MCID: ART103
MIFTS: 23

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 57 75 37 29 6 40 73
Amrs 57 75
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:



Summaries for Arthrogryposis, Mental Retardation, and Seizures

UniProtKB/Swiss-Prot : 75 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. An important gene associated with Arthrogryposis, Mental Retardation, and Seizures is SLC35A3 (Solute Carrier Family 35 Member A3). Related phenotypes are autistic behavior and intellectual disability, mild

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 11.1
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:

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

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 hip dysplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001385
5 hammertoe 59 32 occasional (7.5%) Occasional (29-5%) HP:0001765
6 absence seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0002121
7 intellectual disability, moderate 59 32 occasional (7.5%) Occasional (29-5%) HP:0002342
8 scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002650
9 hip dislocation 59 32 occasional (7.5%) Occasional (29-5%) HP:0002827
10 intellectual disability, severe 59 32 occasional (7.5%) Occasional (29-5%) HP:0010864
11 microcephaly 32 HP:0000252
12 microretrognathia 32 HP:0000308
13 intellectual disability 32 HP:0001249
14 seizures 32 HP:0001250
15 global developmental delay 32 HP:0001263
16 generalized hypotonia 32 HP:0001290
17 arthrogryposis multiplex congenita 32 HP:0002804
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:

# Genetic test Affiliating Genes
1 Arthrogryposis, Mental Retardation, and Seizures 29 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
(show all 36)
# 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_001271684.1(SLC35A3): c.514C> T (p.Gln172Ter) single nucleotide variant Pathogenic rs398122524 GRCh38 Chromosome 1, 100011413: 100011413
3 SLC35A3 NM_012243.2(SLC35A3): c.886A> G (p.Ser296Gly) single nucleotide variant Pathogenic rs141952252 GRCh37 Chromosome 1, 100483370: 100483370
4 SLC35A3 NM_012243.2(SLC35A3): c.886A> G (p.Ser296Gly) single nucleotide variant Pathogenic rs141952252 GRCh38 Chromosome 1, 100017814: 100017814
5 SLC35A3 NM_012243.2(SLC35A3): c.405A> C (p.Lys135Asn) single nucleotide variant Uncertain significance rs754559092 GRCh38 Chromosome 1, 100007096: 100007096
6 SLC35A3 NM_012243.2(SLC35A3): c.405A> C (p.Lys135Asn) single nucleotide variant Uncertain significance rs754559092 GRCh37 Chromosome 1, 100472652: 100472652
7 SLC35A3 NM_012243.2(SLC35A3): c.531G> C (p.Met177Ile) single nucleotide variant Benign rs151009402 GRCh37 Chromosome 1, 100476986: 100476986
8 SLC35A3 NM_012243.2(SLC35A3): c.531G> C (p.Met177Ile) single nucleotide variant Benign rs151009402 GRCh38 Chromosome 1, 100011430: 100011430
9 SLC35A3 NM_012243.2(SLC35A3): c.63T> G (p.Val21=) single nucleotide variant Likely benign rs141542767 GRCh37 Chromosome 1, 100459173: 100459173
10 SLC35A3 NM_012243.2(SLC35A3): c.63T> G (p.Val21=) single nucleotide variant Likely benign rs141542767 GRCh38 Chromosome 1, 99993617: 99993617
11 SLC35A3 NM_012243.2(SLC35A3): c.22G> A (p.Val8Ile) single nucleotide variant Benign rs74102304 GRCh37 Chromosome 1, 100459132: 100459132
12 SLC35A3 NM_012243.2(SLC35A3): c.22G> A (p.Val8Ile) single nucleotide variant Benign rs74102304 GRCh38 Chromosome 1, 99993576: 99993576
13 SLC35A3 NM_012243.2(SLC35A3): c.585A> G (p.Lys195=) single nucleotide variant Likely benign rs747139028 GRCh38 Chromosome 1, 100011484: 100011484
14 SLC35A3 NM_012243.2(SLC35A3): c.585A> G (p.Lys195=) single nucleotide variant Likely benign rs747139028 GRCh37 Chromosome 1, 100477040: 100477040
15 SLC35A3 NM_012243.2(SLC35A3): c.959G> A (p.Gly320Glu) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 100022457: 100022457
16 SLC35A3 NM_012243.2(SLC35A3): c.959G> A (p.Gly320Glu) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 100488013: 100488013
17 SLC35A3 NM_012243.2(SLC35A3): c.748C> T (p.Leu250Phe) single nucleotide variant Uncertain significance rs137902416 GRCh37 Chromosome 1, 100480971: 100480971
18 SLC35A3 NM_012243.2(SLC35A3): c.748C> T (p.Leu250Phe) single nucleotide variant Uncertain significance rs137902416 GRCh38 Chromosome 1, 100015415: 100015415
19 SLC35A3 NM_012243.2(SLC35A3): c.753+9T> G single nucleotide variant Likely benign rs200265486 GRCh37 Chromosome 1, 100480985: 100480985
20 SLC35A3 NM_012243.2(SLC35A3): c.753+9T> G single nucleotide variant Likely benign rs200265486 GRCh38 Chromosome 1, 100015429: 100015429
21 SLC35A3 NM_012243.2(SLC35A3): c.827T> C (p.Leu276Ser) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 100483311: 100483311
22 SLC35A3 NM_012243.2(SLC35A3): c.827T> C (p.Leu276Ser) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 100017755: 100017755
23 SLC35A3 NM_012243.2(SLC35A3): c.887+7delT deletion Likely benign GRCh37 Chromosome 1, 100483378: 100483378
24 SLC35A3 NM_012243.2(SLC35A3): c.887+7delT deletion Likely benign GRCh38 Chromosome 1, 100017822: 100017822
25 SLC35A3 NM_012243.2(SLC35A3): c.481C> T (p.Gln161Ter) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 100011380: 100011380
26 SLC35A3 NM_012243.2(SLC35A3): c.481C> T (p.Gln161Ter) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 100476936: 100476936
27 SLC35A3 NM_012243.2(SLC35A3): c.606A> G (p.Gln202=) single nucleotide variant Uncertain significance rs370227291 GRCh37 Chromosome 1, 100477061: 100477061
28 SLC35A3 NM_012243.2(SLC35A3): c.606A> G (p.Gln202=) single nucleotide variant Uncertain significance rs370227291 GRCh38 Chromosome 1, 100011505: 100011505
29 SLC35A3 NM_012243.2(SLC35A3): c.342+1G> A single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 100464972: 100464972
30 SLC35A3 NM_012243.2(SLC35A3): c.342+1G> A single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 99999416: 99999416
31 SLC35A3 NM_012243.2(SLC35A3): c.114A> G (p.Leu38=) single nucleotide variant Likely benign rs757521726 GRCh37 Chromosome 1, 100459224: 100459224
32 SLC35A3 NM_012243.2(SLC35A3): c.114A> G (p.Leu38=) single nucleotide variant Likely benign rs757521726 GRCh38 Chromosome 1, 99993668: 99993668
33 SLC35A3 NM_012243.2(SLC35A3): c.188-10T> C single nucleotide variant Likely benign GRCh37 Chromosome 1, 100464807: 100464807
34 SLC35A3 NM_012243.2(SLC35A3): c.188-10T> C single nucleotide variant Likely benign GRCh38 Chromosome 1, 99999251: 99999251
35 SLC35A3 NM_012243.2(SLC35A3): c.187+5G> A single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 99993746: 99993746
36 SLC35A3 NM_012243.2(SLC35A3): c.187+5G> A single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 100459302: 100459302

Expression for Arthrogryposis, Mental Retardation, and Seizures

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Pathways for Arthrogryposis, Mental Retardation, and Seizures

GO Terms for Arthrogryposis, Mental Retardation, and Seizures

Sources for Arthrogryposis, Mental Retardation, and Seizures

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