AMRS
MCID: ART103
MIFTS: 40

Arthrogryposis, Mental Retardation, and Seizures (AMRS)

Categories: Fetal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Arthrogryposis, Mental Retardation, and Seizures

MalaCards integrated aliases for Arthrogryposis, Mental Retardation, and Seizures:

Name: Arthrogryposis, Mental Retardation, and Seizures 56 73 36 29 6 39 71
Amrs 56 73
Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome 58
Slc35a3-Cdg 58

Characteristics:

Orphanet epidemiological data:

58
autism spectrum disorder-epilepsy-arthrogryposis syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
one family has been reported (last curated december 2013)
onset of contractures in utero
seizure onset between 3 and 11 years


HPO:

31
arthrogryposis, mental retardation, and seizures:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis


Summaries for Arthrogryposis, Mental Retardation, and Seizures

KEGG : 36 Arthrogryposis, mental retardation, and seizures (AMRS) is a neuroskeletal disorder comprising autism spectrum disorder (ASD), epilepsy, and arthrogryposis. Mutations in the SLC35A3 gene are associated with AMRS. The gene encodes a UDP-GlcNAc transporter, and the mutations abolish its activity.

MalaCards based summary : Arthrogryposis, Mental Retardation, and Seizures, also known as amrs, is related to alopecia-mental retardation syndrome 1 and alopecia intellectual disability syndrome 2. An important gene associated with Arthrogryposis, Mental Retardation, and Seizures is SLC35A3 (Solute Carrier Family 35 Member A3). The drugs Dopamine and Methylphenidate have been mentioned in the context of this disorder. Affiliated tissues include kidney, heart and bone, and related phenotypes are autistic behavior and intellectual disability, mild

UniProtKB/Swiss-Prot : 73 Arthrogryposis, mental retardation, and seizures: A disease characterized by arthrogryposis, mental retardation, autism spectrum disorder, and epilepsy. Additional features include limb malformations, distal joint involvement, microcephaly, retromicrognathia, and general muscle hypotonia.

More information from OMIM: 615553

Related Diseases for Arthrogryposis, Mental Retardation, and Seizures

Graphical network of the top 20 diseases related to Arthrogryposis, Mental Retardation, and Seizures:



Diseases related to Arthrogryposis, Mental Retardation, and Seizures

Symptoms & Phenotypes for Arthrogryposis, Mental Retardation, and Seizures

Human phenotypes related to Arthrogryposis, Mental Retardation, and Seizures:

58 31 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 autistic behavior 58 31 obligate (100%) Obligate (100%) HP:0000729
2 intellectual disability, mild 58 31 frequent (33%) Frequent (79-30%) HP:0001256
3 knee dislocation 58 31 frequent (33%) Frequent (79-30%) HP:0004976
4 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
5 hip dysplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001385
6 intellectual disability, moderate 58 31 occasional (7.5%) Occasional (29-5%) HP:0002342
7 intellectual disability, severe 58 31 occasional (7.5%) Occasional (29-5%) HP:0010864
8 hip dislocation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002827
9 absence seizure 58 31 occasional (7.5%) Occasional (29-5%) HP:0002121
10 hammertoe 58 31 occasional (7.5%) Occasional (29-5%) HP:0001765
11 intellectual disability 31 HP:0001249
12 seizures 31 HP:0001250
13 global developmental delay 31 HP:0001263
14 microcephaly 31 HP:0000252
15 arthrogryposis multiplex congenita 31 HP:0002804
16 generalized hypotonia 31 HP:0001290
17 microretrognathia 31 HP:0000308
18 camptodactyly of finger 31 HP:0100490

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Head:
microcephaly

Head And Neck Face:
microretrognathia

Muscle Soft Tissue:
hypotonia

Skeletal:
joint contractures
arthrogryposis

Neurologic Behavioral Psychiatric Manifestations:
autism spectrum disorder

Skeletal Pelvis:
hip dislocation
dysplasia of the acetabulae

Skeletal Limbs:
knee dislocation

Neurologic Central Nervous System:
mental retardation
delayed psychomotor development
delayed fine motor skills
seizures, atypical absence

Skeletal Hands:
flexion contractures of the fingers
deviation of the distal phalanges
swan-neck deformities of the distal phalanges

Skeletal Feet:
deviation of the distal phalanges
swan-neck deformities of the distal phalanges

Clinical features from OMIM:

615553

Drugs & Therapeutics for Arthrogryposis, Mental Retardation, and Seizures

Drugs for Arthrogryposis, Mental Retardation, and Seizures (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 26)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
2
Methylphenidate Approved, Investigational Phase 4 113-45-1 4158
3
Amphetamine Approved, Illicit, Investigational Phase 4 300-62-9 5826 3007
4 Sympathomimetics Phase 4
5 Neurotransmitter Agents Phase 4
6 Central Nervous System Stimulants Phase 4
7 Dopamine Agents Phase 4
8 Lisdexamfetamine Dimesylate Phase 4
9 Autonomic Agents Phase 4
10 Atomoxetine Hydrochloride Phase 4
11 Dopamine Uptake Inhibitors Phase 4
12 Adrenergic Agents Phase 4
13
Guaifenesin Approved, Investigational, Vet_approved 93-14-1 3516
14 Anti-Retroviral Agents
15 Antiviral Agents
16 Anti-Bacterial Agents
17 Antibiotics, Antitubercular
18 Analgesics
19 Anti-Infective Agents
20 Cola
21 Altanserin
22 N-Methyl-3,4-methylenedioxyamphetamine
23 Serotonin Agents
24 Chlorpheniramine, phenylpropanolamine drug combination
25 Serotonin Receptor Agonists
26
Serotonin Investigational, Nutraceutical 50-67-9 5202

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Evaluation of Pharmacokinetics and Profile of Clinical Response of Subacute Lisdexamfetamine Dimesylate (Vyvanse) Treatment vs. Clinical Response to Subacute Immediate Release Mixed Amphetamine Salt Therapy in Adult ADHD Completed NCT01070394 Phase 4 LDX Treatment
2 AMORCYTE MYOCARDIAL REPAIR STUDY- A Phase I Trial of Intra-coronary Infusion of Bone Marrow Derived Autologous CD34+ Selected Cells in Patients With Acute Myocardial Infarction. (AMRS) Completed NCT00313339 Phase 1 Intra-coronary infusion
3 Modified Directly Observed Antiretroviral Therapy (M-DART): An Intensive, Nurse-directed, Home-centered, Treatment Strategy to Reduce Mortality and Loss to Follow-up in High-risk HIV-infected Patients Initiating Antiretroviral Therapy Unknown status NCT01985269
4 Water Exchange Colonoscopy Decreased Adenoma Miss Rates in the Right and Proximal Colon: An Observational Study Using A Tandem Colonoscopy Approach Completed NCT03832322
5 Optimizing Linkage and Retention to Hypertension Care in Rural Kenya Completed NCT01844596
6 Investigation of Serotonin Neurotransmission in "Ecstasy" Users Employing Combined Dexfenfluramine Challenge and Positron Emission Tomography: a Functional Probe to Assess MDMA Neurotoxicity Completed NCT01296802 dexfenfluramine
7 Exercise and Alterations in Pain Sensitivity Terminated NCT01351558

Search NIH Clinical Center for Arthrogryposis, Mental Retardation, and Seizures

Genetic Tests for Arthrogryposis, Mental Retardation, and Seizures

Genetic tests related to Arthrogryposis, Mental Retardation, and Seizures:

# Genetic test Affiliating Genes
1 Arthrogryposis, Mental Retardation, and Seizures 29 SLC35A3

Anatomical Context for Arthrogryposis, Mental Retardation, and Seizures

MalaCards organs/tissues related to Arthrogryposis, Mental Retardation, and Seizures:

40
Kidney, Heart, Bone, Colon, T Cells, Spinal Cord, Liver

Publications for Arthrogryposis, Mental Retardation, and Seizures

Articles related to Arthrogryposis, Mental Retardation, and Seizures:

(show top 50) (show all 100)
# Title Authors PMID Year
1
Mutations in SLC35A3 cause autism spectrum disorder, epilepsy and arthrogryposis. 56 6
24031089 2013
2
Evaluation of the Beckman Coulter DxC 700 AU chemistry analyzer. 61
31872016 2020
3
Poor access to kidney disease management services in susceptible patient populations in rural Australia is associated with increased aeromedical retrievals for acute renal care. 61
31821680 2019
4
Application of Micro Quartz Tuning Fork in Trace Gas Sensing by Use of Quartz-Enhanced Photoacoustic Spectroscopy. 61
31795247 2019
5
Piezo-enhanced acoustic detection module for mid-infrared trace gas sensing using a grooved quartz tuning fork. 61
31878699 2019
6
AMR monitoring in microvascular decompression for hemifacial spasm: 115 cases report. 61
31648966 2019
7
Genome-wide allele-specific methylation is enriched at gene regulatory regions in a multi-generation pedigree from the Norfolk Island isolate. 61
31594537 2019
8
Identification of antibiotic mycelia residues in cottonseed meal using Fourier transform near-infrared microspectroscopic imaging. 61
31151602 2019
9
Complete genome arrangement revealed the emergence of a poultry origin superbug Citrobacter portucalensis strain NR-12. 61
31185330 2019
10
Water exchange colonoscopy decreased adenoma miss rates compared with literature data and local data with CO2 insufflation: an observational study. 61
31412789 2019
11
Extracorporeal photopheresis for the treatment of graft rejection in 33 adult kidney transplant recipients. 61
31383541 2019
12
Fast structured illumination microscopy with reflectance disturbance resistibility and improved accuracy. 61
31510227 2019
13
Efficient ten-gene analysis of NSCLC tissue samples by next-generation sequencing. 61
30876750 2019
14
Patterns of amenable child mortality over time in 34 member countries of the Organisation for Economic Co-operation and Development (OECD): evidence from a 15-year time trend analysis (2001-2015). 61
31122996 2019
15
Antimicrobial resins with quaternary ammonium salts as a supplement to combat the antibiotic resistome in drinking water treatment plants. 61
30639809 2019
16
Effect of recipient gender and donor-specific antibodies on antibody-mediated rejection after heart transplantation. 61
30286278 2019
17
Actin turnover ensures uniform tension distribution during cytokinetic actomyosin ring contraction. 61
30759055 2019
18
Milestone Ratings and Supervisory Role Categorizations Swim Together, but Is the Water Muddy? 61
29925038 2019
19
ABO-incompatible liver transplantation for children under 2 years of age: A case report and a single-center review. 61
30341789 2019
20
A State-of-Art Review on Multi-Drug Resistant Pathogens in Foods of Animal Origin: Risk Factors and Mitigation Strategies. 61
31555256 2019
21
Assessing Oromotor Capacity in ALS: The Effect of a Fixed-Target Task on Lip Biomechanics. 61
31866935 2019
22
Gene expression profiles for predicting antibody‑mediated kidney allograft rejection: Analysis of GEO datasets. 61
30066908 2018
23
Adenoma miss rate determined by very shortly repeated colonoscopy: Retrospective analysis of data from a single tertiary medical center in China. 61
30235675 2018
24
New technologies improve adenoma detection rate, adenoma miss rate, and polyp detection rate: a systematic review and meta-analysis. 61
29614263 2018
25
[Mortality in Colombia traffic accidents. Comparative study with other countries]. 61
29967318 2018
26
A longitudinal examination of the asthma medication ratio in children. 61
29939504 2018
27
Identification of antibiotic mycelia residue in protein rich feed using on near-infrared microscopy imaging. 61
29388906 2018
28
Intraoperative monitoring of Z-L response (ZLR) and abnormal muscle response (AMR) during microvascular decompression for hemifacial spasm. Interpreting the role of ZLR. 61
29344780 2018
29
Midterm Outcomes of 12 Renal Transplant Recipients Treated With Eculizumab to Prevent Atypical Hemolytic Syndrome Recurrence. 61
28858176 2017
30
Infant mortality in white-faced capuchins: The impact of alpha male replacements. 61
29140543 2017
31
Physical activity, body functions and disability among middle-aged and older Spanish adults. 61
28720075 2017
32
A new strategy for calculating the risk of ovarian malignancy algorithm (ROMA). 61
28107166 2017
33
Adenoma miss rates associated with a 3-minute versus 6-minute colonoscopy withdrawal time: a prospective, randomized trial. 61
27931951 2017
34
Antimicrobial-resistant sexually transmitted infections: gonorrhoea and Mycoplasma genitalium. 61
28072403 2017
35
Effect of Pretransplant Continuous-Flow Left Ventricular Assist Devices on Cellular and Antibody-Mediated Rejection and Subsequent Allograft Outcomes. 61
27939231 2017
36
Factors Promoting a Good Outcome in a Second Microvascular Decompression Operation When Hemifacial Spasm is Not Relieved After the Initial Operation. 61
27923748 2017
37
Effectiveness and Duration of Effect of Open-Label Lisdexamfetamine Dimesylate in Adults With ADHD. 61
23657761 2017
38
Hyperactivity of Hypothalamic-Pituitary-Adrenal Axis Due to Dysfunction of the Hypothalamic Glucocorticoid Receptor in Sigma-1 Receptor Knockout Mice. 61
28932185 2017
39
Kidney Transplantation Results in Very Highly Sensitized Patients Included in a Virtual Crossmatch Program: Analysis of Kidney Pairs. 61
27932102 2016
40
LDLR, ApoB and ApoE genes polymorphisms and classical risk factors in premature coronary artery disease. 61
27236033 2016
41
The Secondary Quality Indicator to Improve Prediction of Adenoma Miss Rate Apart from Adenoma Detection Rate. 61
26809333 2016
42
Efficacy of Combined Plasmapheresis and Intravenous Immunoglobulin Therapy in Kidney Transplant Patients With Chronic Antibody-mediated Rejection. 61
27225723 2016
43
HLA-DQ Mismatches and Rejection in Kidney Transplant Recipients. 61
27034399 2016
44
Trends in amenable mortality rate in the Mongolian population, 2007-2014. 61
27019528 2016
45
Chronic groin pain, discomfort and physical disability after recurrent groin hernia repair: impact of anterior and posterior mesh repair. 61
26590934 2016
46
Effect of folic acid in a modified experimental model of anorectal malformations adriamycin-induced in rats. 61
26840352 2016
47
A novel quality scoring system for the evaluation of individual colonoscopy: A multicenter retrospective study. 61
26138256 2016
48
Free-running EMG monitoring during microvascular decompression for hemifacial spasm. 61
26143309 2015
49
Is it possible folic acid reduce anorectal malformations ethylenethiourea induced in rats? 61
26352330 2015
50
Within-host diversity of MRSA antimicrobial resistances. 61
25957384 2015

Variations for Arthrogryposis, Mental Retardation, and Seizures

ClinVar genetic disease variations for Arthrogryposis, Mental Retardation, and Seizures:

6 (show all 23) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SLC35A3 NM_012243.3(SLC35A3):c.514C>T (p.Gln172Ter)SNV Pathogenic 89029 rs398122524 1:100476969-100476969 1:100011413-100011413
2 SLC35A3 NM_012243.3(SLC35A3):c.886A>G (p.Ser296Gly)SNV Pathogenic 89030 rs141952252 1:100483370-100483370 1:100017814-100017814
3 SLC35A3 NC_000001.10:g.(?_100472570)_(100477109_?)deldeletion Pathogenic 583744 1:100472570-100477109 1:100007014-100011553
4 SLC35A3 NM_012243.3(SLC35A3):c.680dup (p.Asp227fs)duplication Pathogenic 575751 rs866803539 1:100480902-100480903 1:100015346-100015347
5 SLC35A3 NM_012243.3(SLC35A3):c.762_763dup (p.Gly255fs)duplication Pathogenic 642862 1:100483244-100483245 1:100017688-100017689
6 SLC35A3 NM_012243.3(SLC35A3):c.74G>A (p.Arg25His)SNV Uncertain significance 661077 1:100459184-100459184 1:99993628-99993628
7 SLC35A3 NM_012243.3(SLC35A3):c.778G>C (p.Ala260Pro)SNV Uncertain significance 567622 rs1557846118 1:100483262-100483262 1:100017706-100017706
8 SLC35A3 NM_012243.3(SLC35A3):c.700A>G (p.Asn234Asp)SNV Uncertain significance 567532 rs1557844477 1:100480923-100480923 1:100015367-100015367
9 SLC35A3 NM_012243.3(SLC35A3):c.187+5G>ASNV Uncertain significance 541612 rs1327580386 1:100459302-100459302 1:99993746-99993746
10 SLC35A3 NM_012243.3(SLC35A3):c.452T>A (p.Val151Asp)SNV Uncertain significance 565476 rs1415934934 1:100472699-100472699 1:100007143-100007143
11 SLC35A3 NM_012243.3(SLC35A3):c.40G>A (p.Val14Ile)SNV Uncertain significance 569299 rs1392040093 1:100459150-100459150 1:99993594-99993594
12 SLC35A3 NM_012243.3(SLC35A3):c.347C>T (p.Thr116Met)SNV Uncertain significance 655475 1:100472594-100472594 1:100007038-100007038
13 SLC35A3 NM_012243.3(SLC35A3):c.481C>T (p.Gln161Ter)SNV Uncertain significance 541609 rs1553203137 1:100476936-100476936 1:100011380-100011380
14 SLC35A3 NM_012243.3(SLC35A3):c.606A>G (p.Gln202=)SNV Uncertain significance 541615 rs370227291 1:100477061-100477061 1:100011505-100011505
15 SLC35A3 NM_012243.3(SLC35A3):c.342+1G>ASNV Uncertain significance 541613 rs1553201582 1:100464972-100464972 1:99999416-99999416
16 SLC35A3 NM_012243.3(SLC35A3):c.405A>C (p.Lys135Asn)SNV Uncertain significance 474761 rs754559092 1:100472652-100472652 1:100007096-100007096
17 SLC35A3 NM_012243.3(SLC35A3):c.959G>A (p.Gly320Glu)SNV Uncertain significance 541611 rs1553205151 1:100488013-100488013 1:100022457-100022457
18 SLC35A3 NM_012243.3(SLC35A3):c.748C>T (p.Leu250Phe)SNV Uncertain significance 541610 rs137902416 1:100480971-100480971 1:100015415-100015415
19 SLC35A3 NM_012243.3(SLC35A3):c.827T>C (p.Leu276Ser)SNV Uncertain significance 541614 rs1553204431 1:100483311-100483311 1:100017755-100017755
20 SLC35A3 NM_012243.3(SLC35A3):c.887+7deldeletion Likely benign 541620 rs1553204463 1:100483378-100483378 1:100017822-100017822
21 SLC35A3 NM_012243.3(SLC35A3):c.114A>G (p.Leu38=)SNV Likely benign 541616 rs757521726 1:100459224-100459224 1:99993668-99993668
22 SLC35A3 NM_012243.3(SLC35A3):c.188-10T>CSNV Likely benign 541617 rs1184385628 1:100464807-100464807 1:99999251-99999251
23 SLC35A3 NM_012243.3(SLC35A3):c.22G>A (p.Val8Ile)SNV Benign 474760 rs74102304 1:100459132-100459132 1:99993576-99993576

Expression for Arthrogryposis, Mental Retardation, and Seizures

Search GEO for disease gene expression data for Arthrogryposis, Mental Retardation, and Seizures.

Pathways for Arthrogryposis, Mental Retardation, and Seizures

GO Terms for Arthrogryposis, Mental Retardation, and Seizures

Sources for Arthrogryposis, Mental Retardation, and Seizures

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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