MCID: ART103
MIFTS: 25

Arthrogryposis, Mental Retardation, and Seizures

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

Aliases & Classifications for Arthrogryposis, Mental Retardation, and Seizures

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

Name: Arthrogryposis, Mental Retardation, and Seizures 54 71 29 69
Amrs 24 71
Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome 56
Arthrogryposis, Mental Retardation and Seizures 24
Slc35a3-Cdg 56

Characteristics:

Orphanet epidemiological data:

56
autism spectrum disorder-epilepsy-arthrogryposis syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

54
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:



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 intellectual disability syndrome 2 and alopecia-intellectual disability syndrome, and has symptoms including scoliosis, intellectual disability, severe and absence seizures. 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:

id Related Disease Score Top Affiliating Genes
1 alopecia intellectual disability syndrome 2 10.8
2 alopecia-intellectual disability syndrome 10.8
3 pancreatic cancer 9.8
4 crimean-congo hemorrhagic fever 9.8
5 pancreatitis 9.8
6 hemorrhagic fever 9.8

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:

54

Skeletal:
joint contractures
arthrogryposis

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

Skeletal- Pelvis:
hip dislocation
dysplasia of the acetabulae

Skeletal- Limbs:
knee dislocation

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

Muscle Soft Tissue:
hypotonia

Head And Neck- Head:
microcephaly

Head And Neck- Face:
microretrognathia

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

Neurologic- Behavioral Psychiatric Manifestations:
autism spectrum disorder


Clinical features from OMIM:

615553

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

56 32 (show all 18)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 scoliosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0002650
2 intellectual disability, severe 56 32 occasional (7.5%) Occasional (29-5%) HP:0010864
3 absence seizures 56 32 occasional (7.5%) Occasional (29-5%) HP:0002121
4 hip dislocation 56 32 occasional (7.5%) Occasional (29-5%) HP:0002827
5 knee dislocation 56 32 frequent (33%) Frequent (79-30%) HP:0004976
6 intellectual disability, mild 56 32 frequent (33%) Frequent (79-30%) HP:0001256
7 hip dysplasia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001385
8 intellectual disability, moderate 56 32 occasional (7.5%) Occasional (29-5%) HP:0002342
9 autistic behavior 56 32 obligate (100%) Obligate (100%) HP:0000729
10 hammertoe 56 32 occasional (7.5%) Occasional (29-5%) HP:0001765
11 seizures 32 HP:0001250
12 microcephaly 32 HP:0000252
13 arthrogryposis multiplex congenita 32 HP:0002804
14 global developmental delay 32 HP:0001263
15 intellectual disability 32 HP:0001249
16 microretrognathia 32 HP:0000308
17 muscular hypotonia 32 HP:0001252
18 camptodactyly of finger 32 HP:0100490

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:

id Genetic test Affiliating Genes
1 Arthrogryposis, Mental Retardation, and Seizures 29
2 Arthrogryposis, Mental Retardation and Seizures 24 SLC35A3

Anatomical Context for Arthrogryposis, Mental Retardation, and Seizures

Publications for Arthrogryposis, Mental Retardation, and Seizures

Variations for Arthrogryposis, Mental Retardation, and Seizures

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

6
id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....