AMC3
MCID: ART165
MIFTS: 31

Arthrogryposis Multiplex Congenita 3, Myogenic Type (AMC3)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Arthrogryposis Multiplex Congenita 3, Myogenic Type

MalaCards integrated aliases for Arthrogryposis Multiplex Congenita 3, Myogenic Type:

Name: Arthrogryposis Multiplex Congenita 3, Myogenic Type 57 29 6
Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita 58 6
Arthrogryposis Multiplex Congenita, Myogenic Type 57 72
Amcm 57 72
Arthrogryposis Multiplex Congenita, Myogenic Type; Amcm 57
Syne1-Related Arthrogryposis Multiplex Congenita 58
Autosomal Recessive Myogenic Amc 58
Syne1-Related Amc 58
Amc3 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
onset in utero
three unrelated families have been reported (last curated july 2019)


HPO:

31
arthrogryposis multiplex congenita 3, myogenic type:
Inheritance autosomal recessive inheritance
Onset and clinical course progressive congenital onset


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Arthrogryposis Multiplex Congenita 3, Myogenic Type

UniProtKB/Swiss-Prot : 72 Arthrogryposis multiplex congenita, myogenic type: A form of arthrogryposis multiplex congenita, a heterogeneous group of disorders characterized by multiple joint contractures resulting, in some cases, from reduced or absent fetal movements. AMCM is an autosomal recessive form characterized by decreased fetal movements, muscular hypotonia, delayed motor development, loss of ambulation, variable skeletal defects, and persistent contractures of interphalangeal joints.

MalaCards based summary : Arthrogryposis Multiplex Congenita 3, Myogenic Type, also known as autosomal recessive myogenic arthrogryposis multiplex congenita, is related to distal arthrogryposis and colon adenocarcinoma. An important gene associated with Arthrogryposis Multiplex Congenita 3, Myogenic Type is SYNE1 (Spectrin Repeat Containing Nuclear Envelope Protein 1). Affiliated tissues include skeletal muscle, lung and brain, and related phenotypes are restrictive ventilatory defect and scoliosis

OMIM® : 57 Myogenic-type arthrogryposis multiplex congenita-3 (AMC3) is an autosomal recessive disorder characterized by decreased fetal movements, hypotonia, variable skeletal defects, including clubfoot and scoliosis, and delayed motor milestones with difficulty walking (summary by Baumann et al., 2017). (618484) (Updated 05-Apr-2021)

Related Diseases for Arthrogryposis Multiplex Congenita 3, Myogenic Type

Diseases related to Arthrogryposis Multiplex Congenita 3, Myogenic Type via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 distal arthrogryposis 9.5 SYNE1 ESR1
2 colon adenocarcinoma 9.4 SYNE1 ESR1
3 emery-dreifuss muscular dystrophy 4, autosomal dominant 9.4 SYNE1-AS1 SYNE1 ESR1
4 emery-dreifuss muscular dystrophy 9.3 SYNE1-AS1 SYNE1 ESR1
5 spinocerebellar ataxia, autosomal recessive 8 9.3 SYNE1-AS1 SYNE1 ESR1

Graphical network of the top 20 diseases related to Arthrogryposis Multiplex Congenita 3, Myogenic Type:



Diseases related to Arthrogryposis Multiplex Congenita 3, Myogenic Type

Symptoms & Phenotypes for Arthrogryposis Multiplex Congenita 3, Myogenic Type

Human phenotypes related to Arthrogryposis Multiplex Congenita 3, Myogenic Type:

31 (show all 17)
# Description HPO Frequency HPO Source Accession
1 restrictive ventilatory defect 31 very rare (1%) HP:0002091
2 scoliosis 31 HP:0002650
3 kyphosis 31 HP:0002808
4 strabismus 31 HP:0000486
5 cryptorchidism 31 HP:0000028
6 talipes equinovarus 31 HP:0001762
7 adducted thumb 31 HP:0001181
8 decreased fetal movement 31 HP:0001558
9 hyporeflexia 31 HP:0001265
10 arthrogryposis multiplex congenita 31 HP:0002804
11 delayed gross motor development 31 HP:0002194
12 small for gestational age 31 HP:0001518
13 generalized hypotonia 31 HP:0001290
14 hypermetropia 31 HP:0000540
15 gowers sign 31 HP:0003391
16 centrally nucleated skeletal muscle fibers 31 HP:0003687
17 weakness of facial musculature 31 HP:0030319

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skeletal Spine:
scoliosis
kyphosis

Genitourinary External Genitalia Male:
cryptorchidism

Growth Other:
small for gestational age

Skeletal Hands:
adducted thumbs
contractures of interphalangeal joints

Head And Neck Face:
facial weakness

Neurologic Central Nervous System:
head lag
loss of ambulation
delayed motor skills
impaired intellectual development (in some patients)

Prenatal Manifestations Movement:
decreased fetal movements

Head And Neck Eyes:
strabismus
hyperopia

Neurologic Peripheral Nervous System:
hyporeflexia

Muscle Soft Tissue:
gowers sign
hypotonia
centralized nuclei
variation in fiber size seen on muscle biopsy

Skeletal:
contractures
arthrogryposis

Laboratory Abnormalities:
normal serum creatine kinase

Skeletal Feet:
club foot

Respiratory:
restrictive lung disease (in some patients)

Clinical features from OMIM®:

618484 (Updated 05-Apr-2021)

Drugs & Therapeutics for Arthrogryposis Multiplex Congenita 3, Myogenic Type

Search Clinical Trials , NIH Clinical Center for Arthrogryposis Multiplex Congenita 3, Myogenic Type

Genetic Tests for Arthrogryposis Multiplex Congenita 3, Myogenic Type

Genetic tests related to Arthrogryposis Multiplex Congenita 3, Myogenic Type:

# Genetic test Affiliating Genes
1 Arthrogryposis Multiplex Congenita 3, Myogenic Type 29 SYNE1

Anatomical Context for Arthrogryposis Multiplex Congenita 3, Myogenic Type

MalaCards organs/tissues related to Arthrogryposis Multiplex Congenita 3, Myogenic Type:

40
Skeletal Muscle, Lung, Brain, Colon, Cardiac Myocytes

Publications for Arthrogryposis Multiplex Congenita 3, Myogenic Type

Articles related to Arthrogryposis Multiplex Congenita 3, Myogenic Type:

(show all 16)
# Title Authors PMID Year
1
Homozygous SYNE1 mutation causes congenital onset of muscular weakness with distal arthrogryposis: a genotype-phenotype correlation. 57 6
27782104 2017
2
Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects. 57 6
24319099 2014
3
Mutation of SYNE-1, encoding an essential component of the nuclear lamina, is responsible for autosomal recessive arthrogryposis. 6 57
19542096 2009
4
Disruption of nesprin-1 produces an Emery Dreifuss muscular dystrophy-like phenotype in mice. 57
19008300 2009
5
Biothiol-Activatable Bioluminescent Coelenterazine Derivative for Molecular Imaging in Vitro and in Vivo. 61
31291724 2019
6
Mesoporous silica nanocarriers encapsulated antimalarials with high therapeutic performance. 61
29449583 2018
7
Macrophage matrix metalloproteinase-9 mediates epithelial-mesenchymal transition in vitro in murine renal tubular cells. 61
20075196 2010
8
Activated macrophages induce metastatic behavior of colon cancer cells. 61
19457576 2010
9
Brain-derived neurotrophic factor drives the changes in excitatory synaptic transmission in the rat superficial dorsal horn that follow sciatic nerve injury. 61
19124536 2009
10
Macrophage activation increases the invasive properties of hepatoma cells by destabilization of the adherens junction. 61
16678166 2006
11
Induced expression of insulin-like growth factor-1 by amniotic membrane-conditioned medium in cultured human corneal epithelial cells. 61
16505018 2006
12
Natriuretic peptide gene expression after beta-adrenergic stimulation in adult mouse cardiac myocytes. 61
15383178 2004
13
Adenovirus-mediated gene transfer to adult mouse cardiomyocytes is selectively influenced by culture medium. 61
12950067 2003
14
Silica-exposed macrophages release a growth-promoting activity for type II pneumocytes. 61
8384239 1993
15
Rat alveolar macrophage-derived platelet-derived growth factor is chemotactic for rat lung fibroblasts. 61
1701306 1990
16
Secretion of a platelet-derived growth factor homologue by rat alveolar macrophages exposed to particulates in vitro. 61
2190835 1990

Variations for Arthrogryposis Multiplex Congenita 3, Myogenic Type

ClinVar genetic disease variations for Arthrogryposis Multiplex Congenita 3, Myogenic Type:

6 (show all 13)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SYNE1 NM_182961.4(SYNE1):c.24577C>T (p.Arg8193Ter) SNV Pathogenic 284512 rs760715690 GRCh37: 6:152470677-152470677
GRCh38: 6:152149542-152149542
2 ESR1 , SYNE1 NM_182961.4(SYNE1):c.26236C>T (p.Arg8746Ter) SNV Pathogenic 635787 rs746177326 GRCh37: 6:152443729-152443729
GRCh38: 6:152122594-152122594
3 SYNE1 NM_182961.4(SYNE1):c.24313-2A>G SNV Pathogenic 2335 rs1586285494 GRCh37: 6:152472827-152472827
GRCh38: 6:152151692-152151692
4 SYNE1 NM_182961.4(SYNE1):c.226-2dup Duplication Likely pathogenic 279936 rs774388631 GRCh37: 6:152841678-152841679
GRCh38: 6:152520543-152520544
5 SYNE1 NM_182961.4(SYNE1):c.12955A>C (p.Ser4319Arg) SNV Uncertain significance 1030073 GRCh37: 6:152652865-152652865
GRCh38: 6:152331730-152331730
6 SYNE1 NM_182961.4(SYNE1):c.16984C>T (p.Arg5662Cys) SNV Uncertain significance 284474 rs145899734 GRCh37: 6:152631566-152631566
GRCh38: 6:152310431-152310431
7 SYNE1 NM_182961.4(SYNE1):c.22520G>A (p.Arg7507His) SNV Uncertain significance 648470 rs776733924 GRCh37: 6:152532698-152532698
GRCh38: 6:152211563-152211563
8 SYNE1 NM_182961.4(SYNE1):c.25523A>G (p.Glu8508Gly) SNV Uncertain significance 1030076 GRCh37: 6:152457889-152457889
GRCh38: 6:152136754-152136754
9 SYNE1 NM_182961.4(SYNE1):c.16831C>T (p.Arg5611Trp) SNV Uncertain significance 355857 rs369292604 GRCh37: 6:152631888-152631888
GRCh38: 6:152310753-152310753
10 SYNE1 NM_182961.4(SYNE1):c.17187G>C (p.Gln5729His) SNV Uncertain significance 982828 GRCh37: 6:152630985-152630985
GRCh38: 6:152309850-152309850
11 SYNE1-AS1 , SYNE1 NM_182961.4(SYNE1):c.8769G>T (p.Met2923Ile) SNV Uncertain significance 982830 GRCh37: 6:152702381-152702381
GRCh38: 6:152381246-152381246
12 SYNE1 NM_182961.4(SYNE1):c.25922G>A (p.Arg8641Gln) SNV Uncertain significance 805573 rs774776856 GRCh37: 6:152454490-152454490
GRCh38: 6:152133355-152133355
13 SYNE1 NM_182961.4(SYNE1):c.16984C>A (p.Arg5662Ser) SNV Likely benign 283936 rs145899734 GRCh37: 6:152631566-152631566
GRCh38: 6:152310431-152310431

Expression for Arthrogryposis Multiplex Congenita 3, Myogenic Type

Search GEO for disease gene expression data for Arthrogryposis Multiplex Congenita 3, Myogenic Type.

Pathways for Arthrogryposis Multiplex Congenita 3, Myogenic Type

GO Terms for Arthrogryposis Multiplex Congenita 3, Myogenic Type

Molecular functions related to Arthrogryposis Multiplex Congenita 3, Myogenic Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 enzyme binding GO:0019899 8.62 SYNE1 ESR1

Sources for Arthrogryposis Multiplex Congenita 3, Myogenic Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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