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AAMR
MCID: ALC028
MIFTS: 62

Alacrima, Achalasia, and Mental Retardation Syndrome (AAMR)

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

About this section

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

Name: Alacrima, Achalasia, and Mental Retardation Syndrome 58 76 30 6 41 74
Intellectual Disability 45 41 74
Aamr 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth or in infancy


HPO:

33
alacrima, achalasia, and mental retardation syndrome:
Inheritance autosomal recessive inheritance


Classifications:

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


Sources

Summaries for Alacrima, Achalasia, and Mental Retardation Syndrome

About this section
OMIM : 58 Alacrima, achalasia, and mental retardation syndrome (AAMR) is an autosomal recessive disorder characterized by onset of these 3 main features at birth or in early infancy. More variable features include hypotonia, gait abnormalities, anisocoria, and visual or hearing deficits. The disorder shows similarity to the triple A syndrome (231550), but patients with AAMR do not have adrenal insufficiency (summary by Koehler et al., 2013). See also 300858 for a phenotypically similar disorder that shows X-linked inheritance. (615510)

MalaCards based summary : Alacrima, Achalasia, and Mental Retardation Syndrome, also known as intellectual disability, is related to syndromic intellectual disability and autosomal dominant non-syndromic intellectual disability, and has symptoms including lethargy and neurobehavioral manifestations. An important gene associated with Alacrima, Achalasia, and Mental Retardation Syndrome is GMPPA (GDP-Mannose Pyrophosphorylase A). The drugs Prednisolone and Zonisamide have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and bone, and related phenotypes are nystagmus and gait disturbance

UniProtKB/Swiss-Prot : 76 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.

Sources

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 1586)
# Related Disease Score Top Affiliating Genes
1 syndromic intellectual disability 34.2 DYRK1A IQSEC2 MED13L TCF4
2 autosomal dominant non-syndromic intellectual disability 33.8 GRIN1 TBC1D24 TCF4
3 iqsec2 33.5 IQSEC2 KDM5C
4 alpha thalassemia-x-linked intellectual disability syndrome 12.5
5 spastic paraplegia, intellectual disability, nystagmus, and obesity 12.5
6 developmental delay, intellectual disability, obesity, and dysmorphic features 12.4
7 non-syndromic x-linked intellectual disability 12.4
8 non-syndromic intellectual disability 12.4
9 syndromic x-linked intellectual disability snyder type 12.4
10 intellectual disability-developmental delay-contractures syndrome 12.4
11 dandy-walker malformation with intellectual disability, basal ganglia disease and seizures 12.4
12 autosomal dominant non-syndromic intellectual disability 5 12.4
13 autosomal dominant non-syndromic intellectual disability 1 12.4
14 autosomal dominant non-syndromic intellectual disability 3 12.4
15 autosomal dominant non-syndromic intellectual disability 4 12.4
16 autosomal dominant non-syndromic intellectual disability 9 12.4
17 muscular dystrophy, congenital, with cataracts and intellectual disability 12.4
18 hivep2-related intellectual disability 12.3
19 intellectual disability - athetosis - microphthalmia 12.3
20 corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome 12.3
21 syngap1-related intellectual disability 12.3
22 aniridia - ptosis - intellectual disability - familial obesity 12.3
23 hypoparathyroidism-intellectual disability-dysmorphism syndrome 12.3
24 intellectual disability-severe speech delay-mild dysmorphism syndrome 12.3
25 retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome 12.3
26 severe intellectual disability-progressive spastic diplegia syndrome 12.3
27 syngap1-related non-syndromic intellectual disability 12.3
28 white matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome 12.3
29 x-linked intellectual disability, siderius type 12.3
30 autosomal recessive non-syndromic intellectual disability 12.3
31 syndromic x-linked intellectual disability 7 12.3
32 polyneuropathy-intellectual disability-acromicria-premature menopause syndrome 12.3
33 syndromic x-linked intellectual disability 12 12.3
34 syndromic x-linked intellectual disability type 10 12.3
35 aortic arch anomaly - peculiar facies - intellectual disability 12.3
36 arachnodactyly - intellectual disability - dysmorphism 12.3
37 syndromic x-linked intellectual disability siderius type 12.3
38 syndromic x-linked intellectual disability nascimento type 12.3
39 brachydactyly-mesomelia-intellectual disability-heart defects syndrome 12.3
40 mbd25-related intellectual disability 12.3
41 cask-related intellectual disability 12.3
42 syndromic x-linked intellectual disability 12.3
43 ppp2r5d-related intellectual disability 12.3
44 x-linked intellectual disability, najm type 12.3
45 syndromic x-linked intellectual disability cabezas type 12.3
46 syndromic x-linked intellectual disability shashi type 12.3
47 autosomal dominant non-syndromic intellectual disability 2 12.3
48 autosomal dominant non-syndromic intellectual disability 6 12.3
49 blepharophimosis intellectual disability syndromes 12.3
50 syndromic x-linked intellectual disability abidi type 12.2

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

About this section

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

33 (show all 17)
# Description HPO Frequency HPO Source Accession
1 nystagmus 33 occasional (7.5%) HP:0000639
2 gait disturbance 33 occasional (7.5%) HP:0001288
3 hearing impairment 33 occasional (7.5%) HP:0000365
4 hyperkeratosis 33 occasional (7.5%) HP:0000962
5 strabismus 33 occasional (7.5%) HP:0000486
6 hypohidrosis 33 occasional (7.5%) HP:0000966
7 nasal speech 33 occasional (7.5%) HP:0001611
8 generalized hypotonia 33 occasional (7.5%) HP:0001290
9 orthostatic hypotension 33 occasional (7.5%) HP:0001278
10 sensory impairment 33 occasional (7.5%) HP:0003474
11 anisocoria 33 occasional (7.5%) HP:0009916
12 intellectual disability 33 HP:0001249
13 dysphagia 33 HP:0002015
14 global developmental delay 33 HP:0001263
15 feeding difficulties 33 HP:0011968
16 achalasia 33 HP:0002571
17 alacrima 33 HP:0000522

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
intellectual disability
autonomic dysfunction
delayed psychomotor development
gait abnormalities (in some patients)

Head And Neck Eyes:
alacrima
nystagmus (in some patients)
strabismus (in some patients)
visual problems (in some patients)
anisocoria (in some patients)

Muscle Soft Tissue:
hypotonia (in some patients)

Cardiovascular Vascular:
postural hypotension (in some patients)

Voice:
nasal voice (in some patients)

Laboratory Abnormalities:
normal serum transferrin profiles

Abdomen Gastrointestinal:
dysphagia
feeding difficulties
achalasia

Head And Neck Ears:
hearing impairment (in some patients)

Skin Nails Hair Skin:
hypohidrosis (in some patients)
hyperkeratosis (in some patients)

Neurologic Peripheral Nervous System:
sensory impairment (in some patients)

Endocrine Features:
no adrenal insufficiency

Clinical features from OMIM:

615510

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


lethargy, neurobehavioral manifestations

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

27 (show all 25)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-101 9.8 TCF4
2 Increased shRNA abundance (Z-score > 2) GR00366-A-116 9.8 TCF4
3 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.8 GRIN1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-122 9.8 TCF4
5 Increased shRNA abundance (Z-score > 2) GR00366-A-123 9.8 GRIN1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-126 9.8 GRIN1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-138 9.8 SLC2A1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-146 9.8 PURA
9 Increased shRNA abundance (Z-score > 2) GR00366-A-147 9.8 GRIN1 PURA SLC2A1 TCF4
10 Increased shRNA abundance (Z-score > 2) GR00366-A-152 9.8 SLC2A1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-176 9.8 SLC2A1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.8 TCF4
13 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.8 PURA
14 Increased shRNA abundance (Z-score > 2) GR00366-A-23 9.8 PURA
15 Increased shRNA abundance (Z-score > 2) GR00366-A-3 9.8 PURA
16 Increased shRNA abundance (Z-score > 2) GR00366-A-41 9.8 PURA SLC2A1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.8 SLC2A1 TCF4
18 Increased shRNA abundance (Z-score > 2) GR00366-A-45 9.8 GRIN1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-46 9.8 TCF4
20 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.8 TCF4
21 Increased shRNA abundance (Z-score > 2) GR00366-A-76 9.8 PURA TCF4
22 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.8 PURA
23 Increased shRNA abundance (Z-score > 2) GR00366-A-9 9.8 SLC2A1
24 Increased shRNA abundance (Z-score > 2) GR00366-A-90 9.8 SLC2A1
25 Increased cell death HMECs cells GR00103-A-0 9.35 CUL4B DYRK1A KDM5C PHF8 TCF4

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

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.9 BBS10 CUL4B DYRK1A GNB1 GRIN1 KDM5C
2 mortality/aging MP:0010768 9.73 BBS10 CUL4B DYRK1A GNB1 GRIN1 KDM5C
3 nervous system MP:0003631 9.4 BBS10 CUL4B DYRK1A GNB1 GRIN1 IL1RAPL1
Sources

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

About this section

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

(show top 50) (show all 468)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Prednisolone Approved, Vet_approved Phase 4,Phase 2,Phase 3 50-24-8 5755
2
Zonisamide Approved, Investigational Phase 4 68291-97-4 5734
3
Vigabatrin Approved Phase 4 68506-86-5, 60643-86-9 5665
4
Phenytoin Approved, Vet_approved Phase 4 57-41-0 1775
5
Nitrazepam Approved Phase 4 146-22-5 4506
6
Topiramate Approved Phase 4,Phase 3,Not Applicable 97240-79-4 5284627
7
Gabapentin Approved, Investigational Phase 4 60142-96-3 3446
8
Phenobarbital Approved, Investigational Phase 4 50-06-6 4763
9
Rufinamide Approved Phase 4 106308-44-5 129228
10
Felbamate Approved Phase 4 25451-15-4 3331
11
Lamotrigine Approved, Investigational Phase 4,Phase 3 84057-84-1 3878
12
Carbamazepine Approved, Investigational Phase 4 298-46-4 2554
13
Ethosuximide Approved Phase 4 77-67-8 3291
14
Valproic Acid Approved, Investigational Phase 4,Phase 3,Phase 2,Not Applicable 99-66-1 3121
15
Clobazam Approved, Illicit Phase 4,Phase 3 22316-47-8 2789
16
Methylprednisolone hemisuccinate Approved Phase 4,Phase 2,Phase 3 2921-57-5
17
Pregabalin Approved, Illicit, Investigational Phase 4 148553-50-8 5486971
18
Levetiracetam Approved, Investigational Phase 4 102767-28-2 441341
19
Prednisolone phosphate Approved, Vet_approved Phase 4,Phase 2,Phase 3 302-25-0
20
Oxcarbazepine Approved Phase 4 28721-07-5 34312
21
Acetazolamide Approved, Vet_approved Phase 4 59-66-5 1986
22
Tiagabine Approved, Investigational Phase 4 115103-54-3 60648
23
Clonazepam Approved, Illicit Phase 4 1622-61-3 2802
24
Methylprednisolone Approved, Vet_approved Phase 4,Phase 2,Phase 3 83-43-2 6741
25
Methylphenidate Approved, Investigational Phase 4,Phase 2 113-45-1 4158
26
Aripiprazole Approved, Investigational Phase 4,Phase 3,Phase 2 129722-12-9 60795
27
Dopamine Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 62-31-7, 51-61-6 681
28
Memantine Approved, Investigational Phase 4,Phase 2,Not Applicable 19982-08-2 4054
29
Milnacipran Approved, Investigational Phase 4 92623-85-3 65833
30
Norepinephrine Approved Phase 4 51-41-2 439260
31
Levomilnacipran Approved, Investigational Phase 4 96847-54-0
32
Guanfacine Approved, Investigational Phase 4 29110-47-2 3519
33
Lovastatin Approved, Investigational Phase 4,Phase 2 75330-75-5 53232
34
Celiprolol Approved, Investigational Phase 4 56980-93-9
35
Riluzole Approved, Investigational Phase 4 1744-22-5 5070
36
Risperidone Approved, Investigational Phase 4,Phase 3 106266-06-2 5073
37
Liraglutide Approved Phase 4,Phase 3 204656-20-2 44147092
38
Prednisolone hemisuccinate Experimental Phase 4,Phase 2,Phase 3 2920-86-7
39 Anticonvulsants Phase 4,Phase 3,Phase 2,Not Applicable
40 Methylprednisolone Acetate Phase 4,Phase 2,Phase 3
41 Prednisolone acetate Phase 4,Phase 2,Phase 3
42 Central Nervous System Depressants Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
43 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
44 Psychotropic Drugs Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
45 Neurotransmitter Uptake Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
46 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
47 Analgesics Phase 4,Phase 3,Phase 2,Phase 1
48 Analgesics, Non-Narcotic Phase 4,Phase 2
49 Antidepressive Agents Phase 4,Phase 3,Phase 2
50 Adrenergic Agents Phase 4,Phase 2,Not Applicable

Interventional clinical trials:

(show top 50) (show all 778)
# Name Status NCT ID Phase Drugs
1 Ketogenic Diet vs.Antiepileptic Drug Treatment in 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 Milnacipran in Autism and the Functional Locus Coeruleus and Noradrenergic Model of Autism Completed NCT01337700 Phase 4 Milnacipran;Placebo
4 Guanfacine for the Treatment of Hyperactivity in Pervasive Developmental Disorder Completed NCT01238575 Phase 4 extended-release guanfacine
5 Combining Lovastatin and a Parent-Implemented Language Intervention for Fragile X Syndrome Completed NCT02642653 Phase 4 Lovastatin
6 Phase IV Long-term Maintenance Study of Aripiprazole in the Treatment of Irritability Associated With Autistic Disorder Completed NCT01227668 Phase 4 Aripiprazole;Placebo
7 Celiprolol in Patients With Ehlers-Danlos Syndrome, Vascular Type Completed NCT00190411 Phase 4 celiprolol;Control
8 Riluzole in Fragile X Syndrome Completed NCT00895752 Phase 4 Riluzole
9 Safety and Clinical Outcomes in Hunter Syndrome Patients 5 Years of Age and Younger Receiving Idursulfase Therapy Completed NCT00607386 Phase 4
10 Efficacy and Safety of Memantine Hydrochloride in Enhancing the Cognitive Abilities of Young Adults With Down Syndrome Completed NCT01112683 Phase 4 Memantine;Placebo
11 Is There a Sensibility Increased in the Growth Hormone at Child With Prader-Willi Syndrome? Completed NCT01298180 Phase 4 Growth hormone (Genotonorm® or Omnitrope®)
12 The Psychiatric and Cognitive Phenotypes in Velocardiofacial Syndrome Recruiting NCT00768820 Phase 4 methylphenidate, fluoxetin, risperidone
13 Oxygen Versus Medical Air for Treatment of CSA in Prader Will Syndrome Recruiting NCT03031626 Phase 4
14 Long-term Evaluation on Height and Weight in Patients With MPS II Who Started Treatment at < 6 Years of Age Active, not recruiting NCT02455622 Phase 4 Elaprase for intravenous (IV) infusion
15 GH in Adults With PWS, Effect on Hypotonia Evaluated by Functional MRI, Relationship With Strength and Body Composition Active, not recruiting NCT03616509 Phase 4 Growth hormone;Placebo
16 Liraglutide Use in Prader-Willi Syndrome Terminated NCT01542242 Phase 4 Liraglutide
17 Clinical and Cost Effectiveness of Positive Behaviour Support: a Trial Unknown status NCT01680276 Phase 3
18 Repetitive Behavior Disorders in People With Severe Mental Retardation Unknown status NCT00491478 Phase 3 sertraline
19 Self-Injury: Diagnosis and Treatment Unknown status NCT00065936 Phase 3 Naltrexone hydrochloride
20 Efficacy of RAD001/Everolimus in Autism and NeuroPsychological Deficits in Children With Tuberous Sclerosis Complex Unknown status NCT01730209 Phase 2, Phase 3 Everolimus;Placebo
21 Magnesium Sulfate to Prevent Brain Injury in Premature Infants Unknown status NCT00065949 Phase 3 magnesium sulfate
22 Clinical Trial for Asses the Safety and Efficacy of Vitamin C and Vitamin E in Combination Versus Placebo for Treating Cognitive and Behavior Disorder in Children With Fragile X Syndrome Unknown status NCT02942498 Phase 3 Vitamin C 10mg/Kg Vitamin E 10 mg/Kg;Placebo
23 GWPCARE2 A Study to Investigate the Efficacy and Safety of Cannabidiol (GWP42003-P) in Children and Young Adults With Dravet Syndrome Unknown status NCT02224703 Phase 3 GWP42003-P;Placebo Control
24 Independent Studies of Dextromethorphan and of Donepezil Hydrochloride for Rett Syndrome Unknown status NCT00069550 Phase 3 dextromethorphan;donepezil hydrochloride
25 Growth Hormone Use in Adults With Prader-Willi Syndrome Unknown status NCT00444964 Phase 3 Nutropin AQ
26 Effect of Rimonabant on Weight Gain and Body Composition in Adults With Prader Willi Syndrome Unknown status NCT00603109 Phase 3 rimonabant;placebo
27 Vitamin E in Aging Persons With Down Syndrome Unknown status NCT00056329 Phase 3 Vitamin E;multivitamin;Placebo
28 Vibration and Cold for Pain Relief During Peripheral Intravenous Cannulation in Children With Intellectual Disability Completed NCT02434731 Phase 3
29 Atypical Neuroleptic Drugs in People With Mental Retardation/Developmental Delay Completed NCT00065273 Phase 3 risperidone;clozapine;olanzapine
30 A Study of the Safety and Effectiveness of Risperidone Versus Placebo for the Treatment of Conduct Disorder in Children With Mild, Moderate, or Borderline Mental Retardation Completed NCT00266552 Phase 3 risperidone
31 A Study of the Safety and Effectiveness of Risperidone for the Treatment of Conduct Disorder and Other Disruptive Behavior Disorders in Children Ages 5 to 12 With Mild, Moderate, or Borderline Mental Retardation Completed NCT00250354 Phase 3 Risperidone oral solution
32 Safety and Efficacy Study 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
33 Short-Term vs. Long-Term Valganciclovir Therapy for Symptomatic Congenital CMV Infections Completed NCT00466817 Phase 3 Valganciclovir
34 Study of Aripiprazole in the Treatment of Pervasive Developmental Disorders Completed NCT00870727 Phase 3 Aripiprazole oral product;Placebo oral capsule
35 Study of Aripiprazole in the Treatment of Children and Adolescents With Autistic Disorder (AD) Completed NCT00337571 Phase 3 Aripiprazole;Placebo
36 Study of Aripiprazole in the Treatment of Children and Adolescents With Autistic Disorder (AD) Completed NCT00332241 Phase 3 Aripiprazole;Placebo
37 Evaluating the Effectiveness of Aripiprazole and D-Cycloserine to Treat Symptoms Associated With Autism Completed NCT00198107 Phase 3 Aripiprazole;Placebo;D-cycloserine
38 Study of Aripiprazole in the Treatment of Serious Behavioral Problems in Children and Adolescents With Autistic Disorder (AD) Completed NCT00365859 Phase 3 Aripiprazole
39 Clinical Evaluation of BW430C in Epilepsy Completed NCT00395694 Phase 3 lamictal
40 Safety and Efficacy of Hunterase Completed NCT01645189 Phase 3
41 Efficacy and Safety Study of STX209 (Arbaclofen) for the Treatment of Social Withdrawal in Children With Fragile X Syndrome Completed NCT01325220 Phase 3 arbaclofen;arbaclofen;arbaclofen;Placebo
42 Efficacy and Safety Study of STX209 (Arbaclofen) for Social Withdrawal in Adolescents and Adults With Fragile X Syndrome Completed NCT01282268 Phase 3 arbaclofen;placebo
43 MD1003-AMN MD1003 in Adrenomyeloneuropathy Completed NCT02961803 Phase 2, Phase 3 MD1003 100 mg capsule;Placebo
44 A Two-Part Study to Investigate the Dose-Ranging Safety and Pharmacokinetics, Followed by the Efficacy and Safety of ZX008 (Fenfluramine Hydrochloride) Oral Solution as an Adjunctive Therapy in Children ≥2 Years Old and Young Adults With Dravet Syndrome Completed NCT02926898 Phase 3 ZX008 - 0.2 mg/kg/day;ZX008 - 0.4 mg/kg/day;ZX008 - 20 mg/day maximum dose;Matching Placebo
45 Study of Intrathecal Idursulfase-IT Administered in Conjunction With Elaprase® in Pediatric Patients With Hunter Syndrome and Early Cognitive Impairment Completed NCT02055118 Phase 2, Phase 3
46 Antiepileptic Efficacy Study of GWP42003-P in Children and Young Adults With Dravet Syndrome (GWPCARE1) Completed NCT02091375 Phase 3 GWP42003-P 20 mg/kg/day Dose;Placebo control
47 Acamprosate in Youth With Fragile X Syndrome Completed NCT01300923 Phase 3 Acamprosate
48 A Study of the Effectiveness and Safety of Risperidone Versus Placebo in the Treatment of Children With Autistic Disorder and Other Pervasive Developmental Disorders (PDD) Completed NCT00261508 Phase 3 risperidone
49 Extension of Study TKT024 Evaluating Long-Term Safety and Clinical Outcomes in MPS II Patients Receiving Idursulfase Completed NCT00630747 Phase 2, Phase 3
50 Stem Cell Transplant for Inborn Errors of Metabolism Completed NCT00176904 Phase 2, Phase 3 Busulfan, Cyclophosphamide, Antithymocyte Globulin

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

Inferred drug relations via UMLS 74 / NDF-RT 52 :


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 30 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:

42
Brain, Testes, Bone, Heart, Thyroid, Skin, Eye
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 3167)
# Title Authors Year
1
Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome. ( 30723320 )
2019
2
Mood, anxiety, and perceived quality of life in adults with epilepsy and intellectual disability. ( 30820944 )
2019
3
Do young people with Asperger syndrome or intellectual disability use social media and are they cyberbullied or cyberbullies in the same way as their peers? ( 30664408 )
2019
4
Invariance of parent ratings of attention deficit hyperactivity disorder symptoms for children with and without intellectual disability. ( 30156358 )
2019
5
Attention deficit hyperactivity disorder in genetically-determined intellectual disability. ( 30035503 )
2019
6
Emergency department utilization and monetary charges in adolescents with autism spectrum disorder, intellectual disability, and a population comparison group. ( 31081200 )
2019
7
The case for removing intellectual disability and autism from the Mental Health Act - ERRATUM. ( 31084631 )
2019
8
Intellectual disability and autism spectrum disorders 'on the fly': insights from Drosophila. ( 31088981 )
2019
9
Gender Differences in Social Inclusion of Youth with Autism and Intellectual Disability. ( 31053991 )
2019
10
The case for removing intellectual disability and autism from the Mental Health Act. ( 31014411 )
2019
11
Association of temporal lobe epilepsy with gambling disorder in a patient with mild intellectual disability and autism spectrum disorder. ( 30953956 )
2019
12
Newborn vitamin D levels in relation to autism spectrum disorders and intellectual disability: A case-control study in california. ( 30883046 )
2019
13
Parenting Stress in Mothers of Children With Autism Without Intellectual Disability. Mediation of Behavioral Problems and Coping Strategies. ( 30906274 )
2019
14
Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability. ( 30827496 )
2019
15
Transition-Age Medicaid Coverage for Adolescents With Autism and Adolescents With Intellectual Disability. ( 30835524 )
2019
16
An IQSEC2 Mutation Associated With Intellectual Disability and Autism Results in Decreased Surface AMPA Receptors. ( 30842726 )
2019
17
Novel Compound Heterozygous Mutations in the TRAPPC9 Gene in Two Siblings With Autism and Intellectual Disability. ( 30853973 )
2019
18
A Comparison of Video Prompting to Least-to-Most Prompting among Children with Autism and Intellectual Disability. ( 30771131 )
2019
19
Prenatal Exposure to Endocrine-disrupting Chemicals in Relation to Autism Spectrum Disorder and Intellectual Disability. ( 30789431 )
2019
20
Prevalence of bullying and perceived happiness in adolescents with learning disability, intellectual disability, ADHD, and autism spectrum disorder: In the Taiwan Birth Cohort Pilot Study. ( 30732217 )
2019
21
Male-Specific cAMP Signaling in the Hippocampus Controls Spatial Memory Deficits in a Mouse Model of Autism and Intellectual Disability. ( 30732858 )
2019
22
Microcephaly/Trigonocephaly, Intellectual Disability, Autism Spectrum Disorder, and Atypical Dysmorphic Features in a Boy with Xp22.31 Duplication. ( 30733660 )
2019
23
Evaluation of Factors Related to Prolonged Lengths of Stay for Patients With Autism With or Without Intellectual Disability. ( 30753733 )
2019
24
Assistive technology: Understanding the needs and experiences of individuals with autism spectrum disorder and/or intellectual disability in Ireland and the UK. ( 30668926 )
2019
25
A distinct neurodevelopmental syndrome with intellectual disability, autism spectrum disorder, characteristic facies, and macrocephaly is caused by defects in CHD8. ( 30670789 )
2019
26
A gene expression signature in developing Purkinje cells predicts autism and intellectual disability co-morbidity status. ( 30679692 )
2019
27
Chromosomal Microarray Analysis as a First-Tier Clinical Diagnostic Test in Patients With Developmental Delay/Intellectual Disability, Autism Spectrum Disorders, and Multiple Congenital Anomalies: A Prospective Multicenter Study in Korea. ( 30623622 )
2019
28
Stopping, rationalising or optimising antipsychotic drug treatment in people with intellectual disability and/or autism. ( 30567853 )
2019
29
Daily living skills in children with autism spectrum disorder and intellectual disability: A comparative study from Turkey. ( 30576945 )
2019
30
A novel nonsense homozygous variant in the NLGN1 gene found in a pair of monozygotic twin brothers with intellectual disability and autism. ( 30460678 )
2019
31
Child maltreatment in autism spectrum disorder and intellectual disability: results from a population-based sample. ( 30368827 )
2019
32
First episode psychosis and comorbid ADHD, autism and intellectual disability. ( 30384107 )
2019
33
Differences in visuospatial processing in individuals with nonverbal learning disability or autism spectrum disorder without intellectual disability. ( 30335415 )
2019
34
Sleep problems in adults with autism spectrum disorder and intellectual disability. ( 30273974 )
2019
35
Brief Report: Sibling Feelings Toward their Brother or Sister With or Without Autism or Intellectual Disability. ( 30043352 )
2019
36
Parent-reported early symptoms of autism spectrum disorder in children without intellectual disability who were diagnosed at school age. ( 29852752 )
2019
37
Cancer and breast cancer awareness interventions in an intellectual disability context: A review of the literature. ( 31104540 )
2019
38
Prevalence of cerebral palsy, intellectual disability, hearing loss, and blindness, National Health Interview Survey, 2009-2016. ( 30713095 )
2019
39
Effects of Dementia Care Mapping on well-being and quality of life of older people with intellectual disability: A quasi-experimental study. ( 30868692 )
2019
40
Nursing people with intellectual disability and dementia experiencing pain: An integrative review. ( 30786087 )
2019
41
Parent perspectives on perceived dental pain and dental caries in Saudi schoolchildren with intellectual disability. ( 31006887 )
2019
42
Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities (HIDEA syndrome). ( 30940925 )
2019
43
Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia. ( 31036918 )
2019
44
Reply: Novel GABRA2 variants in epileptic encephalopathy and intellectual disability with seizures. ( 31032848 )
2019
45
Novel GABRA2 variants in epileptic encephalopathy and intellectual disability with seizures. ( 31032849 )
2019
46
Dominant LMAN2L mutation causes intellectual disability with remitting epilepsy. ( 31020005 )
2019
47
Reanalysis of whole exome sequencing data in patients with epilepsy and intellectual disability/mental retardation. ( 30904718 )
2019
48
Compound heterozygous SZT2 mutations in two siblings with early-onset epilepsy, intellectual disability and macrocephaly. ( 30818181 )
2019
49
Lacosamide in patients with intellectual disability and refractory epilepsy. ( 30840220 )
2019
50
Neuronal mechanisms of mutations in SCN8A causing epilepsy or intellectual disability. ( 30615093 )
2019
Sources

Variations for Alacrima, Achalasia, and Mental Retardation Syndrome

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

76
# 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

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

6 (show top 50) (show all 633)
# Gene Variation Type Significance SNP ID Assembly Location
1 DPYD NM_000110.3(DPYD): c.1905+1G> A single nucleotide variant drug response rs3918290 GRCh37 Chromosome 1, 97915614: 97915614
2 DPYD NM_000110.3(DPYD): c.1905+1G> A single nucleotide variant drug response rs3918290 GRCh38 Chromosome 1, 97450058: 97450058
3 DPYD NM_000110.3(DPYD): c.1905+1G> A single nucleotide variant drug response rs3918290 NCBI36 Chromosome 1, 97688202: 97688202
4 CUL4B NM_003588.3(CUL4B): c.1162C> T (p.Arg388Ter) single nucleotide variant Pathogenic rs121434616 GRCh37 Chromosome X, 119678034: 119678034
5 CUL4B NM_003588.3(CUL4B): c.1162C> T (p.Arg388Ter) single nucleotide variant Pathogenic rs121434616 GRCh38 Chromosome X, 120544179: 120544179
6 MED12 NM_005120.2(MED12): c.2881C> T (p.Arg961Trp) single nucleotide variant Pathogenic rs80338758 GRCh37 Chromosome X, 70347217: 70347217
7 MED12 NM_005120.2(MED12): c.2881C> T (p.Arg961Trp) single nucleotide variant Pathogenic rs80338758 GRCh38 Chromosome X, 71127367: 71127367
8 SLC16A2 NM_006517.4(SLC16A2): c.1190T> C (p.Leu397Pro) single nucleotide variant Pathogenic rs122455132 GRCh37 Chromosome X, 73749067: 73749067
9 SLC16A2 NM_006517.4(SLC16A2): c.1190T> C (p.Leu397Pro) single nucleotide variant Pathogenic rs122455132 GRCh38 Chromosome X, 74529232: 74529232
10 ATRX NM_000489.4(ATRX): c.109C> T (p.Arg37Ter) single nucleotide variant Pathogenic rs122445108 GRCh37 Chromosome X, 76972632: 76972632
11 ATRX NM_000489.4(ATRX): c.109C> T (p.Arg37Ter) single nucleotide variant Pathogenic rs122445108 GRCh38 Chromosome X, 77717155: 77717155
12 MECP2 NM_004992.3(MECP2): c.419C> T (p.Ala140Val) single nucleotide variant Pathogenic/Likely pathogenic rs28934908 GRCh37 Chromosome X, 153296860: 153296860
13 MECP2 NM_004992.3(MECP2): c.419C> T (p.Ala140Val) single nucleotide variant Pathogenic/Likely pathogenic rs28934908 GRCh38 Chromosome X, 154031409: 154031409
14 MECP2 NM_004992.3(MECP2): c.916C> T (p.Arg306Cys) single nucleotide variant Pathogenic rs28935468 GRCh37 Chromosome X, 153296363: 153296363
15 MECP2 NM_004992.3(MECP2): c.916C> T (p.Arg306Cys) single nucleotide variant Pathogenic rs28935468 GRCh38 Chromosome X, 154030912: 154030912
16 MECP2 NM_004992.3(MECP2): c.502C> T (p.Arg168Ter) single nucleotide variant Pathogenic rs61748421 GRCh37 Chromosome X, 153296777: 153296777
17 MECP2 NM_004992.3(MECP2): c.502C> T (p.Arg168Ter) single nucleotide variant Pathogenic rs61748421 GRCh38 Chromosome X, 154031326: 154031326
18 VPS13B NM_017890.4(VPS13B): c.11314C> T (p.Gln3772Ter) single nucleotide variant Pathogenic rs386834061 GRCh37 Chromosome 8, 100880540: 100880540
19 VPS13B NM_017890.4(VPS13B): c.11314C> T (p.Gln3772Ter) single nucleotide variant Pathogenic rs386834061 GRCh38 Chromosome 8, 99868312: 99868312
20 VPS13B NM_017890.4(VPS13B): c.1219C> T (p.Gln407Ter) single nucleotide variant Pathogenic rs386834070 GRCh37 Chromosome 8, 100146872: 100146872
21 VPS13B NM_017890.4(VPS13B): c.1219C> T (p.Gln407Ter) single nucleotide variant Pathogenic rs386834070 GRCh38 Chromosome 8, 99134644: 99134644
22 PHC1 NM_004426.2(PHC1): c.2974C> T (p.Leu992Phe) single nucleotide variant Pathogenic/Likely pathogenic rs587777036 GRCh37 Chromosome 12, 9092014: 9092014
23 PHC1 NM_004426.2(PHC1): c.2974C> T (p.Leu992Phe) single nucleotide variant Pathogenic/Likely pathogenic rs587777036 GRCh38 Chromosome 12, 8939418: 8939418
24 HCFC1 NM_005334.2(HCFC1): c.218C> T (p.Ala73Val) single nucleotide variant Pathogenic rs397515486 GRCh37 Chromosome X, 153230153: 153230153
25 HCFC1 NM_005334.2(HCFC1): c.218C> T (p.Ala73Val) single nucleotide variant Pathogenic rs397515486 GRCh38 Chromosome X, 153964702: 153964702
26 GMPPA NM_013335.3(GMPPA): c.295C> T (p.Arg99Ter) single nucleotide variant Pathogenic rs397518460 GRCh37 Chromosome 2, 220366625: 220366625
27 GMPPA NM_013335.3(GMPPA): c.295C> T (p.Arg99Ter) single nucleotide variant Pathogenic rs397518460 GRCh38 Chromosome 2, 219501903: 219501903
28 GMPPA NM_013335.3(GMPPA): c.1000A> C (p.Thr334Pro) single nucleotide variant Pathogenic rs397518461 GRCh37 Chromosome 2, 220370982: 220370982
29 GMPPA NM_013335.3(GMPPA): c.1000A> C (p.Thr334Pro) single nucleotide variant Pathogenic rs397518461 GRCh38 Chromosome 2, 219506260: 219506260
30 GMPPA NM_013335.3(GMPPA): c.545G> A (p.Gly182Asp) single nucleotide variant Pathogenic rs397518462 GRCh37 Chromosome 2, 220368860: 220368860
31 GMPPA NM_013335.3(GMPPA): c.545G> A (p.Gly182Asp) single nucleotide variant Pathogenic rs397518462 GRCh38 Chromosome 2, 219504138: 219504138
32 GMPPA NM_013335.3(GMPPA): c.210delA (p.Ala71Profs) deletion Pathogenic rs886037654 GRCh37 Chromosome 2, 220366269: 220366269
33 GMPPA NM_013335.3(GMPPA): c.210delA (p.Ala71Profs) deletion Pathogenic rs886037654 GRCh38 Chromosome 2, 219501547: 219501547
34 GMPPA GMPPA, TRP214TER single nucleotide variant Pathogenic
35 TCF4 NM_001083962.1(TCF4): c.514_517delAAAG (p.Lys172Phefs) deletion Pathogenic rs398123561 GRCh37 Chromosome 18, 53017622: 53017625
36 TCF4 NM_001083962.1(TCF4): c.514_517delAAAG (p.Lys172Phefs) deletion Pathogenic rs398123561 GRCh38 Chromosome 18, 55350391: 55350394
37 FOXG1 NM_005249.4(FOXG1): c.471G> T (p.Lys157Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs398124205 GRCh37 Chromosome 14, 29236956: 29236956
38 FOXG1 NM_005249.4(FOXG1): c.471G> T (p.Lys157Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs398124205 GRCh38 Chromosome 14, 28767750: 28767750
39 EEF1A2 NM_001958.3(EEF1A2): c.208G> A (p.Gly70Ser) single nucleotide variant Pathogenic rs587777162 GRCh37 Chromosome 20, 62127325: 62127325
40 EEF1A2 NM_001958.3(EEF1A2): c.208G> A (p.Gly70Ser) single nucleotide variant Pathogenic rs587777162 GRCh38 Chromosome 20, 63495972: 63495972
41 AHDC1 NM_001029882.3(AHDC1): c.2373_2374del (p.Cys791Trpfs) deletion Pathogenic rs587779766 GRCh37 Chromosome 1, 27876253: 27876254
42 AHDC1 NM_001029882.3(AHDC1): c.2373_2374del (p.Cys791Trpfs) deletion Pathogenic rs587779766 GRCh38 Chromosome 1, 27549742: 27549743
43 AHDC1 NM_001029882.3(AHDC1): c.2898del (p.Tyr967Thrfs) deletion Pathogenic rs587779767 GRCh37 Chromosome 1, 27875729: 27875729
44 AHDC1 NM_001029882.3(AHDC1): c.2898del (p.Tyr967Thrfs) deletion Pathogenic rs587779767 GRCh38 Chromosome 1, 27549218: 27549218
45 AHDC1 NM_001029882.3(AHDC1): c.2547del (p.Ser850Profs) deletion Pathogenic rs587779768 GRCh37 Chromosome 1, 27876080: 27876080
46 AHDC1 NM_001029882.3(AHDC1): c.2547del (p.Ser850Profs) deletion Pathogenic rs587779768 GRCh38 Chromosome 1, 27549569: 27549569
47 PURA NM_005859.4(PURA): c.812_814delTCT (p.Phe271del) deletion Pathogenic rs587782991 GRCh38 Chromosome 5, 140114993: 140114995
48 PURA NM_005859.4(PURA): c.812_814delTCT (p.Phe271del) deletion Pathogenic rs587782991 GRCh37 Chromosome 5, 139494578: 139494580
49 PURA NM_005859.4(PURA): c.307_308delTC (p.Ser103Hisfs) deletion Pathogenic rs587782992 GRCh38 Chromosome 5, 140114488: 140114489
50 PURA NM_005859.4(PURA): c.307_308delTC (p.Ser103Hisfs) deletion Pathogenic rs587782992 GRCh37 Chromosome 5, 139494073: 139494074

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

7 (show top 50) (show all 230)
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 14809 1 110328830 110367887 Amplification AHCYL1 Intellectual disability
2 18404 1 145479805 145564639 Amplification BCL9 Intellectual disability
3 20790 1 154318992 154376502 Deletion LMNA Intellectual disability
4 25568 1 191357783 191487679 Deletion CDC73 Intellectual disability
5 26008 1 195504030 195714208 Amplification CRB1 Intellectual disability
6 26062 1 196392816 196555392 Deletion NEK7 Intellectual disability
7 27599 1 21005560 21375927 Deletion EIF4G3 Intellectual disability
8 29199 1 228844880 228896351 Amplification COG2 Intellectual disability
9 29770 1 235537560 237086860 Deletion Intellectual disability
10 33809 1 48460990 48486903 Deletion SLC5A9 Intellectual disability
11 34281 1 54291861 54350780 Deletion C1orf83 Intellectual disability
12 35404 1 63278601 174979260 Duplication Intellectual disability
13 35871 1 68336738 68470841 Amplification GPR177 Intellectual disability
14 36503 1 76466419 77200494 Duplication Intellectual disability
15 37402 1 90483825 90786224 Duplication Intellectual disability
16 38249 10 100208866 100985609 Amplification HPSE2 Intellectual disability
17 39670 10 118177413 118227458 Amplification PNLIPRP3 Intellectual disability
18 40487 10 128662416 129042087 Deletion Intellectual disability
19 41143 10 13725711 14412872 Deletion FRMD4A Intellectual disability
20 42897 10 42100000 46100000 Deletion ZNF487 Intellectual disability
21 43203 10 45480000 51585000 Deletion Intellectual disability
22 43209 10 45512000 51585000 Deletion Intellectual disability
23 43225 10 45612000 51585000 Deletion Intellectual disability
24 43250 10 45927753 51581847 Deletion Intellectual disability
25 43254 10 45947671 51263703 Deletion Intellectual disability
26 43263 10 45979000 56907000 Deletion Intellectual disability
27 43292 10 46100000 53300000 Deletion Intellectual disability
28 43382 10 46384979 51265056 Deletion Intellectual disability
29 43389 10 46384979 52085077 Deletion Intellectual disability
30 43411 10 46400346 51237832 Deletion Intellectual disability
31 43734 10 48871525 50765047 Deletion Intellectual disability
32 43745 10 48941000 52218000 Deletion Intellectual disability
33 43760 10 49062854 52062367 Deletion Intellectual disability
34 43770 10 49121974 50641724 Deletion Intellectual disability
35 43868 10 50239677 50581445 Duplication Intellectual disability
36 43876 10 50334496 50417153 Deletion ERCC6 Intellectual disability
37 49425 11 106880543 106941637 Amplification ALKBH8 Intellectual disability
38 49436 11 106967286 107042715 Amplification ELMOD1 Intellectual disability
39 51015 11 121813520 134447248 Deletion Intellectual disability
40 51445 11 12633728 121813520 Deletion Intellectual disability
41 51830 11 131586860 131711926 Amplification HNT Intellectual disability
42 52967 11 22232079 25091772 Deletion Intellectual disability
43 55056 11 48800000 51400000 Duplication Intellectual disability
44 58769 11 6934067 9220605 Duplication ZNF214 Intellectual disability
45 59763 11 77603989 77806414 Amplification GAB2 Intellectual disability
46 61307 11 98397080 99732683 Amplification CNTN5 Intellectual disability
47 66448 12 29384845 29425410 Amplification ERGIC2 Intellectual disability
48 66460 12 29545023 29828959 Amplification TMTC1 Intellectual disability
49 66846 12 33200000 35400000 Duplication Intellectual disability
50 71529 12 7138290 7153069 Deletion C1RL Intellectual disability
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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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 glutamatergic synapse GO:0098978 9.26 ATP2B3 GRIN1 IL1RAPL1 PURA
2 dendrite GO:0030425 9.1 DYRK1A GNB1 GRIN1 IL1RAPL1 PURA SHANK3

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

# Name GO ID Score Top Affiliating Genes
1 positive regulation of excitatory postsynaptic potential GO:2000463 8.62 GRIN1 SHANK3

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.89 ATP2B3 BBS10 CUL4B DYRK1A GMPPA GNB1
2 histone demethylase activity GO:0032452 9.16 KDM5C PHF8
3 protein self-association GO:0043621 8.92 DYRK1A SHANK3 SLC2A1 TCF4
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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 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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