AMCM
MCID: ART158
MIFTS: 29

Arthrogryposis Multiplex Congenita, Myogenic Type (AMCM)

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

Aliases & Classifications for Arthrogryposis Multiplex Congenita, Myogenic Type

MalaCards integrated aliases for Arthrogryposis Multiplex Congenita, Myogenic Type:

Name: Arthrogryposis Multiplex Congenita, Myogenic Type 56 73 6
Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita 58 6
Amcm 56 73
Syne1-Related Arthrogryposis Multiplex Congenita 58
Autosomal Recessive Myogenic Amc 58
Syne1-Related Amc 58

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

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


HPO:

31
arthrogryposis multiplex congenita, 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, Myogenic Type

UniProtKB/Swiss-Prot : 73 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, Myogenic Type, also known as autosomal recessive myogenic arthrogryposis multiplex congenita, is related to spinocerebellar ataxia, autosomal recessive 8 and emery-dreifuss muscular dystrophy 4, autosomal dominant. An important gene associated with Arthrogryposis Multiplex Congenita, Myogenic Type is SYNE1 (Spectrin Repeat Containing Nuclear Envelope Protein 1). Affiliated tissues include lung, skeletal muscle and colon, and related phenotypes are restrictive ventilatory defect and scoliosis

OMIM : 56 Myogenic-type arthrogryposis multiplex congenita (AMCM) 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)

Related Diseases for Arthrogryposis Multiplex Congenita, Myogenic Type

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

# Related Disease Score Top Affiliating Genes
1 spinocerebellar ataxia, autosomal recessive 8 9.6 SYNE1 ESR1
2 emery-dreifuss muscular dystrophy 4, autosomal dominant 9.5 SYNE1 ESR1
3 emery-dreifuss muscular dystrophy 9.5 SYNE1 ESR1
4 muscular dystrophy 9.4 SYNE1 ESR1
5 muscular disease 9.2 SYNE1 ESR1

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



Diseases related to Arthrogryposis Multiplex Congenita, Myogenic Type

Symptoms & Phenotypes for Arthrogryposis Multiplex Congenita, Myogenic Type

Human phenotypes related to Arthrogryposis Multiplex Congenita, 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 cryptorchidism 31 HP:0000028
5 delayed gross motor development 31 HP:0002194
6 arthrogryposis multiplex congenita 31 HP:0002804
7 generalized hypotonia 31 HP:0001290
8 strabismus 31 HP:0000486
9 talipes equinovarus 31 HP:0001762
10 hyporeflexia 31 HP:0001265
11 decreased fetal movement 31 HP:0001558
12 adducted thumb 31 HP:0001181
13 gowers sign 31 HP:0003391
14 centrally nucleated skeletal muscle fibers 31 HP:0003687
15 small for gestational age 31 HP:0001518
16 hypermetropia 31 HP:0000540
17 weakness of facial musculature 31 HP:0030319

Symptoms via clinical synopsis from OMIM:

56
Skeletal Spine:
scoliosis
kyphosis

Head And Neck Eyes:
strabismus
hyperopia

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

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

Genitourinary External Genitalia Male:
cryptorchidism

Neurologic Peripheral Nervous System:
hyporeflexia

Growth Other:
small for gestational age

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

Drugs & Therapeutics for Arthrogryposis Multiplex Congenita, Myogenic Type

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

Genetic Tests for Arthrogryposis Multiplex Congenita, Myogenic Type

Anatomical Context for Arthrogryposis Multiplex Congenita, Myogenic Type

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

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

Publications for Arthrogryposis Multiplex Congenita, Myogenic Type

Articles related to Arthrogryposis Multiplex Congenita, 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. 56 6
27782104 2017
2
Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects. 56 6
24319099 2014
3
Mutation of SYNE-1, encoding an essential component of the nuclear lamina, is responsible for autosomal recessive arthrogryposis. 56 6
19542096 2009
4
Disruption of nesprin-1 produces an Emery Dreifuss muscular dystrophy-like phenotype in mice. 56
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
Activated macrophages induce metastatic behavior of colon cancer cells. 61
19457576 2010
8
Macrophage matrix metalloproteinase-9 mediates epithelial-mesenchymal transition in vitro in murine renal tubular cells. 61
20075196 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, Myogenic Type

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

6 ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SYNE1 NM_182961.4(SYNE1):c.24313-2A>GSNV Pathogenic 2335 6:152472827-152472827 6:152151692-152151692
2 SYNE1 NM_182961.4(SYNE1):c.24577C>T (p.Arg8193Ter)SNV Pathogenic 284512 rs760715690 6:152470677-152470677 6:152149542-152149542
3 SYNE1 NM_182961.4(SYNE1):c.26236C>T (p.Arg8746Ter)SNV Pathogenic 635787 6:152443729-152443729 6:152122594-152122594
4 SYNE1 NM_182961.4(SYNE1):c.16831C>T (p.Arg5611Trp)SNV Uncertain significance 355857 rs369292604 6:152631888-152631888 6:152310753-152310753

Expression for Arthrogryposis Multiplex Congenita, Myogenic Type

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

Pathways for Arthrogryposis Multiplex Congenita, Myogenic Type

GO Terms for Arthrogryposis Multiplex Congenita, Myogenic Type

Molecular functions related to Arthrogryposis Multiplex Congenita, 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, Myogenic Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
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43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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