AAMR
MCID: ALC028
MIFTS: 64

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 autosomal dominant non-syndromic 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 Prednisolone phosphate and Methylprednisolone have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and bone, and related phenotypes are hearing impairment 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 2307)
# Related Disease Score Top Affiliating Genes
1 autosomal dominant non-syndromic intellectual disability 34.7 CAMK2B CAMK2A ATRX ANKRD11 AHDC1
2 syndromic intellectual disability 34.7 CTNNB1 BRPF1 ATRX ARX
3 partington x-linked mental retardation syndrome 33.5 ARX AFF2
4 microcephaly 33.0 CTNNB1 CAMK2B BPTF ATRX ATP2B3 ARX
5 autism 32.5 CTNNB1 CAMK2B CAMK2A CACNA1A BPTF ATRX
6 visual epilepsy 31.8 CUL4B C12orf57 BPTF ANKRD11
7 attention deficit-hyperactivity disorder 31.7 CAMK2A CACNA1A C12orf57 C12orf4 ATP2B3
8 alpha thalassemia-x-linked intellectual disability syndrome 12.7
9 syndromic x-linked intellectual disability snyder type 12.6
10 non-syndromic x-linked intellectual disability 12.6
11 spastic paraplegia, intellectual disability, nystagmus, and obesity 12.6
12 hivep2-related intellectual disability 12.6
13 autosomal recessive non-syndromic intellectual disability 12.6
14 non-syndromic intellectual disability 12.5
15 syngap1-related intellectual disability 12.5
16 muscular dystrophy, congenital, with cataracts and intellectual disability 12.5
17 autosomal dominant non-syndromic intellectual disability 5 12.5
18 ppp2r5d-related intellectual disability 12.5
19 x-linked intellectual disability, turner type 12.5
20 autosomal dominant non-syndromic intellectual disability 3 12.5
21 autosomal dominant non-syndromic intellectual disability 4 12.5
22 syndromic x-linked intellectual disability 14 12.5
23 autosomal dominant intellectual disability 49 12.5
24 intellectual disability - athetosis - microphthalmia 12.5
25 x-linked intellectual disability, siderius type 12.4
26 syndromic x-linked intellectual disability siderius type 12.4
27 autosomal dominant intellectual disability 30 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 cask-related intellectual disability 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 syndromic x-linked intellectual disability shashi type 12.4
42 alopecia-intellectual disability syndrome 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 intellectual disability - hypoplastic corpus callosum - preauricular tag 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 x-linked intellectual disability, najm type 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 hearing impairment 31 occasional (7.5%) HP:0000365
2 gait disturbance 31 occasional (7.5%) HP:0001288
3 hyperkeratosis 31 occasional (7.5%) HP:0000962
4 nystagmus 31 occasional (7.5%) HP:0000639
5 strabismus 31 occasional (7.5%) HP:0000486
6 hypohidrosis 31 occasional (7.5%) HP:0000966
7 nasal speech 31 occasional (7.5%) HP:0001611
8 orthostatic hypotension 31 occasional (7.5%) HP:0001278
9 sensory impairment 31 occasional (7.5%) HP:0003474
10 generalized hypotonia 31 occasional (7.5%) HP:0001290
11 anisocoria 31 occasional (7.5%) HP:0009916
12 intellectual disability 31 HP:0001249
13 global developmental delay 31 HP:0001263
14 dysphagia 31 HP:0002015
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 9.97 ANKRD11 ARX ATP2B3 ATRX BBS10 BRPF1
2 growth/size/body region MP:0005378 9.73 ANKRD11 ARX ATRX BBS10 BPTF BRPF1
3 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 186)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
2
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
3
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
4 Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
5
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
6
Zonisamide Approved, Investigational Phase 4 68291-97-4 5734
7
Lamotrigine Approved, Investigational Phase 4 84057-84-1 3878
8
Rufinamide Approved Phase 4 106308-44-5 129228
9
Phenobarbital Approved, Investigational Phase 4 50-06-6 4763
10
Acetazolamide Approved, Vet_approved Phase 4 59-66-5 1986
11
Pregabalin Approved, Investigational Phase 4 148553-50-8 5486971
12
Clonazepam Approved, Illicit Phase 4 1622-61-3 2802
13
Levetiracetam Approved Phase 4 102767-28-2 441341
14
Nitrazepam Approved Phase 4 146-22-5 4506
15
Gabapentin Approved, Investigational Phase 4 60142-96-3 3446
16
Tiagabine Approved, Investigational Phase 4 115103-54-3 60648
17
Felbamate Approved Phase 4 25451-15-4 3331
18
Phenytoin Approved, Vet_approved Phase 4 57-41-0 1775
19
Clobazam Approved, Illicit Phase 4 22316-47-8 2789
20
Oxcarbazepine Approved Phase 4 28721-07-5 34312
21
Vigabatrin Approved Phase 4 68506-86-5, 60643-86-9 5665
22
Ethosuximide Approved Phase 4 77-67-8 3291
23
Carbamazepine Approved, Investigational Phase 4 298-46-4 2554
24
Valproic acid Approved, Investigational Phase 4 99-66-1 3121
25
Riluzole Approved, Investigational Phase 4 1744-22-5 5070
26
Levomilnacipran Approved, Investigational Phase 4 96847-54-0
27
Milnacipran Approved, Investigational Phase 4 92623-85-3 65833
28
Norepinephrine Approved Phase 4 51-41-2 439260
29
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
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 Neurotransmitter Agents Phase 4
35 Omega 3 Fatty Acid Phase 4
36 Excitatory Amino Acid Antagonists Phase 4
37 Analgesics Phase 4
38 Serotonin and Noradrenaline Reuptake Inhibitors Phase 4
39 Analgesics, Non-Narcotic Phase 4
40 Dopamine Agents Phase 4
41 Antiparkinson Agents Phase 4
42 Dihydromevinolin Phase 4
43 Hypolipidemic Agents Phase 4
44 Lipid Regulating Agents Phase 4
45 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4
46 Anticholesteremic Agents Phase 4
47 L 647318 Phase 4
48 Antimetabolites Phase 4
49
Sertraline Approved Phase 3 79617-96-2 68617
50
Hydrocortisone acetate Approved, Vet_approved Phase 3 50-03-3

Interventional clinical trials:

(show top 50) (show all 264)
# 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 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 Decreasing Risk of Psychosis by Sulforaphane: Study Protocol for a Randomized, Double-blind, Placebo-controlled, Clinical Multicenter Trial (DROPS Trial) Recruiting NCT03932136 Phase 3
23 Efficacy of Therapist Guided e-Therapy Versus Self-Help Therapy on Psychological Distress Among Individuals in Oman During COVID-19 Pandemic: An Open-Label 12 - Weeks Randomized Controlled Trail Not yet recruiting NCT04378257 Phase 3
24 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
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 Microbiota Transfer Therapy for Children With Both Pitt Hopkins Syndrome and Gastrointestinal Disorders Recruiting NCT04132427 Phase 2
35 Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS) Recruiting NCT01773278 Phase 2 Antioxidants;Cholesterol
36 A Double-Blind, Placebo-Controlled Trial of Metformin in Individuals With Fragile X Syndrome (FXS) Recruiting NCT03862950 Phase 2 Placebo Medication;Metformin
37 A Randomized Double-Blind Controlled Trial of Everolimus in Individuals With PTEN Mutations (RAD001XUS257T) Active, not recruiting NCT02991807 Phase 1, Phase 2 RAD001;Placebo
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 Active, not recruiting NCT02304302 Phase 2 Memantine;Placebo
39 Use of N-Acetylcysteine (NAC) in the Treatment of Repetitive Behaviors (RB) and Self-Injurious Behaviors (SIB) in Cornelia de Lange Syndrome: A Randomized Double-Blind Placebo-Controlled Pilot Study Not yet recruiting NCT04381897 Phase 2 N-acetyl cysteine
40 Evaluating Assessment and Medication Treatment of ADHD in Children With Down Syndrome Not yet recruiting NCT04219280 Phase 1, Phase 2 Quillivant XR;Placebos
41 Phase II Study of Stereotypes and Mental Retardation: Neurobiological Basis Suspended NCT00004300 Phase 2 bromocriptine;sertraline hydrochloride
42 Manipulating the Gut Microbiome Study Terminated NCT03181828 Phase 1, Phase 2 Acetohydroxamic Acid Oral Tablet [Lithostat]
43 PREDICTORS (Parents Resources for Decreasing the Incidence of Change Triggered Temper Outbursts) Completed NCT02567357 Phase 1
44 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
45 Pharmacokinetics of Orally Administered Dasotraline in Subjects With Mild, Moderate, and Severe Hepatic Dysfunction Completed NCT02795637 Phase 1 dasotraline
46 Cross-Species Multi-Modal Neuroimaging to Investigate GABA Physiology in Fragile X Syndrome Recruiting NCT04308954 Phase 1 [18F]flumazenil
47 Stem Cell Therapy in Mental Retardation Withdrawn NCT02245724 Phase 1
48 Molecular Diagnosis of Syndromic or Isolated Severe Intellectual Disability Using Whole Exome Sequencing : a Pilot Study Unknown status NCT02862808
49 Demographic Characteristics of Children Suffering From Mental Retardation or Cerebral Palsy in the Israeli Arab Community Unknown status NCT02214745
50 Evaluation of Tools for the Simultaneous Detection of Point and Structural Mutations in Patients With Intellectual Disability Unknown status NCT02881333

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 13611)
# Title Authors PMID Year
1
Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction. 56 6 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. 61 6
21956720 2011
3
Anterior segment optical coherence tomography and in vivo confocal microscopy in cases of mucopolysaccharidosis. 61
32405572 2020
4
Intravenous delivery for treatment of mucopolysaccharidosis type I: A comparison of AAV serotypes 9 and rh10. 61
32461912 2020
5
Epilepsy- and intellectual disability-associated CYFIP2 interacts with both actin regulators and RNA-binding proteins in the neonatal mouse forebrain. 61
32560809 2020
6
Prenatal diagnosis of 2q13 duplications: The crucial role of the family survey in genetic counseling on novel copy number variations. 61
32439619 2020
7
Variant in the neuronal vesicular SNARE VAMP2 (synaptobrevin-2): First report in Japan. 61
32336483 2020
8
Prevalence of intellectual disability in New South Wales, Australia: a multi-year cross-sectional dataset by Local Government Area (LGA). 61
32462063 2020
9
Loss of the KH1 domain of FMR1 in humans due to a synonymous variant causes global developmental retardation. 61
32446918 2020
10
A de novo 13q31.3 microduplication encompassing the miR-17 ~ 92 cluster results in features mirroring those associated with Feingold syndrome 2. 61
32473250 2020
11
Case of 15q26-qter deletion associated with a Prader-Willi phenotype. 61
32473228 2020
12
Confirmation and Expansion of the Phenotype Associated with the Recurrent p.Val837Met Variant in TRPM3. 61
32439617 2020
13
Reliability and validity of teacher ratings on the Adapted Skillstreaming Checklist for children with autism spectrum disorder. 61
31852216 2020
14
"I feel that if I didn't come to it anymore, maybe I would go back to my old ways and I don't want that to happen": Adapted sex offender treatment programmes: Views of service users with autism spectrum disorders. 61
31304657 2020
15
Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability. 61
32277047 2020
16
Immunotherapy for GRIN2A and GRIN2D-related epileptic encephalopathy. 61
32289570 2020
17
Nissen fundoplication in Cornelia de Lange syndrome spectrum: Who are the potential candidates? 61
32436647 2020
18
Exome sequencing revealed a novel homozygous METTL23 gene mutation leading to familial mild intellectual disability with dysmorphic features. 61
32439618 2020
19
Individual and contextual predictors of retention in Special Olympics for youth with intellectual disability: who stays involved? 61
32390189 2020
20
Predicting aggression in adults with intellectual disability: A pilot study of the predictive efficacy of the Current Risk of Violence and the Short Dynamic Risk Scale. 61
31496038 2020
21
Psychometric properties of the Dynamic Risk Outcome Scales (DROS) for individuals with mild intellectual disability or borderline intellectual functioning and externalizing behaviour problems. 61
30460720 2020
22
Coffin-Siris Syndrome-1: Report of five cases from Asian populations with truncating mutations in the ARID1B gene. 61
32339967 2020
23
Intellectual functioning and behavior in Dravet syndrome: A systematic review. 61
32334365 2020
24
An apparent new syndrome of extreme short stature, microcephaly, dysmorphic faces, intellectual disability, and a bone dysplasia of unknown etiology. 61
32426895 2020
25
De novo mutations of TUBB2A cause infantile-onset epilepsy and developmental delay. 61
32203252 2020
26
Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy. 61
32196822 2020
27
Novel de novo TRIP12 mutation reveals variable phenotypic presentation while emphasizing core features of TRIP12 variations. 61
32424948 2020
28
PDCD6IP, encoding a regulator of the ESCRT complex, is mutated in microcephaly. 61
32286682 2020
29
Further delineation of Basel-Vanagaite-Smirin-Yosef syndrome: Report of three patients. 61
32324310 2020
30
Seizures and Epilepsy in Autism Spectrum Disorder. 61
32471597 2020
31
The inter-relationships between cerebral visual impairment, autism and intellectual disability. 61
32298709 2020
32
Int22h1/Int22h2-mediated Xq28 duplication syndrome: de novo duplications, prenatal diagnoses, and additional phenotypic features. 61
32112660 2020
33
A homozygous MRPL24 mutation causes a complex movement disorder and affects the mitoribosome assembly. 61
32344152 2020
34
De novo variants in SUPT16H cause neurodevelopmental disorders associated with corpus callosum abnormalities. 61
31924697 2020
35
Sacral protuberance with cleft lip and palate: Prenatal presentation of 3MC syndrome. 61
32441374 2020
36
Unplanned Readmissions of Children With Epilepsy in the United States. 61
32299746 2020
37
Clinical findings of 21 previously unreported probands with HNRNPU-related syndrome and comprehensive literature review. 61
32319732 2020
38
Genetic Causes of Severe Childhood Obesity: A Remarkably High Prevalence in an Inbred Population of Pakistan. 61
32349990 2020
39
Further delineation of the female phenotype with KDM5C disease causing variants: 19 new individuals and review of the literature. 61
32279304 2020
40
Developmental and epileptic encephalopathy due to SZT2 genomic variants: Emerging features of a syndromic condition. 61
32402703 2020
41
The association between challenging behaviour and symptoms of post-traumatic stress disorder in people with intellectual disabilities: a Bayesian mediation analysis approach. 61
32378249 2020
42
HNRNPH1-related syndromic intellectual disability: Seven additional cases suggestive of a distinct syndromic neurodevelopmental syndrome. 61
32335897 2020
43
Functional analysis of thirty-four suspected pathogenic missense variants in ALDH5A1 gene associated with succinic semialdehyde dehydrogenase deficiency. 61
32402538 2020
44
Impact of childhood Dravet syndrome on care givers of patients with DS, a major impact on mothers. 61
32375095 2020
45
4H leukodystrophy caused by a homozygous POLR3B mutation: Further delineation of the phenotype. 61
32319736 2020
46
A novel patient with White-Sutton syndrome refines the mutational and clinical repertoire of the POGZ-related phenotype and suggests further observations. 61
32359026 2020
47
Haploinsufficiency of X-linked intellectual disability gene CASK induces post-transcriptional changes in synaptic and cellular metabolic pathways. 61
32305418 2020
48
Diagnostic and therapeutic aspects of hemiplegic migraine. 61
32430436 2020
49
Repeating or spacing learning sessions are strategies for memory improvement with shared molecular and neuronal components. 61
32360730 2020
50
Neonatal therapy with clenbuterol and salmeterol restores spinogenesis and dendritic complexity in the dentate gyrus of the Ts65Dn model of Down syndrome. 61
32325119 2020

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 569) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DHX30 NM_138615.3(DHX30):c.1685A>G (p.His562Arg)SNV Pathogenic 402130 rs1060499733 3:47888247-47888247 3:47846757-47846757
2 CAMK2A NM_015981.4(CAMK2A):c.1237+1G>ASNV Pathogenic 430919 rs113331868 5:149607754-149607754 5:150228191-150228191
3 CAMK2A NM_015981.4(CAMK2A):c.856A>C (p.Thr286Pro)SNV Pathogenic 430918 rs1554121872 5:149629833-149629833 5:150250270-150250270
4 CAMK2A NM_015981.4(CAMK2A):c.845A>G (p.His282Arg)SNV Pathogenic 430917 rs1554121875 5:149629844-149629844 5:150250281-150250281
5 CAMK2A NM_015981.4(CAMK2A):c.635C>T (p.Pro212Leu)SNV Pathogenic 430916 rs926027867 5:149631371-149631371 5:150251808-150251808
6 CAMK2A NM_015981.4(CAMK2A):c.548A>T (p.Glu183Val)SNV Pathogenic 430914 rs1554122129 5:149631595-149631595 5:150252032-150252032
7 CAMK2A NM_015981.4(CAMK2A):c.327G>C (p.Glu109Asp)SNV Pathogenic 430913 rs1287121256 5:149636340-149636340 5:150256777-150256777
8 CAMK2A NM_015981.4(CAMK2A):c.293T>C (p.Phe98Ser)SNV Pathogenic 430912 rs1554122526 5:149636374-149636374 5:150256811-150256811
9 CAMK2B NM_001220.5(CAMK2B):c.328G>A (p.Glu110Lys)SNV Pathogenic 430921 rs1554402092 7:44294154-44294154 7:44254555-44254555
10 CAMK2B NM_001220.5(CAMK2B):c.85C>T (p.Arg29Ter)SNV Pathogenic 430920 rs1554434435 7:44323805-44323805 7:44284206-44284206
11 BPTF NM_182641.4(BPTF):c.989del (p.Leu330fs)deletion Pathogenic 431072 rs1135401778 17:65850431-65850431 17:67854315-67854315
12 ZNF292 NM_015021.3(ZNF292):c.3066_3069del (p.Glu1022fs)deletion Pathogenic 431106 rs1135401779 6:87966410-87966413 6:87256692-87256695
13 CAMK2B NM_001220.5(CAMK2B):c.903+1G>ASNV Pathogenic 430926 rs1554385102 7:44281298-44281298 7:44241699-44241699
14 CAMK2B NM_001220.5(CAMK2B):c.820-1G>ASNV Pathogenic 430924 rs1554385305 7:44281383-44281383 7:44241784-44241784
15 CAMK2B NM_001220.5(CAMK2B):c.709G>A (p.Glu237Lys)SNV Pathogenic 430923 rs1554386687 7:44281927-44281927 7:44242328-44242328
16 PURA NM_005859.5(PURA):c.159dup (p.Leu54fs)duplication Pathogenic 432233 rs1554129040 5:139493919-139493920 5:140114334-140114335
17 PPP3CA NM_000944.5(PPP3CA):c.275A>G (p.His92Arg)SNV Pathogenic 441272 rs1553925558 4:102030220-102030220 4:101109063-101109063
18 GMPPA NM_013335.4(GMPPA):c.853+1G>ASNV Pathogenic 446258 rs1553624347 2:220370278-220370278 2:219505556-219505556
19 SATB2 NM_001172509.2(SATB2):c.1375C>T (p.Arg459Ter)SNV Pathogenic 522269 rs1553547838 2:200193432-200193432 2:199328709-199328709
20 subset of 24 genes: MAGEL2 , SNURF , UBE3A GRCh37/hg19 15q11.2-13.1(chr15:23810397-29213787)copy number gain Pathogenic 523251 15:23810397-29213787
21 subset of 77 genes: IRF6 GRCh37/hg19 1q32.1-32.3(chr1:204682513-212815646)copy number loss Pathogenic 523270 1:204682513-212815646
22 subset of 13 genes: CSMD1 GRCh37/hg19 8p23.3-23.1(chr8:191530-6644251)copy number loss Pathogenic 523289 8:191530-6644251
23 covers 88 genes, none of which curated to show dosage sensitivity GRCh37/hg19 8q24.3(chr8:142840194-146280020)copy number gain Pathogenic 523293 8:142840194-146280020
24 subset of 21 genes: AVPR2 , FLNA , GDI1 , L1CAM , MECP2 GRCh37/hg19 Xq28(chrX:153138672-153665655)copy number gain Pathogenic 523295 X:153138672-153665655
25 SCAPER NM_020843.4(SCAPER):c.2806del (p.Thr935_Leu936insTer)deletion Pathogenic 548448 rs1567499068 15:76866531-76866531 15:76574190-76574190
26 NGLY1 NM_018297.4(NGLY1):c.1533_1536del (p.Asn511fs)deletion Pathogenic 548658 rs765211108 3:25770699-25770702 3:25729208-25729211
27 CHD3 NM_001005273.2(CHD3):c.2745G>T (p.Leu915Phe)SNV Pathogenic 549730 rs1567855669 17:7803670-7803670 17:7900352-7900352
28 CHD3 NM_001005273.2(CHD3):c.2954G>A (p.Arg985Gln)SNV Pathogenic 549733 rs1567856331 17:7804025-7804025 17:7900707-7900707
29 CHD3 NM_001005273.2(CHD3):c.3362G>C (p.Arg1121Pro)SNV Pathogenic 549736 rs1567860112 17:7806037-7806037 17:7902719-7902719
30 CHD3 NM_001005273.2(CHD3):c.3472T>C (p.Trp1158Arg)SNV Pathogenic 549738 rs1567860891 17:7806356-7806356 17:7903038-7903038
31 CHD3 NM_001005273.2(CHD3):c.3505C>T (p.Arg1169Trp)SNV Pathogenic 549741 rs1567861468 17:7806599-7806599 17:7903281-7903281
32 CHD3 NM_001005273.2(CHD3):c.3515G>A (p.Arg1172Gln)SNV Pathogenic 549743 rs1567861501 17:7806609-7806609 17:7903291-7903291
33 NFIB NM_001190737.2(NFIB):c.109C>T (p.Arg37Ter)SNV Pathogenic 560024 rs1554709792 9:14307441-14307441 9:14307442-14307442
34 NFIB NM_001190737.2(NFIB):c.341A>C (p.Lys114Thr)SNV Pathogenic 560025 rs1554709683 9:14307209-14307209 9:14307210-14307210
35 NFIB NM_001190737.2(NFIB):c.758_759dup (p.Asn254Ter)duplication Pathogenic 560028 rs1554649366 9:14150190-14150191 9:14150191-14150192
36 NFIB NM_001190737.2(NFIB):c.1063_1076del (p.Ile355fs)deletion Pathogenic 560029 rs1554639173 9:14120608-14120621 9:14120609-14120622
37 KCNK4 NM_033310.3(KCNK4):c.515C>A (p.Ala172Glu)SNV Pathogenic 560221 rs1565369746 11:64064979-64064979 11:64297507-64297507
38 KCNK4 NM_033310.3(KCNK4):c.730G>C (p.Ala244Pro)SNV Pathogenic 560222 rs1189909394 11:64065650-64065650 11:64298178-64298178
39 KMT2A NM_005933.4(KMT2A):c.766dup (p.Ile256fs)duplication Pathogenic 560380 rs1565278132 11:118342633-118342634 11:118471918-118471919
40 KMT2C NM_170606.3(KMT2C):c.560C>G (p.Ser187Ter)SNV Pathogenic 561045 rs1563831738 7:152012253-152012253 7:152315168-152315168
41 WASF1 NM_003931.3(WASF1):c.1558C>T (p.Gln520Ter)SNV Pathogenic 561981 rs1562159088 6:110421847-110421847 6:110100644-110100644
42 WASF1 NM_003931.3(WASF1):c.1516C>T (p.Arg506Ter)SNV Pathogenic 561980 rs1562159562 6:110422797-110422797 6:110101594-110101594
43 WASF1 NM_003931.3(WASF1):c.1482delinsGCCAGG (p.Ile494fs)indel Pathogenic 561982 rs1562159599 6:110422831-110422831 6:110101628-110101628
44 NFIB GRCh38/hg38 9p23-22.3(chr9:14098660-14324148)x1copy number loss Pathogenic 562125 9:14098659-14324147 9:14098660-14324148
45 NFIB GRCh38/hg38 9p23-22.3(chr9:14102176-14386039)x1copy number loss Pathogenic 562126 9:14102175-14386038 9:14102176-14386039
46 NFIB GRCh38/hg38 9p23-22.3(chr9:13974416-14286260)x1copy number loss Pathogenic 562127 9:13974415-14286259 9:13974416-14286260
47 MPDZ , NFIB , ZDHHC21 GRCh37/hg19 9p23-22.3(chr9:13106806-14639971)x1copy number loss Pathogenic 562128 9:13106806-14639971
48 MPDZ , NFIB , ZDHHC21 GRCh37/hg19 9p23-22.3(chr9:13034407-14653394)x1copy number loss Pathogenic 562129 9:13034407-14653394
49 BNC2 , CCDC171 , CER1 , FREM1 , NFIB , PSIP1 , SNAPC3 , TTC39B , ZDHHC21 GRCh37/hg19 9p23-22.2(chr9:14178768-16619009)x1copy number loss Pathogenic 562130 9:14178768-16619009
50 covers 12 genes, none of which curated to show dosage sensitivity GRCh37/hg19 9p23-22.2(chr9:13563537-18491752)x1copy number loss Pathogenic 562131 9:13563537-18491752

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
11.23 CAMK2B CAMK2A CACNA1A ATP2B3
4 11.09 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 calmodulin-dependent protein kinase activity GO:0004683 8.62 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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