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AAMR
MCID: ALC028
MIFTS: 68

Alacrima, Achalasia, and Mental Retardation Syndrome (AAMR)

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

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

Name: Alacrima, Achalasia, and Mental Retardation Syndrome 57 72 29 6 39 70
Intellectual Disability 44 39 70
Aamr 57 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth or in infancy


HPO:

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


Classifications:

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


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Summaries for Alacrima, Achalasia, and Mental Retardation Syndrome

About this section
OMIM® : 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 05-Apr-2021)

MalaCards based summary : Alacrima, Achalasia, and Mental Retardation Syndrome, also known as intellectual disability, is related to autosomal dominant non-syndromic intellectual disability and microcephaly, 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 HIF-1 signaling pathway and Glucagon signaling pathway. The drugs Zonisamide and Rufinamide have been mentioned in the context of this disorder. Affiliated tissues include brain, cortex and eye, and related phenotypes are nystagmus and gait disturbance

UniProtKB/Swiss-Prot : 72 Alacrima, achalasia, and mental retardation syndrome: An autosomal recessive disorder characterized by onset of alacrima, achalasia, and mental retardation at birth or in early infancy. More variable features include hypotonia, gait abnormalities, anisocoria, and visual or hearing deficits. The disorder shows similarity to the triple A syndrome, but patients with AAMR do not have adrenal insufficiency.

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Related Diseases for Alacrima, Achalasia, and Mental Retardation Syndrome

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

(show top 50) (show all 2409)
# Related Disease Score Top Affiliating Genes
1 autosomal dominant non-syndromic intellectual disability 33.6 DYNC1H1 CREBBP CAMK2B CAMK2A AUTS2 ARID1B
2 microcephaly 33.4 DYNC1H1 DHX30 DDX3X CREBBP CAMK2B BPTF
3 disease of mental health 33.2 DYNC1H1 DUSP29 DHX30 DDX3X CUL4B CREBBP
4 non-syndromic intellectual disability 33.2 ARX ARID1B AHDC1
5 autism 33.1 DYNC1H1 DHX30 CREBBP CAMK2B CAMK2A BPTF
6 autism spectrum disorder 33.0 DYNC1H1 CHD2 CAMK2B AUTS2 ARID1B ANKRD11
7 intellectual disability - hypoplastic corpus callosum - preauricular tag 32.9 CREBBP AUTS2 ARID1B
8 agenesis of corpus callosum, cardiac, ocular, and genital syndrome 32.8 DDX3X AUTS2 ANKRD11 AHDC1
9 rare genetic intellectual disability 32.7 DDX3X CREBBP ARID1B ANKRD11
10 white-sutton syndrome 32.7 ASXL3 AHDC1
11 cornelia de lange syndrome 32.6 CREBBP ASXL3 ARID1B ANKRD11
12 seizure disorder 32.3 DYNC1H1 DHX30 CUL4B CHD2 BPTF ANKRD11
13 kabuki syndrome 1 32.2 CREBBP ANKRD11 ACTB
14 lissencephaly 31.2 DYNC1H1 CRADD ARX ACTB
15 corpus callosum, agenesis of 31.1 CREBBP AUTS2 ARID1B
16 familial isolated trichomegaly 30.6 CREBBP ARID1B ANKRD11
17 alpha thalassemia-x-linked intellectual disability syndrome 11.7
18 deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome 11.6
19 christianson syndrome 11.6
20 smith-kingsmore syndrome 11.6
21 pettigrew syndrome 11.6
22 mental retardation, x-linked 99, syndromic, female-restricted 11.6
23 kaufman oculocerebrofacial syndrome 11.6
24 mowat-wilson syndrome 11.6
25 wieacker-wolff syndrome 11.6
26 renpenning syndrome 1 11.6
27 hivep2-related intellectual disability 11.5
28 mental retardation with language impairment and with or without autistic features 11.5
29 wilson-turner x-linked mental retardation syndrome 11.5
30 ohdo syndrome 11.5
31 xia-gibbs syndrome 11.5
32 syndromic x-linked intellectual disability snyder type 11.5
33 muscular dystrophy, congenital, with cataracts and intellectual disability 11.5
34 non-syndromic x-linked intellectual disability 11.5
35 syndromic x-linked intellectual disability 7 11.5
36 lubs x-linked mental retardation syndrome 11.5
37 mental retardation, x-linked, syndromic, turner type 11.5
38 mental retardation and microcephaly with pontine and cerebellar hypoplasia 11.5
39 syndromic x-linked intellectual disability shashi type 11.5
40 ohdo syndrome, sbbys variant 11.5
41 helsmoortel-van der aa syndrome 11.5
42 koolen-de vries syndrome 11.5
43 x-linked intellectual disability, siderius type 11.5
44 syngap1-related intellectual disability 11.5
45 syndromic intellectual disability 11.5
46 spastic paraplegia, intellectual disability, nystagmus, and obesity 11.5
47 intellectual disability - athetosis - microphthalmia 11.5
48 mental retardation, x-linked, syndromic 13 11.5
49 filippi syndrome 11.5
50 chung-jansen syndrome 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
Sources

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

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

31 (show all 17)
# Description HPO Frequency HPO Source Accession
1 nystagmus 31 occasional (7.5%) HP:0000639
2 gait disturbance 31 occasional (7.5%) HP:0001288
3 hearing impairment 31 occasional (7.5%) HP:0000365
4 hyperkeratosis 31 occasional (7.5%) HP:0000962
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 dysphagia 31 HP:0002015
14 global developmental delay 31 HP:0001263
15 achalasia 31 HP:0002571
16 feeding difficulties 31 HP:0011968
17 alacrima 31 HP:0000522

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 05-Apr-2021)

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 (show all 41)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-112 9.96 BPTF
2 Increased shRNA abundance (Z-score > 2) GR00366-A-119 9.96 DDX3X
3 Increased shRNA abundance (Z-score > 2) GR00366-A-12 9.96 BPTF
4 Increased shRNA abundance (Z-score > 2) GR00366-A-132 9.96 ACTB
5 Increased shRNA abundance (Z-score > 2) GR00366-A-139 9.96 BPTF
6 Increased shRNA abundance (Z-score > 2) GR00366-A-144 9.96 CNKSR2
7 Increased shRNA abundance (Z-score > 2) GR00366-A-151 9.96 ACTB
8 Increased shRNA abundance (Z-score > 2) GR00366-A-153 9.96 ACTB
9 Increased shRNA abundance (Z-score > 2) GR00366-A-154 9.96 CNKSR2
10 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.96 BPTF
11 Increased shRNA abundance (Z-score > 2) GR00366-A-180 9.96 BPTF
12 Increased shRNA abundance (Z-score > 2) GR00366-A-185 9.96 BPTF
13 Increased shRNA abundance (Z-score > 2) GR00366-A-187 9.96 DDX3X
14 Increased shRNA abundance (Z-score > 2) GR00366-A-189 9.96 ACTB
15 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.96 BPTF
16 Increased shRNA abundance (Z-score > 2) GR00366-A-194 9.96 DDX3X
17 Increased shRNA abundance (Z-score > 2) GR00366-A-199 9.96 DDX3X
18 Increased shRNA abundance (Z-score > 2) GR00366-A-20 9.96 DDX3X
19 Increased shRNA abundance (Z-score > 2) GR00366-A-202 9.96 BPTF DDX3X
20 Increased shRNA abundance (Z-score > 2) GR00366-A-207 9.96 DDX3X
21 Increased shRNA abundance (Z-score > 2) GR00366-A-208 9.96 DDX3X
22 Increased shRNA abundance (Z-score > 2) GR00366-A-21 9.96 ACTB
23 Increased shRNA abundance (Z-score > 2) GR00366-A-211 9.96 DDX3X
24 Increased shRNA abundance (Z-score > 2) GR00366-A-212 9.96 BPTF
25 Increased shRNA abundance (Z-score > 2) GR00366-A-216 9.96 DDX3X
26 Increased shRNA abundance (Z-score > 2) GR00366-A-26 9.96 DDX3X
27 Increased shRNA abundance (Z-score > 2) GR00366-A-27 9.96 DDX3X
28 Increased shRNA abundance (Z-score > 2) GR00366-A-30 9.96 CNKSR2
29 Increased shRNA abundance (Z-score > 2) GR00366-A-36 9.96 BPTF
30 Increased shRNA abundance (Z-score > 2) GR00366-A-4 9.96 BPTF
31 Increased shRNA abundance (Z-score > 2) GR00366-A-45 9.96 CNKSR2
32 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.96 DDX3X
33 Increased shRNA abundance (Z-score > 2) GR00366-A-52 9.96 BPTF DDX3X
34 Increased shRNA abundance (Z-score > 2) GR00366-A-54 9.96 DDX3X
35 Increased shRNA abundance (Z-score > 2) GR00366-A-60 9.96 CNKSR2
36 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.96 DDX3X
37 Increased shRNA abundance (Z-score > 2) GR00366-A-82 9.96 DDX3X
38 Increased shRNA abundance (Z-score > 2) GR00366-A-86 9.96 CNKSR2
39 Increased shRNA abundance (Z-score > 2) GR00366-A-90 9.96 CNKSR2
40 Increased shRNA abundance (Z-score > 2) GR00366-A-92 9.96 DDX3X
41 Increased shRNA abundance (Z-score > 2) GR00366-A-98 9.96 DDX3X

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 10.21 ACTB ANKRD11 ARID1B ARX AUTS2 CAMK2A
2 growth/size/body region MP:0005378 10.17 ACTB ANKRD11 ARID1B ARX AUTS2 BPTF
3 homeostasis/metabolism MP:0005376 10.13 ACTB ANKRD11 ARID1B ARX ASXL3 BPTF
4 mortality/aging MP:0010768 10.03 ACTB ANKRD11 ARID1B ARX AUTS2 BPTF
5 muscle MP:0005369 9.5 ACTB ARID1B ARX CHD2 CREBBP DDX3X
6 nervous system MP:0003631 9.36 ACTB ARID1B ARX AUTS2 CAMK2A CAMK2B
Sources

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

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

(show top 50) (show all 128)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Zonisamide Approved, Investigational Phase 4 68291-97-4 5734
2
Rufinamide Approved Phase 4 106308-44-5 129228
3
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
4
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
5
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
6
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
7
Acetazolamide Approved, Vet_approved Phase 4 59-66-5 1986
8
Ethosuximide Approved Phase 4 77-67-8 3291
9
Vigabatrin Approved Phase 4 60643-86-9, 68506-86-5 5665
10
Phenobarbital Approved, Investigational Phase 4 50-06-6 4763
11
Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
12
Phenytoin Approved, Vet_approved Phase 4 57-41-0 1775
13
Gabapentin Approved, Investigational Phase 4 60142-96-3 3446
14
Clonazepam Approved, Illicit Phase 4 1622-61-3 2802
15
Felbamate Approved Phase 4 25451-15-4 3331
16
Pregabalin Approved, Investigational Phase 4 148553-50-8 5486971
17
Tiagabine Approved, Investigational Phase 4 115103-54-3 60648
18
Clobazam Approved, Illicit Phase 4 22316-47-8 2789
19
Lamotrigine Approved, Investigational Phase 4 84057-84-1 3878
20
Topiramate Approved Phase 4 97240-79-4 5284627
21
Levetiracetam Approved Phase 4 102767-28-2 441341
22
Nitrazepam Approved Phase 4 146-22-5 4506
23
Carbamazepine Approved, Investigational Phase 4 298-46-4 2554
24
Oxcarbazepine Approved Phase 4 28721-07-5 34312
25
Valproic acid Approved, Investigational Phase 4 99-66-1 3121
26
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
27 Methylprednisolone Acetate Phase 4
28 Anticonvulsants Phase 4
29
Ethanol Approved Phase 3 64-17-5 702
30
Naltrexone Approved, Investigational, Vet_approved Phase 3 16590-41-3 5360515
31
Hydrocortisone Approved, Vet_approved Phase 3 50-23-7 5754
32
Hydrocortisone acetate Approved, Vet_approved Phase 3 50-03-3
33
Sertraline Approved Phase 3 79617-96-2 68617
34
Acetylcholine Approved, Investigational Phase 3 51-84-3 187
35
Metformin Approved Phase 2, Phase 3 657-24-9 4091 14219
36 Narcotics Phase 3
37 neurokinin A Phase 3
38
Substance P Phase 3 33507-63-0 44359816
39 Enkephalins Phase 3
40 Hydrocortisone hemisuccinate Phase 3
41 Enkephalin, Methionine Phase 3
42 Hydrocortisone 17-butyrate 21-propionate Phase 3
43 Narcotic Antagonists Phase 3
44 Anesthetics Phase 3
45 Muscarinic Antagonists Phase 3
46
Glycopyrrolate Phase 3 596-51-0 3494
47 Cholinergic Agents Phase 3
48 Cholinergic Antagonists Phase 3
49 abobotulinumtoxinA Phase 3
50 incobotulinumtoxinA Phase 3

Interventional clinical trials:

(show top 50) (show all 186)
# 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 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
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 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
9 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
10 A Double-Blind, Placebo-Controlled Trial of Metformin in Individuals With Fragile X Syndrome Recruiting NCT03479476 Phase 2, Phase 3 Placebo Medication;Metformin
11 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
12 Effects of Social Gaze Training on Brain and Behavior in Fragile X Syndrome Unknown status NCT02616796 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 Double-Blind, Placebo-Controlled Trial of Metformin in Individuals With Fragile X Syndrome (FXS) Recruiting NCT03862950 Phase 2 Placebo Medication;Metformin
16 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
17 Microbiota Transfer Therapy for Children With Both Pitt Hopkins Syndrome and Gastrointestinal Disorders Recruiting NCT04132427 Phase 2
18 A Randomized Placebo-controlled Trial of Cannabidiol to Treat Severe Behavioral Problems in Children and Adolescents With Intellectual Disability Not yet recruiting NCT04821856 Phase 2 Cannabidiol Oil;Placebo
19 Phase II Study of Stereotypes and Mental Retardation: Neurobiological Basis Suspended NCT00004300 Phase 2 bromocriptine;sertraline hydrochloride
20 PREDICTORS (Parents Resources for Decreasing the Incidence of Change Triggered Temper Outbursts) Completed NCT02567357 Phase 1
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 Cross-Species Multi-Modal Neuroimaging to Investigate GABA Physiology in Fragile X Syndrome Terminated NCT04308954 Phase 1 [18F]flumazenil
23 Stem Cell Therapy in Mental Retardation Withdrawn NCT02245724 Phase 1
24 Augmentative and Alternative Communication in Games With Virtual Reality in Intellectual Disabilities Unknown status NCT03033797
25 Second Molecular Event Identification by Exome Sequencing for Intellectually Disabled Patients Carrying 16p13.11 CNVs Unknown status NCT03644797
26 Conducting Functional Communication Training (FCT) With Young Children With Intellectual Disabilities in NHS Settings in the UK: A Feasibility Project Unknown status NCT02721394
27 Evaluation of Tools for the Simultaneous Detection of Point and Structural Mutations in Patients With Intellectual Disability Unknown status NCT02881333
28 Clinical Collaborative Research of Whole Genome Sequencing in the Detection of Rare Undiagnosed Genetic Diseases in Children in China Unknown status NCT03424772
29 A Pattern of Dental Treatment and Oral Rehabilitation for Adult Individuals With Intellectual Disability in General Anaesthesia Unknown status NCT03823976
30 Evaluating a Picture-based Computerised Assessment and Training Paradigm for Cognitive Behaviour Therapy Skills in Adults With Intellectual Disabilities Unknown status NCT01652963
31 Clinical Phenotyping and Characterization of Neural Networks and Cognitive Processes Involved in Mental Retardation X-linked Unknown status NCT02854956
32 Pain and Emotional Expression in Children With Autism or Mental Retardation Unknown status NCT01043822
33 The Additive Effect of Cognitive Behavioral Treatment - CBT to Conventional Weight Loss Intervention Program for Young Adults With Intellectual Disabilities Unknown status NCT01032369
34 Evaluation of METAglut1 Diagnostic Test Performances in Patients With a Clinical Suspicion of GLUT1 Deficiency Syndrome Unknown status NCT03722212
35 Non Invasive Prenatal Test of Rare Genetic Diseases: Application to Rare Intellectual Disabilities Unknown status NCT03688594
36 Risk Evaluation of Fetal Nervous System and Neurodevelopment Disorders in Infants of Women Exposed to Zika Virus Infection During Pregnancy Unknown status NCT02943304
37 Genetic Disease Gene Identification Unknown status NCT00916903
38 Demographic Characteristics of Children Suffering From Mental Retardation or Cerebral Palsy in the Israeli Arab Community Unknown status NCT02214745
39 Investigation of the Effectiveness of Video Based Games on Upper Extremity Functions in Mild Mental Retardation Diagnosed Cases Unknown status NCT03503955
40 Supervised Toothbrushing Programme and Oral Health Education for Intellectual Disabled Students: A Cluster Randomised Controlled Trial Unknown status NCT03234231
41 The Associative Memory in Autism Spectrum Disorders Without Intellectual Disability Unknown status NCT02279680
42 Effects of Vocational Rehabilitation Group Intervention on Motivation and Occupational Self-Awareness in Individuals With Intellectual Disabilities: A Single-Blind, Randomized Control Study Completed NCT04728074
43 Psychomotor Therapy Effects Adaptive Behavior and Motor Proficiency of Adults With Intellectual Disability Completed NCT02746614
44 Screening for Glucose Intolerance and Development of a Lifestyle Education Programme for Prevention of Type 2 Diabetes in a Population With Learning Disabilities Completed NCT02513277
45 Psychotropic Medication and Psychotherapeutic Treatment of Adults With Intellectual Disabilities Completed NCT03558815
46 School-based Physical Activity Intervention for Obesity Among Adolescents With Intellectual Disability in Hong Kong Completed NCT04463069
47 Evaluation of Family Networks (FaNs) for Children With Developmental Disorders and Delays Program: A Cluster Randomized Control Trial Completed NCT02792894
48 Efficacy of a Health Intervention for People With Intellectual Disabilities Completed NCT00597948
49 Reducing Aggressive Behaviour Among People With an Intellectual Disability Through Supplementation of Vitamins, Minerals and n-3 Fatty Acids Completed NCT03212092
50 Parent Supports Intervention Project for Parents of Adults With Developmental Disabilities Completed NCT01981070

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

Inferred drug relations via UMLS 70 / NDF-RT 51 :


Buspirone
buspirone hydrochloride

Cochrane evidence based reviews: intellectual disability

Sources

Genetic Tests for Alacrima, Achalasia, and Mental Retardation Syndrome

About this section

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

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

Anatomical Context for Alacrima, Achalasia, and Mental Retardation Syndrome

About this section

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

40
Brain, Cortex, Eye, Breast, Thyroid, Skin, Kidney
Sources

Publications for Alacrima, Achalasia, and Mental Retardation Syndrome

About this section

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

(show top 50) (show all 15165)
# Title Authors PMID Year
1
Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction. 57 6 61
24035193 2013
2
BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms. 6 61
33232675 2020
3
Defective tubulin detyrosination causes structural brain abnormalities with cognitive deficiency in humans and mice. 61 6
31363758 2019
4
Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders. 6 61
31616000 2019
5
Loss of function of SVBP leads to autosomal recessive intellectual disability, microcephaly, ataxia, and hypotonia. 6 61
30607023 2019
6
SCAPER localizes to primary cilia and its mutation affects cilia length, causing Bardet-Biedl syndrome. 61 6
30723319 2019
7
De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism. 61 6
30661772 2019
8
Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability. 61 6
30167849 2018
9
MAP1B mutations cause intellectual disability and extensive white matter deficit. 6 61
30150678 2018
10
De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures. 6 61
29961568 2018
11
Toward clinical and molecular understanding of pathogenic variants in the ZBTB18 gene. 61 6
29573576 2018
12
Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families. 6 61
28397838 2018
13
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. 6 61
29100089 2017
14
Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU. 6 61
28283832 2017
15
A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3. 6 61
28017372 2017
16
De novo PHIP-predicted deleterious variants are associated with developmental delay, intellectual disability, obesity, and dysmorphic features. 61 6
27900362 2016
17
Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A. 61 6
25920557 2015
18
Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features. 6 61
25728777 2015
19
NGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathy. 6 61
25220016 2015
20
Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing. 6 61
25167861 2014
21
The contribution of de novo coding mutations to autism spectrum disorder. 6 61
25363768 2014
22
De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea. 61 6
24791903 2014
23
Diagnostic exome sequencing in persons with severe intellectual disability. 6 61
23033978 2012
24
NF1 microduplications: identification of seven nonrelated individuals provides further characterization of the phenotype. 61 6
22241097 2012
25
A pathogenic UFSP2 variant in an autosomal recessive form of pediatric neurodevelopmental anomalies and epilepsy. 6
33473208 2021
26
ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy. 6
32219868 2020
27
Whole-genome sequencing of patients with rare diseases in a national health system. 6
32581362 2020
28
A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy. 6
31104773 2019
29
SYT1-associated neurodevelopmental disorder: a case series. 6
30107533 2018
30
IRF2BPL Is Associated with Neurological Phenotypes. 6
30057031 2018
31
Abnormal differentiation of B cells and megakaryocytes in patients with Roifman syndrome. 6
29391254 2018
32
A de novo missense mutation of GABRB2 causes early myoclonic encephalopathy. 6
27789573 2017
33
Prevalence and architecture of de novo mutations in developmental disorders. 6
28135719 2017
34
A homozygous mutation in the stem II domain of RNU4ATAC causes typical Roifman syndrome. 6
29263834 2017
35
Refining the phenotypical and mutational spectrum of Taybi-Linder syndrome. 6
27040866 2016
36
Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures. 6
27108799 2016
37
Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations. 6
26805781 2016
38
Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease. 6
26539891 2015
39
Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing. 6
26522830 2015
40
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 6
25741868 2015
41
Further delineation of the clinical spectrum in RNU4ATAC related microcephalic osteodysplastic primordial dwarfism type I. 6
23794361 2013
42
Exome sequencing reveals new causal mutations in children with epileptic encephalopathies. 6
23647072 2013
43
Mutations in U4atac snRNA, a component of the minor spliceosome, in the developmental disorder MOPD I. 6
21474760 2011
44
Treatment experience in two adults with creatinfe transporter deficiency. 61
33665121 2021
45
A woman with a dual genetic diagnosis of autosomal dominant tubulointerstitial kidney disease and KBG syndrome. 61
33048330 2021
46
Development of the Fearless, Tearless Transition model of care for adolescents with an intellectual disability and/or autism spectrum disorder with mental health comorbidities. 61
33332592 2021
47
Daily living skills in adolescents with autism spectrum disorder: Implications for intervention and independence. 61
33796139 2021
48
Short report and initial evaluation of the factor structure of the Lancaster and Northgate Trauma Scales (LANTS). 61
33631599 2021
49
Electroencephalographic findings and genetic characterization of two brothers with IQSEC2 pathogenic variant. 61
33494955 2021
50
Insights into the regulatory role and clinical relevance of mediator subunit, MED12, in human diseases. 61
33174211 2021
Sources

Variations for Alacrima, Achalasia, and Mental Retardation Syndrome

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

6 (show top 50) (show all 2613)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RAC3 NM_005052.3(RAC3):c.86C>T (p.Pro29Leu) SNV association 585004 rs1568018697 GRCh37: 17:79990313-79990313
GRCh38: 17:82032437-82032437
2 RAC3 NM_005052.3(RAC3):c.182A>T (p.Gln61Leu) SNV association 585005 rs1568018920 GRCh37: 17:79990661-79990661
GRCh38: 17:82032785-82032785
3 AP4M1 NM_004722.4(AP4M1):c.1117C>T (p.Gln373Ter) SNV Pathogenic 973233 GRCh37: 7:99704117-99704117
GRCh38: 7:100106494-100106494
4 AP4M1 NM_004722.4(AP4M1):c.974+2dup Duplication Pathogenic 981457 GRCh37: 7:99703627-99703628
GRCh38: 7:100106004-100106005
5 SETD5 NM_001080517.3(SETD5):c.2168dup (p.Leu723fs) Duplication Pathogenic 981664 GRCh37: 3:9490133-9490134
GRCh38: 3:9448449-9448450
6 PHF6 NM_001015877.2(PHF6):c.27del (p.Pro11fs) Deletion Pathogenic 981735 GRCh37: X:133511669-133511669
GRCh38: X:134377639-134377639
7 KDM5C NM_004187.5(KDM5C):c.3332_3335del (p.Asp1111fs) Deletion Pathogenic 981741 GRCh37: X:53224216-53224219
GRCh38: X:53195034-53195037
8 CYFIP2 NM_001037333.3(CYFIP2):c.1918G>A (p.Glu640Lys) SNV Pathogenic 973750 GRCh37: 5:156752582-156752582
GRCh38: 5:157325574-157325574
9 CHAMP1 NM_032436.4(CHAMP1):c.1858A>T (p.Lys620Ter) SNV Pathogenic 981896 GRCh37: 13:115091175-115091175
GRCh38: 13:114325700-114325700
10 CRADD NM_003805.5(CRADD):c.2T>C (p.Met1Thr) SNV Pathogenic 981900 GRCh37: 12:94072552-94072552
GRCh38: 12:93678776-93678776
11 CRADD NM_003805.5(CRADD):c.509G>A (p.Arg170His) SNV Pathogenic 372191 rs141179774 GRCh37: 12:94243956-94243956
GRCh38: 12:93850180-93850180
12 DYRK1A GRCh37/hg19 21q22.13(chr21:38719388-38887895) copy number loss Pathogenic 982249 GRCh37: 21:38719388-38887895
GRCh38:
13 overlap with 2 genes GRCh37/hg19 16p13.11(chr16:15737239-15820210) copy number loss Pathogenic 982250 GRCh37: 16:15737239-15820210
GRCh38:
14 overlap with 3 genes Deletion Pathogenic 982251 GRCh37: 22:51114980-51304566
GRCh38:
15 GATAD2B NM_020699.4(GATAD2B):c.1417C>T (p.Gln473Ter) SNV Pathogenic 983278 GRCh37: 1:153785728-153785728
GRCh38: 1:153813252-153813252
16 ZBTB18 NM_205768.3(ZBTB18):c.1391G>A SNV Pathogenic 617452 rs1558149913 GRCh37: 1:244218467-244218467
GRCh38: 1:244055165-244055165
17 HNRNPK NM_031263.4(HNRNPK):c.1294del (p.Asp432fs) Deletion Pathogenic 981894 GRCh37: 9:86585144-86585144
GRCh38: 9:83970229-83970229
18 ANKLE2 NM_015114.3(ANKLE2):c.1870C>T (p.Arg624Ter) SNV Pathogenic 930179 GRCh37: 12:133310992-133310992
GRCh38: 12:132734406-132734406
19 KMT2A NM_001197104.2(KMT2A):c.7020del (p.Asn2340fs) Deletion Pathogenic 992730 GRCh37: 11:118373627-118373627
GRCh38: 11:118502912-118502912
20 overlap with 13 genes GRCh37/hg19 8p23.3-23.1(chr8:191530-6644251) copy number loss Pathogenic 523289 GRCh37: 8:191530-6644251
GRCh38:
21 UFSP2 , C4orf47 NM_018359.5(UFSP2):c.344T>A (p.Val115Glu) SNV Pathogenic 932944 rs142500730 GRCh37: 4:186337011-186337011
GRCh38: 4:185415857-185415857
22 GNB1 NM_002074.5(GNB1):c.284T>C (p.Leu95Pro) SNV Pathogenic 224716 rs869312824 GRCh37: 1:1736004-1736004
GRCh38: 1:1804565-1804565
23 AHDC1 NM_001029882.3(AHDC1):c.2547del (p.Ser850fs) Deletion Pathogenic 133328 rs587779768 GRCh37: 1:27876080-27876080
GRCh38: 1:27549569-27549569
24 PURA NM_005859.5(PURA):c.303_304TC[2] (p.Ser103fs) Microsatellite Pathogenic 156404 rs587782992 GRCh37: 5:139494068-139494069
GRCh38: 5:140114483-140114484
25 PURA NM_005859.5(PURA):c.556C>T (p.Gln186Ter) SNV Pathogenic 156405 rs587782993 GRCh37: 5:139494322-139494322
GRCh38: 5:140114737-140114737
26 PURA NM_005859.5(PURA):c.299T>C (p.Leu100Pro) SNV Pathogenic 156407 rs587782995 GRCh37: 5:139494065-139494065
GRCh38: 5:140114480-140114480
27 PURA NM_005859.5(PURA):c.783C>G (p.Tyr261Ter) SNV Pathogenic 156409 rs587782997 GRCh37: 5:139494549-139494549
GRCh38: 5:140114964-140114964
28 PURA NM_005859.5(PURA):c.470T>A (p.Met157Lys) SNV Pathogenic 156410 rs587782998 GRCh37: 5:139494236-139494236
GRCh38: 5:140114651-140114651
29 PURA NM_005859.5(PURA):c.265G>C (p.Ala89Pro) SNV Pathogenic 156411 rs587782999 GRCh37: 5:139494031-139494031
GRCh38: 5:140114446-140114446
30 PURA NM_005859.5(PURA):c.263_265del (p.Ile88_Ala89delinsThr) Deletion Pathogenic 156412 rs587783000 GRCh37: 5:139494029-139494031
GRCh38: 5:140114444-140114446
31 overlap with 24 genes NC_000006.11:g.(116681080_116735056)_(119687719_119775014)del Deletion Pathogenic 180227 GRCh37: 6:116681080-119775014
GRCh38:
32 GRIN2B NM_000834.5(GRIN2B):c.1439_1446del (p.Leu480fs) Deletion Pathogenic 916029 GRCh37: 12:13768481-13768488
GRCh38: 12:13615547-13615554
33 overlap with 33 genes NC_000006.11:g.116734559_123648104del Deletion Pathogenic 978186 GRCh37: 6:116734559-123648104
GRCh38:
34 MAPK1 NM_002745.5(MAPK1):c.221T>A (p.Ile74Asn) SNV Pathogenic 917742 GRCh37: 22:22162034-22162034
GRCh38: 22:21807745-21807745
35 MAPK1 NM_002745.5(MAPK1):c.238C>T (p.His80Tyr) SNV Pathogenic 917743 GRCh37: 22:22162017-22162017
GRCh38: 22:21807728-21807728
36 MAPK1 NM_002745.5(MAPK1):c.952G>A (p.Asp318Asn) SNV Pathogenic 917745 GRCh37: 22:22127176-22127176
GRCh38: 22:21772887-21772887
37 MAPK1 NM_002745.5(MAPK1):c.953A>G (p.Asp318Gly) SNV Pathogenic 917746 GRCh37: 22:22127175-22127175
GRCh38: 22:21772886-21772886
38 MAPK1 NM_002745.5(MAPK1):c.964G>C (p.Glu322Gln) SNV Pathogenic 917748 GRCh37: 22:22127164-22127164
GRCh38: 22:21772875-21772875
39 MAPK1 NM_002745.5(MAPK1):c.968C>G (p.Pro323Arg) SNV Pathogenic 917749 GRCh37: 22:22123608-22123608
GRCh38: 22:21769319-21769319
40 HCFC1 NM_005334.3(HCFC1):c.218C>T (p.Ala73Val) SNV Pathogenic 66985 rs397515486 GRCh37: X:153230153-153230153
GRCh38: X:153964702-153964702
41 TCF20 NM_005650.3(TCF20):c.3760dup (p.Arg1254fs) Duplication Pathogenic 590792 rs1569146649 GRCh37: 22:42607551-42607552
GRCh38: 22:42211545-42211546
42 TCF20 NM_005650.3(TCF20):c.4774C>T (p.Gln1592Ter) SNV Pathogenic 599400 rs1601592351 GRCh37: 22:42606538-42606538
GRCh38: 22:42210532-42210532
43 BICRA NM_015711.3(BICRA):c.3247dup (p.Cys1083fs) Duplication Pathogenic 996135 GRCh37: 19:48199767-48199768
GRCh38: 19:47696510-47696511
44 ANKRD11 NM_013275.6(ANKRD11):c.5317G>T (p.Glu1773Ter) SNV Pathogenic 242882 rs1114167291 GRCh37: 16:89347633-89347633
GRCh38: 16:89281225-89281225
45 GRIA3 NM_007325.5(GRIA3):c.2327C>T (p.Thr776Met) SNV Pathogenic 625211 rs780680047 GRCh37: X:122613916-122613916
GRCh38: X:123480065-123480065
46 AHDC1 NM_001029882.3(AHDC1):c.2898del (p.Tyr967fs) Deletion Pathogenic 133327 rs587779767 GRCh37: 1:27875729-27875729
GRCh38: 1:27549218-27549218
47 overlap with 88 genes GRCh37/hg19 8q24.3(chr8:142840194-146280020) copy number gain Pathogenic 523293 GRCh37: 8:142840194-146280020
GRCh38:
48 SVBP NM_199342.4(SVBP):c.82C>T (p.Gln28Ter) SNV Pathogenic 635968 rs1570520175 GRCh37: 1:43282134-43282134
GRCh38: 1:42816463-42816463
49 SVBP NM_199342.4(SVBP):c.39_42del (p.Lys13fs) Deletion Pathogenic 635969 rs1570520229 GRCh37: 1:43282174-43282177
GRCh38: 1:42816503-42816506
50 KCNQ2 NM_172107.4(KCNQ2):c.628C>T (p.Arg210Cys) SNV Pathogenic 205873 rs796052626 GRCh37: 20:62076074-62076074
GRCh38: 20:63444721-63444721

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

72
# 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 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
Sources

Expression for Alacrima, Achalasia, and Mental Retardation Syndrome

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

Pathways for Alacrima, Achalasia, and Mental Retardation Syndrome

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

# Super pathways Score Top Affiliating Genes
1
HIF-1 signaling pathway 36
11.58 CREBBP CAMK2B CAMK2A
2
Glucagon signaling pathway 36
11.53 CREBBP CAMK2B CAMK2A
3
Immune response IFN gamma signaling pathway 23
Show member pathways
 11.34 CREBBP CAMK2B CAMK2A
4
Transcription Ligand-dependent activation of the ESR1/SP pathway 23
Show member pathways
 11.28 CREBBP ARID1B ACTB
5
Long-term potentiation 36
Show member pathways
 10.96 CREBBP CAMK2B CAMK2A ACTB
6
HSF1-dependent transactivation 65
Show member pathways
 10.72 CREBBP CAMK2B CAMK2A
Sources

GO Terms for Alacrima, Achalasia, and Mental Retardation Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10 GMPPA DYNC1H1 DUSP29 DHX30 DDX3X CREBBP
2 nucleus GO:0005634 9.8 DUSP29 DDX3X CUL4B CREBBP CRADD CHD2
3 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 stress granule assembly GO:0034063 9.26 DYNC1H1 DDX3X
2 regulation of neuron migration GO:2001222 9.16 CAMK2B CAMK2A
3 ribosome biogenesis GO:0042254 9.13 DHX30 DDX3X CUL4B
4 regulation of cellular response to heat GO:1900034 8.8 CREBBP CAMK2B CAMK2A

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

# Name GO ID Score Top Affiliating Genes
1 ATP binding GO:0005524 9.5 DYNC1H1 DHX30 DDX3X CHD2 CAMK2B CAMK2A
2 calmodulin-dependent protein kinase activity GO:0004683 9.16 CAMK2B CAMK2A
3 chromatin binding GO:0003682 9.02 DHX30 CREBBP AUTS2 ASXL3 ARX
Sources

Sources for Alacrima, Achalasia, and Mental Retardation Syndrome

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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