AAMR
MCID: ALC028
MIFTS: 65

Alacrima, Achalasia, and Mental Retardation Syndrome (AAMR)

Categories: Genetic diseases

Aliases & Classifications for Alacrima, Achalasia, and Mental Retardation Syndrome

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:



Summaries for Alacrima, Achalasia, and Mental Retardation Syndrome

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 and Methylprednisolone hemisuccinate have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and bone, 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.

Related Diseases for Alacrima, Achalasia, and Mental Retardation Syndrome

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

(show top 50) (show all 2282)
# Related Disease Score Top Affiliating Genes
1 non-syndromic x-linked intellectual disability 34.8 BRWD3 ATRX ARX AFF2
2 syndromic intellectual disability 34.6 BRPF1 ATRX ARX
3 autosomal dominant non-syndromic intellectual disability 34.6 CAMK2B CAMK2A 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 33.2 DHX30 CTNNB1 BPTF ATRX ATP2B3
7 autism 32.4 CAMK2A CACNA1A BPTF ARX ANKRD11 AFF2
8 visual epilepsy 31.9 DHX30 CUL4B C12orf57 BPTF
9 attention deficit-hyperactivity disorder 31.7 CAMK2A CACNA1A C12orf57 C12orf4 ATP2B3
10 spastic paraplegia, intellectual disability, nystagmus, and obesity 12.6
11 hivep2-related intellectual disability 12.6
12 syndromic x-linked intellectual disability snyder type 12.5
13 autosomal recessive non-syndromic intellectual disability 12.5
14 syngap1-related intellectual disability 12.5
15 non-syndromic intellectual disability 12.5
16 autosomal dominant non-syndromic intellectual disability 5 12.5
17 x-linked intellectual disability, turner type 12.5
18 autosomal dominant non-syndromic intellectual disability 3 12.5
19 autosomal dominant non-syndromic intellectual disability 4 12.5
20 autosomal dominant non-syndromic intellectual disability 9 12.5
21 muscular dystrophy, congenital, with cataracts and intellectual disability 12.5
22 syndromic x-linked intellectual disability 14 12.4
23 autosomal dominant intellectual disability 49 12.4
24 x-linked intellectual disability, siderius type 12.4
25 intellectual disability - athetosis - microphthalmia 12.4
26 corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome 12.4
27 white matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome 12.4
28 cask-related intellectual disability 12.4
29 autosomal dominant intellectual disability 30 12.4
30 syndromic x-linked intellectual disability 7 12.4
31 syndromic x-linked intellectual disability turner type 12.4
32 hypoparathyroidism-intellectual disability-dysmorphism syndrome 12.4
33 retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome 12.4
34 severe intellectual disability-progressive spastic diplegia syndrome 12.4
35 syngap1-related non-syndromic intellectual disability 12.4
36 polyneuropathy-intellectual disability-acromicria-premature menopause syndrome 12.4
37 syndromic x-linked intellectual disability 12.4
38 syndromic x-linked intellectual disability 12 12.4
39 syndromic x-linked intellectual disability type 10 12.4
40 alopecia-intellectual disability syndrome 12.4
41 aniridia - ptosis - intellectual disability - familial obesity 12.4
42 aortic arch anomaly - peculiar facies - intellectual disability 12.4
43 arachnodactyly - intellectual disability - dysmorphism 12.4
44 intellectual disability - hypoplastic corpus callosum - preauricular tag 12.4
45 syndromic x-linked intellectual disability siderius type 12.4
46 syndromic x-linked intellectual disability nascimento type 12.4
47 brachydactyly-mesomelia-intellectual disability-heart defects syndrome 12.4
48 spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome 12.4
49 autosomal recessive intellectual disability 58 12.4
50 intellectual disability-spasticity-ectrodactyly syndrome 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

Symptoms & Phenotypes for Alacrima, Achalasia, and Mental Retardation Syndrome

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 10.06 ANKRD11 ARX ATRX BBS10 BRPF1 CACNA1A
2 growth/size/body region MP:0005378 9.97 ANKRD11 ARX ATRX BBS10 BPTF BRPF1
3 embryo MP:0005380 9.86 ANKRD11 ATRX BPTF BRPF1 BRWD3 CTNNB1
4 homeostasis/metabolism MP:0005376 9.73 ANKRD11 ARX BBS10 BPTF BRPF1 C12orf4
5 mortality/aging MP:0010768 9.44 ANKRD11 ARX ATRX BBS10 BPTF BRPF1

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

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 Approved, Vet_approved Phase 4 83-43-2 6741
2
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
3
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
4 Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
5
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
6
Zonisamide Approved, Investigational Phase 4 68291-97-4 5734
7
Clobazam Approved, Illicit Phase 4 22316-47-8 2789
8
Acetazolamide Approved, Vet_approved Phase 4 59-66-5 1986
9
Rufinamide Approved Phase 4 106308-44-5 129228
10
Ethosuximide Approved Phase 4 77-67-8 3291
11
Felbamate Approved Phase 4 25451-15-4 3331
12
Tiagabine Approved, Investigational Phase 4 115103-54-3 60648
13
Phenytoin Approved, Vet_approved Phase 4 57-41-0 1775
14
Gabapentin Approved, Investigational Phase 4 60142-96-3 3446
15
Vigabatrin Approved Phase 4 60643-86-9, 68506-86-5 5665
16
Clonazepam Approved, Illicit Phase 4 1622-61-3 2802
17
Lamotrigine Approved, Investigational Phase 4 84057-84-1 3878
18
Carbamazepine Approved, Investigational Phase 4 298-46-4 2554
19
Nitrazepam Approved Phase 4 146-22-5 4506
20
Pregabalin Approved, Investigational Phase 4 148553-50-8 5486971
21
Levetiracetam Approved Phase 4 102767-28-2 441341
22
Oxcarbazepine Approved Phase 4 28721-07-5 34312
23
Phenobarbital Approved, Investigational Phase 4 50-06-6 4763
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 Tranquilizing Agents Phase 4
40 GABA Agents Phase 4
41 Antimanic 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, Non-Narcotic Phase 4
47 Analgesics 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 Combining Lovastatin and a Parent-Implemented Language Intervention in a Multimodal Treatment for Fragile X Syndrome Completed NCT02642653 Phase 4 Lovastatin
5 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
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 Evolution of Albumin on AOA1 Patients Supplemented With Coenzyme Q10 Completed NCT02333305 Phase 3
18 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
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 Demographic Characteristics of Children Suffering From Mental Retardation or Cerebral Palsy in the Israeli Arab Community Unknown status NCT02214745
44 Evaluation of Tools for the Simultaneous Detection of Point and Structural Mutations in Patients With Intellectual Disability Unknown status NCT02881333
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

Genetic Tests for Alacrima, Achalasia, and Mental Retardation Syndrome

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

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

Anatomical Context for Alacrima, Achalasia, and Mental Retardation Syndrome

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

40
Brain, Testes, Bone, Heart, Eye, Cortex, Breast

Publications for Alacrima, Achalasia, and Mental Retardation Syndrome

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

(show top 50) (show all 12721)
# Title Authors PMID Year
1
Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction. 6 56 61
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. 6 61
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
Mild epileptic phenotype associates with de novo eef1a2 mutation: Case report and review. 61
31477274 2020
5
Okur-Chung neurodevelopmental syndrome in a patient from Spain. 61
31729156 2020
6
Bain type of X-linked syndromic mental retardation in a male with a pathogenic variant in HNRNPH2. 61
31670473 2020
7
"They just said inappropriate contact." What do service users hear when staff talk about sex and relationships? 61
28585359 2020
8
Self-determination and future goals in a sample of adults with intellectual disability. 61
31692153 2020
9
Potential for children with intellectual disability to engage in cognitive behaviour therapy: the parent perspective. 61
31659831 2020
10
Senior manager decision-making and interactions with frontline staff in intellectual disability organisations: A Delphi study. 61
31482622 2020
11
A homozygous mutation in CMAS causes autosomal recessive intellectual disability in a Kazakh family. 61
31495922 2020
12
"That Felt Like Real Engagement": Fostering and Maintaining Inclusive Research Collaborations With Individuals With Intellectual Disability. 61
31466513 2020
13
Edward Zigler's legacy in the study of persons with intellectual disability: the developmental approach and the advent of a more rigorous and compassionate science. 61
31823425 2020
14
De novo ZBTB7A variant in a patient with macrocephaly, intellectual disability, and sleep apnea: implications for the phenotypic development in 19p13.3 microdeletions. 61
31645653 2020
15
'Them Two Things are What Collide Together': Understanding the Sexual Identity Experiences of Lesbian, Gay, Bisexual and Trans People Labelled with Intellectual Disability. 61
27538684 2020
16
Development curves of communication and social interaction in individuals with cerebral palsy. 61
31541474 2020
17
Barriers faced by adults with intellectual disabilities who experience sexual assault: A systematic review and meta-synthesis. 61
29532978 2020
18
Fragile X mental retardation protein protects against tumour necrosis factor-mediated cell death and liver injury. 61
31409605 2020
19
Concordance of the Vineland Adaptive Behavior Scales, second and third editions. 61
31657503 2020
20
Artificial Intelligence and the detection of pediatric concussion using epigenomic analysis. 61
31628932 2020
21
Developmental Outcomes of Aicardi Goutières Syndrome. 61
31559893 2020
22
Marital quality and inflammation: The moderating role of early life adversity. 61
31512924 2020
23
Feasibility of a school-based exercise intervention for children with intellectual disability to reduce cardio-metabolic risk. 61
31625658 2020
24
Psychotropic medication use in adults with intellectual disability in Queensland, Australia, from 1999 to 2015: a cohort study. 61
31478300 2020
25
Novel Intragenic PAX6 Deletion in a Pedigree with Aniridia, Morbid Obesity, and Diabetes. 61
31361967 2020
26
NRAS associated RASopathy and embryonal rhabdomyosarcoma. 61
31697451 2020
27
Behavioral characterization of dup15q syndrome: Toward meaningful endpoints for clinical trials. 61
31654560 2020
28
Brain white matter abnormalities associated with copy number variants. 61
31622028 2020
29
Toward a characterization of language development in children with congenital heart disease: A pilot study. 61
31120368 2020
30
Phenotypic expansion of POGZ-related intellectual disability syndrome (White-Sutton syndrome). 61
31782611 2020
31
Atypical, milder presentation in a child with CC2D2A and KIDINS220 variants. 61
31577543 2020
32
Biallelic mutation of FBXL7 suggests a novel form of Hennekam syndrome. 61
31633297 2020
33
Phenotype and mutation expansion of the PTPN23 associated disorder characterized by neurodevelopmental delay and structural brain abnormalities. 61
31395947 2020
34
The RNA Exosome and Human Disease. 61
31768969 2020
35
Brain protein changes in Mecp2 mouse mutant models: Effects on disease progression of Mecp2 brain specific gene reactivation. 61
31629059 2020
36
Congenital microcephaly-linked CDK5RAP2 affects eye development. 61
31355417 2020
37
The Pain Assessment in Impaired Cognition scale (PAIC15): A multidisciplinary and international approach to develop and test a meta-tool for pain assessment in impaired cognition, especially dementia. 61
31487411 2020
38
Neurodevelopmental wiring deficits in the Ts65Dn mouse model of Down syndrome. 61
31644920 2020
39
A profile of Australian mental health carers, their caring role and service needs: results from the 2012 Survey of Disability, Ageing and Carers. 61
30165910 2019
40
The deubiquitinase USP6 affects memory and synaptic plasticity through modulating NMDA receptor stability. 61
31841517 2019
41
SETD2 related overgrowth syndrome: Presentation of four new patients and review of the literature. 61
31643139 2019
42
Neurodevelopmental phenotype associated with CHD8-SUPT16H duplication. 61
31823155 2019
43
Regulation of neuronal connectivity in the mammalian brain by chromatin remodeling. 61
31146125 2019
44
Tatton-Brown-Rahman syndrome: cognitive and behavioural phenotypes. 61
31845314 2019
45
Fine mapping of MRT9 locus through genome wide homozygosity mapping in a consanguineous Pakistani family. 61
31853126 2019
46
Clinical experience combined with therapeutic drug monitoring of lacosamide. 61
31853958 2019
47
Homozygous STXBP1 variant causes encephalopathy and gain-of-function in synaptic transmission. 61
31855252 2019
48
Establishment of a human iPSC line (SDQLCHi010-A) from a patient with optic nerve malformation carrying a heterozygous mutation in PAX6 gene. 61
31707209 2019
49
Standardized Infant NeuroDevelopmental Assessment developmental and socio-emotional scales: reliability and predictive value in an at-risk population. 61
31837010 2019
50
A case of intellectual disability reveals a novel mutation in IQSEC2 gene by whole exome sequencing. 61
31490346 2019

Variations for Alacrima, Achalasia, and Mental Retardation Syndrome

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

6 (show top 50) (show all 449) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CUL4B NM_003588.3(CUL4B):c.1162C>T (p.Arg388Ter)SNV Pathogenic 11339 rs121434616 X:119678034-119678034 X:120544179-120544179
2 MED12 NM_005120.3(MED12):c.2881C>T (p.Arg961Trp)SNV Pathogenic 11520 rs80338758 X:70347217-70347217 X:71127367-71127367
3 SLC16A2 NM_006517.5(SLC16A2):c.1190T>C (p.Leu397Pro)SNV Pathogenic 11636 rs122455132 X:73749067-73749067 X:74529232-74529232
4 MECP2 NM_004992.3(MECP2):c.916C>T (p.Arg306Cys)SNV Pathogenic 11824 rs28935468 X:153296363-153296363 X:154030912-154030912
5 MECP2 NM_004992.3(MECP2):c.502C>T (p.Arg168Ter)SNV Pathogenic 11828 rs61748421 X:153296777-153296777 X:154031326-154031326
6 HCFC1 NM_005334.3(HCFC1):c.218C>T (p.Ala73Val)SNV Pathogenic 66985 rs397515486 X:153230153-153230153 X:153964702-153964702
7 GMPPA NM_013335.4(GMPPA):c.295C>T (p.Arg99Ter)SNV Pathogenic 88691 rs397518460 2:220366625-220366625 2:219501903-219501903
8 GMPPA NM_013335.4(GMPPA):c.1000A>C (p.Thr334Pro)SNV Pathogenic 88692 rs397518461 2:220370982-220370982 2:219506260-219506260
9 GMPPA NM_013335.4(GMPPA):c.545G>A (p.Gly182Asp)SNV Pathogenic 88693 rs397518462 2:220368860-220368860 2:219504138-219504138
10 GMPPA NM_013335.4(GMPPA):c.210del (p.Ala71fs)deletion Pathogenic 88694 rs886037654 2:220366269-220366269 2:219501547-219501547
11 GMPPA GMPPA, TRP214TERSNV Pathogenic 88695
12 TCF4 NM_001083962.2(TCF4):c.510_513AAAG[1] (p.Lys172fs)short repeat Pathogenic 93545 rs398123561 18:53017622-53017625 18:55350391-55350394
13 VPS13B NM_015243.2(VPS13B):c.1219C>T (p.Gln407Ter)SNV Pathogenic 56645 rs386834070 8:100146872-100146872 8:99134644-99134644
14 EEF1A2 NM_001958.4(EEF1A2):c.208G>A (p.Gly70Ser)SNV Pathogenic 100782 rs587777162 20:62127325-62127325 20:63495972-63495972
15 AHDC1 NM_001029882.3(AHDC1):c.2371_2372TG[1] (p.Cys791fs)short repeat Pathogenic 133326 rs587779766 1:27876253-27876254 1:27549742-27549743
16 AHDC1 NM_001029882.3(AHDC1):c.2898del (p.Tyr967fs)deletion Pathogenic 133327 rs587779767 1:27875729-27875729 1:27549218-27549218
17 AHDC1 NM_001029882.3(AHDC1):c.2547del (p.Ser850fs)deletion Pathogenic 133328 rs587779768 1:27876080-27876080 1:27549569-27549569
18 MECP2 NM_004992.3(MECP2):c.1135_1142del (p.Pro379fs)deletion Pathogenic 143342 rs267608571 X:153296137-153296144 X:154030686-154030693
19 MECP2 NM_001110792.2(MECP2):c.1198_1199delinsTA (p.Pro400Ter)indel Pathogenic 143395 rs267608597 X:153296116-153296117 X:154030665-154030666
20 PURA NM_005859.5(PURA):c.812_814del (p.Phe271del)deletion Pathogenic 156403 rs587782991 5:139494578-139494580 5:140114993-140114995
21 PURA NM_005859.5(PURA):c.303_304TC[2] (p.Ser103fs)short repeat Pathogenic 156404 rs587782992 5:139494073-139494074 5:140114488-140114489
22 PURA NM_005859.5(PURA):c.556C>T (p.Gln186Ter)SNV Pathogenic 156405 rs587782993 5:139494322-139494322 5:140114737-140114737
23 PURA NM_005859.5(PURA):c.289A>G (p.Lys97Glu)SNV Pathogenic 156406 rs587782994 5:139494055-139494055 5:140114470-140114470
24 PURA NM_005859.5(PURA):c.363C>G (p.Tyr121Ter)SNV Pathogenic 156408 rs587782996 5:139494129-139494129 5:140114544-140114544
25 PURA NM_005859.5(PURA):c.783C>G (p.Tyr261Ter)SNV Pathogenic 156409 rs587782997 5:139494549-139494549 5:140114964-140114964
26 PURA NM_005859.5(PURA):c.470T>A (p.Met157Lys)SNV Pathogenic 156410 rs587782998 5:139494236-139494236 5:140114651-140114651
27 PURA NM_005859.5(PURA):c.265G>C (p.Ala89Pro)SNV Pathogenic 156411 rs587782999 5:139494031-139494031 5:140114446-140114446
28 PURA NM_005859.5(PURA):c.263_265del (p.Ile88_Ala89delinsThr)deletion Pathogenic 156412 rs587783000 5:139494029-139494031 5:140114444-140114446
29 subset of 12 genes: DYRK1A NC_000021.8:g.(?_38007970)_(39747620_?)deldeletion Pathogenic 162157 21:38007970-39747620
30 DYRK1A NM_001347721.2(DYRK1A):c.586C>T (p.Arg196Ter)SNV Pathogenic 162153 rs724159949 21:38858865-38858865 21:37486563-37486563
31 DYRK1A NM_001347721.2(DYRK1A):c.594_597delinsGAA (p.Glu199fs)indel Pathogenic 162154 rs724159950 21:38858873-38858876 21:37486571-37486574
32 DYRK1A NM_001347721.2(DYRK1A):c.736C>T (p.Arg246Ter)SNV Pathogenic 162152 rs724159948 21:38862575-38862575 21:37490273-37490273
33 DYRK1A NM_001347721.2(DYRK1A):c.817dup (p.Ser273fs)duplication Pathogenic 162159 rs724159954 21:38862656-38862656 21:37490354-37490354
34 DYRK1A NM_001347721.2(DYRK1A):c.918dup (p.Gln307fs)duplication Pathogenic 162156 rs724159952 21:38862757-38862757 21:37490455-37490455
35 LOC101927919 , NUS1 , SLC35F1 NC_000006.11:g.(117961791_117961792)_(118280043_118280044)deldeletion Pathogenic 180225 6:117961791-118280044 6:117640628-117958881
36 LOC101927919 , NUS1 NC_000006.11:g.(117971549_117971550)_(118218719_118218720)deldeletion Pathogenic 180226 6:117971549-118218720 6:117650386-117897557
37 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
38 TBC1D24 NM_001199107.2(TBC1D24):c.1079G>T (p.Arg360Leu)SNV Pathogenic 183157 rs765965968 16:2548334-2548334 16:2498333-2498333
39 DYRK1A NM_001347721.2(DYRK1A):c.1205dup (p.Arg404fs)duplication Pathogenic 162161 rs724159956 21:38868553-38868553 21:37496251-37496251
40 DYRK1A NM_001347721.2(DYRK1A):c.1282C>T (p.Arg428Ter)SNV Pathogenic 162158 rs724159953 21:38877655-38877655 21:37505352-37505352
41 SLC2A1 NM_006516.3(SLC2A1):c.724C>T (p.Gln242Ter)SNV Pathogenic 202196 rs794729221 1:43395407-43395407 1:42929736-42929736
42 GNB1 NM_002074.5(GNB1):c.239T>C (p.Ile80Thr)SNV Pathogenic 208722 rs752746786 1:1737942-1737942 1:1806503-1806503
43 EBF3 NM_001005463.3(EBF3):c.1101+1G>TSNV Pathogenic 212723 rs797046136 10:131646655-131646655 10:129848391-129848391
44 MED13L NM_015335.4(MED13L):c.6118_6125del (p.Gly2040fs)deletion Pathogenic 221556 rs869025287 12:116406845-116406852 12:115969040-115969047
45 BBS10 NM_024685.4(BBS10):c.145C>T (p.Arg49Trp)SNV Pathogenic 225010 rs768933093 12:76741994-76741994 12:76348214-76348214
46 TCF4 NM_001083962.2(TCF4):c.520C>T (p.Arg174Ter)SNV Pathogenic 235853 rs878853149 18:53017619-53017619 18:55350388-55350388
47 SHANK3 NM_033517.1(SHANK3):c.2909_2924dup (p.Pro976fs)duplication Pathogenic 235854 rs1555910048 22:51159170-51159185 22:50720742-50720757
48 CUL4B NM_001079872.1(CUL4B):c.755_756CA[1] (p.Gln253fs)short repeat Pathogenic 235856 rs878853152 X:119681009-119681010 X:120547154-120547155
49 IL1RAPL1 NM_014271.4(IL1RAPL1):c.894_903del (p.Trp299fs)deletion Pathogenic 235849 rs878853146 X:29935696-29935705 X:29917579-29917588
50 KDM5C NM_004187.4(KDM5C):c.2152G>C (p.Ala718Pro)SNV Pathogenic 235844 rs878853141 X:53228250-53228250 X:53199068-53199068

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

Expression for Alacrima, Achalasia, and Mental Retardation Syndrome

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

Pathways for Alacrima, Achalasia, and Mental Retardation Syndrome

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.05 CAMK2B CAMK2A CACNA1A ATP2B3
2
Show member pathways
11.94 CUL4B CTNNB1 BPTF AHDC1
3
Show member pathways
11.55 CAMK2B CAMK2A CACNA1A ATP2B3
4 10.58 CTNNB1 CAMK2B CAMK2A

GO Terms for Alacrima, Achalasia, and Mental Retardation Syndrome

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 DHX30 CHD3 CAMK2B CAMK2A BBS10 ATRX
2 calmodulin-dependent protein kinase activity GO:0004683 8.96 CAMK2B CAMK2A

Sources for Alacrima, Achalasia, and Mental Retardation Syndrome

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
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