MCID: ART103
MIFTS: 26

Arthrogryposis, Mental Retardation, and Seizures

Categories: Genetic diseases, Mental diseases, Neuronal diseases, Metabolic diseases, Fetal 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 53 71 36 28 69
Amrs 53 71
Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome 55
Slc35a3-Cdg 55

Characteristics:

Orphanet epidemiological data:

55
autism spectrum disorder-epilepsy-arthrogryposis syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

53
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:



Summaries for Arthrogryposis, Mental Retardation, and Seizures

UniProtKB/Swiss-Prot : 71 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.

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, and has symptoms including scoliosis, hip dysplasia and intellectual disability, mild. An important gene associated with Arthrogryposis, Mental Retardation, and Seizures is SLC35A3 (Solute Carrier Family 35 Member A3).

Description from OMIM: 615553

Related Diseases for Arthrogryposis, Mental Retardation, and Seizures

Diseases related to Arthrogryposis, Mental Retardation, and Seizures via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 alopecia-mental retardation syndrome 1 10.9
2 alopecia intellectual disability syndrome 2 10.9
3 alopecia-intellectual disability syndrome 10.9
4 myeloma, multiple 9.9
5 pancreatic cancer 9.9
6 crimean-congo hemorrhagic fever 9.9
7 pancreatitis 9.9
8 hemorrhagic fever 9.9
9 hemifacial spasm 9.9

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

Symptoms via clinical synopsis from OMIM:

53
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

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

55 31 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 scoliosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0002650
2 hip dysplasia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001385
3 intellectual disability, mild 55 31 frequent (33%) Frequent (79-30%) HP:0001256
4 intellectual disability, severe 55 31 occasional (7.5%) Occasional (29-5%) HP:0010864
5 hip dislocation 55 31 occasional (7.5%) Occasional (29-5%) HP:0002827
6 intellectual disability, moderate 55 31 occasional (7.5%) Occasional (29-5%) HP:0002342
7 absence seizures 55 31 occasional (7.5%) Occasional (29-5%) HP:0002121
8 autistic behavior 55 31 obligate (100%) Obligate (100%) HP:0000729
9 hammertoe 55 31 occasional (7.5%) Occasional (29-5%) HP:0001765
10 knee dislocation 55 31 frequent (33%) Frequent (79-30%) HP:0004976
11 seizures 31 HP:0001250
12 intellectual disability 31 HP:0001249
13 global developmental delay 31 HP:0001263
14 microcephaly 31 HP:0000252
15 arthrogryposis multiplex congenita 31 HP:0002804
16 microretrognathia 31 HP:0000308
17 camptodactyly of finger 31 HP:0100490
18 generalized hypotonia 31 HP:0001290

Drugs & Therapeutics for Arthrogryposis, Mental Retardation, and Seizures

Search Clinical Trials , 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 28 SLC35A3

Anatomical Context for Arthrogryposis, Mental Retardation, and Seizures

Publications for Arthrogryposis, Mental Retardation, and Seizures

Articles related to Arthrogryposis, Mental Retardation, and Seizures:

# Title Authors Year
1
Intraoperative monitoring of Z-L response (ZLR) and abnormal muscle response (AMR) during microvascular decompression for hemifacial spasm. Interpreting the role of ZLR. ( 29344780 )
2018
2
Low Beclin-1 expression predicts improved overall survival in patients treated with immunomodulatory drugs for multiple myeloma and identifies autophagy inhibition as a promising potentially druggable new therapeutic target: an analysis from The Austrian Myeloma Registry (AMR). ( 26880040 )
2016
3
Emergence of Crimean-Congo hemorrhagic fever in Amreli District of Gujarat State, India, June to July 2013. ( 24211848 )
2014
4
Novel synthetic oleanane triterpenoid AMR-MeOAc inhibits K-Ras through ERK, Akt and survivin in pancreatic cancer cells. ( 24215674 )
2013

Variations for Arthrogryposis, Mental Retardation, and Seizures

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC35A3 NM_001271684.1(SLC35A3): c.514C> T (p.Gln172Ter) single nucleotide variant Pathogenic rs398122524 GRCh37 Chromosome 1, 100476969: 100476969
2 SLC35A3 NM_012243.2(SLC35A3): c.886A> G (p.Ser296Gly) single nucleotide variant Pathogenic rs141952252 GRCh37 Chromosome 1, 100483370: 100483370

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
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47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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