AMRS
MCID: ART103
MIFTS: 24

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 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 scoliosis and hip dysplasia

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 11.3
2 alopecia intellectual disability syndrome 2 11.0
3 alopecia-intellectual disability syndrome 11.0
4 pancreatic cancer 10.2
5 myeloma, multiple 10.0
6 late-onset retinal degeneration 10.0
7 crimean-congo hemorrhagic fever 10.0
8 eosinophilia-myalgia syndrome 10.0
9 hemorrhagic fever 10.0
10 hemifacial spasm 10.0

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 scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002650
2 hip dysplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001385
3 intellectual disability, mild 59 32 frequent (33%) Frequent (79-30%) HP:0001256
4 intellectual disability, severe 59 32 occasional (7.5%) Occasional (29-5%) HP:0010864
5 hip dislocation 59 32 occasional (7.5%) Occasional (29-5%) HP:0002827
6 intellectual disability, moderate 59 32 occasional (7.5%) Occasional (29-5%) HP:0002342
7 absence seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0002121
8 autistic behavior 59 32 obligate (100%) Obligate (100%) HP:0000729
9 hammertoe 59 32 occasional (7.5%) Occasional (29-5%) HP:0001765
10 knee dislocation 59 32 frequent (33%) Frequent (79-30%) HP:0004976
11 intellectual disability 32 HP:0001249
12 seizures 32 HP:0001250
13 global developmental delay 32 HP:0001263
14 microcephaly 32 HP:0000252
15 arthrogryposis multiplex congenita 32 HP:0002804
16 microretrognathia 32 HP:0000308
17 camptodactyly of finger 32 HP:0100490
18 generalized hypotonia 32 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 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 48)
# 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 GRCh37 Chromosome 1, 100472652: 100472652
6 SLC35A3 NM_012243.2(SLC35A3): c.405A> C (p.Lys135Asn) single nucleotide variant Uncertain significance rs754559092 GRCh38 Chromosome 1, 100007096: 100007096
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 GRCh38 Chromosome 1, 99993576: 99993576
12 SLC35A3 NM_012243.2(SLC35A3): c.22G> A (p.Val8Ile) single nucleotide variant Benign rs74102304 GRCh37 Chromosome 1, 100459132: 100459132
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 GRCh38 Chromosome 1, 100015415: 100015415
18 SLC35A3 NM_012243.2(SLC35A3): c.748C> T (p.Leu250Phe) single nucleotide variant Uncertain significance rs137902416 GRCh37 Chromosome 1, 100480971: 100480971
19 SLC35A3 NM_012243.2(SLC35A3): c.753+9T> G single nucleotide variant Likely benign rs200265486 GRCh38 Chromosome 1, 100015429: 100015429
20 SLC35A3 NM_012243.2(SLC35A3): c.753+9T> G single nucleotide variant Likely benign rs200265486 GRCh37 Chromosome 1, 100480985: 100480985
21 SLC35A3 NM_012243.2(SLC35A3): c.827T> C (p.Leu276Ser) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 100017755: 100017755
22 SLC35A3 NM_012243.2(SLC35A3): c.827T> C (p.Leu276Ser) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 100483311: 100483311
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 GRCh38 Chromosome 1, 99999416: 99999416
30 SLC35A3 NM_012243.2(SLC35A3): c.342+1G> A single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 100464972: 100464972
31 SLC35A3 NM_012243.2(SLC35A3): c.114A> G (p.Leu38=) single nucleotide variant Likely benign rs757521726 GRCh38 Chromosome 1, 99993668: 99993668
32 SLC35A3 NM_012243.2(SLC35A3): c.114A> G (p.Leu38=) single nucleotide variant Likely benign rs757521726 GRCh37 Chromosome 1, 100459224: 100459224
33 SLC35A3 NM_012243.2(SLC35A3): c.188-10T> C single nucleotide variant Likely benign GRCh38 Chromosome 1, 99999251: 99999251
34 SLC35A3 NM_012243.2(SLC35A3): c.188-10T> C single nucleotide variant Likely benign GRCh37 Chromosome 1, 100464807: 100464807
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
37 SLC35A3 NM_012243.2(SLC35A3): c.680dup (p.Asp227Glufs) duplication Pathogenic GRCh37 Chromosome 1, 100480903: 100480903
38 SLC35A3 NM_012243.2(SLC35A3): c.680dup (p.Asp227Glufs) duplication Pathogenic GRCh38 Chromosome 1, 100015347: 100015347
39 SLC35A3 NM_012243.2(SLC35A3): c.778G> C (p.Ala260Pro) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 100483262: 100483262
40 SLC35A3 NM_012243.2(SLC35A3): c.778G> C (p.Ala260Pro) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 100017706: 100017706
41 SLC35A3 NM_012243.2(SLC35A3): c.700A> G (p.Asn234Asp) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 100480923: 100480923
42 SLC35A3 NM_012243.2(SLC35A3): c.700A> G (p.Asn234Asp) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 100015367: 100015367
43 SLC35A3 NC_000001.11: g.(?_100007014)_(100011553_?)del deletion Pathogenic GRCh38 Chromosome 1, 100007014: 100011553
44 SLC35A3 NC_000001.11: g.(?_100007014)_(100011553_?)del deletion Pathogenic GRCh37 Chromosome 1, 100472570: 100477109
45 SLC35A3 NM_012243.2(SLC35A3): c.452T> A (p.Val151Asp) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 100007143: 100007143
46 SLC35A3 NM_012243.2(SLC35A3): c.452T> A (p.Val151Asp) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 100472699: 100472699
47 SLC35A3 NM_012243.2(SLC35A3): c.40G> A (p.Val14Ile) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 100459150: 100459150
48 SLC35A3 NM_012243.2(SLC35A3): c.40G> A (p.Val14Ile) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 99993594: 99993594

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

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