AMCN
MCID: ART127
MIFTS: 37

Arthrogryposis Multiplex Congenita, Neurogenic Type (AMCN)

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

Aliases & Classifications for Arthrogryposis Multiplex Congenita, Neurogenic Type

MalaCards integrated aliases for Arthrogryposis Multiplex Congenita, Neurogenic Type:

Name: Arthrogryposis Multiplex Congenita, Neurogenic Type 58 76 74
Arthrogryposis Multiplex Congenita Neurogenic Type 12 77 54 30 6 45
Neurogenic Arthrogryposis Multiplex Congenita 12 60 38 15
Amcn 58 12 54 76
Amc, Neurogenic Type 58 54 76
Arthrogryposis Multiplex Congenita, Neurogenic 13
Neurogenic Type of Amc 54
Amc Neurogenic Type 12

Characteristics:

Orphanet epidemiological data:

60
neurogenic arthrogryposis multiplex congenita
Inheritance: Autosomal recessive;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth
based on studies of one large consanguineous arab family (last curated april 2018)


HPO:

33
arthrogryposis multiplex congenita, neurogenic type:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0090124
OMIM 58 208100
KEGG 38 H02299
MESH via Orphanet 46 C536614
ICD10 via Orphanet 35 Q74.3
UMLS via Orphanet 75 C1859721
Orphanet 60 ORPHA1143
MedGen 43 C1859721
UMLS 74 C1859721

Summaries for Arthrogryposis Multiplex Congenita, Neurogenic Type

NIH Rare Diseases : 54 Arthrogryposis multiplex congenita neurogenic type (AMCN) refers to the development of multiple joint contractures affecting two or more areas of the body prior to birth. A contracture occurs when a joint becomes permanently fixed in a bent or straightened position, which can impact the function and range of motion of the joint and lead to muscle atrophy. Signs and symptoms of AMCN vary. AMCN can affect upper and lower joints, including the wrists, elbows, fingers, knees, ankles, and hip.  In AMCN, arthrogryposis occurs as a result of the abnormal development of cells in the spinal cord (anterior horn cells) or brainstem (motor nuclei). AMCN often occurs sporadically (in a person with no family history of the condition), however families with multiple affected  members have also been reported. In most cases, the underlying genetic cause remains unknown.

MalaCards based summary : Arthrogryposis Multiplex Congenita, Neurogenic Type, also known as arthrogryposis multiplex congenita neurogenic type, is related to arthrogryposis multiplex congenita, neurogenic, with myelin defect and arthrogryposis, renal dysfunction, and cholestasis 1. An important gene associated with Arthrogryposis Multiplex Congenita, Neurogenic Type is ERGIC1 (Endoplasmic Reticulum-Golgi Intermediate Compartment 1). Affiliated tissues include heart, spinal cord and skin, and related phenotypes are joint stiffness and skeletal muscle atrophy

Disease Ontology : 12 A nervous system disease characterized by congenital contractures at the elbows and knees, myopathy, absence of muscle spindles, congenital heart disease and spinal motor nueron depletion that has material basis in variation in the chromosome region 5q35.

UniProtKB/Swiss-Prot : 76 Arthrogryposis multiplex congenita, neurogenic 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. AMCN is due to a neurogenic defect and is characterized by congenital immobility of the limbs with fixation of multiple joints, and muscle wasting. AMCN transmission pattern is consistent with autosomal recessive inheritance in several families. Penetrance may be incomplete in females.

Wikipedia : 77 Arthrogryposis multiplex congenita (AMC), or simply arthrogryposis, describes congenital joint... more...

Description from OMIM: 208100

Related Diseases for Arthrogryposis Multiplex Congenita, Neurogenic Type

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



Diseases related to Arthrogryposis Multiplex Congenita, Neurogenic Type

Symptoms & Phenotypes for Arthrogryposis Multiplex Congenita, Neurogenic Type

Human phenotypes related to Arthrogryposis Multiplex Congenita, Neurogenic Type:

60 33 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 joint stiffness 60 33 hallmark (90%) Very frequent (99-80%) HP:0001387
2 skeletal muscle atrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0003202
3 micromelia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002983
4 oligohydramnios 60 33 hallmark (90%) Very frequent (99-80%) HP:0001562
5 camptodactyly of finger 60 33 hallmark (90%) Very frequent (99-80%) HP:0100490
6 abnormality of the shoulder 60 33 hallmark (90%) Very frequent (99-80%) HP:0003043
7 intestinal atresia 60 33 hallmark (90%) Very frequent (99-80%) HP:0011100
8 abnormality of the lower limb 60 33 hallmark (90%) Very frequent (99-80%) HP:0002814
9 abnormality of calvarial morphology 60 33 hallmark (90%) Very frequent (99-80%) HP:0002648
10 gastric ulcer 60 33 hallmark (90%) Very frequent (99-80%) HP:0002592
11 maternal diabetes 60 33 hallmark (90%) Very frequent (99-80%) HP:0009800
12 abnormality of mesentery morphology 33 hallmark (90%) HP:0100016
13 abnormality of the hip bone 60 33 frequent (33%) Frequent (79-30%) HP:0003272
14 skin dimples 60 33 frequent (33%) Frequent (79-30%) HP:0010781
15 aplasia/hypoplasia of the radius 60 33 frequent (33%) Frequent (79-30%) HP:0006501
16 short nose 60 33 occasional (7.5%) Occasional (29-5%) HP:0003196
17 micrognathia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000347
18 hemiplegia/hemiparesis 60 33 occasional (7.5%) Occasional (29-5%) HP:0004374
19 hernia 60 33 occasional (7.5%) Occasional (29-5%) HP:0100790
20 round face 60 33 occasional (7.5%) Occasional (29-5%) HP:0000311
21 facial asymmetry 60 33 occasional (7.5%) Occasional (29-5%) HP:0000324
22 congenital muscular torticollis 60 33 occasional (7.5%) Occasional (29-5%) HP:0005988
23 myopathy 33 HP:0003198
24 arthrogryposis multiplex congenita 33 HP:0002804
25 abnormality of the upper limb 60 Very frequent (99-80%)
26 abnormality of cardiovascular system morphology 33 HP:0030680
27 abnormality of the mesentery 60 Very frequent (99-80%)
28 congenital contracture 33 HP:0002803

Symptoms via clinical synopsis from OMIM:

58
Skeletal:
arthrogryposis multiplex congenita
joint contractures
flexion joint contractures

Skeletal Feet:
equinovarus

Muscle Soft Tissue:
muscle atrophy

Cardiovascular Heart:
congenital heart disease (in some patients)

Clinical features from OMIM:

208100

Drugs & Therapeutics for Arthrogryposis Multiplex Congenita, Neurogenic Type

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

Cochrane evidence based reviews: arthrogryposis multiplex congenita neurogenic type

Genetic Tests for Arthrogryposis Multiplex Congenita, Neurogenic Type

Genetic tests related to Arthrogryposis Multiplex Congenita, Neurogenic Type:

# Genetic test Affiliating Genes
1 Arthrogryposis Multiplex Congenita Neurogenic Type 30 ERGIC1

Anatomical Context for Arthrogryposis Multiplex Congenita, Neurogenic Type

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

42
Heart, Spinal Cord, Skin, Bone, Skeletal Muscle

Publications for Arthrogryposis Multiplex Congenita, Neurogenic Type

Articles related to Arthrogryposis Multiplex Congenita, Neurogenic Type:

# Title Authors Year
1
Mutations in ERGIC1 cause Arthrogryposis multiplex congenita, neuropathic type. ( 28317099 )
2018
2
Arthrogryposis multiplex congenita: neurogenic type with autosomal recessive inheritance. ( 4837288 )
1974
3
Arthrogryposis multiplex congenita: twenty-three cases in an Arab kindred. ( 5491443 )
1970

Variations for Arthrogryposis Multiplex Congenita, Neurogenic Type

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ERGIC1 NM_001031711.2(ERGIC1): c.293T> A (p.Val98Glu) single nucleotide variant Pathogenic rs1554112524 GRCh38 Chromosome 5, 172914756: 172914756
2 ERGIC1 NM_001031711.2(ERGIC1): c.293T> A (p.Val98Glu) single nucleotide variant Pathogenic rs1554112524 GRCh37 Chromosome 5, 172341759: 172341759
3 LGI4 NM_139284.2(LGI4): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic GRCh38 Chromosome 19, 35134679: 35134679
4 LGI4 NM_139284.2(LGI4): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic GRCh37 Chromosome 19, 35625583: 35625583

Expression for Arthrogryposis Multiplex Congenita, Neurogenic Type

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

Pathways for Arthrogryposis Multiplex Congenita, Neurogenic Type

GO Terms for Arthrogryposis Multiplex Congenita, Neurogenic Type

Cellular components related to Arthrogryposis Multiplex Congenita, Neurogenic Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Z disc GO:0030018 9.4 SMN1 SMN2
2 perikaryon GO:0043204 9.37 SMN1 SMN2
3 Cajal body GO:0015030 9.32 SMN1 SMN2
4 cytoplasmic ribonucleoprotein granule GO:0036464 9.26 SMN1 SMN2
5 SMN-Sm protein complex GO:0034719 9.16 SMN1 SMN2
6 Gemini of coiled bodies GO:0097504 8.96 SMN1 SMN2
7 SMN complex GO:0032797 8.62 SMN1 SMN2

Biological processes related to Arthrogryposis Multiplex Congenita, Neurogenic Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 spliceosomal snRNP assembly GO:0000387 9.26 SMN1 SMN2
2 spliceosomal complex assembly GO:0000245 9.16 SMN1 SMN2
3 import into nucleus GO:0051170 8.96 SMN1 SMN2
4 DNA-templated transcription, termination GO:0006353 8.62 SMN1 SMN2

Sources for Arthrogryposis Multiplex Congenita, Neurogenic Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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