AAMR
MCID: ALC028
MIFTS: 68

Alacrima, Achalasia, and Mental Retardation Syndrome (AAMR)

Categories: Genetic diseases

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

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

Name: Alacrima, Achalasia, and Mental Retardation Syndrome 57 73 29 6 39 71
Intellectual Disability 44 39 71
Aamr 57 73

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
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® : 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-Mar-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 Vigabatrin and Rufinamide have been mentioned in the context of this disorder. Affiliated tissues include brain, heart and bone, and related phenotypes are nystagmus and gait disturbance

UniProtKB/Swiss-Prot : 73 Alacrima, achalasia, and mental retardation syndrome: An autosomal recessive disorder characterized by onset of alacrima, achalasia, and mental retardation at birth or in early infancy. More variable features include hypotonia, gait abnormalities, anisocoria, and visual or hearing deficits. The disorder shows similarity to the triple A syndrome, but patients with AAMR do not have adrenal insufficiency.

Related Diseases for Alacrima, Achalasia, and Mental Retardation Syndrome

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

(show top 50) (show all 2316)
# Related Disease Score Top Affiliating Genes
1 autosomal dominant non-syndromic intellectual disability 33.6 EEF1A2 DYRK1A DYNC1H1 CREBBP CAMK2B CAMK2A
2 microcephaly 33.3 DYRK1A DYNC1H1 DHX30 DDX3X CREBBP CAMK2B
3 syndromic intellectual disability 33.2 DYRK1A DDX3X CNKSR2 ARX
4 non-syndromic intellectual disability 33.1 ARX ARID1B AHDC1
5 disease of mental health 33.1 EEF1A2 DYRK1A DYNC1H1 DUSP29 DHX30 DDX3X
6 autism 32.9 DYRK1A DHX30 CAMK2B CAMK2A BPTF ARX
7 rare genetic intellectual disability 32.7 DDX3X CREBBP ARID1B ANKRD11
8 white-sutton syndrome 32.6 ASXL3 AHDC1
9 agenesis of corpus callosum, cardiac, ocular, and genital syndrome 32.6 DDX3X ANKRD11 AHDC1
10 cornelia de lange syndrome 32.6 CREBBP ASXL3 ARID1B ANKRD11
11 kabuki syndrome 1 32.3 CREBBP ANKRD11 ACTB
12 seizure disorder 32.3 DYRK1A DYNC1H1 DHX30 CHD2 BPTF ANKRD11
13 familial isolated trichomegaly 30.1 ARID1B ANKRD11
14 alpha thalassemia-x-linked intellectual disability syndrome 11.7
15 deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome 11.6
16 christianson syndrome 11.6
17 pettigrew syndrome 11.6
18 smith-kingsmore syndrome 11.6
19 kaufman oculocerebrofacial syndrome 11.6
20 mental retardation, x-linked 99, syndromic, female-restricted 11.6
21 mowat-wilson syndrome 11.6
22 wieacker-wolff syndrome 11.6
23 renpenning syndrome 1 11.6
24 hivep2-related intellectual disability 11.5
25 wilson-turner x-linked mental retardation syndrome 11.5
26 mental retardation with language impairment and with or without autistic features 11.5
27 ohdo syndrome 11.5
28 xia-gibbs syndrome 11.5
29 muscular dystrophy, congenital, with cataracts and intellectual disability 11.5
30 syndromic x-linked intellectual disability snyder type 11.5
31 non-syndromic x-linked intellectual disability 11.5
32 lubs x-linked mental retardation syndrome 11.5
33 mental retardation, x-linked, syndromic, turner type 11.5
34 mental retardation and microcephaly with pontine and cerebellar hypoplasia 11.5
35 ohdo syndrome, sbbys variant 11.5
36 x-linked intellectual disability, siderius type 11.5
37 helsmoortel-van der aa syndrome 11.5
38 koolen-de vries syndrome 11.5
39 syngap1-related intellectual disability 11.5
40 spastic paraplegia, intellectual disability, nystagmus, and obesity 11.5
41 intellectual disability - athetosis - microphthalmia 11.5
42 mental retardation, x-linked, syndromic 13 11.5
43 filippi syndrome 11.5
44 prieto x-linked mental retardation syndrome 11.5
45 chung-jansen syndrome 11.5
46 waisman syndrome 11.5
47 mental retardation, x-linked, syndromic, martin-probst type 11.5
48 x-linked intellectual disability, najm type 11.5
49 partington x-linked mental retardation syndrome 11.5
50 immunodeficiency 49 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:

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-Mar-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-Mar-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 42)
# 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
42 Decreased Aire reporter expression GR00304-A 9.26 CHD2 DDX3X DHX30 EEF1A2

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 CAMK2A CAMK2B
2 growth/size/body region MP:0005378 10.17 ACTB ANKRD11 ARID1B ARX BPTF CAMK2A
3 homeostasis/metabolism MP:0005376 10.1 ACTB ANKRD11 ARID1B ARX ASXL3 BPTF
4 mortality/aging MP:0010768 10 ACTB ANKRD11 ARID1B ARX BPTF CAMK2A
5 muscle MP:0005369 9.56 ACTB ARID1B ARX CHD2 CREBBP DDX3X
6 nervous system MP:0003631 9.36 ACTB ARID1B ARX CAMK2A CAMK2B CREBBP

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 126)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Vigabatrin Approved Phase 4 60643-86-9, 68506-86-5 5665
2
Rufinamide Approved Phase 4 106308-44-5 129228
3
Phenobarbital Approved, Investigational Phase 4 50-06-6 4763
4
Clobazam Approved, Illicit Phase 4 22316-47-8 2789
5 Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
6
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
7
Oxcarbazepine Approved Phase 4 28721-07-5 34312
8
Nitrazepam Approved Phase 4 146-22-5 4506
9
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
10
Clonazepam Approved, Illicit Phase 4 1622-61-3 2802
11
Gabapentin Approved, Investigational Phase 4 60142-96-3 3446
12
Felbamate Approved Phase 4 25451-15-4 3331
13
Acetazolamide Approved, Vet_approved Phase 4 59-66-5 1986
14
Levetiracetam Approved Phase 4 102767-28-2 441341
15
Ethosuximide Approved Phase 4 77-67-8 3291
16
Topiramate Approved Phase 4 97240-79-4 5284627
17
Lamotrigine Approved, Investigational Phase 4 84057-84-1 3878
18
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
19
Phenytoin Approved, Vet_approved Phase 4 57-41-0 1775
20
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
21
Pregabalin Approved, Investigational Phase 4 148553-50-8 5486971
22
Carbamazepine Approved, Investigational Phase 4 298-46-4 2554
23
Tiagabine Approved, Investigational Phase 4 115103-54-3 60648
24
Valproic acid Approved, Investigational Phase 4 99-66-1 3121
25
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
26 Methylprednisolone Acetate Phase 4
27 Anticonvulsants Phase 4
28
Naltrexone Approved, Investigational, Vet_approved Phase 3 16590-41-3 5360515
29
Hydrocortisone acetate Approved, Vet_approved Phase 3 50-03-3
30
Hydrocortisone Approved, Vet_approved Phase 3 50-23-7 5754
31
Ethanol Approved Phase 3 64-17-5 702
32
Sertraline Approved Phase 3 79617-96-2 68617
33
Acetylcholine Approved, Investigational Phase 3 51-84-3 187
34
Metformin Approved Phase 2, Phase 3 657-24-9 14219 4091
35 Narcotics Phase 3
36 neurokinin A Phase 3
37 Narcotic Antagonists Phase 3
38 Hydrocortisone hemisuccinate Phase 3
39 Hydrocortisone 17-butyrate 21-propionate Phase 3
40
Substance P Phase 3 33507-63-0 44359816
41 Enkephalin, Methionine Phase 3
42 Enkephalins Phase 3
43 Anesthetics Phase 3
44 abobotulinumtoxinA Phase 3
45 Botulinum Toxins Phase 3
46 Botulinum Toxins, Type A Phase 3
47 incobotulinumtoxinA Phase 3
48 Cholinergic Agents Phase 3
49 Muscarinic Antagonists Phase 3
50 Cholinergic Antagonists Phase 3

Interventional clinical trials:

(show top 50) (show all 180)
# 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 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
7 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
8 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
9 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
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 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
13 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
14 Effects of Social Gaze Training on Brain and Behavior in Fragile X Syndrome Recruiting NCT02616796 Phase 1, Phase 2
15 A Double-Blind, Placebo-Controlled Trial of Metformin in Individuals With Fragile X Syndrome (FXS) Recruiting NCT03862950 Phase 2 Placebo Medication;Metformin
16 Microbiota Transfer Therapy for Children With Both Pitt Hopkins Syndrome and Gastrointestinal Disorders Recruiting NCT04132427 Phase 2
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 Phase II Study of Stereotypes and Mental Retardation: Neurobiological Basis Suspended NCT00004300 Phase 2 bromocriptine;sertraline hydrochloride
19 PREDICTORS (Parents Resources for Decreasing the Incidence of Change Triggered Temper Outbursts) Completed NCT02567357 Phase 1
20 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
21 Cross-Species Multi-Modal Neuroimaging to Investigate GABA Physiology in Fragile X Syndrome Terminated NCT04308954 Phase 1 [18F]flumazenil
22 Stem Cell Therapy in Mental Retardation Withdrawn NCT02245724 Phase 1
23 Augmentative and Alternative Communication in Games With Virtual Reality in Intellectual Disabilities Unknown status NCT03033797
24 Conducting Functional Communication Training (FCT) With Young Children With Intellectual Disabilities in NHS Settings in the UK: A Feasibility Project Unknown status NCT02721394
25 Evaluation of Tools for the Simultaneous Detection of Point and Structural Mutations in Patients With Intellectual Disability Unknown status NCT02881333
26 Clinical Collaborative Research of Whole Genome Sequencing in the Detection of Rare Undiagnosed Genetic Diseases in Children in China Unknown status NCT03424772
27 Second Molecular Event Identification by Exome Sequencing for Intellectually Disabled Patients Carrying 16p13.11 CNVs Unknown status NCT03644797
28 A Pattern of Dental Treatment and Oral Rehabilitation for Adult Individuals With Intellectual Disability in General Anaesthesia Unknown status NCT03823976
29 Evaluating a Picture-based Computerised Assessment and Training Paradigm for Cognitive Behaviour Therapy Skills in Adults With Intellectual Disabilities Unknown status NCT01652963
30 The Additive Effect of Cognitive Behavioral Treatment - CBT to Conventional Weight Loss Intervention Program for Young Adults With Intellectual Disabilities Unknown status NCT01032369
31 Investigation of the Effectiveness of Video Based Games on Upper Extremity Functions in Mild Mental Retardation Diagnosed Cases Unknown status NCT03503955
32 Clinical Phenotyping and Characterization of Neural Networks and Cognitive Processes Involved in Mental Retardation X-linked Unknown status NCT02854956
33 Pain and Emotional Expression in Children With Autism or Mental Retardation Unknown status NCT01043822
34 Risk Evaluation of Fetal Nervous System and Neurodevelopment Disorders in Infants of Women Exposed to Zika Virus Infection During Pregnancy Unknown status NCT02943304
35 Evaluation of METAglut1 Diagnostic Test Performances in Patients With a Clinical Suspicion of GLUT1 Deficiency Syndrome Unknown status NCT03722212
36 Demographic Characteristics of Children Suffering From Mental Retardation or Cerebral Palsy in the Israeli Arab Community Unknown status NCT02214745
37 Non Invasive Prenatal Test of Rare Genetic Diseases: Application to Rare Intellectual Disabilities Unknown status NCT03688594
38 Genetic Disease Gene Identification Unknown status NCT00916903
39 Supervised Toothbrushing Programme and Oral Health Education for Intellectual Disabled Students: A Cluster Randomised Controlled Trial Unknown status NCT03234231
40 The Associative Memory in Autism Spectrum Disorders Without Intellectual Disability Unknown status NCT02279680
41 Psychotropic Medication and Psychotherapeutic Treatment of Adults With Intellectual Disabilities Completed NCT03558815
42 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
43 Evaluation of Family Networks (FaNs) for Children With Developmental Disorders and Delays Program: A Cluster Randomized Control Trial Completed NCT02792894
44 Parent Supports Intervention Project for Parents of Adults With Developmental Disabilities Completed NCT01981070
45 Support Staff's Interactions With Adults With Intellectual Disability Who Use Augmentative and Alternative Communication Completed NCT02099773
46 Efficacy of a Health Intervention for People With Intellectual Disabilities Completed NCT00597948
47 Psychomotor Therapy Effects Adaptive Behavior and Motor Proficiency of Adults With Intellectual Disability Completed NCT02746614
48 Molecular Characterization of Apparently Balanced Chromosomal Rearrangements by Next-generation Sequencing in 55 Patients With Intellectual Disability and/or Multiple Congenital Anomalies Completed NCT02451761
49 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
50 Mental Health Care Provision for Adults With Mental Retardation and a Psychiatric Diagnosis Completed NCT01695395

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

Inferred drug relations via UMLS 71 / NDF-RT 51 :


Buspirone
buspirone hydrochloride

Cochrane evidence based reviews: intellectual disability

Genetic Tests for Alacrima, Achalasia, and Mental Retardation Syndrome

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

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

Anatomical Context for Alacrima, Achalasia, and Mental Retardation Syndrome

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

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

Publications for Alacrima, Achalasia, and Mental Retardation Syndrome

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

(show top 50) (show all 14880)
# Title Authors PMID Year
1
Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction. 61 57 6
24035193 2013
2
Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders. 61 6
31616000 2019
3
De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism. 6 61
30661772 2019
4
De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures. 61 6
29961568 2018
5
Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A. 6 61
25920557 2015
6
Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing. 61 6
25167861 2014
7
Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease. 6
26539891 2015
8
Early developmental EEG and seizure phenotypes in a full gene deletion of ubiquitin protein ligase E3A rat model of Angelman syndrome. 61
33531368 2021
9
Dp71 contribution to the molecular scaffold anchoring aquaporine-4 channels in brain macroglial cells. 61
33247858 2021
10
SNAREs and developmental disorders. 61
32959907 2021
11
IQSEC2 disorder: A new disease entity or a Rett spectrum continuum? 61
33368194 2021
12
The eldest case of MICPCH with CASK mutation exhibiting gross motor regression. 61
33272775 2021
13
FMRP regulates the subcellular distribution of cortical dendritic spine density in a non-cell-autonomous manner. 61
33421563 2021
14
Astroglial FMRP modulates synaptic signaling and behavior phenotypes in FXS mouse model. 61
32970902 2021
15
Inhibiting glycolysis rescues memory impairment in an intellectual disability Gdi1-null mouse. 61
33309713 2021
16
Eslicarbazepine acetate response in intellectual disability population versus general population. 61
33131083 2021
17
Hemodynamic Response to Isometric Handgrip Exercise in Adults with Intellectual Disability. 61
32804901 2021
18
Clinical management of individuals with Intellectual Disability: The outbreak of Covid-19 pandemic as experienced in a clinical and research center Research in Developmental Disabilities. 61
33497856 2021
19
Does talking about end of life with adults with intellectual disability cause emotional discomfort or psychological harm? 61
33205606 2021
20
Perceptions of the rights and capabilities of people with intellectual disability in the United States. 61
33075851 2021
21
Guest Reviewers: Special Issue: College Students With Intellectual Disability. 61
33430624 2021
22
A systematic review of the behaviours associated with depression in people with severe-profound intellectual disability. 61
33426741 2021
23
An international study of public contact with people who have an intellectual disability. 61
33404100 2021
24
Academic Technologies for College Students With Intellectual Disability. 61
33355002 2021
25
Dominant variants in PRR12 result in unilateral or bilateral complex microphthalmia. 61
33314030 2021
26
Clinical and Genetic Characteristics of Splicing Variant in CYP27A1 in an Iranian Family with Cerebrotendinous Xanthomatosis. 61
33400472 2021
27
Characterization of the GABRB2-Associated Neurodevelopmental Disorders. 61
33325057 2021
28
Phenotypic spectrum of the RBM10-mediated intellectual disability and congenital malformation syndrome beyond classic TARP syndrome features. 61
33340101 2021
29
A case of CHOPS syndrome accompanied with moyamoya disease and systemic vasculopathy. 61
33248856 2021
30
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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 2511)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RAC3 NM_005052.3(RAC3):c.86C>T (p.Pro29Leu) SNV association 585004 rs1568018697 17:79990313-79990313 17:82032437-82032437
2 RAC3 NM_005052.3(RAC3):c.182A>T (p.Gln61Leu) SNV association 585005 rs1568018920 17:79990661-79990661 17:82032785-82032785
3 SOX6 NM_001367873.1(SOX6):c.878dup (p.Gly294fs) Duplication Pathogenic 977313 11:16133368-16133369 11:16111822-16111823
4 SYT1 NM_005639.3(SYT1):c.1098C>G (p.Asp366Glu) SNV Pathogenic 977145 12:79842733-79842733 12:79448953-79448953
5 ANKRD11 NM_013275.6(ANKRD11):c.2297_2300del (p.Lys766fs) Microsatellite Pathogenic 976186 16:89350650-89350653 16:89284242-89284245
6 SMARCC2 NM_001330288.2(SMARCC2):c.172C>T (p.Gln58Ter) SNV Pathogenic 977614 12:56581030-56581030 12:56187246-56187246
7 KDM5A NM_001042603.3(KDM5A):c.4048C>T (p.Arg1350Ter) SNV Pathogenic 806762 rs775280239 12:416138-416138 12:306972-306972
8 SLC6A8 NM_005629.4(SLC6A8):c.1145C>T (p.Pro382Leu) SNV Pathogenic 533700 rs1557045250 X:152959363-152959363 X:153693908-153693908
9 GDI1 NM_001493.3(GDI1):c.1173_1174insACATGAT (p.Asp392delinsThrTer) Insertion Pathogenic 976430 X:153670753-153670754 X:154442406-154442407
10 MECP2 NM_001110792.2(MECP2):c.1393C>T (p.Arg465Ter) SNV Pathogenic 143467 rs61753979 X:153295922-153295922 X:154030471-154030471
11 GPRC6A NC_000006.11:g.116734559_123648104del Deletion Pathogenic 978186 6:116734559-123648104
12 NSD1 NM_172349.2(NSD1):c.2145_2146CT[1] (p.Ser716fs) Microsatellite Pathogenic 159294 rs587784092 5:176638352-176638353 5:177211351-177211352
13 MED13L NM_015335.5(MED13L):c.2340_2343del (p.Thr781fs) Deletion Pathogenic 978879 12:116444112-116444115 12:116006307-116006310
14 KMT2D NM_003482.4(KMT2D):c.13491_13495del (p.Leu4498fs) Microsatellite Pathogenic 978874 12:49424993-49424997 12:49031210-49031214
15 KMT2A NM_001197104.2(KMT2A):c.654_679delinsTTTACT (p.Glu219fs) Indel Pathogenic 978873 11:118342528-118342553 11:118471813-118471838
16 KMT2A NM_001197104.2(KMT2A):c.1142dup (p.Ala383fs) Duplication Pathogenic 978872 11:118343010-118343011 11:118472295-118472296
17 KMT2A NM_001197104.2(KMT2A):c.3920dup (p.Gln1308fs) Duplication Pathogenic 978871 11:118352713-118352714 11:118481998-118481999
18 MED13L NM_015335.5(MED13L):c.442C>T (p.Arg148Ter) SNV Pathogenic 978877 12:116534511-116534511 12:116096706-116096706
19 MED13L NM_015335.5(MED13L):c.4123G>T (p.Glu1375Ter) SNV Pathogenic 978876 12:116424286-116424286 12:115986481-115986481
20 KMT2A NM_001197104.2(KMT2A):c.7975C>T (p.Arg2659Ter) SNV Pathogenic 978869 11:118374582-118374582 11:118503867-118503867
21 KMT2A NM_001197104.2(KMT2A):c.9714_9735del (p.Pro3239fs) Deletion Pathogenic 978868 11:118376320-118376341 11:118505605-118505626
22 KDM5C NM_004187.5(KDM5C):c.1464C>A (p.Cys488Ter) SNV Pathogenic 978951 X:53239977-53239977 X:53210795-53210795
23 MBD5 NM_001378120.1(MBD5):c.4648del (p.Gln1550fs) Deletion Pathogenic 978956 2:149247849-149247849 2:148490280-148490280
24 MBD5 NM_001378120.1(MBD5):c.1379_1389del (p.Ser460fs) Deletion Pathogenic 978957 2:149226890-149226900 2:148469321-148469331
25 MECP2 NM_001110792.2(MECP2):c.1124_1142del (p.Lys375fs) Deletion Pathogenic 978958 X:153296173-153296191 X:154030722-154030740
26 MYT1L NM_001303052.2(MYT1L):c.1533del (p.Cys511fs) Deletion Pathogenic 978960 2:1921062-1921062 2:1917290-1917290
27 POGZ NM_015100.4(POGZ):c.2345del (p.Cys782fs) Deletion Pathogenic 978964 1:151380606-151380606 1:151408130-151408130
28 POGZ NM_015100.4(POGZ):c.1079-20A>G SNV Pathogenic 978965 1:151397557-151397557 1:151425081-151425081
29 POGZ NM_015100.4(POGZ):c.2310C>G (p.Tyr770Ter) SNV Pathogenic 978966 1:151380641-151380641 1:151408165-151408165
30 KAT6A NM_006766.5(KAT6A):c.1786_1787del (p.Leu596fs) Deletion Pathogenic 978867 8:41805384-41805385 8:41947866-41947867
31 KAT6A NM_006766.5(KAT6A):c.4069C>T (p.Gln1357Ter) SNV Pathogenic 978866 8:41791669-41791669 8:41934151-41934151
32 KAT6B NM_012330.4(KAT6B):c.3349C>T (p.Gln1117Ter) SNV Pathogenic 450178 rs1554843977 10:76781966-76781966 10:75022208-75022208
33 KAT6A NM_006766.5(KAT6A):c.3703G>T (p.Glu1235Ter) SNV Pathogenic 978865 8:41792035-41792035 8:41934517-41934517
34 KAT6A NM_006766.5(KAT6A):c.1569C>A (p.Tyr523Ter) SNV Pathogenic 978864 8:41812843-41812843 8:41955325-41955325
35 KANSL1 NM_015443.4(KANSL1):c.1353G>A (p.Trp451Ter) SNV Pathogenic 978863 17:44172004-44172004 17:46094638-46094638
36 CYP2U1 NM_183075.3(CYP2U1):c.604G>A (p.Glu202Lys) SNV Pathogenic 979170 4:108866239-108866239 4:107945083-107945083
37 KANSL1 NM_015443.4(KANSL1):c.774_775insT (p.Gly259fs) Insertion Pathogenic 978861 17:44248735-44248736 17:46171369-46171370
38 SHANK3 NM_001372044.2(SHANK3):c.3325del (p.Ala1109fs) Deletion Pathogenic 978860 22:51159357-51159357 22:50720929-50720929
39 SHANK3 NM_001372044.2(SHANK3):c.3162_3165del (p.Phe1056fs) Deletion Pathogenic 978858 22:51159198-51159201 22:50720770-50720773
40 SHANK3 NM_001372044.2(SHANK3):c.4290_4291del (p.Val1432fs) Deletion Pathogenic 978857 22:51160326-51160327 22:50721898-50721899
41 SHANK3 NM_033517.1(SHANK3):c.3349C>T (p.Arg1117Ter) SNV Pathogenic 30560 rs387906932 22:51159610-51159610 22:50721182-50721182
42 RAI1 NM_030665.4(RAI1):c.4455_4456del (p.Ala1487fs) Deletion Pathogenic 978854 17:17700717-17700718 17:17797403-17797404
43 RAI1 NM_030665.4(RAI1):c.573delinsTACCCC (p.Gln191fs) Indel Pathogenic 978853 17:17696835-17696835 17:17793521-17793521
44 PURA NM_005859.5(PURA):c.675_676TG[1] (p.Val226fs) Microsatellite Pathogenic 424155 rs1064796830 5:139494441-139494442 5:140114856-140114857
45 NF1 NM_001042492.3(NF1):c.889-6_893del Deletion Pathogenic 978842 17:29527432-29527442 17:31200414-31200424
46 NF1 NM_000267.3(NF1):c.5425C>T (p.Arg1809Cys) SNV Pathogenic 208853 rs797045139 17:29654736-29654736 17:31327718-31327718
47 MED13L NM_015335.4(MED13L):c.5278C>T (p.Arg1760Ter) SNV Pathogenic 280198 rs886041448 12:116418641-116418641 12:115980836-115980836
48 MED13L NM_015335.4(MED13L):c.1704_1705AG[2] (p.Ser570fs) Microsatellite Pathogenic 221555 rs869025286 12:116446509-116446510 12:116008704-116008705
49 MED13L NM_015335.5(MED13L):c.173T>A (p.Leu58Ter) SNV Pathogenic 978839 12:116675410-116675410 12:116237605-116237605
50 KANSL1 NM_001193466.2(KANSL1):c.1042C>T (p.Arg348Ter) SNV Pathogenic 521688 rs1427624649 17:44248468-44248468 17:46171102-46171102

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 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

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

# Super pathways Score Top Affiliating Genes
1 11.58 CREBBP CAMK2B CAMK2A
2 11.53 CREBBP CAMK2B CAMK2A
3
Show member pathways
11.34 CREBBP CAMK2B CAMK2A
4
Show member pathways
11.28 CREBBP ARID1B ACTB
5
Show member pathways
10.96 CREBBP CAMK2B CAMK2A ACTB
6
Show member pathways
10.72 CREBBP 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 cytoplasm GO:0005737 10 GMPPA EEF1A2 DYRK1A DYNC1H1 DUSP29 DHX30
2 nucleus GO:0005634 9.8 EEF1A2 DYRK1A DUSP29 DDX3X CREBBP 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 9.16 DYNC1H1 DDX3X
2 regulation of neuron migration GO:2001222 8.96 CAMK2B CAMK2A
3 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 9.56 DYRK1A DYNC1H1 DHX30 DDX3X CHD2 CAMK2B
2 nucleotide binding GO:0000166 9.28 EEF1A2 DYRK1A DYNC1H1 DHX30 DDX3X CHD2
3 calmodulin-dependent protein kinase activity GO:0004683 9.16 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
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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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