MCID: NRG008
MIFTS: 30

Neurogenic Arthrogryposis Multiplex Congenita

Categories: Rare diseases, Fetal diseases, Neuronal diseases

Aliases & Classifications for Neurogenic Arthrogryposis Multiplex Congenita

MalaCards integrated aliases for Neurogenic Arthrogryposis Multiplex Congenita:

Name: Neurogenic Arthrogryposis Multiplex Congenita 12 56
Arthrogryposis Multiplex Congenita Neurogenic Type 12 50 42
Amcn 12 50
Arthrogryposis Multiplex Congenita, Neurogenic Type 69
Neurogenic Type of Amc 50
Amc, Neurogenic Type 50
Amc Neurogenic Type 12

Characteristics:

Orphanet epidemiological data:

56
neurogenic arthrogryposis multiplex congenita
Inheritance: Autosomal recessive;

HPO:

32
neurogenic arthrogryposis multiplex congenita:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0090124
ICD10 33 Q74.3
MeSH 42 C536614
Orphanet 56 ORPHA1143
MESH via Orphanet 43 C536614
UMLS via Orphanet 70 C1859721
ICD10 via Orphanet 34 Q74.3
UMLS 69 C1859721

Summaries for Neurogenic Arthrogryposis Multiplex Congenita

NIH Rare Diseases : 50 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. last updated: 5/7/2015

MalaCards based summary : Neurogenic Arthrogryposis Multiplex Congenita, also known as arthrogryposis multiplex congenita neurogenic type, is related to arthrogryposis, renal dysfunction, and cholestasis 2 and arthrogryposis, renal dysfunction, and cholestasis 1, and has symptoms including micrognathia, hernia and round face. An important gene associated with Neurogenic Arthrogryposis Multiplex Congenita is VIPAS39 (VPS33B Interacting Protein, Apical-Basolateral Polarity Regulator, Spe-39 Homolog). Affiliated tissues include heart, spinal cord and bone.

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.

Related Diseases for Neurogenic Arthrogryposis Multiplex Congenita

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

id Related Disease Score Top Affiliating Genes
1 arthrogryposis, renal dysfunction, and cholestasis 2 11.2
2 arthrogryposis, renal dysfunction, and cholestasis 1 11.2
3 eclampsia 9.5 VIPAS39 VPS33B
4 cortisone reductase deficiency 9.4 VIPAS39 VPS33B
5 congenital heart defects, multiple types, 4 9.2 VIPAS39 VPS33B

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



Diseases related to Neurogenic Arthrogryposis Multiplex Congenita

Symptoms & Phenotypes for Neurogenic Arthrogryposis Multiplex Congenita

Human phenotypes related to Neurogenic Arthrogryposis Multiplex Congenita:

56 32 (show all 28)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 micrognathia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000347
2 hernia 56 32 occasional (7.5%) Occasional (29-5%) HP:0100790
3 round face 56 32 occasional (7.5%) Occasional (29-5%) HP:0000311
4 short nose 56 32 occasional (7.5%) Occasional (29-5%) HP:0003196
5 joint stiffness 56 32 hallmark (90%) Very frequent (99-80%) HP:0001387
6 oligohydramnios 56 32 hallmark (90%) Very frequent (99-80%) HP:0001562
7 intestinal atresia 56 32 hallmark (90%) Very frequent (99-80%) HP:0011100
8 micromelia 56 32 hallmark (90%) Very frequent (99-80%) HP:0002983
9 facial asymmetry 56 32 occasional (7.5%) Occasional (29-5%) HP:0000324
10 skeletal muscle atrophy 56 32 hallmark (90%) Very frequent (99-80%) HP:0003202
11 hemiplegia/hemiparesis 56 32 occasional (7.5%) Occasional (29-5%) HP:0004374
12 abnormality of the hip bone 56 32 frequent (33%) Frequent (79-30%) HP:0003272
13 skin dimples 56 32 frequent (33%) Frequent (79-30%) HP:0010781
14 camptodactyly of finger 56 32 hallmark (90%) Very frequent (99-80%) HP:0100490
15 abnormality of the shoulder 56 32 hallmark (90%) Very frequent (99-80%) HP:0003043
16 abnormality of the lower limb 56 32 hallmark (90%) Very frequent (99-80%) HP:0002814
17 congenital muscular torticollis 56 32 occasional (7.5%) Occasional (29-5%) HP:0005988
18 abnormality of calvarial morphology 56 32 hallmark (90%) Very frequent (99-80%) HP:0002648
19 aplasia/hypoplasia of the radius 56 32 frequent (33%) Frequent (79-30%) HP:0006501
20 gastric ulcer 56 32 hallmark (90%) Very frequent (99-80%) HP:0002592
21 maternal diabetes 56 32 hallmark (90%) Very frequent (99-80%) HP:0009800
22 arthrogryposis multiplex congenita 32 HP:0002804
23 myopathy 32 HP:0003198
24 abnormality of the upper limb 56 Very frequent (99-80%)
25 abnormality of cardiovascular system morphology 32 HP:0030680
26 abnormality of the mesentery 56 Very frequent (99-80%)
27 congenital contracture 32 HP:0002803
28 abnormality of mesentery morphology 32 hallmark (90%) HP:0100016

Drugs & Therapeutics for Neurogenic Arthrogryposis Multiplex Congenita

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

Cochrane evidence based reviews: arthrogryposis multiplex congenita neurogenic type

Genetic Tests for Neurogenic Arthrogryposis Multiplex Congenita

Anatomical Context for Neurogenic Arthrogryposis Multiplex Congenita

MalaCards organs/tissues related to Neurogenic Arthrogryposis Multiplex Congenita:

39
Heart, Spinal Cord, Bone, Skin, Skeletal Muscle

Publications for Neurogenic Arthrogryposis Multiplex Congenita

Articles related to Neurogenic Arthrogryposis Multiplex Congenita:

id Title Authors Year
1
Neurogenic arthrogryposis multiplex congenita and velopharyngeal incompetence associated with chromosome 22q11.2 deletion. ( 15791927 )
2005
2
Neurogenic arthrogryposis multiplex congenita: clinical and MRI findings. ( 8292208 )
1993
3
Neurogenic arthrogryposis multiplex congenita: clinical and muscle biopsy findings. ( 3251214 )
1988

Variations for Neurogenic Arthrogryposis Multiplex Congenita

Expression for Neurogenic Arthrogryposis Multiplex Congenita

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

Pathways for Neurogenic Arthrogryposis Multiplex Congenita

GO Terms for Neurogenic Arthrogryposis Multiplex Congenita

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

id Name GO ID Score Top Affiliating Genes
1 cytoplasmic vesicle GO:0031410 9.37 VIPAS39 VPS33B
2 endosome GO:0005768 9.32 VIPAS39 VPS33B
3 early endosome GO:0005769 9.26 VIPAS39 VPS33B
4 late endosome GO:0005770 9.16 VIPAS39 VPS33B
5 recycling endosome GO:0055037 8.96 VIPAS39 VPS33B
6 HOPS complex GO:0030897 8.62 VIPAS39 VPS33B

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

id Name GO ID Score Top Affiliating Genes
1 protein transport GO:0015031 9.26 VIPAS39 VPS33B
2 endosome to lysosome transport GO:0008333 8.96 VIPAS39 VPS33B
3 intracellular protein transport GO:0006886 8.85 VIPAS39
4 autophagosome maturation GO:0097352 8.62 VIPAS39 VPS33B

Sources for Neurogenic Arthrogryposis Multiplex Congenita

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....