AMRS
MCID: ART103
MIFTS: 39

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 57 74 37 29 6 40 72
Amrs 57 74
Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome 59
Slc35a3-Cdg 59

Characteristics:

Orphanet epidemiological data:

59
autism spectrum disorder-epilepsy-arthrogryposis syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
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:

32
arthrogryposis, mental retardation, and seizures:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 615553
KEGG 37 H01392
ICD10 via Orphanet 34 Q87.8
Orphanet 59 ORPHA370943
UMLS 72 C3809910

Summaries for Arthrogryposis, Mental Retardation, and Seizures

KEGG : 37
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 Amphetamine have been mentioned in the context of this disorder. Affiliated tissues include kidney, colon and bone, and related phenotypes are autistic behavior and intellectual disability, mild

UniProtKB/Swiss-Prot : 74 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:

59 32 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 autistic behavior 59 32 obligate (100%) Obligate (100%) HP:0000729
2 intellectual disability, mild 59 32 frequent (33%) Frequent (79-30%) HP:0001256
3 knee dislocation 59 32 frequent (33%) Frequent (79-30%) HP:0004976
4 scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002650
5 hip dysplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001385
6 intellectual disability, severe 59 32 occasional (7.5%) Occasional (29-5%) HP:0010864
7 hip dislocation 59 32 occasional (7.5%) Occasional (29-5%) HP:0002827
8 intellectual disability, moderate 59 32 occasional (7.5%) Occasional (29-5%) HP:0002342
9 absence seizure 59 32 occasional (7.5%) Occasional (29-5%) HP:0002121
10 hammertoe 59 32 occasional (7.5%) Occasional (29-5%) HP:0001765
11 intellectual disability 32 HP:0001249
12 seizures 32 HP:0001250
13 global developmental delay 32 HP:0001263
14 microcephaly 32 HP:0000252
15 generalized hypotonia 32 HP:0001290
16 arthrogryposis multiplex congenita 32 HP:0002804
17 microretrognathia 32 HP:0000308
18 camptodactyly of finger 32 HP:0100490

Symptoms via clinical synopsis from OMIM:

57
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 28)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
2
Amphetamine Approved, Illicit, Investigational Phase 4 300-62-9 5826 3007
3
Methylphenidate Approved, Investigational Phase 4 113-45-1 4158
4 Sympathomimetics Phase 4
5 Central Nervous System Stimulants Phase 4
6 Neurotransmitter Agents Phase 4
7 Adrenergic Agents Phase 4
8 Lisdexamfetamine Dimesylate Phase 4
9 Dopamine Agents Phase 4
10 Peripheral Nervous System Agents Phase 4
11 Neurotransmitter Uptake Inhibitors Phase 4
12 Dopamine Uptake Inhibitors Phase 4
13 Atomoxetine Hydrochloride Phase 4
14 Autonomic Agents Phase 4
15
Guaifenesin Approved, Investigational, Vet_approved 93-14-1 3516
16 Analgesics
17 Anti-Bacterial Agents
18 Antibiotics, Antitubercular
19 Anti-Infective Agents
20 Antiviral Agents
21 Anti-Retroviral Agents
22 Cola
23 Serotonin Receptor Agonists
24 Altanserin
25 Chlorpheniramine, phenylpropanolamine drug combination
26 N-Methyl-3,4-methylenedioxyamphetamine
27 Serotonin Agents
28
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:

41
Kidney, Colon, Bone, Heart, Liver, Pancreas, Spinal Cord

Publications for Arthrogryposis, Mental Retardation, and Seizures

Articles related to Arthrogryposis, Mental Retardation, and Seizures:

(show top 50) (show all 92)
# Title Authors PMID Year
1
Mutations in SLC35A3 cause autism spectrum disorder, epilepsy and arthrogryposis. 8 71
24031089 2013
2
Identification of antibiotic mycelia residues in cottonseed meal using Fourier transform near-infrared microspectroscopic imaging. 38
31151602 2019
3
Water exchange colonoscopy decreased adenoma miss rates compared with literature data and local data with CO2 insufflation: an observational study. 38
31412789 2019
4
Extracorporeal photopheresis for the treatment of graft rejection in 33 adult kidney transplant recipients. 38
31383541 2019
5
Complete genome arrangement revealed the emergence of a poultry origin superbug Citrobacter portucalensis strain NR-12. 38
31185330 2019
6
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). 38
31122996 2019
7
Efficient ten-gene analysis of NSCLC tissue samples by next-generation sequencing. 38
30876750 2019
8
Effect of recipient gender and donor-specific antibodies on antibody-mediated rejection after heart transplantation. 38
30286278 2019
9
Serotypes, pathogenic potential and antimicrobial resistance of Escherichia coli isolated from subclinical bovine mastitis milk samples in Egypt. 38
31061360 2019
10
Antimicrobial resins with quaternary ammonium salts as a supplement to combat the antibiotic resistome in drinking water treatment plants. 38
30639809 2019
11
Actin turnover ensures uniform tension distribution during cytokinetic actomyosin ring contraction. 38
30759055 2019
12
Milestone Ratings and Supervisory Role Categorizations Swim Together, but Is the Water Muddy? 38
29925038 2019
13
ABO-incompatible liver transplantation for children under 2 years of age: A case report and a single-center review. 38
30341789 2019
14
Gene expression profiles for predicting antibody‑mediated kidney allograft rejection: Analysis of GEO datasets. 38
30066908 2018
15
Adenoma miss rate determined by very shortly repeated colonoscopy: Retrospective analysis of data from a single tertiary medical center in China. 38
30235675 2018
16
New technologies improve adenoma detection rate, adenoma miss rate, and polyp detection rate: a systematic review and meta-analysis. 38
29614263 2018
17
[Mortality in Colombia traffic accidents. Comparative study with other countries]. 38
29967318 2018
18
A longitudinal examination of the asthma medication ratio in children. 38
29939504 2018
19
Intraoperative monitoring of Z-L response (ZLR) and abnormal muscle response (AMR) during microvascular decompression for hemifacial spasm. Interpreting the role of ZLR. 38
29344780 2018
20
Identification of antibiotic mycelia residue in protein rich feed using on near-infrared microscopy imaging. 38
29388906 2018
21
Infant mortality in white-faced capuchins: The impact of alpha male replacements. 38
29140543 2017
22
Midterm Outcomes of 12 Renal Transplant Recipients Treated With Eculizumab to Prevent Atypical Hemolytic Syndrome Recurrence. 38
28858176 2017
23
A new strategy for calculating the risk of ovarian malignancy algorithm (ROMA). 38
28107166 2017
24
Physical activity, body functions and disability among middle-aged and older Spanish adults. 38
28720075 2017
25
Adenoma miss rates associated with a 3-minute versus 6-minute colonoscopy withdrawal time: a prospective, randomized trial. 38
27931951 2017
26
Antimicrobial-resistant sexually transmitted infections: gonorrhoea and Mycoplasma genitalium. 38
28072403 2017
27
Effect of Pretransplant Continuous-Flow Left Ventricular Assist Devices on Cellular and Antibody-Mediated Rejection and Subsequent Allograft Outcomes. 38
27939231 2017
28
Factors Promoting a Good Outcome in a Second Microvascular Decompression Operation When Hemifacial Spasm is Not Relieved After the Initial Operation. 38
27923748 2017
29
Effectiveness and Duration of Effect of Open-Label Lisdexamfetamine Dimesylate in Adults With ADHD. 38
23657761 2017
30
Hyperactivity of Hypothalamic-Pituitary-Adrenal Axis Due to Dysfunction of the Hypothalamic Glucocorticoid Receptor in Sigma-1 Receptor Knockout Mice. 38
28932185 2017
31
Kidney Transplantation Results in Very Highly Sensitized Patients Included in a Virtual Crossmatch Program: Analysis of Kidney Pairs. 38
27932102 2016
32
LDLR, ApoB and ApoE genes polymorphisms and classical risk factors in premature coronary artery disease. 38
27236033 2016
33
Efficacy of Combined Plasmapheresis and Intravenous Immunoglobulin Therapy in Kidney Transplant Patients With Chronic Antibody-mediated Rejection. 38
27225723 2016
34
The Secondary Quality Indicator to Improve Prediction of Adenoma Miss Rate Apart from Adenoma Detection Rate. 38
26809333 2016
35
HLA-DQ Mismatches and Rejection in Kidney Transplant Recipients. 38
27034399 2016
36
Chronic groin pain, discomfort and physical disability after recurrent groin hernia repair: impact of anterior and posterior mesh repair. 38
26590934 2016
37
Trends in amenable mortality rate in the Mongolian population, 2007-2014. 38
27019528 2016
38
A novel quality scoring system for the evaluation of individual colonoscopy: A multicenter retrospective study. 38
26138256 2016
39
Effect of folic acid in a modified experimental model of anorectal malformations adriamycin-induced in rats. 38
26840352 2016
40
Free-running EMG monitoring during microvascular decompression for hemifacial spasm. 38
26143309 2015
41
Is it possible folic acid reduce anorectal malformations ethylenethiourea induced in rats? 38
26352330 2015
42
Within-host diversity of MRSA antimicrobial resistances. 38
25957384 2015
43
Reduced activation in the ventral striatum during probabilistic decision-making in patients in an at-risk mental state. 38
25622039 2015
44
The impact of type of mesh repair on 2nd recurrence after recurrent groin hernia surgery. 38
25561189 2015
45
A microfluidic multiplex proteomic immunoassay device for translational research. 38
26692826 2015
46
Utility of (18) F-FDG and (11)C-PBR28 microPET for the assessment of rat aortic aneurysm inflammation. 38
26055934 2014
47
Are amended surgical pathology reports getting to the correct responsible care provider? 38
24926086 2014
48
Relation between the persistence of an abnormal muscle response and the long-term clinical course after microvascular decompression for hemifacial spasm. 38
24305017 2014
49
Double acoustic microresonator quartz-enhanced photoacoustic spectroscopy. 38
24979023 2014
50
Autoverification in a core clinical chemistry laboratory at an academic medical center. 38
24843824 2014

Variations for Arthrogryposis, Mental Retardation, and Seizures

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

6 (show all 27)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 SLC35A3 NM_012243.3(SLC35A3): c.514C> T (p.Gln172Ter) single nucleotide variant Pathogenic rs398122524 1:100476969-100476969 1:100011413-100011413
2 SLC35A3 NM_012243.3(SLC35A3): c.886A> G (p.Ser296Gly) single nucleotide variant Pathogenic rs141952252 1:100483370-100483370 1:100017814-100017814
3 SLC35A3 NM_012243.3(SLC35A3): c.680dup (p.Asp227fs) duplication Pathogenic 1:100480903-100480903 1:100015347-100015347
4 SLC35A3 NC_000001.10: g.(?_100472570)_(100477109_?)del deletion Pathogenic 1:100472570-100477109 1:100007014-100011553
5 SLC35A3 NM_012243.3(SLC35A3): c.762_763dup (p.Gly255fs) duplication Pathogenic 1:100483244-100483245 1:100017690-100017691
6 SLC35A3 NM_012243.3(SLC35A3): c.74G> A (p.Arg25His) single nucleotide variant Uncertain significance 1:100459184-100459184 1:99993628-99993628
7 SLC35A3 NM_012243.3(SLC35A3): c.187+5G> A single nucleotide variant Uncertain significance rs1327580386 1:100459302-100459302 1:99993746-99993746
8 SLC35A3 NM_012243.3(SLC35A3): c.452T> A (p.Val151Asp) single nucleotide variant Uncertain significance 1:100472699-100472699 1:100007143-100007143
9 SLC35A3 NM_012243.3(SLC35A3): c.40G> A (p.Val14Ile) single nucleotide variant Uncertain significance 1:100459150-100459150 1:99993594-99993594
10 SLC35A3 NM_012243.3(SLC35A3): c.347C> T (p.Thr116Met) single nucleotide variant Uncertain significance 1:100472594-100472594 1:100007038-100007038
11 SLC35A3 NM_012243.3(SLC35A3): c.778G> C (p.Ala260Pro) single nucleotide variant Uncertain significance 1:100483262-100483262 1:100017706-100017706
12 SLC35A3 NM_012243.3(SLC35A3): c.700A> G (p.Asn234Asp) single nucleotide variant Uncertain significance 1:100480923-100480923 1:100015367-100015367
13 SLC35A3 NM_012243.3(SLC35A3): c.481C> T (p.Gln161Ter) single nucleotide variant Uncertain significance rs1553203137 1:100476936-100476936 1:100011380-100011380
14 SLC35A3 NM_012243.3(SLC35A3): c.606A> G (p.Gln202=) single nucleotide variant Uncertain significance rs370227291 1:100477061-100477061 1:100011505-100011505
15 SLC35A3 NM_012243.3(SLC35A3): c.342+1G> A single nucleotide variant Uncertain significance rs1553201582 1:100464972-100464972 1:99999416-99999416
16 SLC35A3 NM_012243.3(SLC35A3): c.405A> C (p.Lys135Asn) single nucleotide variant Uncertain significance rs754559092 1:100472652-100472652 1:100007096-100007096
17 SLC35A3 NM_012243.3(SLC35A3): c.959G> A (p.Gly320Glu) single nucleotide variant Uncertain significance rs1553205151 1:100488013-100488013 1:100022457-100022457
18 SLC35A3 NM_012243.3(SLC35A3): c.748C> T (p.Leu250Phe) single nucleotide variant Uncertain significance rs137902416 1:100480971-100480971 1:100015415-100015415
19 SLC35A3 NM_012243.3(SLC35A3): c.827T> C (p.Leu276Ser) single nucleotide variant Uncertain significance rs1553204431 1:100483311-100483311 1:100017755-100017755
20 SLC35A3 NM_012243.3(SLC35A3): c.887+7del deletion Likely benign rs1553204463 1:100483378-100483378 1:100017822-100017822
21 SLC35A3 NM_012243.3(SLC35A3): c.753+9T> G single nucleotide variant Likely benign rs200265486 1:100480985-100480985 1:100015429-100015429
22 SLC35A3 NM_012243.3(SLC35A3): c.63T> G (p.Val21=) single nucleotide variant Likely benign rs141542767 1:100459173-100459173 1:99993617-99993617
23 SLC35A3 NM_012243.3(SLC35A3): c.114A> G (p.Leu38=) single nucleotide variant Likely benign rs757521726 1:100459224-100459224 1:99993668-99993668
24 SLC35A3 NM_012243.3(SLC35A3): c.188-10T> C single nucleotide variant Likely benign rs1184385628 1:100464807-100464807 1:99999251-99999251
25 SLC35A3 NM_012243.3(SLC35A3): c.585A> G (p.Lys195=) single nucleotide variant Likely benign rs747139028 1:100477040-100477040 1:100011484-100011484
26 SLC35A3 NM_012243.3(SLC35A3): c.22G> A (p.Val8Ile) single nucleotide variant Benign rs74102304 1:100459132-100459132 1:99993576-99993576
27 SLC35A3 NM_012243.3(SLC35A3): c.531G> C (p.Met177Ile) single nucleotide variant Benign rs151009402 1:100476986-100476986 1:100011430-100011430

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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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