AAAS
MCID: ACH037
MIFTS: 45

Achalasia-Addisonianism-Alacrimia Syndrome (AAAS) malady

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

Aliases & Classifications for Achalasia-Addisonianism-Alacrimia Syndrome

Aliases & Descriptions for Achalasia-Addisonianism-Alacrimia Syndrome:

Name: Achalasia-Addisonianism-Alacrimia Syndrome 54 12 13
Allgrove Syndrome 12 50 24 25 66 52
Triple-a Syndrome 12 24 66 14
Alacrima-Achalasia-Adrenal Insufficiency Neurologic Disorder 50 25 66
Achalasia-Addisonianism-Alacrima Syndrome 24 25 66
Triple a Syndrome 50 24 25
Aaa 50 24 25
Glucocorticoid Deficiency and Achalasia 66 29
Aaa Syndrome 50 25
Acth-Resistant Adrenal Insufficiency with Achalasia and Alacrima 66
Achalasia Addisonianism Alacrimia Syndrome 50
Glucocorticoid Deficiency with Achalasia 69
Alacrima-Achalasia-Addisonianism 66
Adrenal Cortical Hypofunction 69
Addisonian Achalasia Syndrome 50
Achalasia-Addisonian Syndrome 25
Addisonian-Achalasia Syndrome 66
Hypoadrenalism with Achalasia 66
Achalasia Alacrima Syndrome 50
Achalasia-Alacrima Syndrome 25
Adrenal Gland Hypofunction 69
Adrenal Insufficiency 42
Allgrove's Syndrome 66
Aaas 66

Characteristics:

HPO:

32
achalasia-addisonianism-alacrimia syndrome:
Inheritance autosomal recessive inheritance
Onset and clinical course progressive childhood onset


Classifications:



External Ids:

OMIM 54 231550
Disease Ontology 12 DOID:0050602
MeSH 42 D000309

Summaries for Achalasia-Addisonianism-Alacrimia Syndrome

NIH Rare Diseases : 50 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 adrenal insufficiency, congenital, with 46xy sex reversal, partial or complete and secondary adrenal insufficiency, and has symptoms including ataxia, seizures and muscle weakness. An important gene associated with Achalasia-Addisonianism-Alacrimia Syndrome is AAAS (Aladin WD Repeat Nucleoporin), and among its related pathways/superpathways is Diseases of metabolism. The drugs Epinephrine and Hydrocortisone have been mentioned in the context of this disorder. Affiliated tissues include adrenal gland, skin and heart.

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.

UniProtKB/Swiss-Prot : 66 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: 231550

Related Diseases for Achalasia-Addisonianism-Alacrimia Syndrome

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

(show top 50) (show all 61)
id Related Disease Score Top Affiliating Genes
1 adrenal insufficiency, congenital, with 46xy sex reversal, partial or complete 12.3
2 secondary adrenal insufficiency 12.3
3 acute adrenal insufficiency 12.3
4 obesity, adrenal insufficiency, and red hair due to pomc deficiency 12.3
5 congenital adrenal insufficiency 12.2
6 inherited isolated adrenal insufficiency due to partial cyp11a1 deficiency 11.9
7 natural killer cell and glucocorticoid deficiency with dna repair defect 11.5
8 immunodeficiency, common variable, 10 11.5
9 abdominal aortic aneurysm 11.4
10 familial abdominal aortic aneurysm 11.4
11 addison's disease 11.4
12 adrenoleukodystrophy 11.4
13 adrenomyeloneuropathy 11.3
14 aortic aneurysm 11.2
15 congenital adrenal hyperplasia 11.1
16 adrenocorticotropic hormone deficiency 11.1
17 alacrima, achalasia, and mental retardation syndrome 11.0
18 image syndrome 10.9
19 gmppa-cdg 10.8
20 breast cancer 10.3
21 aneurysm 10.2
22 ataxia, spastic, 5, autosomal recessive 10.1 MC2R POMC
23 ameloblastoma 10.1 MC2R POMC
24 childhood optic tract astrocytoma 10.1 MC2R POMC
25 adrenal cortical adenocarcinoma 10.1 NNT POMC
26 second-degree atrioventricular block 10.1 MC2R POMC
27 anisometropia 10.1 MC2R POMC
28 achalasia 10.0
29 x-linked sideroblastic anemia with ataxia 10.0 AAAS NNT POMC
30 microphthalmia, syndromic 9 10.0 AAAS NNT POMC
31 spasticity 10.0
32 familial multiple trichodiscomas 10.0 MC2R NNT POMC
33 benign peritoneal mesothelioma 10.0 MC2R NNT POMC
34 paraplegia 9.9
35 hypermobility syndrome 9.9 MC2R POMC
36 cervical carcinosarcoma 9.9 APTX POMC
37 hereditary spastic paraplegia 9.9
38 diabetic macular edema 9.8 AAAS GMPPA MC2R
39 hepatosplenic t-cell lymphoma 9.8
40 cervical cancer, somatic 9.8
41 horseshoe kidney 9.8
42 dystonia 9.8
43 thyroiditis 9.7
44 neuropathy 9.7
45 adenocarcinoma 9.7
46 prostate cancer 9.6
47 neutropenia 9.5
48 hypogonadotropism 9.5
49 neuronitis 9.5
50 sialadenitis 9.5

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



Diseases related to Achalasia-Addisonianism-Alacrimia Syndrome

Symptoms & Phenotypes for Achalasia-Addisonianism-Alacrimia Syndrome

Symptoms by clinical synopsis from OMIM:

231550

Clinical features from OMIM:

231550

Human phenotypes related to Achalasia-Addisonianism-Alacrimia Syndrome:

32 (show all 33)
id Description HPO Frequency HPO Source Accession
1 ataxia 32 HP:0001251
2 seizures 32 HP:0001250
3 muscle weakness 32 HP:0001324
4 intellectual disability 32 HP:0001249
5 muscular hypotonia 32 HP:0001252
6 dysarthria 32 HP:0001260
7 hyperreflexia 32 HP:0001347
8 respiratory insufficiency 32 HP:0002093
9 developmental regression 32 HP:0002376
10 dysautonomia 32 HP:0002459
11 global developmental delay 32 HP:0001263
12 microcephaly 32 HP:0000252
13 sensorineural hearing impairment 32 HP:0000407
14 visual impairment 32 HP:0000505
15 optic atrophy 32 HP:0000648
16 short stature 32 HP:0004322
17 abnormality of visual evoked potentials 32 HP:0000649
18 palmoplantar keratoderma 32 HP:0000982
19 babinski sign 32 HP:0003487
20 anterior hypopituitarism 32 HP:0000830
21 achalasia 32 HP:0002571
22 iris coloboma 32 HP:0000612
23 generalized hyperpigmentation 32 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 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-Alacrimia Syndrome:


ataxia, muscle weakness

Drugs & Therapeutics for Achalasia-Addisonianism-Alacrimia Syndrome

Drugs for Achalasia-Addisonianism-Alacrimia Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 289)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Epinephrine Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1 51-43-4 5816
2
Hydrocortisone Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1 50-23-7 5754 657311
3
Cortisone acetate Approved Phase 4 1950-04-4, 50-04-4 5745
4
Cosyntropin Approved Phase 4 16960-16-0 16129617
5
Dexamethasone Approved, Investigational, Vet_approved Phase 4,Phase 1 50-02-2 5743
6
Lidocaine Approved, Vet_approved Phase 4,Phase 2,Phase 3 137-58-6 3676
7
Fludrocortisone Approved Phase 4,Phase 3,Phase 2,Phase 1 127-31-1 31378
8
Menthol Approved Phase 4 2216-51-5 16666
9
Prednisone Approved, Vet_approved Phase 4,Phase 3,Phase 2 53-03-2 5865
10
Methylprednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2 83-43-2 6741
11
Prednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2 50-24-8 5755
12
Triamcinolone Approved, Vet_approved Phase 4 124-94-7 31307
13
Etomidate Approved Phase 4,Phase 3,Phase 2 33125-97-2 36339 667484
14
Propofol Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 3 2078-54-8 4943
15
Celecoxib Approved, Investigational Phase 4,Phase 2 169590-42-5 2662
16
Xylometazoline Approved Phase 4 526-36-3 5709
17
Benzocaine Approved Phase 4,Phase 3,Phase 2 1994-09-7, 94-09-7 2337
18
Ketamine Approved, Vet_approved Phase 4,Phase 2,Phase 3 6740-88-1 3821
19
Sulfamethazine Approved, Vet_approved Phase 4 57-68-1 5327
20
Sodium Tetradecyl Sulfate Approved Phase 4 1191-50-0, 139-88-8 14492 5248
21 tannic acid Approved, Nutraceutical Phase 4,Phase 3,Phase 2
22
Butyric Acid Experimental Phase 4,Phase 2,Phase 3,Phase 1 107-92-6 264
23 Anti-Inflammatory Agents Phase 4,Phase 2,Phase 3,Phase 1
24 Cortisol succinate Phase 4,Phase 2,Phase 3,Phase 1
25 Epinephryl borate Phase 4,Phase 2,Phase 3,Phase 1
26 glucocorticoids Phase 4,Phase 3,Phase 2,Phase 1
27 Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1
28 Hormones Phase 4,Phase 3,Phase 2,Phase 1
29 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1
30 Hydrocortisone 17-butyrate 21-propionate Phase 4,Phase 2,Phase 3,Phase 1
31 Hydrocortisone acetate Phase 4,Phase 2,Phase 3,Phase 1
32 Hydrocortisone-17-butyrate Phase 4,Phase 2,Phase 3,Phase 1
33 Racepinephrine Phase 4,Phase 2,Phase 3,Phase 1
34
Cortisone Phase 4 53-06-5 222786
35 Adrenergic Agents Phase 4,Phase 3,Phase 2,Phase 1
36 Adrenergic Agonists Phase 4,Phase 3,Phase 2,Phase 1
37 Adrenergic alpha-Agonists Phase 4,Phase 3,Phase 2,Phase 1
38 Adrenergic beta-Agonists Phase 4,Phase 3,Phase 2,Phase 1
39 Anti-Asthmatic Agents Phase 4,Phase 3,Phase 2,Phase 1
40 Autonomic Agents Phase 4,Phase 3,Phase 2,Phase 1
41 BB 1101 Phase 4,Phase 1
42 Bronchodilator Agents Phase 4,Phase 3,Phase 2,Phase 1
43 Dexamethasone 21-phosphate Phase 4,Phase 1
44 Dexamethasone acetate Phase 4,Phase 1 1177-87-3
45 Mydriatics Phase 4,Phase 3,Phase 2,Phase 1
46 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Phase 1
47 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Phase 1
48 Respiratory System Agents Phase 4,Phase 3,Phase 2,Phase 1
49 Vasoconstrictor Agents Phase 4,Phase 3,Phase 2,Phase 1
50 Anesthetics Phase 4,Phase 3,Phase 2

Interventional clinical trials:

(show top 50) (show all 180)
id Name Status NCT ID Phase
1 Effect of Treatment With Stress-Doses Glucocorticoid in Patients With Acute Respiratory Distress Syndrome (ARDS) Unknown status NCT00773058 Phase 4
2 Dual RElease Hydrocortisone Versus conventionAl Glucocorticoid replaceMent Therapy in Hypocortisolism (DREAM) Unknown status NCT02277587 Phase 4
3 Determination of Method-specific Normal Cortisol and Adrenal Hormone Responses to the Short Synacthen Test Unknown status NCT00851942 Phase 4
4 Test Predicting Adrenal Insufficiency in Volunteers Under Prednisone Treatment Completed NCT00975078 Phase 4
5 Hydrocortisone Replacement in Patients With Secondary Adrenal Insufficiency (SUPREME CORT) Completed NCT01546922 Phase 4
6 Revival of Stem Cells in Addison's Study Completed NCT01371526 Phase 4
7 Evaluation of Efficacy and Hypothalamus-pituitary-adrenal Axis Suppression Due to Corticosteroids Intrabursal Injection Completed NCT01652495 Phase 4
8 Post Operative Hemodynamic Function After Anesthetic Induction With Etomidate for Cardiac Surgery With ECC Completed NCT00451776 Phase 4
9 The Effect of Moderate-Dose Steroid Therapy in Sepsis Completed NCT01275638 Phase 4
10 Low-dose Hydrocortisone in Acutely Burned Patients Completed NCT00149123 Phase 4
11 Short-term Prednisone to Treat STA Study(SPTSS) Completed NCT01837433 Phase 4
12 Effect of Etomidate on Hemodynamics and Adrenocortical Function After Cardiac Surgery Completed NCT00415701 Phase 4
13 Steroid Use in Pediatric Fluid and Vasoactive Infusion Dependent Shock - Pilot Study Completed NCT02044159 Phase 4
14 A Post Marketing Surveillance Study for NutropinAq® in Adults With Growth Hormone Deficiency Completed NCT00455884 Phase 4
15 Taper Or Abrupt Steroid Stop: TOASSTtrial Recruiting NCT03153527 Phase 4
16 Corticosteroid Reduction in COPD Recruiting NCT02857842 Phase 4
17 Etomidate Versus Ketamine for Emergency Endotracheal Intubation: a Prospective Randomized Clinical Trial Recruiting NCT02643381 Phase 4
18 Laser Ablation Versus Mechanochemical Ablation Trial Recruiting NCT02627846 Phase 4
19 Omega-3 Fatty Acids in Bariatric Gastric Bypass Surgery: Effect on Liver Volume, Immune Response and Erythrocyte Function Active, not recruiting NCT02206256 Phase 4
20 Modified-release Compared to Conventional Hydrocortisone on Diurnal Fatigue in Secondary Hypoadrenalism Enrolling by invitation NCT02282150 Phase 4
21 Comparison of Two Strategies of Glucocorticoid Withdrawal in Rheumatoid Arthritis Patients Not yet recruiting NCT02997605 Phase 4
22 Adrenal Insufficiency in Septic Shock Terminated NCT00842933 Phase 4
23 Neuropsychological Effects of Hydrocortisone in Patients With Partial Adrenal Insufficiency Terminated NCT01089075 Phase 4
24 Hemodynamic and Inflammatory Effects of Abrupt Versus Tapered Corticosteroid Discontinuation in Septic Shock Terminated NCT01150409 Phase 4
25 Hydrocortisone Versus Hydrocortisone Plus Fludrocortisone for the Treatment of Adrenal Insufficiency in Severe Sepsis Withdrawn NCT00368381 Phase 4
26 The Effect of Dexamethasone on Cortisol Levels in Patients Undergoing Thyroid Surgery Withdrawn NCT01045876 Phase 4
27 Septic Shock em Steroids Unknown status NCT01047670 Phase 2, Phase 3
28 Demonstrate the Therapeutic Clinical Equivalence of Two Mometasone Nasal Sprays Unknown status NCT01702103 Phase 3
29 Dehydroepiandrosterone Substitution in Adolescent and Young Women With Central Adrenal Insufficiency Completed NCT00575341 Phase 3
30 Once-daily Oral Modified Release Hydrocortisone in Patients With Adrenal Insufficiency Completed NCT00915343 Phase 2, Phase 3
31 Treatment of Adrenal Insufficiency in Children Completed NCT02720952 Phase 3
32 Phase III Randomized, Double-Blind, Placebo-Controlled Study of Dehydroepiandrosterone Replacement for Primary Adrenal Insufficiency Completed NCT00004313 Phase 3
33 Treatment of Polytraumatisms With Corticoids Completed NCT00563303 Phase 2, Phase 3
34 Corticosteroid Therapy for Glucocorticoid Insufficiency Related to Traumatic Brain Injury Completed NCT01093261 Phase 3
35 PREMILOC Trial to Prevent Bronchopulmonary Dysplasia in Very Preterm Neonates Completed NCT00623740 Phase 3
36 Early Use of Hydrocortisone in Hypotensive Very Low Birth Weight Infants Completed NCT00358748 Phase 3
37 Mepolizumab Steroid-Sparing Study in Subjects With Severe Refractory Asthma Completed NCT01691508 Phase 3
38 Combination of Corticotherapy and Intensive Insulin Therapy for Septic Shock Completed NCT00320099 Phase 3
39 Corticosteroid Therapy of Septic Shock - Corticus Completed NCT00147004 Phase 3
40 Glucocorticoid Treatment in Addison's Disease Completed NCT01063569 Phase 2, Phase 3
41 Stem Cell Transplant for Inborn Errors of Metabolism Completed NCT00176904 Phase 2, Phase 3
42 Compassionate Treatment of Patients With Inborn Errors of Bile Acid Metabolism With Cholic Acid Completed NCT00007020 Phase 3
43 Hydrocortisone Use After Etomidate in Intensive Care Completed NCT00862381 Phase 3
44 Extension Study for Patients Entered Into Study Infacort 003 Recruiting NCT02733367 Phase 3
45 Hydrocortisone Treatment In Systemic Low Blood Pressure During Hypothermia in Asphyxiated Newborns Recruiting NCT02700828 Phase 2, Phase 3
46 A Phase 2/3 Study of the Efficacy and Safety of Hematopoietic Stem Cells Transduced With Lenti-D Lentiviral Vector for the Treatment of Cerebral Adrenoleukodystrophy (CALD) Recruiting NCT01896102 Phase 2, Phase 3
47 MD1003-AMN MD1003 in Adrenomyeloneuropathy Active, not recruiting NCT02961803 Phase 2, Phase 3
48 Ketamine / Propofol Admixture "Ketofol" at Induction in the Critically Ill Against Etomidate: KEEP PACE Trial Enrolling by invitation NCT02105415 Phase 2, Phase 3
49 Dynamic Hormone Diagnostics in Endocrine Disease Not yet recruiting NCT02934399 Phase 2, Phase 3
50 Effect of Glycerol Trierucate on Clinical Course of Adrenoleukodystrophy Suspended NCT00004418 Phase 2, Phase 3

Search NIH Clinical Center for Achalasia-Addisonianism-Alacrimia Syndrome

Inferred drug relations via UMLS 69 / NDF-RT 48 :


Cochrane evidence based reviews: adrenal insufficiency

Genetic Tests for Achalasia-Addisonianism-Alacrimia Syndrome

Genetic tests related to Achalasia-Addisonianism-Alacrimia Syndrome:

id Genetic test Affiliating Genes
1 Glucocorticoid Deficiency with Achalasia 29
2 Achalasia-Addisonianism-Alacrima Syndrome 24 AAAS

Anatomical Context for Achalasia-Addisonianism-Alacrimia Syndrome

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

39
Adrenal Gland, Skin, Heart, Kidney

Publications for Achalasia-Addisonianism-Alacrimia Syndrome

Variations for Achalasia-Addisonianism-Alacrimia Syndrome

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

66
id 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-Alacrimia Syndrome:

6 (show all 11)
id Gene Variation Type Significance SNP ID Assembly Location
1 AAAS NM_015665.5(AAAS): c.934C> T (p.Arg312Ter) single nucleotide variant Pathogenic rs121918547 GRCh37 Chromosome 12, 53702942: 53702942
2 AAAS NM_015665.5(AAAS): c.1432C> T (p.Arg478Ter) single nucleotide variant Pathogenic rs121918548 GRCh37 Chromosome 12, 53701482: 53701482
3 AAAS NM_015665.5(AAAS): c.980dupT (p.Ser328Ilefs) duplication Pathogenic rs387906326 GRCh37 Chromosome 12, 53702760: 53702760
4 AAAS AAAS, IVS4AS, A-G, -2 single nucleotide variant Pathogenic
5 AAAS AAAS, IVS14DS, G-A, +1 single nucleotide variant Pathogenic
6 AAAS NM_015665.5(AAAS): c.43C> A (p.Gln15Lys) single nucleotide variant Pathogenic rs121918549 GRCh37 Chromosome 12, 53715207: 53715207
7 AAAS NM_015665.5(AAAS): c.787T> C (p.Ser263Pro) single nucleotide variant Pathogenic rs121918550 GRCh37 Chromosome 12, 53703408: 53703408
8 AAAS AAAS, IVS11DS, G-A, +1 single nucleotide variant Pathogenic
9 AAAS NM_015665.5(AAAS): c.1288C> T (p.Leu430Phe) single nucleotide variant Pathogenic rs121918551 GRCh37 Chromosome 12, 53701879: 53701879
10 AAAS AAAS, 251G-A single nucleotide variant Pathogenic
11 AAAS NM_015665.5(AAAS): c.938T> C (p.Val313Ala) single nucleotide variant Pathogenic rs773601814 GRCh38 Chromosome 12, 53309018: 53309018

Expression for Achalasia-Addisonianism-Alacrimia Syndrome

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

Pathways for Achalasia-Addisonianism-Alacrimia Syndrome

GO Terms for Achalasia-Addisonianism-Alacrimia Syndrome

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

id 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-Alacrimia Syndrome

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16 ExPASy
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