AAMR
MCID: ALC028
MIFTS: 57

Alacrima, Achalasia, and Mental Retardation Syndrome (AAMR)

Categories: Genetic diseases, Metabolic diseases
Data Licensing
For inquiries, contact:

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 11 38 71
Alacrima, Achalasia, and Intellectual Disability Syndrome 73 28 5
Aamr 57 11 73
Alacrima, Achalasia, and Impaired Intellectual Development Syndrome 11 14
Intellectual Disability 71 75

Characteristics:


Inheritance:

Autosomal recessive 57

OMIM®:

57 (Updated 24-Oct-2022)
Miscellaneous:
onset at birth or in infancy


Classifications:



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) (Updated 24-Oct-2022)

MalaCards based summary: Alacrima, Achalasia, and Mental Retardation Syndrome, also known as alacrima, achalasia, and intellectual disability syndrome, is related to walker-warburg syndrome and kohlschutter-tonz syndrome, 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). The drugs Nitrazepam and Ethosuximide have been mentioned in the context of this disorder. Affiliated tissues include brain, bone marrow and bone, and related phenotypes are intellectual disability and spasticity

UniProtKB/Swiss-Prot: 73 An autosomal recessive disorder characterized by onset of alacrima, achalasia, and intellectual disability 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.

Disease Ontology: 11 A congenital disorder of glycosylation characterized by onset in infancy of alacrima, achalasia, and impaired intellectual development without adrenal insufficiency that has material basis in homozygous or compound heterozygous mutation in GMPPA on chromosome 2q35.

Wikipedia: 75 Intellectual disability (ID), also known as general learning disability in the United Kingdom and... more...

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 3093)
# Related Disease Score Top Affiliating Genes
1 walker-warburg syndrome 31.2 LAMC3 GMPPB GMPPA
2 kohlschutter-tonz syndrome 31.2 SLC13A5 ROGDI
3 developmental and epileptic encephalopathy 25 30.7 SLC13A5 ROGDI
4 early infantile epileptic encephalopathy 29.4 SLC13A5 ROGDI BRAT1
5 alpha thalassemia-x-linked intellectual disability syndrome 11.7
6 deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome 11.7
7 pettigrew syndrome 11.7
8 kaufman oculocerebrofacial syndrome 11.7
9 filippi syndrome 11.6
10 x-linked intellectual disability-psychosis-macroorchidism syndrome 11.6
11 masa syndrome 11.6
12 renpenning syndrome 1 11.6
13 intellectual disability-severe speech delay-mild dysmorphism syndrome 11.6
14 hivep2-related intellectual disability 11.6
15 severe intellectual disability-progressive spastic diplegia syndrome 11.6
16 mowat-wilson syndrome 11.6
17 intellectual developmental disorder, x-linked, syndromic, wilson-turner type 11.6
18 christianson syndrome 11.6
19 martin-probst syndrome 11.6
20 smith-kingsmore syndrome 11.6
21 ohdo syndrome 11.6
22 waisman syndrome 11.6
23 coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation 11.6
24 schuurs-hoeijmakers syndrome 11.6
25 syndromic x-linked intellectual disability snyder type 11.6
26 intellectual developmental disorder, x-linked, syndromic, siderius type 11.6
27 intellectual developmental disorder, x-linked, syndromic, cabezas type 11.6
28 syngap1-related intellectual disability 11.6
29 intellectual developmental disorder, x-linked 109 11.6
30 intellectual developmental disorder, autosomal dominant 5 11.6
31 ohdo syndrome, sbbys variant 11.5
32 aldred syndrome 11.5
33 syndromic x-linked intellectual disability 34 11.5
34 intellectual disability-hypotonic facies syndrome, x-linked, 1 11.5
35 mehmo syndrome 11.5
36 xia-gibbs syndrome 11.5
37 female-restricted syndromic x-linked intellectual disability 99 11.5
38 helsmoortel-van der aa syndrome 11.5
39 muscular dystrophy, congenital, with cataracts and intellectual disability 11.5
40 med13l haploinsufficiency syndrome 11.5
41 woodhouse-sakati syndrome 11.5
42 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 11.5
43 x-linked intellectual disability-cardiomegaly-congestive heart failure syndrome 11.5
44 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 11.5
45 corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome 11.5
46 tranebjaerg svejgaard syndrome 11.5
47 mental retardation with optic atrophy, deafness, and seizures 11.5
48 intellectual disability-spasticity-ectrodactyly syndrome 11.5
49 intellectual developmental disorder, x-linked, syndromic, turner type 11.5
50 syndromic x-linked intellectual disability 7 11.5

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:

30 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 30 Very rare (1%) HP:0001249
2 spasticity 30 Very rare (1%) HP:0001257
3 hyperreflexia 30 Very rare (1%) HP:0001347
4 ptosis 30 Very rare (1%) HP:0000508
5 ataxia 30 Very rare (1%) HP:0001251
6 dysphagia 30 Very rare (1%) HP:0002015
7 hearing impairment 30 Very rare (1%) HP:0000365
8 global developmental delay 30 Very rare (1%) HP:0001263
9 delayed speech and language development 30 Very rare (1%) HP:0000750
10 hyperkeratosis 30 Very rare (1%) HP:0000962
11 hypohidrosis 30 Very rare (1%) HP:0000966
12 neonatal respiratory distress 30 Very rare (1%) HP:0002643
13 achalasia 30 Very rare (1%) HP:0002571
14 downturned corners of mouth 30 Very rare (1%) HP:0002714
15 short philtrum 30 Very rare (1%) HP:0000322
16 nasal speech 30 Very rare (1%) HP:0001611
17 high anterior hairline 30 Very rare (1%) HP:0009890
18 triangular face 30 Very rare (1%) HP:0000325
19 feeding difficulties 30 Very rare (1%) HP:0011968
20 esophageal stenosis 30 Very rare (1%) HP:0010450
21 alacrima 30 Very rare (1%) HP:0000522
22 orthostatic hypotension 30 Very rare (1%) HP:0001278
23 prominent nose 30 Very rare (1%) HP:0000448
24 generalized hypotonia 30 Very rare (1%) HP:0001290
25 horizontal nystagmus 30 Very rare (1%) HP:0000666
26 exodeviation 30 Very rare (1%) HP:0020049
27 anisocoria 30 Very rare (1%) HP:0009916
28 somatic sensory dysfunction 30 Very rare (1%) HP:0003474

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
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
achalasia
feeding difficulties

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 (Updated 24-Oct-2022)

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


lethargy; neurobehavioral manifestations

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 131)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Nitrazepam Approved Phase 4 146-22-5 4506
2
Ethosuximide Approved Phase 4 77-67-8 3291
3
Pregabalin Approved, Investigational Phase 4 148553-50-8 5486971
4
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
5
Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
6
Gabapentin Approved, Investigational Phase 4 60142-96-3 3446
7
Prednisolone Approved, Vet_approved Phase 4 50-24-8 4894 5755
8
Clobazam Approved, Illicit Phase 4 22316-47-8 2789
9
Acetazolamide Approved, Vet_approved Phase 4 59-66-5, 1424-27-7 1986
10
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5 1875
11
Carbamazepine Approved, Investigational Phase 4 298-46-4 2554
12
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 4159 6741
13
Levetiracetam Approved Phase 4 102767-28-2 441341 5284583
14
Lamotrigine Approved, Investigational Phase 4 84057-84-1 3878
15
Topiramate Approved Phase 4 97240-79-4 5284627
16
Tiagabine Approved, Investigational Phase 4 115103-54-3 60648
17
Felbamate Approved Phase 4 25451-15-4 3331
18
Clonazepam Approved, Illicit Phase 4 1622-61-3 2802
19
Rufinamide Approved Phase 4 106308-44-5 129228
20
Oxcarbazepine Approved Phase 4 28721-07-5 34312
21
Vigabatrin Approved Phase 4 60643-86-9, 68506-86-5 5665
22
Phenytoin Approved, Vet_approved Phase 4 57-41-0 1775
23
Phenobarbital Approved, Investigational Phase 4 50-06-6 4763
24
Valproic acid Approved, Investigational Phase 4 99-66-1 3121
25
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7 4897
26
Methylprednisolone Acetate Phase 4 584547
27 Anticonvulsants Phase 4
28
Crofelemer Approved Phase 3 33507-63-0, 148465-45-6 36511 44359816
29
Naltrexone Approved, Investigational, Vet_approved Phase 3 16590-41-3 5360515
30
Hydrocortisone Approved, Vet_approved Phase 3 50-23-7 3640 5754
31
Hydrocortisone succinate Approved Phase 3 2203-97-6 3643
32
Hydrocortisone acetate Approved, Vet_approved Phase 3 50-03-3
33
Glycopyrronium Approved, Investigational, Vet_approved Phase 3 596-51-0, 740028-90-4 3494
34
Acetylcholine Approved, Investigational Phase 3 51-84-3 187
35 Narcotics Phase 3
36 Narcotic Antagonists Phase 3
37 Enkephalins Phase 3
38 Enkephalin, Methionine Phase 3
39 Hydrocortisone 17-butyrate 21-propionate Phase 3
40
Neurokinin A Phase 3 86933-74-6 55582
41 Anesthetics Phase 3
42 Muscarinic Antagonists Phase 3
43 Cholinergic Antagonists Phase 3
44 Cholinergic Agents Phase 3
45
abobotulinumtoxinA Phase 3
46 Botulinum Toxins, Type A Phase 3
47 Botulinum Toxins Phase 3
48
incobotulinumtoxinA Phase 3
49
Esomeprazole Approved, Investigational, Vet_approved Phase 2 73590-58-6, 119141-88-7 9568614 4594
50
Memantine Approved, Investigational Phase 2 41100-52-1, 19982-08-2 4054

Interventional clinical trials:

(show top 50) (show all 205)
# 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 Use of Sustained Release Antiepileptic Medication (Depakote® ER) for Pediatric Epilepsy in a Mental Retardation/Developmental Disorder Population Completed NCT00207935 Phase 4
3 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
4 Behavioral and Biochemical Mechanisms of Self-Injury Unknown status NCT00065936 Phase 3 Naltrexone hydrochloride
5 Stereotypies and Mental Retardation: Neurobiological Basis Unknown status NCT00491478 Phase 3 sertraline
6 A Double-Blind, Placebo-Controlled Trial of Metformin in Individuals With Fragile X Syndrome Completed NCT03479476 Phase 2, Phase 3 Placebo Medication;Metformin
7 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
8 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
9 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 NT 201 Placebo;NT 201
10 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
11 Effects of Social Gaze Training on Brain and Behavior in Fragile X Syndrome Unknown status NCT02616796 Phase 1, Phase 2
12 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
13 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
14 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 Completed NCT02304302 Phase 2 Memantine;Placebo
15 A Randomized Placebo-controlled Trial of Cannabidiol to Treat Severe Behavioral Problems in Children and Adolescents With Intellectual Disability Recruiting NCT04821856 Phase 2 Cannabidiol Oil;Placebo
16 A Double-Blind, Placebo-Controlled Trial of Metformin in Individuals With Fragile X Syndrome (FXS) Recruiting NCT03862950 Phase 2 Placebo Medication;Metformin
17 A Randomized, Multicenter Clinical Trial to Assess the Efficacy and Safety of Clozapine vs Treatment as Usual for Treatment-resistant Psychosis in Adolescents and Young Adults With Intellectual Disability. Recruiting NCT04529226 Phase 2 Clozapine;haloperidol, pimozide, olanzapine, risperidone, amisulpride
18 Microbiota Transfer Therapy for Children With Both Pitt Hopkins Syndrome and Gastrointestinal Disorders Active, not recruiting NCT04132427 Phase 2
19 An Open-Label Study of the Safety, Tolerability, and Pharmacokinetics of Oral NNZ-2591 in Pitt Hopkins Syndrome (PTHS-001) Not yet recruiting NCT05025332 Phase 2 NNZ-2591
20 Phase II Study of Stereotypes and Mental Retardation: Neurobiological Basis Suspended NCT00004300 Phase 2 bromocriptine;sertraline hydrochloride
21 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
22 Phase I Pre-pilot Open-label Clinical Trial of Nabilone for Severe Behavioural Problems (Aggression) in Adults With Intellectual and Developmental Disabilities Recruiting NCT05273320 Phase 1 Nabilone
23 Sensitivity of the NIH Toolbox Cognition Battery to Stimulant Treatment in Intellectual Disabilities Not yet recruiting NCT05301361 Phase 1 Methylphenidate Oral Solution
24 Cross-Species Multi-Modal Neuroimaging to Investigate GABA Physiology in Fragile X Syndrome Terminated NCT04308954 Phase 1 [18F]flumazenil
25 Stem Cell Therapy in Mental Retardation Withdrawn NCT02245724 Phase 1
26 DDX3X Related Disorder : Clinical Phenotype, Neuropsychological Profile and Epigenetic Signature. Unknown status NCT04436588
27 Evaluation of Tools for the Simultaneous Detection of Point and Structural Mutations in Patients With Intellectual Disability Unknown status NCT02881333
28 Second Molecular Event Identification by Exome Sequencing for Intellectually Disabled Patients Carrying 16p13.11 CNVs Unknown status NCT03644797
29 Augmentative and Alternative Communication in Games With Virtual Reality in Intellectual Disabilities Unknown status NCT03033797
30 Risk Evaluation of Fetal Nervous System and Neurodevelopment Disorders in Infants of Women Exposed to Zika Virus Infection During Pregnancy Unknown status NCT02943304
31 Investigation of the Effectiveness of Video Based Games on Upper Extremity Functions in Mild Mental Retardation Diagnosed Cases Unknown status NCT03503955
32 A Pattern of Dental Treatment and Oral Rehabilitation for Adult Individuals With Intellectual Disability in General Anaesthesia Unknown status NCT03823976
33 Prevention of Unwanted Pregnancy and a Path to Informed Choice Among Young People With Intellectual Disability- a RCT, Intervention With Conversational Support and Real-Care-Baby Simulator Unknown status NCT03348124
34 Conducting Functional Communication Training (FCT) With Young Children With Intellectual Disabilities in NHS Settings in the UK: A Feasibility Project Unknown status NCT02721394
35 CDK13 Related Disorder : Clinical Phenotype, Neuropsychological Profile, Brain MRI Characteristics and Epigenetic Signature. Unknown status NCT04382573
36 Effects of the Mindfulness-Based Health Promotion Program (MBHP) on the Quality of Life of Family Members of People With Intellectual Disability Unknown status NCT03756441
37 Clinical Phenotyping and Characterization of Neural Networks and Cognitive Processes Involved in Mental Retardation X-linked Unknown status NCT02854956
38 Genetic Disease Gene Identification Unknown status NCT00916903
39 Pain and Emotional Expression in Children With Autism or Mental Retardation Unknown status NCT01043822
40 The Additive Effect of Cognitive Behavioral Treatment - CBT to Conventional Weight Loss Intervention Program for Young Adults With Intellectual Disabilities Unknown status NCT01032369
41 Non Invasive Prenatal Test of Rare Genetic Diseases: Application to Rare Intellectual Disabilities Unknown status NCT03688594
42 Multi-Omics and IPSCs to Improve the Diagnosis of Rare Intellectual Disabilities Unknown status NCT03635294
43 Impact of Coenzyme Q10 and Meclofenoxate on Frequency and Severity of Hepatic Encephalopathy Unknown status NCT03961087 Coenzyme Q10;MECLOFENOXATE
44 Demographic Characteristics of Children Suffering From Mental Retardation or Cerebral Palsy in the Israeli Arab Community Unknown status NCT02214745
45 Expert Guiding Technology to Help Individuals With Developmental Challenges Build Life and Vocational Skills Unknown status NCT04518358
46 Supervised Toothbrushing Programme and Oral Health Education for Intellectual Disabled Students: A Cluster Randomised Controlled Trial Unknown status NCT03234231
47 Clinical Collaborative Research of Whole Genome Sequencing in the Detection of Rare Undiagnosed Genetic Diseases in Children in China Unknown status NCT03424772
48 Evaluating a Picture-based Computerised Assessment and Training Paradigm for Cognitive Behaviour Therapy Skills in Adults With Intellectual Disabilities Unknown status NCT01652963
49 The Associative Memory in Autism Spectrum Disorders Without Intellectual Disability Unknown status NCT02279680
50 Fit Families Program: A Multisite Study Completed NCT05451459

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

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


Buspirone
buspirone hydrochloride

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 Intellectual Disability Syndrome 28 GMPPA

Anatomical Context for Alacrima, Achalasia, and Mental Retardation Syndrome

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

MalaCards : Brain, Bone Marrow, Bone, Prefrontal Cortex, Liver, Cortex, Heart

Publications for Alacrima, Achalasia, and Mental Retardation Syndrome

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

(show top 50) (show all 18426)
# Title Authors PMID Year
1
A Novel GMPPA Mutation in Two Adult Sisters with Achalasia, Alacrima, Short Stature, Dysmorphism, and Intellectual Disability. 62 57 5
29593478 2018
2
Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction. 62 57 5
24035193 2013
3
GMPPA defects cause a neuromuscular disorder with α-dystroglycan hyperglycosylation. 62 57
33755596 2021
4
Brain O-GlcNAcylation: From Molecular Mechanisms to Clinical Phenotype. 62
36255678 2023
5
Mutation in protein disulfide isomerase A3 causes neurodevelopmental defects by disturbing endoplasmic reticulum proteostasis. 62
34904718 2022
6
Management of psychotropic medications in adults with intellectual disability: a scoping review. 62
36120887 2022
7
Effect of exposure to endocrine disrupting chemicals in obesity and neurodevelopment: The genetic and microbiota link. 62
36007653 2022
8
Chr21 protein-protein interactions: enrichment in proteins involved in intellectual disability, autism, and late-onset Alzheimer's disease. 62
35914814 2022
9
Detailed prenatal and postnatal MRI findings and clinical analysis of RAF1 in Noonan syndrome. 62
36155125 2022
10
Delineating the CCDC22-related Ritscher-Schinzel syndrome phenotype in the original family. 62
36073196 2022
11
Expanding the pre- and postnatal phenotype of WASHC5 and CCDC22 -related Ritscher-Schinzel syndromes. 62
36130690 2022
12
Down syndrome and the eye: Ocular characteristics and ocular assessment. 62
35367480 2022
13
Dual Language Learning Predicts Improved Executive Functioning in Youth with Autism. 62
34813032 2022
14
Novel alterations of CC2D1A as a candidate gene in a Turkish sample of patients with autism spectrum disorder. 62
33287601 2022
15
Sleeping Sound Autism Spectrum Disorder (ASD): a randomised controlled trial of a brief behavioural sleep intervention in primary school-aged autistic children. 62
35285017 2022
16
Personal and Family Childhood Predictors of Functional Outcomes of Adolescents With Autism Spectrum Disorder. 62
36268955 2022
17
Autism spectrum disorder during French COVID-19 lockdown: The importance of individualized support. 62
35781823 2022
18
Short Report: Outcomes for siblings associated with sub-groups of autistic children with intellectual disability identified by latent profile analysis. 62
36126532 2022
19
Reelin central fragment supplementation improves cognitive deficits in a mouse model of Fragile X Syndrome. 62
35863501 2022
20
Expanding the genotypic and phenotypic landscapes of rhizomelic chondrodysplasia punctata type 3 (RCDP3) with two novel families, and a review of the literature. 62
35986576 2022
21
PPP2R1A neurodevelopmental disorder is associated with congenital heart defects. 62
36209351 2022
22
HIDEA syndrome is caused by biallelic, pathogenic, rare or founder P4HTM variants impacting the active site or the overall stability of the P4H-TM protein. 62
35908151 2022
23
Multiple types of harassment victimization in adolescents with autism spectrum disorder: Related factors and effects on mental health problems. 62
35346540 2022
24
[Formula: see text]FarmApp: a new assessment of cognitive control and memory for children and young people with neurodevelopmental difficulties. 62
35332845 2022
25
Autism and self-harm: A population-based and discordant sibling study of young individuals. 62
35867636 2022
26
Phenotypic variability in RERE-related disorders and the first report of an inherited variant. 62
36053530 2022
27
Association between early and current gastro-intestinal symptoms and co-morbidities in children and adolescents with Angelman syndrome. 62
36052644 2022
28
Reversal of Clinical Phenotype of Sotos Syndrome Due to Microduplication of NSD1 Gene. 62
35925544 2022
29
Novel Variants of the SMARCA4 Gene Associated with Autistic Features Rather Than Typical Coffin-Siris Syndrome in Eight Chinese Pediatric Patients. 62
34813034 2022
30
Reported clinical incidents of children with intellectual disability: A qualitative analysis. 62
35578400 2022
31
Setting up a new team of support staff for people with mild intellectual disability or borderline intellectual functioning and severe challenging behaviour: A concept mapping study. 62
35789034 2022
32
Risk for intellectual disability populations in inpatient forensic settings in the United Kingdom: A literature review. 62
35995572 2022
33
Characteristics associated with frequent health system use by Australian adults with intellectual disability: A cohort study. 62
36054035 2022
34
The relationship between subjective socioeconomic status and health in adults with and without intellectual disability. 62
36054256 2022
35
Development and validation of a functional screening tool for adults with intellectual disabilities. 62
35606683 2022
36
Relational ethics, informed consent, and informed assent in participatory research with children with complex communication needs. 62
35665498 2022
37
Characteristics of shifting ability in children with mild intellectual disabilities: an experimental study with a task-switching paradigm. 62
36065757 2022
38
An unusual familial Xp22.12 microduplication including EIF1AX: A novel candidate dosage-sensitive gene for premature ovarian insufficiency. 62
36113757 2022
39
Association between suicidal behaviors and auditory and visual hallucinations in Japanese adolescent psychiatric outpatients at first visit: a cross-sectional study. 62
34432369 2022
40
Peripheral immune challenges elicit differential up-regulation of hippocampal cytokine and chemokine mRNA expression in a mouse model of the 15q13.3 microdeletion syndrome. 62
36084604 2022
41
Cardiogenic shock related cardiovascular disease mortality trends in US population: Heart failure vs. acute myocardial infarction as contributing causes. 62
36002041 2022
42
Parents with intellectual disability reporting on factors affecting their caregiving in the wake of the COVID-19 pandemic: A qualitative study. 62
36207144 2022
43
'It's working together with what you've got': Healthcare professionals' experiences of working with people with combined intellectual disability and personality disorder diagnoses. 62
35725900 2022
44
Synthesising existing research on complicated grief in intellectual disability: findings from a systematic review. 62
36042575 2022
45
Rating scales to measure adverse effects of medications in people with intellectual disability: a scoping review. 62
36042024 2022
46
The place of general practitioner in the management of patients with rare disease and intellectual disability: A qualitative study. 62
36055640 2022
47
Relationships and power: An exploration of person-centredness in an intellectual disability service in Ireland. 62
36254810 2022
48
Tackling increased risks in older adults with intellectual disability and epilepsy: Data from a national multicentre cohort study. 62
35850018 2022
49
Correspondence on "Variants in MED12L, encoding a subunit of the mediator kinase module, are responsible for intellectual disability associated with transcriptional defect" by Nizon et al. 62
35920825 2022
50
Assessment of Trabecular Bone Score: a 7-year follow-up study in institutionalized adults with refractory epilepsy and intellectual disability. 62
36270136 2022

Variations for Alacrima, Achalasia, and Mental Retardation Syndrome

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

5 (show top 50) (show all 56)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ASIC4-AS1, GMPPA NM_013335.4(GMPPA):c.295C>T (p.Arg99Ter) SNV Pathogenic
88691 rs397518460 GRCh37: 2:220366625-220366625
GRCh38: 2:219501903-219501903
2 ASIC4-AS1, GMPPA NM_013335.4(GMPPA):c.1000A>C (p.Thr334Pro) SNV Pathogenic
88692 rs397518461 GRCh37: 2:220370982-220370982
GRCh38: 2:219506260-219506260
3 ASIC4-AS1, GMPPA NM_013335.4(GMPPA):c.545G>A (p.Gly182Asp) SNV Pathogenic
88693 rs397518462 GRCh37: 2:220368860-220368860
GRCh38: 2:219504138-219504138
4 ASIC4-AS1, GMPPA NM_013335.4(GMPPA):c.210del (p.Ala71fs) DEL Pathogenic
88694 rs886037654 GRCh37: 2:220366268-220366268
GRCh38: 2:219501546-219501546
5 ASIC4-AS1, GMPPA NM_013335.4(GMPPA):c.642G>A (p.Trp214Ter) SNV Pathogenic
88695 GRCh37: 2:220369971-220369971
GRCh38: 2:219505249-219505249
6 ASIC4-AS1, GMPPA NM_013335.4(GMPPA):c.853+1G>A SNV Pathogenic
446258 rs1553624347 GRCh37: 2:220370278-220370278
GRCh38: 2:219505556-219505556
7 ASIC4-AS1, GMPPA NM_013335.4(GMPPA):c.1096C>T (p.Arg366Ter) SNV Pathogenic
1236197 GRCh37: 2:220371078-220371078
GRCh38: 2:219506356-219506356
8 ASIC4-AS1, GMPPA NM_013335.4(GMPPA):c.1118G>C (p.Ser373Thr) SNV Pathogenic
1338753 GRCh37: 2:220371100-220371100
GRCh38: 2:219506378-219506378
9 ASIC4-AS1, GMPPA NM_013335.4(GMPPA):c.382G>T (p.Glu128Ter) SNV Likely Pathogenic
1324485 GRCh37: 2:220366712-220366712
GRCh38: 2:219501990-219501990
10 ASIC4-AS1, GMPPA NM_013335.4(GMPPA):c.583C>T (p.Arg195Trp) SNV Uncertain Significance
969055 rs147832114 GRCh37: 2:220368898-220368898
GRCh38: 2:219504176-219504176
11 ASIC4-AS1, GMPPA NM_013335.4(GMPPA):c.799G>A (p.Asp267Asn) SNV Uncertain Significance
1007274 rs1382726525 GRCh37: 2:220370223-220370223
GRCh38: 2:219505501-219505501
12 ASIC4-AS1, GMPPA NM_013335.4(GMPPA):c.1150A>G (p.Ile384Val) SNV Uncertain Significance
1024634 rs370710427 GRCh37: 2:220371132-220371132
GRCh38: 2:219506410-219506410
13 ASIC4-AS1, GMPPA NM_013335.4(GMPPA):c.466G>A (p.Val156Ile) SNV Uncertain Significance
1043141 rs138077680 GRCh37: 2:220367140-220367140
GRCh38: 2:219502418-219502418
14 ASIC4-AS1, GMPPA NM_013335.4(GMPPA):c.250C>A (p.Gln84Lys) SNV Uncertain Significance
1379954 GRCh37: 2:220366580-220366580
GRCh38: 2:219501858-219501858
15 overlap with 52 genes NC_000002.11:g.(?_218999525)_(220435954_?)dup DUP Uncertain Significance
1434778 GRCh37: 2:218999525-220435954
GRCh38:
16 ASIC4-AS1, GMPPA NM_013335.4(GMPPA):c.280G>T (p.Gly94Cys) SNV Uncertain Significance
1488940 GRCh37: 2:220366610-220366610
GRCh38: 2:219501888-219501888
17 ASIC4-AS1, GMPPA NM_013335.4(GMPPA):c.877G>A (p.Ala293Thr) SNV Uncertain Significance
1511740 GRCh37: 2:220370460-220370460
GRCh38: 2:219505738-219505738
18 ASIC4-AS1, GMPPA NM_013335.4(GMPPA):c.958C>T (p.Arg320Trp) SNV Uncertain Significance
960828 rs549821547 GRCh37: 2:220370759-220370759
GRCh38: 2:219506037-219506037
19 ASIC4-AS1, GMPPA NM_013335.4(GMPPA):c.592T>C (p.Phe198Leu) SNV Uncertain Significance
474674 rs773715630 GRCh37: 2:220368907-220368907
GRCh38: 2:219504185-219504185
20 ASIC4-AS1, GMPPA NM_013335.4(GMPPA):c.108G>C (p.Met36Ile) SNV Uncertain Significance
583244 rs745438072 GRCh37: 2:220364910-220364910
GRCh38: 2:219500188-219500188
21 ASIC4-AS1, GMPPA NM_013335.4(GMPPA):c.1052C>T (p.Ala351Val) SNV Uncertain Significance
1430131 GRCh37: 2:220371034-220371034
GRCh38: 2:219506312-219506312
22 ASIC4-AS1, GMPPA NM_013335.4(GMPPA):c.535A>T (p.Ile179Phe) SNV Uncertain Significance
1442753 GRCh37: 2:220368850-220368850
GRCh38: 2:219504128-219504128
23 ASIC4-AS1, GMPPA NM_013335.4(GMPPA):c.12G>A (p.Ala4=) SNV Uncertain Significance
1506317 GRCh37: 2:220364709-220364709
GRCh38: 2:219499987-219499987
24 ASIC4-AS1, GMPPA NM_013335.4(GMPPA):c.439A>G (p.Thr147Ala) SNV Uncertain Significance
851891 rs1186293652 GRCh37: 2:220367113-220367113
GRCh38: 2:219502391-219502391
25 ASIC4-AS1, GMPPA NM_013335.4(GMPPA):c.1046G>A (p.Arg349His) SNV Uncertain Significance
864741 rs568570865 GRCh37: 2:220371028-220371028
GRCh38: 2:219506306-219506306
26 ASIC4-AS1, GMPPA NM_013335.4(GMPPA):c.486C>G (p.His162Gln) SNV Likely Benign
287078 rs36029384 GRCh37: 2:220367160-220367160
GRCh38: 2:219502438-219502438
27 ASIC4-AS1, GMPPA NM_013335.4(GMPPA):c.490-16C>A SNV Likely Benign
1612001 GRCh37: 2:220368789-220368789
GRCh38: 2:219504067-219504067
28 ASIC4-AS1, GMPPA NM_013335.4(GMPPA):c.756-18C>A SNV Likely Benign
1670203 GRCh37: 2:220370162-220370162
GRCh38: 2:219505440-219505440
29 ASIC4-AS1, GMPPA NM_013335.4(GMPPA):c.756-10C>T SNV Likely Benign
384226 rs368738474 GRCh37: 2:220370170-220370170
GRCh38: 2:219505448-219505448
30 ASIC4-AS1, GMPPA NM_013335.4(GMPPA):c.40+13G>A SNV Likely Benign
389994 rs199872147 GRCh37: 2:220364750-220364750
GRCh38: 2:219500028-219500028
31 ASIC4-AS1, GMPPA NM_013335.4(GMPPA):c.783C>T (p.Tyr261=) SNV Likely Benign
1574900 GRCh37: 2:220370207-220370207
GRCh38: 2:219505485-219505485
32 ASIC4-AS1, GMPPA NM_013335.4(GMPPA):c.486C>T (p.His162=) SNV Likely Benign
1640660 GRCh37: 2:220367160-220367160
GRCh38: 2:219502438-219502438
33 ASIC4-AS1, GMPPA NM_013335.4(GMPPA):c.336G>A (p.Val112=) SNV Likely Benign
1604173 GRCh37: 2:220366666-220366666
GRCh38: 2:219501944-219501944
34 ASIC4-AS1, GMPPA NM_013335.4(GMPPA):c.858T>C (p.Asn286=) SNV Likely Benign
385576 rs145760617 GRCh37: 2:220370441-220370441
GRCh38: 2:219505719-219505719
35 ASIC4-AS1, GMPPA NM_013335.4(GMPPA):c.138+9_138+10del DEL Likely Benign
758519 rs757832477 GRCh37: 2:220364949-220364950
GRCh38: 2:219500227-219500228
36 ASIC4-AS1, GMPPA NM_013335.4(GMPPA):c.750C>T (p.Ser250=) SNV Likely Benign
389477 rs367640773 GRCh37: 2:220370079-220370079
GRCh38: 2:219505357-219505357
37 ASIC4-AS1, GMPPA NM_013335.4(GMPPA):c.516C>T (p.Ser172=) SNV Likely Benign
1126938 GRCh37: 2:220368831-220368831
GRCh38: 2:219504109-219504109
38 ASIC4-AS1, GMPPA NM_013335.4(GMPPA):c.864C>T (p.Tyr288=) SNV Likely Benign
1140324 GRCh37: 2:220370447-220370447
GRCh38: 2:219505725-219505725
39 ASIC4-AS1, GMPPA NM_013335.4(GMPPA):c.1137G>T (p.Lys379Asn) SNV Likely Benign
798216 rs188765261 GRCh37: 2:220371119-220371119
GRCh38: 2:219506397-219506397
40 ASIC4-AS1, GMPPA NM_013335.4(GMPPA):c.571T>C (p.Leu191=) SNV Likely Benign
779321 rs560095573 GRCh37: 2:220368886-220368886
GRCh38: 2:219504164-219504164
41 ASIC4-AS1, GMPPA NM_013335.4(GMPPA):c.214G>A (p.Ala72Thr) SNV Likely Benign
786493 rs112693024 GRCh37: 2:220366273-220366273
GRCh38: 2:219501551-219501551
42 ASIC4-AS1, GMPPA NM_013335.4(GMPPA):c.345T>C (p.Ala115=) SNV Likely Benign
382996 rs761791232 GRCh37: 2:220366675-220366675
GRCh38: 2:219501953-219501953
43 ASIC4-AS1, GMPPA NM_013335.4(GMPPA):c.66T>C (p.Phe22=) SNV Likely Benign
745193 rs1575219520 GRCh37: 2:220364868-220364868
GRCh38: 2:219500146-219500146
44 ASIC4-AS1, GMPPA NM_013335.4(GMPPA):c.447C>T (p.Ser149=) SNV Likely Benign
747683 rs749971952 GRCh37: 2:220367121-220367121
GRCh38: 2:219502399-219502399
45 ASIC4-AS1, GMPPA NM_013335.4(GMPPA):c.495G>A (p.Leu165=) SNV Benign
755531 rs181901772 GRCh37: 2:220368810-220368810
GRCh38: 2:219504088-219504088
46 ASIC4-AS1, GMPPA NM_013335.4(GMPPA):c.441G>A (p.Thr147=) SNV Benign
380455 rs150386940 GRCh37: 2:220367115-220367115
GRCh38: 2:219502393-219502393
47 ASIC4-AS1, GMPPA NM_013335.4(GMPPA):c.213C>T (p.Ala71=) SNV Benign
382083 rs41272703 GRCh37: 2:220366272-220366272
GRCh38: 2:219501550-219501550
48 ASIC4-AS1, GMPPA NM_013335.4(GMPPA):c.1162+18C>T SNV Benign
380525 rs111553864 GRCh37: 2:220371162-220371162
GRCh38: 2:219506440-219506440
49 ASIC4-AS1, GMPPA NM_013335.4(GMPPA):c.945G>A (p.Glu315=) SNV Benign
380091 rs13428617 GRCh37: 2:220370746-220370746
GRCh38: 2:219506024-219506024
50 ASIC4-AS1, GMPPA NM_013335.4(GMPPA):c.1053C>G (p.Ala351=) SNV Benign
380034 rs1046474 GRCh37: 2:220371035-220371035
GRCh38: 2:219506313-219506313

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 rs1467274040
5 GMPPA p.Asn401Thr VAR_070207

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

6 (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 TCEANC2 Intellectual disability
12 35404 1 63278601 174979260 Duplication Intellectual disability
13 35871 1 68336738 68470841 Amplification WLS 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 NTM 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

GO Terms for Alacrima, Achalasia, and Mental Retardation Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 biosynthetic process GO:0009058 9.13 GMPPB GMPPA
2 circulatory system development GO:0072359 8.8 NXN APOE

Sources for Alacrima, Achalasia, and Mental Retardation Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....