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 57 75 73
Arthrogryposis Multiplex Congenita Neurogenic Type 12 76 53 29 6 44
Amcn 57 12 53 75
Neurogenic Arthrogryposis Multiplex Congenita 12 59 15
Amc, Neurogenic Type 57 53 75
Neurogenic Type of Amc 53
Amc Neurogenic Type 12

Characteristics:

Orphanet epidemiological data:

59
neurogenic arthrogryposis multiplex congenita
Inheritance: Autosomal recessive;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
arthrogryposis multiplex congenita, neurogenic type:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 208100
Disease Ontology 12 DOID:0090124
Orphanet 59 ORPHA1143
MESH via Orphanet 45 C536614
ICD10 via Orphanet 34 Q74.3
UMLS via Orphanet 74 C1859721
MedGen 42 C1859721
UMLS 73 C1859721

Summaries for Arthrogryposis Multiplex Congenita, Neurogenic Type

NIH Rare Diseases : 53 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, renal dysfunction, and cholestasis 1 and arthrogryposis, renal dysfunction, and cholestasis 2. An important gene associated with Arthrogryposis Multiplex Congenita, Neurogenic Type is ERGIC1 (Endoplasmic Reticulum-Golgi Intermediate Compartment 1), and among its related pathways/superpathways is RNA transport. Affiliated tissues include heart, spinal cord and skin, and related phenotypes are joint stiffness and short nose

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 : 75 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 : 76 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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Arthrogryposis Multiplex Congenita, Neurogenic Type:

59 32 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 joint stiffness 59 32 hallmark (90%) Very frequent (99-80%) HP:0001387
2 short nose 59 32 occasional (7.5%) Occasional (29-5%) HP:0003196
3 skeletal muscle atrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0003202
4 micrognathia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000347
5 hemiplegia/hemiparesis 59 32 occasional (7.5%) Occasional (29-5%) HP:0004374
6 hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0100790
7 micromelia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002983
8 abnormality of the hip bone 59 32 frequent (33%) Frequent (79-30%) HP:0003272
9 round face 59 32 occasional (7.5%) Occasional (29-5%) HP:0000311
10 skin dimples 59 32 frequent (33%) Frequent (79-30%) HP:0010781
11 oligohydramnios 59 32 hallmark (90%) Very frequent (99-80%) HP:0001562
12 camptodactyly of finger 59 32 hallmark (90%) Very frequent (99-80%) HP:0100490
13 facial asymmetry 59 32 occasional (7.5%) Occasional (29-5%) HP:0000324
14 abnormality of the shoulder 59 32 hallmark (90%) Very frequent (99-80%) HP:0003043
15 intestinal atresia 59 32 hallmark (90%) Very frequent (99-80%) HP:0011100
16 abnormality of the lower limb 59 32 hallmark (90%) Very frequent (99-80%) HP:0002814
17 congenital muscular torticollis 59 32 occasional (7.5%) Occasional (29-5%) HP:0005988
18 abnormality of calvarial morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0002648
19 aplasia/hypoplasia of the radius 59 32 frequent (33%) Frequent (79-30%) HP:0006501
20 gastric ulcer 59 32 hallmark (90%) Very frequent (99-80%) HP:0002592
21 maternal diabetes 59 32 hallmark (90%) Very frequent (99-80%) HP:0009800
22 myopathy 32 HP:0003198
23 arthrogryposis multiplex congenita 32 HP:0002804
24 abnormality of the upper limb 59 Very frequent (99-80%)
25 abnormality of cardiovascular system morphology 32 HP:0030680
26 abnormality of the mesentery 59 Very frequent (99-80%)
27 congenital contracture 32 HP:0002803
28 abnormality of mesentery morphology 32 hallmark (90%) HP:0100016

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 29 ERGIC1

Anatomical Context for Arthrogryposis Multiplex Congenita, Neurogenic Type

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

41
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
Arthrogryposis multiplex congenita: neurogenic type with autosomal recessive inheritance. ( 4837288 )
1974

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 GRCh38 Chromosome 5, 172914756: 172914756
2 ERGIC1 NM_001031711.2(ERGIC1): c.293T> A (p.Val98Glu) single nucleotide variant Pathogenic GRCh37 Chromosome 5, 172341759: 172341759

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

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

# Super pathways Score Top Affiliating Genes
1 10.86 SMN1 SMN2

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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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