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AAMR
MCID: ALC028
MIFTS: 65

Alacrima, Achalasia, and Mental Retardation Syndrome (AAMR)

Categories: Genetic diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Alacrima, Achalasia, and Mental Retardation Syndrome

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MalaCards integrated aliases for Alacrima, Achalasia, and Mental Retardation Syndrome:

Name: Alacrima, Achalasia, and Mental Retardation Syndrome 56 73 29 6 39 71
Intellectual Disability 43 39 71
Aamr 56 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth or in infancy


HPO:

31
alacrima, achalasia, and mental retardation syndrome:
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases
See all MalaCards categories (disease lists)


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Summaries for Alacrima, Achalasia, and Mental Retardation Syndrome

About this section
OMIM : 56 Alacrima, achalasia, and mental retardation syndrome (AAMR) is an autosomal recessive disorder characterized by onset of these 3 main features at birth or in early infancy. More variable features include hypotonia, gait abnormalities, anisocoria, and visual or hearing deficits. The disorder shows similarity to the triple A syndrome (231550), but patients with AAMR do not have adrenal insufficiency (summary by Koehler et al., 2013). See also 300858 for a phenotypically similar disorder that shows X-linked inheritance. (615510)

MalaCards based summary : Alacrima, Achalasia, and Mental Retardation Syndrome, also known as intellectual disability, is related to non-syndromic x-linked intellectual disability and syndromic intellectual disability, and has symptoms including lethargy and neurobehavioral manifestations. An important gene associated with Alacrima, Achalasia, and Mental Retardation Syndrome is GMPPA (GDP-Mannose Pyrophosphorylase A), and among its related pathways/superpathways are Myometrial Relaxation and Contraction Pathways and Mesodermal Commitment Pathway. The drugs Methylprednisolone hemisuccinate and Methylprednisolone have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and heart, and related phenotypes are nystagmus and gait disturbance

UniProtKB/Swiss-Prot : 73 Alacrima, achalasia, and mental retardation syndrome: An autosomal recessive disorder characterized by onset of alacrima, achalasia, and mental retardation at birth or in early infancy. More variable features include hypotonia, gait abnormalities, anisocoria, and visual or hearing deficits. The disorder shows similarity to the triple A syndrome, but patients with AAMR do not have adrenal insufficiency.

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Related Diseases for Alacrima, Achalasia, and Mental Retardation Syndrome

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Diseases related to Alacrima, Achalasia, and Mental Retardation Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 2286)
# Related Disease Score Top Affiliating Genes
1 non-syndromic x-linked intellectual disability 34.8 BRWD3 ATRX ARX AFF2
2 syndromic intellectual disability 34.8 BRPF1 ATRX ARX
3 autosomal dominant non-syndromic intellectual disability 34.7 CHD3 CAMK2B CAMK2A ATRX ANKRD11 AHDC1
4 alpha thalassemia-x-linked intellectual disability syndrome 34.3 BRWD3 ATRX
5 partington x-linked mental retardation syndrome 33.7 ARX AFF2
6 microcephaly 33.0 CTNNB1 BPTF ATRX ATP2B3 ARX AFF2
7 autism 32.5 CAMK2A CACNA1A BPTF ARX ANKRD11 AFF2
8 visual epilepsy 31.9 DHX16 CUL4B C12orf57 BPTF
9 attention deficit-hyperactivity disorder 31.9 CAMK2A CACNA1A C12orf57 C12orf4 ATP2B3
10 corpus callosum, agenesis of 30.8 DHX16 ARX
11 spastic paraplegia, intellectual disability, nystagmus, and obesity 12.6
12 hivep2-related intellectual disability 12.6
13 syndromic x-linked intellectual disability snyder type 12.5
14 autosomal recessive non-syndromic intellectual disability 12.5
15 syngap1-related intellectual disability 12.5
16 non-syndromic intellectual disability 12.5
17 autosomal dominant non-syndromic intellectual disability 5 12.5
18 x-linked intellectual disability, turner type 12.5
19 autosomal dominant non-syndromic intellectual disability 3 12.5
20 autosomal dominant non-syndromic intellectual disability 4 12.5
21 autosomal dominant non-syndromic intellectual disability 9 12.5
22 muscular dystrophy, congenital, with cataracts and intellectual disability 12.5
23 syndromic x-linked intellectual disability 14 12.4
24 autosomal dominant intellectual disability 49 12.4
25 x-linked intellectual disability, siderius type 12.4
26 intellectual disability - athetosis - microphthalmia 12.4
27 corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome 12.4
28 white matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome 12.4
29 cask-related intellectual disability 12.4
30 autosomal dominant intellectual disability 30 12.4
31 syndromic x-linked intellectual disability 7 12.4
32 syndromic x-linked intellectual disability turner type 12.4
33 hypoparathyroidism-intellectual disability-dysmorphism syndrome 12.4
34 retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome 12.4
35 severe intellectual disability-progressive spastic diplegia syndrome 12.4
36 syngap1-related non-syndromic intellectual disability 12.4
37 polyneuropathy-intellectual disability-acromicria-premature menopause syndrome 12.4
38 syndromic x-linked intellectual disability 12.4
39 syndromic x-linked intellectual disability 12 12.4
40 syndromic x-linked intellectual disability type 10 12.4
41 alopecia-intellectual disability syndrome 12.4
42 aniridia - ptosis - intellectual disability - familial obesity 12.4
43 aortic arch anomaly - peculiar facies - intellectual disability 12.4
44 arachnodactyly - intellectual disability - dysmorphism 12.4
45 intellectual disability - hypoplastic corpus callosum - preauricular tag 12.4
46 syndromic x-linked intellectual disability siderius type 12.4
47 syndromic x-linked intellectual disability nascimento type 12.4
48 brachydactyly-mesomelia-intellectual disability-heart defects syndrome 12.4
49 spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome 12.4
50 autosomal recessive intellectual disability 58 12.4

Graphical network of the top 20 diseases related to Alacrima, Achalasia, and Mental Retardation Syndrome:



Diseases related to Alacrima, Achalasia, and Mental Retardation Syndrome
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Symptoms & Phenotypes for Alacrima, Achalasia, and Mental Retardation Syndrome

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Human phenotypes related to Alacrima, Achalasia, and Mental Retardation Syndrome:

31 (show all 17)
# Description HPO Frequency HPO Source Accession
1 nystagmus 31 occasional (7.5%) HP:0000639
2 gait disturbance 31 occasional (7.5%) HP:0001288
3 hearing impairment 31 occasional (7.5%) HP:0000365
4 generalized hypotonia 31 occasional (7.5%) HP:0001290
5 hyperkeratosis 31 occasional (7.5%) HP:0000962
6 strabismus 31 occasional (7.5%) HP:0000486
7 hypohidrosis 31 occasional (7.5%) HP:0000966
8 nasal speech 31 occasional (7.5%) HP:0001611
9 orthostatic hypotension 31 occasional (7.5%) HP:0001278
10 sensory impairment 31 occasional (7.5%) HP:0003474
11 anisocoria 31 occasional (7.5%) HP:0009916
12 intellectual disability 31 HP:0001249
13 dysphagia 31 HP:0002015
14 global developmental delay 31 HP:0001263
15 feeding difficulties 31 HP:0011968
16 achalasia 31 HP:0002571
17 alacrima 31 HP:0000522

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
intellectual disability
autonomic dysfunction
delayed psychomotor development
gait abnormalities (in some patients)

Head And Neck Eyes:
alacrima
nystagmus (in some patients)
strabismus (in some patients)
visual problems (in some patients)
anisocoria (in some patients)

Muscle Soft Tissue:
hypotonia (in some patients)

Cardiovascular Vascular:
postural hypotension (in some patients)

Voice:
nasal voice (in some patients)

Laboratory Abnormalities:
normal serum transferrin profiles

Abdomen Gastrointestinal:
dysphagia
feeding difficulties
achalasia

Head And Neck Ears:
hearing impairment (in some patients)

Skin Nails Hair Skin:
hypohidrosis (in some patients)
hyperkeratosis (in some patients)

Neurologic Peripheral Nervous System:
sensory impairment (in some patients)

Endocrine Features:
no adrenal insufficiency

Clinical features from OMIM:

615510

UMLS symptoms related to Alacrima, Achalasia, and Mental Retardation Syndrome:


lethargy, neurobehavioral manifestations

MGI Mouse Phenotypes related to Alacrima, Achalasia, and Mental Retardation Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.03 ANKRD11 ARX ATRX BBS10 BRPF1 CACNA1A
2 growth/size/body region MP:0005378 9.77 ANKRD11 ARX ATRX BBS10 BPTF BRPF1
3 embryo MP:0005380 9.76 ANKRD11 ATRX BPTF BRPF1 BRWD3 CTNNB1
4 mortality/aging MP:0010768 9.44 ANKRD11 ARX ATRX BBS10 BPTF BRPF1
Sources

Drugs & Therapeutics for Alacrima, Achalasia, and Mental Retardation Syndrome

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Drugs for Alacrima, Achalasia, and Mental Retardation Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 194)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
2
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
3 Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
4
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
5
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
6
Zonisamide Approved, Investigational Phase 4 68291-97-4 5734
7
Acetazolamide Approved, Vet_approved Phase 4 59-66-5 1986
8
Rufinamide Approved Phase 4 106308-44-5 129228
9
Oxcarbazepine Approved Phase 4 28721-07-5 34312
10
Tiagabine Approved, Investigational Phase 4 115103-54-3 60648
11
Clobazam Approved, Illicit Phase 4 22316-47-8 2789
12
Phenobarbital Approved, Investigational Phase 4 50-06-6 4763
13
Levetiracetam Approved Phase 4 102767-28-2 441341
14
Lamotrigine Approved, Investigational Phase 4 84057-84-1 3878
15
Clonazepam Approved, Illicit Phase 4 1622-61-3 2802
16
Gabapentin Approved, Investigational Phase 4 60142-96-3 3446
17
Vigabatrin Approved Phase 4 60643-86-9, 68506-86-5 5665
18
Pregabalin Approved, Investigational Phase 4 148553-50-8 5486971
19
Phenytoin Approved, Vet_approved Phase 4 57-41-0 1775
20
Nitrazepam Approved Phase 4 146-22-5 4506
21
Felbamate Approved Phase 4 25451-15-4 3331
22
Carbamazepine Approved, Investigational Phase 4 298-46-4 2554
23
Ethosuximide Approved Phase 4 77-67-8 3291
24
Valproic acid Approved, Investigational Phase 4 99-66-1 3121
25
Riluzole Approved, Investigational Phase 4 1744-22-5 5070
26
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
27
Norepinephrine Approved Phase 4 51-41-2 439260
28
Milnacipran Approved, Investigational Phase 4 92623-85-3 65833
29
Levomilnacipran Approved, Investigational Phase 4 96847-54-0
30
Lovastatin Approved, Investigational Phase 4 75330-75-5 53232
31
Memantine Approved, Investigational Phase 4 19982-08-2 4054
32
Phenylalanine Approved, Investigational, Nutraceutical Phase 4 63-91-2 6140
33
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
34 Methylprednisolone Acetate Phase 4
35 Neurotransmitter Agents Phase 4
36 Omega 3 Fatty Acid Phase 4
37 Psychotropic Drugs Phase 4
38 Central Nervous System Depressants Phase 4
39 GABA Agents Phase 4
40 Antimanic Agents Phase 4
41 Tranquilizing Agents Phase 4
42 Excitatory Amino Acid Antagonists Phase 4
43 Excitatory Amino Acids Phase 4
44 Antiparkinson Agents Phase 4
45 Dopamine Agents Phase 4
46 Analgesics Phase 4
47 Analgesics, Non-Narcotic Phase 4
48 Serotonin and Noradrenaline Reuptake Inhibitors Phase 4
49 Hypolipidemic Agents Phase 4
50 Anticholesteremic Agents Phase 4

Interventional clinical trials:

(show top 50) (show all 238)
# Name Status NCT ID Phase Drugs
1 Comparing Ketogenic Diet With the Most Appropriate Antiepileptic Drug- a Randomized Study of Children With Mental Retardation and Drug Resistant Epilepsy Unknown status NCT00552526 Phase 4 Antiepileptic drug (AED)
2 Riluzole in Fragile X Syndrome: A Pilot Study Incorporating Biomarker Assay Completed NCT00895752 Phase 4 Riluzole
3 Milnacipran in Autism and the Functional Locus Coeruleus and Noradrenergic Model of Autism Completed NCT01337700 Phase 4 Milnacipran;Placebo
4 Omega 3/6 Fatty Acids for Reading in Children: A Randomised, Double-blind, Placebo-controlled Trial in 9-year-old Mainstream Schoolchildren in Sweden Completed NCT02557477 Phase 4
5 Combining Lovastatin and a Parent-Implemented Language Intervention in a Multimodal Treatment for Fragile X Syndrome Completed NCT02642653 Phase 4 Lovastatin
6 Use of Sustained Release Antiepileptic Medication (Depakote® ER) for Pediatric Epilepsy in a Mental Retardation/Developmental Disorder Population Completed NCT00207935 Phase 4
7 A Sixteen-Week, Randomized, Double Blind, Placebo-Controlled Evaluation of the Efficacy, Tolerability and Safety of Memantine Hydrochloride on Enhancing the Cognitive Abilities of Young Adults With Down Syndrome Completed NCT01112683 Phase 4 Memantine;Placebo
8 PICO: Phenylalanine and Its Impact on Cognition - Impact of Phenylalanine on Cognitive, Cerebral and Neurometabolic Parameters in Adult Patients With Phenylketonuria Recruiting NCT03788343 Phase 4 Placebo
9 Clinical and Cost Effectiveness of Staff Training in Positive Behaviour Support (PBS) for Treating Challenging Behaviour in People With Intellectual Disability: A Cluster Randomised Controlled Trial Unknown status NCT01680276 Phase 3
10 Efficacy of RAD001/Everolimus in Autism and NeuroPsychological Deficits in Children With Tuberous Sclerosis Complex Unknown status NCT01730209 Phase 2, Phase 3 Everolimus;Placebo
11 Stereotypies and Mental Retardation: Neurobiological Basis Unknown status NCT00491478 Phase 3 sertraline
12 Behavioral and Biochemical Mechanisms of Self-Injury Unknown status NCT00065936 Phase 3 Naltrexone hydrochloride
13 Multicenter Vitamin E Trial in Aging Persons With Down Syndrome Unknown status NCT00056329 Phase 3 Vitamin E;multivitamin;Placebo
14 Randomized Controlled Trial to Evaluate the Effectiveness of Vibration and External Cold (Buzzy Device) for Pain Relief During Venipuncture or Intravenous Cannulation in Children With Intellectual Disability. Completed NCT02434731 Phase 3
15 Prospective, Randomized, Double-blind, Placebo-controlled, Parallel-group, Multicenter Study With an Open-label Extension Period to Investigate the Efficacy and Safety of NT 201 in the Treatment of Children and Adolescents (2-17 Years) With Chronic Troublesome Sialorrhea Associated With Neurological Disorders, and/or Intellectual Disability Completed NCT02270736 Phase 3 IncobotulinumtoxinA;Placebo
16 A Six-Month, Multi-Center, Open-Label Study to Assess the Safety and Efficacy of Oral Glycopyrrolate Liquid for the Treatment of Pathologic (Chronic Moderate to Severe) Drooling in Pediatric Patients 3 to 18 Years of Age With Cerebral Palsy or Other Neurologic Conditions Completed NCT00491894 Phase 3 Oral Glycopyrrolate Liquid
17 Severe Aberrant Behavior Among Persons With Mental Retardation. Project III: Behavioral Selectivity of Atypical Neuroleptic Drugs: Effects on Cognitive and Social Behaviors Completed NCT00065273 Phase 3 risperidone;clozapine;olanzapine
18 Evolution of Albumin on AOA1 Patients Supplemented With Coenzyme Q10 Completed NCT02333305 Phase 3
19 Effectiveness of PTSD Treatment For Suicidal and Multi-Diagnostic Clients Completed NCT02615197 Phase 2, Phase 3
20 A Multicentre Randomised Controlled Trial to Assess the Safety and Efficacy of Adding Rituximab to Standard of Care in Treating Acute Antibody-mediated Rejection in Kidney Transplantation Recruiting NCT03994783 Phase 3 Rituximab;Methylprednisolone;Intravenous Immunoglobulin
21 A Double-Blind, Placebo-Controlled Trial of Metformin in Individuals With Fragile X Syndrome Recruiting NCT03479476 Phase 2, Phase 3 Placebo Medication;Metformin
22 Randomized, Placebo Controlled Double-blind Study of the Efficacy of Topiramate on the Symptoms of Irritability - Impulsivity, Overeating and Self-harm in a Population of Patients Suffering From Prader Willi Syndrome Over 8 Weeks Terminated NCT02810483 Phase 3 Topiramate;Placebo Comparator
23 A Prospective Open Label Randomised Multicentre Study Evaluating the Efficacy & Safety of Rituximab Given Pre-Transplant to Sensitised Renal Allograft Recipients in Addition to a "Standard" Desensitisation Regimen Consisting of PE/IVIG & MMF Unknown status NCT00371904 Phase 2 Rituximab;Standard Care
24 An Open Labeled Clinical Study to Evaluate the Safety and Efficacy of Autologous Bone Marrow Derived Mono Nuclear Stem Cell (BMMNCs) in Patients With Mental Retardation. It is Self Funded (Patients' Own Funding) Clinical Trial Unknown status NCT01908400 Phase 1, Phase 2
25 Study Safety and Efficacy of of AUTOLOGOUS Bone Marrow Derived Mono Nuclear Stem Cell (BMMNCs) for the Patient With Duchenne Muscular Dystrophy. It is Self Funded (Patients' Own Funding) Clinical Trial Unknown status NCT01834040 Phase 1, Phase 2
26 Pharmacokinetics of Enteral Omeprazole Suspension in Patients With Cerebral Palsy and Mental Retardation Completed NCT00426595 Phase 2 Administration of omeprazole suspension;omeprazole administered as a multi-unit-pellet system
27 Augmentation of the Cholinergic System in Fragile X Syndrome: A Double-Blind Placebo-Controlled Randomized Study of Donepezil Completed NCT01120626 Phase 2 donepezil;sugar pill
28 Estrogen Receptors Beta (ER-B) as Therapeutic Targets for the Improvement of Cognitive Performance in Fragile-X (TESXF) Completed NCT01855971 Phase 2
29 Belatacept (Nulojix) in Renal Transplant Recipient With Mild Immunologic Risk Factor: a Pilot Prospective Study Completed NCT02738918 Phase 2 Nulojix (Belatacept)
30 Effects of Social Gaze Training on Brain and Behavior in Fragile X Syndrome Recruiting NCT02616796 Phase 1, Phase 2
31 Specifying and Treating the Anxiety Phenotype in Autism Spectrum Disorder Recruiting NCT03279471 Phase 2 Sertraline;Placebo
32 Microbiota Transfer Therapy for Children With Both Pitt Hopkins Syndrome and Gastrointestinal Disorders Recruiting NCT04132427 Phase 2
33 Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS) Recruiting NCT01773278 Phase 2 Antioxidants;Cholesterol
34 A Randomized Double-Blind Controlled Trial of Everolimus in Individuals With PTEN Mutations (RAD001XUS257T) Recruiting NCT02991807 Phase 1, Phase 2 RAD001;Placebo
35 A Double-Blind, Placebo-Controlled Trial of Metformin in Individuals With Fragile X Syndrome (FXS) Recruiting NCT03862950 Phase 2 Placebo Medication;Metformin
36 Phase II Multicenter 16-Week Randomized Double Blind Placebo-Controlled Evaluation of the Efficacy, Tolerability and Safety of Memantine Hydrochloride on Enhancing the Cognitive Abilities of Adolescents and Young Adults With Down Syndrome Recruiting NCT02304302 Phase 2 Memantine;Placebo
37 Phase II Study of Stereotypes and Mental Retardation: Neurobiological Basis Suspended NCT00004300 Phase 2 bromocriptine;sertraline hydrochloride
38 Manipulating the Gut Microbiome Study Terminated NCT03181828 Phase 1, Phase 2 Acetohydroxamic Acid Oral Tablet [Lithostat]
39 PREDICTORS (Parents Resources for Decreasing the Incidence of Change Triggered Temper Outbursts) Unknown status NCT02567357 Phase 1
40 A Phase One Treatment Trial of the Circadian Sleep Disturbance in Smith-Magenis Syndrome (SMS) Completed NCT00506259 Phase 1 dTR Melatonin (NIH CC PDS);Melatonin CR
41 Pharmacokinetics of Orally Administered Dasotraline in Subjects With Mild, Moderate, and Severe Hepatic Dysfunction Completed NCT02795637 Phase 1 dasotraline
42 Stem Cell Therapy in Mental Retardation Withdrawn NCT02245724 Phase 1
43 Evaluation of Tools for the Simultaneous Detection of Point and Structural Mutations in Patients With Intellectual Disability Unknown status NCT02881333
44 Demographic Characteristics of Children Suffering From Mental Retardation or Cerebral Palsy in the Israeli Arab Community Unknown status NCT02214745
45 Augmentative and Alternative Communication in Games With Virtual Reality in Intellectual Disabilities Unknown status NCT03033797
46 The Associative Memory in Autism Spectrum Disorders Without Intellectual Disability Unknown status NCT02279680
47 Pain and Emotional Expression in Children With Autism or Mental Retardation Unknown status NCT01043822
48 The Additive Effect of Cognitive Behavioral Treatment - CBT to Conventional Weight Loss Intervention Program for Young Adults With Intellectual Disabilities Unknown status NCT01032369
49 Adapting and Evaluating Dialectical Behaviour Group Therapy for Adults With Dual Diagnosis (Intellectual Disabilities With Psychiatric Disorder) Unknown status NCT02919826
50 Finding Genes With NGS Techniques in Whom Mutations Cause Neurological Diseases Unknown status NCT02340871

Search NIH Clinical Center for Alacrima, Achalasia, and Mental Retardation Syndrome

Inferred drug relations via UMLS 71 / NDF-RT 50 :


Buspirone
buspirone hydrochloride

Cochrane evidence based reviews: intellectual disability

Sources

Genetic Tests for Alacrima, Achalasia, and Mental Retardation Syndrome

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Genetic tests related to Alacrima, Achalasia, and Mental Retardation Syndrome:

# Genetic test Affiliating Genes
1 Alacrima, Achalasia, and Mental Retardation Syndrome 29 GMPPA
Sources

Anatomical Context for Alacrima, Achalasia, and Mental Retardation Syndrome

About this section

MalaCards organs/tissues related to Alacrima, Achalasia, and Mental Retardation Syndrome:

40
Brain, Testes, Heart, Bone, Eye, Skin, Kidney
Sources

Publications for Alacrima, Achalasia, and Mental Retardation Syndrome

About this section

Articles related to Alacrima, Achalasia, and Mental Retardation Syndrome:

(show top 50) (show all 12954)
# Title Authors PMID Year
1
Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction. 61 56 6
24035193 2013
2
Evidence report: Genetic and metabolic testing on children with global developmental delay: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society. 61 6
21956720 2011
3
A Homozygous 1.16 Megabases Microdeletion at 8p22 Including The Whole TUSC3 in A Three Years Old Girl with Intellectual Disability and Speech Delay. 61
31606977 2020
4
Lexical decision performance using the divided visual field technique following training in adults with intellectual disabilities with and without Down syndrome. 61
31294645 2020
5
Long-term cognitive outcomes in tuberous sclerosis complex. 61
31538337 2020
6
Specialist hospital treatment and care as reported by children with intellectual disabilities and a cleft lip and/or palate, their parents and healthcare professionals. 61
31578815 2020
7
Cognitive functioning in children with cerebral palsy. 61
32010976 2020
8
A Review on Functional Analyses of Tics. 61
30373380 2020
9
Severe neurological impairment: a review of the definition. 61
31237356 2020
10
Psychologists' perspectives on supported decision making in Ireland. 61
31975473 2020
11
PAK3 mutations responsible for severe intellectual disability and callosal agenesis inhibit cell migration. 61
31843706 2020
12
Anticholinergic medications for reducing drooling in children with developmental disability. 61
31495925 2020
13
Obesity in youth and adults with intellectual disability in Europe and Eurasia. 61
31482623 2020
14
Lipopolysaccharide-induced inflammation leads to acute elevations in pro-inflammatory cytokine expression in a mouse model of Fragile X syndrome. 61
31838149 2020
15
Auricular transcutaneous vagus nerve stimulation improves memory persistence in naïve mice and in an intellectual disability mouse model. 61
31919001 2020
16
Newborn screening and diagnosis of inborn errors of metabolism: A 5-year study in an eastern Chinese population. 61
31893530 2020
17
Cognitive abilities and life experience in everyday planning in adolescents with intellectual disabilities: Support for the difference model. 61
31898385 2020
18
Clinicoradiologic Profile and Outcome of Children With Tubercular Meningitis in a Tertiary Care Hospital in Bangladesh. 61
31726924 2020
19
Sexual abuse and violence against people with intellectual disability and physical impairments: Characteristics of police-investigated cases in a Norwegian national sample. 61
31430025 2020
20
Prevalence of co-occurring psychiatric disorders in adults and adolescents with intellectual disability: A systematic review and meta-analysis. 61
31430018 2020
21
Tuberous sclerosis-associated epilepsy and intellectual disability: what role does the mammalian target of rapamycin pathway play? 61
31591705 2020
22
A mediation model of parental stress, parenting, and risk factors in families having children with mild intellectual disability. 61
31981778 2020
23
An empirical examination of the use of Easy Read health information in health consultations involving patients with intellectual disabilities. 61
31475419 2020
24
Autonomy in participation in cerebral palsy from childhood to adulthood. 61
31578717 2020
25
Pregnenolone and pregnenolone-methyl-ether rescue neuronal defects caused by dysfunctional CLIP170 in a neuronal model of CDKL5 Deficiency Disorder. 61
31794725 2020
26
Diagnosis of Attention Deficit Hyperactivity Disorder in Intellectual Disability: Diagnostic and Statistical Manual of Mental Disorder V versus clinical impression. 61
31808234 2020
27
Association between vertigo, cognitive and psychiatric conditions in US children: 2012 National Health Interview Survey. 61
31809971 2020
28
Infantile-Onset Syndromic Cerebellar Ataxia and CACNA1G Mutations. 61
31836334 2020
29
Substance use disorders in people with intellectual disability. 61
31743126 2020
30
An intellectual disability-associated missense variant in TRMT1 impairs tRNA modification and reconstitution of enzymatic activity. 61
31898845 2020
31
Using a dual-task paradigm to investigate motor and cognitive performance in children with intellectual disability. 61
31441573 2020
32
Best Practice Principles When Working With Individuals With Intellectual Disability and Comorbid Mental Health Concerns. 61
31328633 2020
33
Altered neurotransmission and neuroimaging biomarkers of chronic arsenic poisoning in wild muskrats (Ondatra zibethicus) and red squirrels (Tamiasciurus hudsonicus) breeding near the City of Yellowknife, Northwest Territories (Canada). 61
31780150 2020
34
Neurodevelopmental and Psychiatric Symptoms in Patients with a Cyst Compressing the Cerebellum: an Ongoing Enigma. 61
31321675 2020
35
Genetic Variation across Phenotypic Severity of Autism. 61
32037010 2020
36
Nuclear receptor corepressors in intellectual disability and autism. 61
32034290 2020
37
Links between self-injury and suicidality in autism. 61
32039740 2020
38
Communication difficulties in adults with Intellectual Disability: Results from a national cross-sectional study. 61
31874425 2020
39
Social Connections Among Siblings With and Without Intellectual Disability or Autism. 61
32011223 2020
40
Exploratory factor analysis of the Adapted Skillstreaming Checklist for children with autism spectrum disorder. 61
31431041 2020
41
Association of Genetic Risks With Autism Spectrum Disorder and Early Neurodevelopmental Delays Among Children Without Intellectual Disability. 61
32031653 2020
42
Actions Speak Louder Than Words: The Role of Action in Self-Referential Advantage in Children With Autism. 61
32011827 2020
43
Usp9X Controls Ankyrin-Repeat Domain Protein Homeostasis during Dendritic Spine Development. 61
31813652 2020
44
PIGA related disorder as a range of phenotypes rather than two distinct subtypes. 61
31704190 2020
45
Physiological regulation and social-emotional processing in female carriers of the FMR1 premutation. 61
31765665 2020
46
Education versus screening: the use of capacity to consent tools in psychiatric genomics. 61
31563871 2020
47
Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency. 61
31928709 2020
48
[Characteristics of people with the STXBP1 syndrome in Spain: Implications for diagnosis]. 61
31151759 2020
49
Neurodevelopmental disorder associated with de novo SCN3A pathogenic variants: two new cases and review of the literature. 61
31677917 2020
50
Previously undescribed phenotypic findings and novel ACTG1 gene pathogenic variants in Baraitser-Winter cerebrofrontofacial syndrome. 61
32028042 2020
Sources

Variations for Alacrima, Achalasia, and Mental Retardation Syndrome

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ClinVar genetic disease variations for Alacrima, Achalasia, and Mental Retardation Syndrome:

6 (show top 50) (show all 446) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PURA NM_005859.5(PURA):c.812_814del (p.Phe271del)deletion Pathogenic 156403 rs587782991 5:139494576-139494578 5:140114991-140114993
2 PURA NM_005859.5(PURA):c.303_304TC[2] (p.Ser103fs)short repeat Pathogenic 156404 rs587782992 5:139494068-139494069 5:140114483-140114484
3 PURA NM_005859.5(PURA):c.556C>T (p.Gln186Ter)SNV Pathogenic 156405 rs587782993 5:139494322-139494322 5:140114737-140114737
4 PURA NM_005859.5(PURA):c.289A>G (p.Lys97Glu)SNV Pathogenic 156406 rs587782994 5:139494055-139494055 5:140114470-140114470
5 PURA NM_005859.5(PURA):c.363C>G (p.Tyr121Ter)SNV Pathogenic 156408 rs587782996 5:139494129-139494129 5:140114544-140114544
6 PURA NM_005859.5(PURA):c.783C>G (p.Tyr261Ter)SNV Pathogenic 156409 rs587782997 5:139494549-139494549 5:140114964-140114964
7 PURA NM_005859.5(PURA):c.470T>A (p.Met157Lys)SNV Pathogenic 156410 rs587782998 5:139494236-139494236 5:140114651-140114651
8 PURA NM_005859.5(PURA):c.265G>C (p.Ala89Pro)SNV Pathogenic 156411 rs587782999 5:139494031-139494031 5:140114446-140114446
9 PURA NM_005859.5(PURA):c.263_265del (p.Ile88_Ala89delinsThr)deletion Pathogenic 156412 rs587783000 5:139494029-139494031 5:140114444-140114446
10 subset of 12 genes: DYRK1A NC_000021.8:g.(?_38007970)_(39747620_?)deldeletion Pathogenic 162157 21:38007970-39747620
11 DYRK1A NM_001347721.2(DYRK1A):c.586C>T (p.Arg196Ter)SNV Pathogenic 162153 rs724159949 21:38858865-38858865 21:37486563-37486563
12 DYRK1A NM_001347721.2(DYRK1A):c.594_597delinsGAA (p.Glu199fs)indel Pathogenic 162154 rs724159950 21:38858873-38858876 21:37486571-37486574
13 DYRK1A NM_001347721.2(DYRK1A):c.736C>T (p.Arg246Ter)SNV Pathogenic 162152 rs724159948 21:38862575-38862575 21:37490273-37490273
14 DYRK1A NM_001347721.2(DYRK1A):c.817dup (p.Ser273fs)duplication Pathogenic 162159 rs724159954 21:38862655-38862656 21:37490353-37490354
15 DYRK1A NM_001347721.2(DYRK1A):c.918dup (p.Gln307fs)duplication Pathogenic 162156 rs724159952 21:38862753-38862754 21:37490451-37490452
16 LOC101927919 , NUS1 , SLC35F1 NC_000006.11:g.(117961791_117961792)_(118280043_118280044)deldeletion Pathogenic 180225 6:117961791-118280044 6:117640628-117958881
17 LOC101927919 , NUS1 NC_000006.11:g.(117971549_117971550)_(118218719_118218720)deldeletion Pathogenic 180226 6:117971549-118218720 6:117650386-117897557
18 covers 24 genes, none of which curated to show dosage sensitivity NC_000006.11:g.(116681080_116735056)_(119687719_119775014)deldeletion Pathogenic 180227 6:116681080-119775014
19 TBC1D24 NM_001199107.2(TBC1D24):c.1079G>T (p.Arg360Leu)SNV Pathogenic 183157 rs765965968 16:2548334-2548334 16:2498333-2498333
20 DYRK1A NM_001347721.2(DYRK1A):c.1205dup (p.Arg404fs)duplication Pathogenic 162161 rs724159956 21:38868551-38868552 21:37496249-37496250
21 DYRK1A NM_001347721.2(DYRK1A):c.1282C>T (p.Arg428Ter)SNV Pathogenic 162158 rs724159953 21:38877655-38877655 21:37505352-37505352
22 SLC2A1 NM_006516.3(SLC2A1):c.724C>T (p.Gln242Ter)SNV Pathogenic 202196 rs794729221 1:43395407-43395407 1:42929736-42929736
23 GNB1 NM_002074.5(GNB1):c.239T>C (p.Ile80Thr)SNV Pathogenic 208722 rs752746786 1:1737942-1737942 1:1806503-1806503
24 EBF3 NM_001005463.3(EBF3):c.1101+1G>TSNV Pathogenic 212723 rs797046136 10:131646655-131646655 10:129848391-129848391
25 MED13L NM_015335.4(MED13L):c.6118_6125del (p.Gly2040fs)deletion Pathogenic 221556 rs869025287 12:116406845-116406852 12:115969040-115969047
26 BBS10 NM_024685.4(BBS10):c.145C>T (p.Arg49Trp)SNV Pathogenic 225010 rs768933093 12:76741994-76741994 12:76348214-76348214
27 CUL4B NM_003588.3(CUL4B):c.1162C>T (p.Arg388Ter)SNV Pathogenic 11339 rs121434616 X:119678034-119678034 X:120544179-120544179
28 MED12 NM_005120.3(MED12):c.2881C>T (p.Arg961Trp)SNV Pathogenic 11520 rs80338758 X:70347217-70347217 X:71127367-71127367
29 SLC16A2 NM_006517.5(SLC16A2):c.1190T>C (p.Leu397Pro)SNV Pathogenic 11636 rs122455132 X:73749067-73749067 X:74529232-74529232
30 MECP2 NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys)SNV Pathogenic 11824 rs28935468 X:153296363-153296363 X:154030912-154030912
31 MECP2 NM_001110792.2(MECP2):c.538C>T (p.Arg180Ter)SNV Pathogenic 11828 rs61748421 X:153296777-153296777 X:154031326-154031326
32 HCFC1 NM_005334.3(HCFC1):c.218C>T (p.Ala73Val)SNV Pathogenic 66985 rs397515486 X:153230153-153230153 X:153964702-153964702
33 GMPPA NM_013335.4(GMPPA):c.295C>T (p.Arg99Ter)SNV Pathogenic 88691 rs397518460 2:220366625-220366625 2:219501903-219501903
34 GMPPA NM_013335.4(GMPPA):c.1000A>C (p.Thr334Pro)SNV Pathogenic 88692 rs397518461 2:220370982-220370982 2:219506260-219506260
35 GMPPA NM_013335.4(GMPPA):c.545G>A (p.Gly182Asp)SNV Pathogenic 88693 rs397518462 2:220368860-220368860 2:219504138-219504138
36 GMPPA NM_013335.4(GMPPA):c.210del (p.Ala71fs)deletion Pathogenic 88694 rs886037654 2:220366268-220366268 2:219501546-219501546
37 GMPPA GMPPA, TRP214TERSNV Pathogenic 88695
38 TCF4 NM_001083962.2(TCF4):c.510_513AAAG[1] (p.Lys172fs)short repeat Pathogenic 93545 rs398123561 18:53017622-53017625 18:55350391-55350394
39 VPS13B NM_015243.2(VPS13B):c.1219C>T (p.Gln407Ter)SNV Pathogenic 56645 rs386834070 8:100146872-100146872 8:99134644-99134644
40 EEF1A2 NM_001958.4(EEF1A2):c.208G>A (p.Gly70Ser)SNV Pathogenic 100782 rs587777162 20:62127325-62127325 20:63495972-63495972
41 AHDC1 NM_001029882.3(AHDC1):c.2371_2372TG[1] (p.Cys791fs)short repeat Pathogenic 133326 rs587779766 1:27876253-27876254 1:27549742-27549743
42 AHDC1 NM_001029882.3(AHDC1):c.2898del (p.Tyr967fs)deletion Pathogenic 133327 rs587779767 1:27875729-27875729 1:27549218-27549218
43 AHDC1 NM_001029882.3(AHDC1):c.2547del (p.Ser850fs)deletion Pathogenic 133328 rs587779768 1:27876080-27876080 1:27549569-27549569
44 MECP2 NM_001110792.2(MECP2):c.1171_1178del (p.Pro391fs)deletion Pathogenic 143342 rs267608571 X:153296137-153296144 X:154030686-154030693
45 MECP2 NM_001110792.2(MECP2):c.1198_1199delinsTA (p.Pro400Ter)indel Pathogenic 143395 rs267608597 X:153296116-153296117 X:154030665-154030666
46 GRIN1 NM_007327.4(GRIN1):c.1670C>G (p.Pro557Arg)SNV Pathogenic 235846 rs878853143 9:140056661-140056661 9:137162209-137162209
47 RAI1 NM_030665.4(RAI1):c.2332_2336del (p.Gly778fs)deletion Pathogenic 235845 rs878853142 17:17698592-17698596 17:17795278-17795282
48 PHF8 NM_015107.3(PHF8):c.1141+5G>CSNV Pathogenic 235852 rs878853148 X:54028583-54028583 X:54002150-54002150
49 TCF4 NM_001083962.2(TCF4):c.520C>T (p.Arg174Ter)SNV Pathogenic 235853 rs878853149 18:53017619-53017619 18:55350388-55350388
50 SHANK3 NM_033517.1(SHANK3):c.2909_2924dup (p.Pro976fs)duplication Pathogenic 235854 rs1555910048 22:51159167-51159168 22:50720739-50720740

UniProtKB/Swiss-Prot genetic disease variations for Alacrima, Achalasia, and Mental Retardation Syndrome:

73
# Symbol AA change Variation ID SNP ID
1 GMPPA p.Gly182Asp VAR_070203 rs397518462
2 GMPPA p.Thr334Met VAR_070204 rs774778439
3 GMPPA p.Thr334Pro VAR_070205 rs397518461
4 GMPPA p.Arg390Pro VAR_070206 rs146727404
5 GMPPA p.Asn401Thr VAR_070207

Copy number variations for Alacrima, Achalasia, and Mental Retardation Syndrome from CNVD:

7 (show top 50) (show all 230)
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 14809 1 110328830 110367887 Amplification AHCYL1 Intellectual disability
2 18404 1 145479805 145564639 Amplification BCL9 Intellectual disability
3 20790 1 154318992 154376502 Deletion LMNA Intellectual disability
4 25568 1 191357783 191487679 Deletion CDC73 Intellectual disability
5 26008 1 195504030 195714208 Amplification CRB1 Intellectual disability
6 26062 1 196392816 196555392 Deletion NEK7 Intellectual disability
7 27599 1 21005560 21375927 Deletion EIF4G3 Intellectual disability
8 29199 1 228844880 228896351 Amplification COG2 Intellectual disability
9 29770 1 235537560 237086860 Deletion Intellectual disability
10 33809 1 48460990 48486903 Deletion SLC5A9 Intellectual disability
11 34281 1 54291861 54350780 Deletion C1orf83 Intellectual disability
12 35404 1 63278601 174979260 Duplication Intellectual disability
13 35871 1 68336738 68470841 Amplification GPR177 Intellectual disability
14 36503 1 76466419 77200494 Duplication Intellectual disability
15 37402 1 90483825 90786224 Duplication Intellectual disability
16 38249 10 100208866 100985609 Amplification HPSE2 Intellectual disability
17 39670 10 118177413 118227458 Amplification PNLIPRP3 Intellectual disability
18 40487 10 128662416 129042087 Deletion Intellectual disability
19 41143 10 13725711 14412872 Deletion FRMD4A Intellectual disability
20 42897 10 42100000 46100000 Deletion ZNF487 Intellectual disability
21 43203 10 45480000 51585000 Deletion Intellectual disability
22 43209 10 45512000 51585000 Deletion Intellectual disability
23 43225 10 45612000 51585000 Deletion Intellectual disability
24 43250 10 45927753 51581847 Deletion Intellectual disability
25 43254 10 45947671 51263703 Deletion Intellectual disability
26 43263 10 45979000 56907000 Deletion Intellectual disability
27 43292 10 46100000 53300000 Deletion Intellectual disability
28 43382 10 46384979 51265056 Deletion Intellectual disability
29 43389 10 46384979 52085077 Deletion Intellectual disability
30 43411 10 46400346 51237832 Deletion Intellectual disability
31 43734 10 48871525 50765047 Deletion Intellectual disability
32 43745 10 48941000 52218000 Deletion Intellectual disability
33 43760 10 49062854 52062367 Deletion Intellectual disability
34 43770 10 49121974 50641724 Deletion Intellectual disability
35 43868 10 50239677 50581445 Duplication Intellectual disability
36 43876 10 50334496 50417153 Deletion ERCC6 Intellectual disability
37 49425 11 106880543 106941637 Amplification ALKBH8 Intellectual disability
38 49436 11 106967286 107042715 Amplification ELMOD1 Intellectual disability
39 51015 11 121813520 134447248 Deletion Intellectual disability
40 51445 11 12633728 121813520 Deletion Intellectual disability
41 51830 11 131586860 131711926 Amplification HNT Intellectual disability
42 52967 11 22232079 25091772 Deletion Intellectual disability
43 55056 11 48800000 51400000 Duplication Intellectual disability
44 58769 11 6934067 9220605 Duplication ZNF214 Intellectual disability
45 59763 11 77603989 77806414 Amplification GAB2 Intellectual disability
46 61307 11 98397080 99732683 Amplification CNTN5 Intellectual disability
47 66448 12 29384845 29425410 Amplification ERGIC2 Intellectual disability
48 66460 12 29545023 29828959 Amplification TMTC1 Intellectual disability
49 66846 12 33200000 35400000 Duplication Intellectual disability
50 71529 12 7138290 7153069 Deletion C1RL Intellectual disability
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Expression for Alacrima, Achalasia, and Mental Retardation Syndrome

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Search GEO for disease gene expression data for Alacrima, Achalasia, and Mental Retardation Syndrome.
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Pathways for Alacrima, Achalasia, and Mental Retardation Syndrome

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Pathways related to Alacrima, Achalasia, and Mental Retardation Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Myometrial Relaxation and Contraction Pathways 1
Show member pathways
 12.05 CAMK2B CAMK2A CACNA1A ATP2B3
2
Mesodermal Commitment Pathway 1
Show member pathways
 11.94 CUL4B CTNNB1 BPTF AHDC1
3
Calcium signaling pathway 36
Show member pathways
 11.55 CAMK2B CAMK2A CACNA1A ATP2B3
4
Non-Canonical Wnt Pathway 66
10.58 CTNNB1 CAMK2B CAMK2A
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GO Terms for Alacrima, Achalasia, and Mental Retardation Syndrome

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Cellular components related to Alacrima, Achalasia, and Mental Retardation Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 calcium- and calmodulin-dependent protein kinase complex GO:0005954 8.62 CAMK2B CAMK2A

Biological processes related to Alacrima, Achalasia, and Mental Retardation Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chromatin organization GO:0006325 9.62 CHD3 BRPF1 BPTF ATRX
2 tissue homeostasis GO:0001894 9.26 CTNNB1 ANKRD11
3 regulation of neuron migration GO:2001222 9.16 CAMK2B CAMK2A
4 regulation of presynaptic cytosolic calcium ion concentration GO:0099509 8.96 CACNA1A ATP2B3
5 forebrain development GO:0030900 8.8 CTNNB1 ATRX ARX

Molecular functions related to Alacrima, Achalasia, and Mental Retardation Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ATP binding GO:0005524 9.17 DHX16 CHD3 CAMK2B CAMK2A BBS10 ATRX
2 calmodulin-dependent protein kinase activity GO:0004683 8.96 CAMK2B CAMK2A
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Sources for Alacrima, Achalasia, and Mental Retardation Syndrome

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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