AMCN
MCID: ART127
MIFTS: 34

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 56 73 71
Neurogenic Arthrogryposis Multiplex Congenita 12 58 36 29 6 15
Arthrogryposis Multiplex Congenita Neurogenic Type 12 74 52 43
Amcn 56 12 52 73
Amc, Neurogenic Type 56 52 73
Arthrogryposis Multiplex Congenita, Neurogenic 13
Neurogenic Type of Amc 52
Amc Neurogenic Type 12

Characteristics:

Orphanet epidemiological data:

58
neurogenic arthrogryposis multiplex congenita
Inheritance: Autosomal recessive;

OMIM:

56
Inheritance:
autosomal recessive

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


HPO:

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


Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0090124
OMIM 56 208100
KEGG 36 H02299
SNOMED-CT 67 715316005
MESH via Orphanet 44 C536614
ICD10 via Orphanet 33 Q74.3
UMLS via Orphanet 72 C1859721
Orphanet 58 ORPHA1143
MedGen 41 C1859721
UMLS 71 C1859721

Summaries for Arthrogryposis Multiplex Congenita, Neurogenic Type

NIH Rare Diseases : 52 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 neurogenic arthrogryposis multiplex congenita, is related to arthrogryposis multiplex congenita, neurogenic, with myelin defect and wieacker-wolff syndrome, female-restricted. 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 neuron depletion, and has material basis in autosomal recessive inheritance of homozygous mutation in the endoplasmic reticulum-golgi intermediate compartment protein 1 gene (ERGIC1) on chromosome region 5q35.

KEGG : 36 Arthrogryposis multiplex congenita (AMC) is a group of disorders characterized by non-progressive joint contractures from birth. There are various etiologies for AMC including genetic and environmental depends on the specific type. It has been reported that mutations in ERGIC1 cause AMC neuropathic type. ERGIC1 encodes a membrane protein which has a possible role in transport between endoplasmic reticulum and Golgi.

UniProtKB/Swiss-Prot : 73 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 : 74 Arthrogryposis multiplex congenita (AMC), or simply arthrogryposis, describes congenital joint... more...

More information 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:

58 31 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 joint stiffness 58 31 hallmark (90%) Very frequent (99-80%) HP:0001387
2 skeletal muscle atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0003202
3 micromelia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002983
4 camptodactyly of finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0100490
5 intestinal atresia 58 31 hallmark (90%) Very frequent (99-80%) HP:0011100
6 abnormality of the shoulder 58 31 hallmark (90%) Very frequent (99-80%) HP:0003043
7 oligohydramnios 58 31 hallmark (90%) Very frequent (99-80%) HP:0001562
8 abnormality of calvarial morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0002648
9 abnormality of the lower limb 58 31 hallmark (90%) Very frequent (99-80%) HP:0002814
10 gastric ulcer 58 31 hallmark (90%) Very frequent (99-80%) HP:0002592
11 maternal diabetes 58 31 hallmark (90%) Very frequent (99-80%) HP:0009800
12 abnormality of mesentery morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0100016
13 abnormality of the hip bone 58 31 frequent (33%) Frequent (79-30%) HP:0003272
14 aplasia/hypoplasia of the radius 58 31 frequent (33%) Frequent (79-30%) HP:0006501
15 skin dimple 31 frequent (33%) HP:0010781
16 short nose 58 31 occasional (7.5%) Occasional (29-5%) HP:0003196
17 hemiplegia/hemiparesis 58 31 occasional (7.5%) Occasional (29-5%) HP:0004374
18 hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0100790
19 micrognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000347
20 facial asymmetry 58 31 occasional (7.5%) Occasional (29-5%) HP:0000324
21 round face 58 31 occasional (7.5%) Occasional (29-5%) HP:0000311
22 congenital muscular torticollis 58 31 occasional (7.5%) Occasional (29-5%) HP:0005988
23 myopathy 31 HP:0003198
24 talipes equinovarus 31 HP:0001762
25 skin dimples 58 Frequent (79-30%)
26 arthrogryposis multiplex congenita 31 HP:0002804
27 abnormality of the upper limb 58 Very frequent (99-80%)
28 abnormality of cardiovascular system morphology 31 HP:0030680
29 congenital contracture 31 HP:0002803

Symptoms via clinical synopsis from OMIM:

56
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 Neurogenic Arthrogryposis Multiplex Congenita 29 ERGIC1

Anatomical Context for Arthrogryposis Multiplex Congenita, Neurogenic Type

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

40
Heart, Spinal Cord, Skin, Bone, Skeletal Muscle

Publications for Arthrogryposis Multiplex Congenita, Neurogenic Type

Articles related to Arthrogryposis Multiplex Congenita, Neurogenic Type:

(show all 26)
# Title Authors PMID Year
1
Mutations in ERGIC1 cause Arthrogryposis multiplex congenita, neuropathic type. 56 6
28317099 2018
2
Arthrogryposis multiplex congenita: twenty-three cases in an Arab kindred. 56 6
5491443 1970
3
Arthrogryposis multiplex congenita: neurogenic type with autosomal recessive inheritance. 61 56
4837288 1974
4
Fine mapping places the gene for arthrogryposis multiplex congenita neuropathic type between D5S394 and D5S2069 on chromosome 5qter. 56
11746047 2001
5
Spinal Muscular Atrophy 6
20301526 2000
6
A gene for arthrogryposis multiplex congenita neuropathic type is linked to D5S394 on chromosome 5qter. 56
9345093 1997
7
Survival motor neuron gene deletion in the arthrogryposis multiplex congenita-spinal muscular atrophy association. 56
8787675 1996
8
Arthrogryposis multiplex congenita in an Arab kindred: update. 56
7726232 1995
9
Neuropathic form of arthrogryposis multiplex congenita. Report of 3 cases with complete necropsy, including the first reported case of agenesis of muscle spindles. 56
150456 1978
10
Recurrence risks in a consecutive series of congenitally malformed children dying in the perinatal period. 56
1261069 1976
11
A new arthrogryposis syndrome with facial and limb anomalies. 56
1130329 1975
12
Congenital arthrogryposis associated with ingestion of tobacco stalks by pregnant sows. 56
4692297 1973
13
Arthrogryposis following treatment of maternal tetanus with muscle relaxants. 56
5420008 1970
14
Arthrogryposis multiplex congenita. Report of two cases of a radicular type with familial incidence. 56
4176659 1968
15
Arthrogryposis multiplex congenita. 56
5914304 1966
16
Experimental clubfoot and arthrogryposis multiplex congenita. 56
13887680 1962
17
Arthrogryposis multiplex congenita. Case due to disease of the anterior horn cells. 56
13724216 1961
18
Cerebral lesions in arthrogryposis multiplex congenita. 56
13532688 1958
19
Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita. 61
31206972 2019
20
Unusual clinical features in infantile Spinal Muscular Atrophies. 61
17804187 2008
21
Linkage mapping of the locus for inherited ovine arthrogryposis (IOA) to sheep chromosome 5. 61
17242863 2007
22
Neurogenic arthrogryposis multiplex congenita and velopharyngeal incompetence associated with chromosome 22q11.2 deletion. 61
15791927 2005
23
Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome. 61
15052268 2004
24
Arthrogryposis multiplex congenita and bilateral parietal polymicrogyria in association with the intrauterine death of a twin. 61
8677028 1996
25
Neurogenic arthrogryposis multiplex congenita: clinical and MRI findings. 61
8292208 1993
26
Neurogenic arthrogryposis multiplex congenita: clinical and muscle biopsy findings. 61
3251214 1988

Variations for Arthrogryposis Multiplex Congenita, Neurogenic Type

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

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ERGIC1 NM_001031711.3(ERGIC1):c.293T>A (p.Val98Glu)SNV Pathogenic 523093 rs1554112524 5:172341759-172341759 5:172914756-172914756
2 LGI4 NM_139284.3(LGI4):c.2T>C (p.Met1Thr)SNV Pathogenic 585241 rs1207534366 19:35625583-35625583 19:35134679-35134679

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

Sources for Arthrogryposis Multiplex Congenita, Neurogenic 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
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
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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