 Chromosome 12, 53702801: 53702801
47 AAAS NM_015665.5(AAAS): c.939C> T (p.Val313=) single nucleotide variant Uncertain significance rs79881935 GRCh38 Chromosome 12, 53309017: 53309017
48 AAAS NM_015665.5(AAAS): c.663C> G (p.Thr221=) single nucleotide variant Uncertain significance rs886049650 GRCh38 Chromosome 12, 53314324: 53314324
49 AAAS NM_015665.5(AAAS): c.663C> G (p.Thr221=) single nucleotide variant Uncertain significance rs886049650 GRCh37 Chromosome 12, 53708108: 53708108
50 AAAS NM_015665.5(AAAS): c.234G> A (p.Lys78=) single nucleotide variant Likely benign rs145519240 GRCh38 Chromosome 12, 53320582: 53320582

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

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