AMCM
MCID: ART158
MIFTS: 19

Arthrogryposis Multiplex Congenita, Myogenic Type (AMCM)

Categories: 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 57 6
Amcm 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


Classifications:



External Ids:

OMIM 57 618484

Summaries for Arthrogryposis Multiplex Congenita, Myogenic Type

OMIM : 57 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)

MalaCards based summary : Arthrogryposis Multiplex Congenita, Myogenic Type, is also known as amcm. An important gene associated with Arthrogryposis Multiplex Congenita, Myogenic Type is SYNE1 (Spectrin Repeat Containing Nuclear Envelope Protein 1). Affiliated tissues include lung, colon and cardiac myocytes.

Related Diseases for Arthrogryposis Multiplex Congenita, Myogenic Type

Diseases in the Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita family:

Arthrogryposis Multiplex Congenita, Myogenic Type

Symptoms & Phenotypes for Arthrogryposis Multiplex Congenita, Myogenic Type

Symptoms via clinical synopsis from OMIM:

57
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:
hypotonia
centralized nuclei
gower sign
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

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:

41
Lung, Colon, Cardiac Myocytes

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. 8 71
27782104 2017
2
Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects. 8 71
24319099 2014
3
Mutation of SYNE-1, encoding an essential component of the nuclear lamina, is responsible for autosomal recessive arthrogryposis. 8 71
19542096 2009
4
Disruption of nesprin-1 produces an Emery Dreifuss muscular dystrophy-like phenotype in mice. 8
19008300 2009
5
Biothiol-Activatable Bioluminescent Coelenterazine Derivative for Molecular Imaging in Vitro and in Vivo. 38
31291724 2019
6
Mesoporous silica nanocarriers encapsulated antimalarials with high therapeutic performance. 38
29449583 2018
7
Macrophage matrix metalloproteinase-9 mediates epithelial-mesenchymal transition in vitro in murine renal tubular cells. 38
20075196 2010
8
Activated macrophages induce metastatic behavior of colon cancer cells. 38
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. 38
19124536 2009
10
Macrophage activation increases the invasive properties of hepatoma cells by destabilization of the adherens junction. 38
16678166 2006
11
Induced expression of insulin-like growth factor-1 by amniotic membrane-conditioned medium in cultured human corneal epithelial cells. 38
16505018 2006
12
Natriuretic peptide gene expression after beta-adrenergic stimulation in adult mouse cardiac myocytes. 38
15383178 2004
13
Adenovirus-mediated gene transfer to adult mouse cardiomyocytes is selectively influenced by culture medium. 38
12950067 2003
14
Silica-exposed macrophages release a growth-promoting activity for type II pneumocytes. 38
8384239 1993
15
Rat alveolar macrophage-derived platelet-derived growth factor is chemotactic for rat lung fibroblasts. 38
1701306 1990
16
Secretion of a platelet-derived growth factor homologue by rat alveolar macrophages exposed to particulates in vitro. 38
2190835 1990

Variations for Arthrogryposis Multiplex Congenita, Myogenic Type

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

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 SYNE1 SYNE1, IVS136AS, A-G, -2 single nucleotide variant Pathogenic
2 SYNE1 NM_033071.3(SYNE1): c.24364C> T (p.Arg8122Ter) single nucleotide variant Pathogenic rs760715690 6:152470677-152470677 6:152149542-152149542
3 SYNE1 NM_033071.3(SYNE1): c.26092C> T (p.Arg8698Ter) single nucleotide variant Pathogenic 6:152443729-152443729 6:152122594-152122594

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

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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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