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 57 74 29 6 40 72
Intellectual Disability 44 40 72
Aamr 57 74

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth or in infancy


HPO:

32
alacrima, achalasia, and mental retardation syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 615510
UMLS 72 C3714756 C3809738

Summaries for Alacrima, Achalasia, and Mental Retardation Syndrome

OMIM : 57 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 syndromic intellectual disability and autosomal dominant non-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 Neuroscience and Myometrial Relaxation and Contraction Pathways. The drugs Prednisolone phosphate 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 : 74 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 2272)
# Related Disease Score Top Affiliating Genes
1 syndromic intellectual disability 34.8 DYRK1A BRPF1 ATRX
2 autosomal dominant non-syndromic intellectual disability 34.7 EEF1A2 CAMK2B CAMK2A AHDC1
3 microcephaly 32.9 DYRK1A DHX30 BPTF ATRX ATP2B3
4 visual epilepsy 31.9 DYRK1A DHX30 CUL4B C12orf57
5 aceruloplasminemia 30.9 FMR1 CACNA1A ATP2B3
6 cerebellar atrophy, developmental delay, and seizures 30.6 EBF3 BRPF1
7 alpha thalassemia-x-linked intellectual disability syndrome 12.6
8 spastic paraplegia, intellectual disability, nystagmus, and obesity 12.6
9 hivep2-related intellectual disability 12.5
10 syndromic x-linked intellectual disability snyder type 12.5
11 developmental delay, intellectual disability, obesity, and dysmorphism 12.5
12 autosomal recessive non-syndromic intellectual disability 12.5
13 syngap1-related intellectual disability 12.5
14 non-syndromic x-linked intellectual disability 12.5
15 non-syndromic intellectual disability 12.5
16 dandy-walker malformation with intellectual disability, basal ganglia disease and seizures 12.5
17 autosomal dominant non-syndromic intellectual disability 5 12.5
18 x-linked intellectual disability, turner type 12.5
19 muscular dystrophy, congenital, with cataracts and intellectual disability 12.5
20 autosomal dominant non-syndromic intellectual disability 3 12.5
21 autosomal dominant non-syndromic intellectual disability 4 12.5
22 autosomal dominant non-syndromic intellectual disability 9 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 cask-related intellectual disability 12.4
28 corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome 12.4
29 white matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome 12.4
30 autosomal dominant intellectual disability 30 12.4
31 syndromic x-linked intellectual disability 7 12.4
32 blepharophimosis intellectual disability syndromes 12.4
33 hypoparathyroidism-intellectual disability-dysmorphism syndrome 12.4
34 intellectual disability-severe speech delay-mild dysmorphism syndrome 12.4
35 retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome 12.4
36 severe intellectual disability-progressive spastic diplegia syndrome 12.4
37 syngap1-related non-syndromic intellectual disability 12.4
38 syndromic x-linked intellectual disability 12.4
39 intellectual disability-developmental delay-contractures syndrome 12.4
40 syndromic x-linked intellectual disability 12 12.4
41 syndromic x-linked intellectual disability type 10 12.4
42 syndromic x-linked intellectual disability turner type 12.4
43 aniridia - ptosis - intellectual disability - familial obesity 12.4
44 aortic arch anomaly - peculiar facies - intellectual disability 12.4
45 arachnodactyly - intellectual disability - dysmorphism 12.4
46 x-linked intellectual disability - corpus callosum agenesis - spastic quadriparesis 12.4
47 syndromic x-linked intellectual disability siderius type 12.4
48 syndromic x-linked intellectual disability nascimento type 12.4
49 brachydactyly-mesomelia-intellectual disability-heart defects syndrome 12.4
50 mbd25-related intellectual disability 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:

32 (show all 17)
# Description HPO Frequency HPO Source Accession
1 nystagmus 32 occasional (7.5%) HP:0000639
2 gait disturbance 32 occasional (7.5%) HP:0001288
3 hearing impairment 32 occasional (7.5%) HP:0000365
4 generalized hypotonia 32 occasional (7.5%) HP:0001290
5 hyperkeratosis 32 occasional (7.5%) HP:0000962
6 strabismus 32 occasional (7.5%) HP:0000486
7 hypohidrosis 32 occasional (7.5%) HP:0000966
8 nasal speech 32 occasional (7.5%) HP:0001611
9 orthostatic hypotension 32 occasional (7.5%) HP:0001278
10 sensory impairment 32 occasional (7.5%) HP:0003474
11 anisocoria 32 occasional (7.5%) HP:0009916
12 intellectual disability 32 HP:0001249
13 dysphagia 32 HP:0002015
14 global developmental delay 32 HP:0001263
15 feeding difficulties 32 HP:0011968
16 achalasia 32 HP:0002571
17 alacrima 32 HP:0000522

Symptoms via clinical synopsis from OMIM:

57
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

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased vaccinia virus (VACV) infection GR00249-S 9.6 AHDC1 ANKRD11 ATRX BBS10 BPTF BRPF1

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.06 ANKRD11 ATRX BBS10 BRPF1 CACNA1A CAMK2A
2 growth/size/body region MP:0005378 9.97 ANKRD11 ATRX BBS10 BPTF BRPF1 CACNA1A
3 cellular MP:0005384 9.96 ATRX BBS10 BPTF BRPF1 CACNA1A CAMK2A
4 mortality/aging MP:0010768 9.77 ANKRD11 ATRX BBS10 BPTF BRPF1 C12orf57
5 nervous system MP:0003631 9.4 ATRX BBS10 BRPF1 CACNA1A CAMK2A CAMK2B

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 207)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
2
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
3
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
4
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
5
Zonisamide Approved, Investigational Phase 4 68291-97-4 5734
6
Rufinamide Approved Phase 4 106308-44-5 129228
7
Nitrazepam Approved Phase 4 146-22-5 4506
8
Oxcarbazepine Approved Phase 4 28721-07-5 34312
9
Felbamate Approved Phase 4 25451-15-4 3331
10
Clonazepam Approved, Illicit Phase 4 1622-61-3 2802
11
Acetazolamide Approved, Vet_approved Phase 4 59-66-5 1986
12
Phenobarbital Approved, Investigational Phase 4 50-06-6 4763
13
Clobazam Approved, Illicit Phase 4 22316-47-8 2789
14
Gabapentin Approved, Investigational Phase 4 60142-96-3 3446
15
Lamotrigine Approved, Investigational Phase 4 84057-84-1 3878
16
Vigabatrin Approved Phase 4 60643-86-9, 68506-86-5 5665
17
Pregabalin Approved, Illicit, Investigational Phase 4 148553-50-8 5486971
18
Ethosuximide Approved Phase 4 77-67-8 3291
19
Tiagabine Approved, Investigational Phase 4 115103-54-3 60648
20
Phenytoin Approved, Vet_approved Phase 4 57-41-0 1775
21
Carbamazepine Approved, Investigational Phase 4 298-46-4 2554
22
Levetiracetam Approved, Investigational Phase 4 102767-28-2 441341
23
Valproic acid Approved, Investigational Phase 4 99-66-1 3121
24
Celiprolol Approved, Investigational Phase 4 56980-93-9
25
Riluzole Approved, Investigational Phase 4 1744-22-5 5070
26
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
27
Milnacipran Approved, Investigational Phase 4 92623-85-3 65833
28
Norepinephrine Approved Phase 4 51-41-2 439260
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
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
33 Methylprednisolone Acetate Phase 4
34 Prednisolone acetate Phase 4
35 Neurotransmitter Agents Phase 4
36 Peripheral Nervous System Agents Phase 4
37 Omega 3 Fatty Acid Phase 4
38 Autonomic Agents Phase 4
39 Central Nervous System Depressants Phase 4
40 Tranquilizing Agents Phase 4
41 GABA Agents Phase 4
42 Antimanic Agents Phase 4
43 Sympathomimetics Phase 4
44 Antihypertensive Agents Phase 4
45 Adrenergic beta-1 Receptor Antagonists Phase 4
46 Adrenergic beta-Antagonists Phase 4
47 Adrenergic Antagonists Phase 4
48 Adrenergic Agents Phase 4
49 Anti-Arrhythmia Agents Phase 4
50 Vasodilator Agents Phase 4

Interventional clinical trials:

(show top 50) (show all 229)
# 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 Prevention of Vascular Complications by BetaBlocker Treatment in Vascular Ehlers-Danlos Syndrome Completed NCT00190411 Phase 4 celiprolol;Control
3 Riluzole in Fragile X Syndrome: A Pilot Study Incorporating Biomarker Assay Completed NCT00895752 Phase 4 Riluzole
4 Milnacipran in Autism and the Functional Locus Coeruleus and Noradrenergic Model of Autism Completed NCT01337700 Phase 4 Milnacipran;Placebo
5 Combining Lovastatin and a Parent-Implemented Language Intervention in a Multimodal Treatment for Fragile X Syndrome Completed NCT02642653 Phase 4 Lovastatin
6 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
7 Use of Sustained Release Antiepileptic Medication (Depakote® ER) for Pediatric Epilepsy in a Mental Retardation/Developmental Disorder Population Completed NCT00207935 Phase 4
8 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
9 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
10 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
11 Efficacy of RAD001/Everolimus in Autism and NeuroPsychological Deficits in Children With Tuberous Sclerosis Complex Unknown status NCT01730209 Phase 2, Phase 3 Everolimus;Placebo
12 Stereotypies and Mental Retardation: Neurobiological Basis Unknown status NCT00491478 Phase 3 sertraline
13 Behavioral and Biochemical Mechanisms of Self-Injury Unknown status NCT00065936 Phase 3 Naltrexone hydrochloride
14 Multicenter Vitamin E Trial in Aging Persons With Down Syndrome Unknown status NCT00056329 Phase 3 Vitamin E;multivitamin;Placebo
15 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
16 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
17 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
18 Evolution of Albumin on AOA1 Patients Supplemented With Coenzyme Q10 Completed NCT02333305 Phase 3
19 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
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 Effectiveness of PTSD Treatment For Suicidal and Multi-Diagnostic Clients Active, not recruiting NCT02615197 Phase 2, Phase 3
23 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
24 Sulfamethoxazole for the Treatment of Primary PREPL Deficiency (In Dutch: Sulfamethoxazole Ter Behandeling Van Primaire PREPL deficiëntie) Unknown status NCT02640443 Phase 2 Sulfamethoxazole
25 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
26 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
27 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
28 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
29 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
30 Estrogen Receptors Beta (ER-B) as Therapeutic Targets for the Improvement of Cognitive Performance in Fragile-X (TESXF) Completed NCT01855971 Phase 2
31 Belatacept (Nulojix) in Renal Transplant Recipient With Mild Immunologic Risk Factor: a Pilot Prospective Study Completed NCT02738918 Phase 2 Nulojix (Belatacept)
32 Effects of Social Gaze Training on Brain and Behavior in Fragile X Syndrome Recruiting NCT02616796 Phase 1, Phase 2
33 Specifying and Treating the Anxiety Phenotype in Autism Spectrum Disorder Recruiting NCT03279471 Phase 2 Sertraline;Placebo
34 Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS) Recruiting NCT01773278 Phase 2 Antioxidants;Cholesterol
35 Radiation- and Alkylator-free Hematopoietic Cell Transplantation for Bone Marrow Failure Due to Dyskeratosis Congenita / Telomere Disease Recruiting NCT01659606 Phase 2 Fludarabine;Cyclosporins;Mycophenolate mofetil
36 A Randomized Double-Blind Controlled Trial of Everolimus in Individuals With PTEN Mutations (RAD001XUS257T) Recruiting NCT02991807 Phase 1, Phase 2 RAD001;Placebo
37 A Double-Blind, Placebo-Controlled Trial of Metformin in Individuals With Fragile X Syndrome (FXS) Recruiting NCT03862950 Phase 2 Placebo Medication;Metformin
38 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
39 Phase II Study of Stereotypes and Mental Retardation: Neurobiological Basis Suspended NCT00004300 Phase 2 bromocriptine;sertraline hydrochloride
40 Manipulating the Gut Microbiome Study Terminated NCT03181828 Phase 1, Phase 2 Acetohydroxamic Acid Oral Tablet [Lithostat]
41 PREDICTORS (Parents Resources for Decreasing the Incidence of Change Triggered Temper Outbursts) Unknown status NCT02567357 Phase 1
42 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
43 Pharmacokinetics of Orally Administered Dasotraline in Subjects With Mild, Moderate, and Severe Hepatic Dysfunction Completed NCT02795637 Phase 1 dasotraline
44 Stem Cell Therapy in Mental Retardation Withdrawn NCT02245724 Phase 1
45 Improving Adherence Healthy Lifestyle on a Smartphone Based on Complementation Adults With Intellectual Disabilities Unknown status NCT01915381
46 Demographic Characteristics of Children Suffering From Mental Retardation or Cerebral Palsy in the Israeli Arab Community Unknown status NCT02214745
47 Evaluation of Tools for the Simultaneous Detection of Point and Structural Mutations in Patients With Intellectual Disability Unknown status NCT02881333
48 Augmentative and Alternative Communication in Games With Virtual Reality in Intellectual Disabilities Unknown status NCT03033797
49 The Associative Memory in Autism Spectrum Disorders Without Intellectual Disability Unknown status NCT02279680
50 Pain and Emotional Expression in Children With Autism or Mental Retardation Unknown status NCT01043822

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

Inferred drug relations via UMLS 72 / NDF-RT 51 :


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:

41
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 12183)
# Title Authors PMID Year
1
Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction. 38 8 71
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. 38 71
21956720 2011
3
Mental health among Sami people with intellectual disabilities. 38
30664403 2019
4
A Christianson syndrome-linked deletion mutation (Δ287ES288) in SLC9A6 impairs hippocampal neuronal plasticity. 38
31175985 2019
5
Associations between electroencephalography power and Alzheimer's disease in persons with Down syndrome. 38
31025465 2019
6
Sex-Dependent Sensory Phenotypes and Related Transcriptomic Expression Profiles Are Differentially Affected by Angelman Syndrome. 38
30706369 2019
7
A novel de novo MTOR gain-of-function variant in a patient with Smith-Kingsmore syndrome and Antiphospholipid syndrome. 38
31053780 2019
8
A missense variant of SMC1A causes periodic pharmaco-resistant cluster seizures similar to PCDH19-related epilepsy. 38
31185419 2019
9
Phenotype evolution and health issues of adults with Beckwith-Wiedemann syndrome. 38
31339634 2019
10
Immunity and mental illness: findings from a Danish population-based immunogenetic study of seven psychiatric and neurodevelopmental disorders. 38
30976114 2019
11
Exome sequencing of sporadic childhood-onset schizophrenia suggests the contribution of X-linked genes in males. 38
30378261 2019
12
Neonatal treatment with cyclosporine A restores neurogenesis and spinogenesis in the Ts65Dn model of Down syndrome. 38
31085229 2019
13
Changes in Body Composition and Physical Fitness in Adolescents with Down Syndrome: The UP&DOWN Longitudinal Study. 38
31170003 2019
14
Examining the effects of computerised cognitive training on levels of executive function in adults with Down syndrome. 38
31062455 2019
15
'Transformed rights' sexual health programme evaluation for the parents and service workers of adults with an intellectual disability. 38
31016807 2019
16
From thinking to acting: occupational self-analysis tools for use with people with intellectual disability. A pilot study. 38
31017354 2019
17
A mouse model for intellectual disability caused by mutations in the X-linked 2'‑O‑methyltransferase Ftsj1 gene. 38
30557699 2019
18
Theory of mind development in school environment: A case of children with mild intellectual disability learning in inclusive and special education classrooms. 38
31069902 2019
19
Exome sequencing findings in 27 patients with myoclonic-atonic epilepsy: Is there a major genetic factor? 38
31170314 2019
20
Deoxythymidylate kinase, DTYMK, is a novel gene for mitochondrial DNA depletion syndrome. 38
31271740 2019
21
Novel HIVEP2 Variant p.Q1248* is Associated with Developmental Delay: A Case Report. 38
31406623 2019
22
MAP1B related syndrome: Case presentation and review of literature. 38
31317654 2019
23
Screening for intellectual disabilities and borderline intelligence in Dutch outpatients with severe mental illness. 38
31033102 2019
24
Missense variant in TPI1 (Arg189Gln) causes neurologic deficits through structural changes in the triosephosphate isomerase catalytic site and reduced enzyme levels in vivo. 38
31075491 2019
25
The neuroanatomy of Eml1 knockout mice, a model of subcortical heterotopia. 38
31173351 2019
26
Danon disease: Two patients with atrial fibrillation in a single family and review of the literature. 38
31410105 2019
27
Hyperkinetic movement disorders in congenital disorders of glycosylation. 38
31132195 2019
28
Aging With Intellectual Disabilities in Families: Navigating Ever-Changing Seas-A Theoretical Model. 38
31068091 2019
29
Vaccinia-related kinase 2 plays a critical role in microglia-mediated synapse elimination during neurodevelopment. 38
31050055 2019
30
Expanding phenotype with severe midline brain anomalies and missense variant supports a causal role for FOXA2 in 20p11.2 deletion syndrome. 38
31294511 2019
31
Primary immunodeficiency with chronic enteropathy and developmental delay in a boy arising from a novel homozygous RIPK1 variant. 38
31213653 2019
32
Hearing impairment as an early sign of alpha-mannosidosis in children with a mild phenotype: Report of seven new cases. 38
31241255 2019
33
Phenotypic and mutational spectrum of thirty-five patients with Sjögren-Larsson syndrome: identification of eleven novel ALDH3A2 mutations and founder effects. 38
31273323 2019
34
Converting tests of fundamental social, cognitive, and affective processes into clinically useful bio-behavioral markers for neurodevelopmental conditions. 38
30945452 2019
35
Relationship between the Vineland Adaptive Behaviour Scales and the Wechsler Adult Intelligence Scale IV in adults with intellectual disabilities. 38
30784131 2019
36
Long-term prognosis of epilepsy in patients with cerebral palsy. 38
30854645 2019
37
Teaching early reading skills to children with severe intellectual disabilities using Headsprout Early Reading. 38
31033106 2019
38
Formal Modeling of the Resistance to Peer Influence Questionnaire: A Comparison of Adolescent Boys and Girls With and Without Mild-to-Borderline Intellectual Disability. 38
31409142 2019
39
Delineation of MidXq28-duplication syndrome distal to MECP2 and proximal to RAB39B genes. 38
31090057 2019
40
Altered inhibition and excitation in neocortical circuits in congenital microcephaly. 38
31102767 2019
41
Expanding the phenotype of intellectual disability caused by HIVEP2 variants. 38
31207095 2019
42
What do parents expect from a genetic diagnosis of their child with intellectual disability? 38
30983121 2019
43
Crime and victimization among people with intellectual disability with and without comorbid mental illness. 38
30990251 2019
44
Differential reinforcement of high rates of behaviour to increase work productivity in adults with intellectual disability. 38
31038243 2019
45
Advances in identification of genes involved in autosomal recessive intellectual disability: a brief review. 38
30842223 2019
46
Cardiopulmonary Profile of Individuals with Intellectual Disability. 38
30925577 2019
47
Content validation of the Quality of Life Inventory-Disability. 38
31163096 2019
48
Brief Report: Vocabulary and Grammatical Skills of Bilingual Children with Autism Spectrum Disorders at School Age. 38
31124028 2019
49
Bladder and bowel dysfunction, adaptive behaviour and psychiatric profiles in adults affected by autism spectrum disorders. 38
31270838 2019
50
Atypical Pattern of Frontal EEG Asymmetry for Direct Gaze in Young Children with Autism Spectrum Disorder. 38
31124026 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 364)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 RAC3 NM_005052.3(RAC3): c.86C> T (p.Pro29Leu) single nucleotide variant association 17:79990313-79990313 17:82032437-82032437
2 RAC3 NM_005052.3(RAC3): c.182A> T (p.Gln61Leu) single nucleotide variant association 17:79990661-79990661 17:82032785-82032785
3 EBF3 NM_001005463.3(EBF3): c.488G> T (p.Arg163Leu) single nucleotide variant Pathogenic rs1057519389 10:131755588-131755588 10:129957324-129957324
4 MED12L NM_053002.5(MED12L): c.1746dup (p.Ser583fs) duplication Pathogenic 3:150906260-150906260 3:151188473-151188473
5 TCF20 NM_005650.3(TCF20): c.4774C> T (p.Gln1592Ter) single nucleotide variant Pathogenic 22:42606538-42606538 22:42210532-42210532
6 BRPF1 NM_001003694.2(BRPF1): c.1050_1051TG[1] (p.Val351fs) short repeat Pathogenic rs886041090 3:9781135-9781136 3:9739451-9739452
7 FMR1 NC_000023.10: g.(?_147030199)_(147046357_?)del deletion Pathogenic X:147030199-147046357 :0-0
8 FMR1 NM_002024.5(FMR1): c.420-8A> G single nucleotide variant Pathogenic rs886041088 X:147011459-147011459 X:147929940-147929940
9 FMR1 NM_002024.5(FMR1): c.990+1G> A single nucleotide variant Pathogenic rs886041089 X:147018133-147018133 X:147936614-147936614
10 WASF1 NM_003931.3(WASF1): c.1558C> T (p.Gln520Ter) single nucleotide variant Pathogenic 6:110421847-110421847 6:110100644-110100644
11 WASF1 NM_003931.3(WASF1): c.1516C> T (p.Arg506Ter) single nucleotide variant Pathogenic 6:110422797-110422797 6:110101594-110101594
12 WASF1 NM_003931.3(WASF1): c.1482delinsGCCAGG (p.Ile494fs) indel Pathogenic 6:110422831-110422831 6:110101628-110101628
13 FOXP1 NM_032682.5(FOXP1): c.1348+1G> C single nucleotide variant Pathogenic 3:71026978-71026978 3:70977827-70977827
14 TCF20 NM_005650.3(TCF20): c.3760dup (p.Arg1254fs) duplication Pathogenic 22:42607552-42607552 22:42211546-42211546
15 subset of 38 genes:DLG2 ; FZD4 GRCh37/hg19 11q14.1-14.3(chr11: 81771852-90851187) copy number loss Pathogenic 11:81771852-90851187 :0-0
16 MED12L NM_053002.5(MED12L): c.5371C> T (p.Arg1791Ter) single nucleotide variant Pathogenic 3:151107791-151107791 3:151390003-151390003
17 MED12L NM_053002.5(MED12L): c.4686-1G> A single nucleotide variant Pathogenic 3:151101870-151101870 3:151384082-151384082
18 MED12L NM_053002.5(MED12L): c.4377G> A (p.Met1459Ile) single nucleotide variant Pathogenic 3:151097904-151097904 3:151380116-151380116
19 NLGN3 NM_018977.4(NLGN3): c.1540C> T (p.Pro514Ser) single nucleotide variant Pathogenic X:70387547-70387547 X:71167697-71167697
20 KCNB1 NM_004975.4(KCNB1): c.1747C> T (p.Arg583Ter) single nucleotide variant Pathogenic 20:47990350-47990350 20:49373813-49373813
21 SVBP NM_199342.4(SVBP): c.82C> T (p.Gln28Ter) single nucleotide variant Pathogenic 1:43282134-43282134 1:42816463-42816463
22 SVBP NM_199342.4(SVBP): c.39_42del (p.Lys13fs) deletion Pathogenic 1:43282174-43282177 1:42816505-42816508
23 KCNB1 NM_004975.4(KCNB1): c.1115C> T (p.Thr372Ile) single nucleotide variant Pathogenic 20:47990982-47990982 20:49374445-49374445
24 NRXN1 NM_001135659.2(NRXN1): c.872-1G> T single nucleotide variant Pathogenic 2:51153094-51153094 2:50925956-50925956
25 VPS13B NM_017890.4(VPS13B): c.4620del (p.Ser1541fs) deletion Pathogenic rs1057518939 8:100523652-100523652 8:99511424-99511424
26 GJA1 NM_000165.5(GJA1): c.440T> C (p.Met147Thr) single nucleotide variant Pathogenic rs1057518872 6:121768433-121768433 6:121447287-121447287
27 MPP4 NM_033066.3(MPP4): c.946T> C (p.Trp316Arg) single nucleotide variant Pathogenic rs1057519443 2:202539978-202539978 2:201675255-201675255
28 DHX30 NM_138615.3(DHX30): c.2344C> T (p.Arg782Trp) single nucleotide variant Pathogenic rs753242774 3:47889727-47889727 3:47848237-47848237
29 OTUD6B NM_016023.5(OTUD6B): c.343C> T (p.Arg115Ter) single nucleotide variant Pathogenic rs368313959 8:92090611-92090611 8:91078383-91078383
30 OTUD6B NM_016023.5(OTUD6B): c.379_383del (p.Leu127fs) deletion Pathogenic rs759317757 8:92090647-92090651 8:91078419-91078423
31 OTUD6B NM_016023.5(OTUD6B): c.83-2A> G single nucleotide variant Pathogenic rs1064797102 8:92083364-92083364 8:91071136-91071136
32 CAMK2A NM_015981.4(CAMK2A): c.1237+1G> A single nucleotide variant Pathogenic rs113331868 5:149607754-149607754 5:150228191-150228191
33 CAMK2A NM_015981.4(CAMK2A): c.856A> C (p.Thr286Pro) single nucleotide variant Pathogenic rs1554121872 5:149629833-149629833 5:150250270-150250270
34 CAMK2A NM_015981.4(CAMK2A): c.845A> G (p.His282Arg) single nucleotide variant Pathogenic rs1554121875 5:149629844-149629844 5:150250281-150250281
35 CAMK2A NM_015981.4(CAMK2A): c.635C> T (p.Pro212Leu) single nucleotide variant Pathogenic rs926027867 5:149631371-149631371 5:150251808-150251808
36 CAMK2A NM_015981.4(CAMK2A): c.548A> T (p.Glu183Val) single nucleotide variant Pathogenic rs1554122129 5:149631595-149631595 5:150252032-150252032
37 CAMK2A NM_015981.4(CAMK2A): c.327G> C (p.Glu109Asp) single nucleotide variant Pathogenic rs1287121256 5:149636340-149636340 5:150256777-150256777
38 CAMK2A NM_015981.4(CAMK2A): c.293T> C (p.Phe98Ser) single nucleotide variant Pathogenic rs1554122526 5:149636374-149636374 5:150256811-150256811
39 CAMK2B NM_001220.5(CAMK2B): c.328G> A (p.Glu110Lys) single nucleotide variant Pathogenic rs1554402092 7:44294154-44294154 7:44254555-44254555
40 CAMK2B NM_001220.5(CAMK2B): c.85C> T (p.Arg29Ter) single nucleotide variant Pathogenic rs1554434435 7:44323805-44323805 7:44284206-44284206
41 BPTF NM_004459.7(BPTF): c.989del (p.Leu330fs) deletion Pathogenic rs1135401778 17:65850431-65850431 17:67854315-67854315
42 ZNF292 NM_015021.3(ZNF292): c.3066_3069del (p.Glu1022fs) deletion Pathogenic rs1135401779 6:87966413-87966416 6:87256695-87256698
43 GMPPA NM_013335.4(GMPPA): c.853+1G> A single nucleotide variant Pathogenic rs1553624347 2:220370278-220370278 2:219505556-219505556
44 CAMK2B NM_001220.5(CAMK2B): c.820-1G> A single nucleotide variant Pathogenic rs1554385305 7:44281383-44281383 7:44241784-44241784
45 CAMK2B NM_001220.5(CAMK2B): c.709G> A (p.Glu237Lys) single nucleotide variant Pathogenic rs1554386687 7:44281927-44281927 7:44242328-44242328
46 subset of 24 genes:MAGEL2 ; SNURF ; UBE3A GRCh37/hg19 15q11.2-13.1(chr15: 23810397-29213787) copy number gain Pathogenic 15:23810397-29213787 :0-0
47 subset of 77 genes:IRF6 GRCh37/hg19 1q32.1-32.3(chr1: 204682513-212815646) copy number loss Pathogenic 1:204682513-212815646 :0-0
48 subset of 13 genes:CSMD1 GRCh37/hg19 8p23.3-23.1(chr8: 191530-6644251) copy number loss Pathogenic 8:191530-6644251 :0-0
49 covers 88 genes, none of which curated to show dosage sensitivity GRCh37/hg19 8q24.3(chr8: 142840194-146280020) copy number gain Pathogenic 8:142840194-146280020 :0-0
50 subset of 21 genes:AVPR2 ; FLNA ; GDI1 ; L1CAM ; MECP2 GRCh37/hg19 Xq28(chrX: 153138672-153665655) copy number gain Pathogenic X:153138672-153665655 :0-0

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

74
# 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 Chromosom 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 25568 1 191357783 191487679 Deletion CDC73 Intellectual disability
4 26008 1 195504030 195714208 Amplification CRB1 Intellectual disability
5 26062 1 196392816 196555392 Deletion NEK7 Intellectual disability
6 27599 1 21005560 21375927 Deletion EIF4G3 Intellectual disability
7 29199 1 228844880 228896351 Amplification COG2 Intellectual disability
8 29770 1 235537560 237086860 Deletion Intellectual disability
9 34281 1 54291861 54350780 Deletion C1orf83 Intellectual disability
10 35404 1 63278601 174979260 Duplication Intellectual disability
11 35871 1 68336738 68470841 Amplification GPR177 Intellectual disability
12 36503 1 76466419 77200494 Duplication Intellectual disability
13 37402 1 90483825 90786224 Duplication Intellectual disability
14 39670 10 118177413 118227458 Amplification PNLIPRP3 Intellectual disability
15 40487 10 128662416 129042087 Deletion Intellectual disability
16 41143 10 13725711 14412872 Deletion FRMD4A Intellectual disability
17 42897 10 42100000 46100000 Deletion ZNF487 Intellectual disability
18 43203 10 45480000 51585000 Deletion Intellectual disability
19 43209 10 45512000 51585000 Deletion Intellectual disability
20 43225 10 45612000 51585000 Deletion Intellectual disability
21 43250 10 45927753 51581847 Deletion Intellectual disability
22 43254 10 45947671 51263703 Deletion Intellectual disability
23 43263 10 45979000 56907000 Deletion Intellectual disability
24 43292 10 46100000 53300000 Deletion Intellectual disability
25 43382 10 46384979 51265056 Deletion Intellectual disability
26 43389 10 46384979 52085077 Deletion Intellectual disability
27 43411 10 46400346 51237832 Deletion Intellectual disability
28 43734 10 48871525 50765047 Deletion Intellectual disability
29 43745 10 48941000 52218000 Deletion Intellectual disability
30 43760 10 49062854 52062367 Deletion Intellectual disability
31 43770 10 49121974 50641724 Deletion Intellectual disability
32 43868 10 50239677 50581445 Duplication Intellectual disability
33 43876 10 50334496 50417153 Deletion ERCC6 Intellectual disability
34 49425 11 106880543 106941637 Amplification ALKBH8 Intellectual disability
35 49436 11 106967286 107042715 Amplification ELMOD1 Intellectual disability
36 51015 11 121813520 134447248 Deletion Intellectual disability
37 51445 11 12633728 121813520 Deletion Intellectual disability
38 51830 11 131586860 131711926 Amplification HNT Intellectual disability
39 52967 11 22232079 25091772 Deletion Intellectual disability
40 55056 11 48800000 51400000 Duplication Intellectual disability
41 59763 11 77603989 77806414 Amplification GAB2 Intellectual disability
42 61307 11 98397080 99732683 Amplification CNTN5 Intellectual disability
43 66448 12 29384845 29425410 Amplification ERGIC2 Intellectual disability
44 66460 12 29545023 29828959 Amplification TMTC1 Intellectual disability
45 66846 12 33200000 35400000 Duplication Intellectual disability
46 72246 12 77781903 78368973 Amplification SYT1 Intellectual disability
47 73252 12 92595281 92768662 Deletion CRADD Intellectual disability
48 76600 13 33290205 33438695 Deletion RFC3 Intellectual disability
49 78884 13 59137723 59636120 Amplification DIAPH3 Intellectual disability
50 79165 13 65774966 66702464 Amplification PCDH9 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 11.99 FMR1 DYRK1A CAMK2B CAMK2A
2
Show member pathways
11.75 CAMK2B CAMK2A CACNA1A ATP2B3
3
Show member pathways
11.22 CAMK2B CAMK2A CACNA1A ATP2B3

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 presynapse GO:0098793 9.33 FMR1 CACNA1A ATP2B3
2 nucleoplasm GO:0005654 9.32 FMR1 DYRK1A CUL4B CHD3 CAMK2B CAMK2A
3 ribonucleoprotein granule GO:0035770 8.96 FMR1 DHX30
4 nucleus GO:0005634 10.07 FMR1 EEF1A2 EBF3 DYRK1A DHX30 CUL4B

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 9.67 CHD3 BRPF1 BPTF ATRX
2 calcium ion transport GO:0006816 9.58 CAMK2A CACNA1A ATP2B3
3 regulation of neurotransmitter secretion GO:0046928 9.32 FMR1 CAMK2A
4 regulation of neuron migration GO:2001222 9.26 CAMK2B CAMK2A
5 cellular response to hydroxyurea GO:0072711 9.16 FMR1 ATRX
6 DNA duplex unwinding GO:0032508 9.13 DHX30 CHD3 ATRX
7 regulation of dendritic spine development GO:0060998 8.62 FMR1 CAMK2B

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

# Name GO ID Score Top Affiliating Genes
1 helicase activity GO:0004386 9.5 DHX30 CHD3 ATRX
2 methylated histone binding GO:0035064 9.33 FMR1 BPTF ATRX
3 calmodulin-dependent protein kinase activity GO:0004683 9.26 CAMK2B CAMK2A
4 ATP binding GO:0005524 9.23 DYRK1A DHX30 CHD3 CAMK2B CAMK2A BBS10
5 G-quadruplex RNA binding GO:0002151 8.96 FMR1 DHX30

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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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