MCID: CNG506
MIFTS: 16

Congenital Amyoplasia

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Congenital Amyoplasia

MalaCards integrated aliases for Congenital Amyoplasia:

Name: Congenital Amyoplasia 60
Amyoplasia Congenita 60
Arthrogryposis 74

Classifications:



External Ids:

Orphanet 60 ORPHA488586
UMLS 74 C0003886

Summaries for Congenital Amyoplasia

MalaCards based summary : Congenital Amyoplasia, also known as amyoplasia congenita, is related to distal arthrogryposis and intestinal atresia, and has symptoms including muscle weakness, arthralgia and myalgia.

Related Diseases for Congenital Amyoplasia

Diseases related to Congenital Amyoplasia via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 distal arthrogryposis 10.3
2 intestinal atresia 10.3
3 hyperostosis frontalis interna 10.1
4 leigh syndrome 10.1
5 hyperostosis 10.1
6 congenital articular rigidity 10.1
7 hypotonia 10.0

Graphical network of the top 20 diseases related to Congenital Amyoplasia:



Diseases related to Congenital Amyoplasia

Symptoms & Phenotypes for Congenital Amyoplasia

UMLS symptoms related to Congenital Amyoplasia:


muscle weakness, arthralgia, myalgia, muscle cramp, metatarsalgia, muscle rigidity, muscle spasticity

Drugs & Therapeutics for Congenital Amyoplasia

Search Clinical Trials , NIH Clinical Center for Congenital Amyoplasia

Genetic Tests for Congenital Amyoplasia

Anatomical Context for Congenital Amyoplasia

Publications for Congenital Amyoplasia

Articles related to Congenital Amyoplasia:

(show all 24)
# Title Authors Year
1
Interbrachial Pinch by Trapezius Transfer in Amyoplasia Congenita: A Case Report. ( 28607845 )
2017
2
Atypical amyoplasia congenita in an infant with Leigh syndrome: a mitochondrial cause of severe contractures? ( 22887355 )
2012
3
Amyoplasia congenita of the lower extremity: report in a premature baby. ( 16127784 )
2005
4
Picture of the month. Amyoplasia congenita. ( 11231810 )
2001
5
Amyoplasia congenita and intestinal atresia: a common etiology. ( 10626531 )
1999
6
Management of knee deformity in classical arthrogryposis multiplex congenita (amyoplasia congenita). ( 9260647 )
1997
7
Comments on "Amyoplasia Congenita-Like Condition and Maternal Malathion Exposure": Is all Amyoplasia Amyoplasia? ( 3238608 )
1988
8
Amyoplasia congenita-like condition and maternal malathion exposure. ( 3672379 )
1987
9
Multiple intestinal atresia and amyoplasia congenita in four unrelated infants: a new association. ( 3701551 )
1986
10
Marfan's syndrome (arachnodactyly) with arthrogryposis (amyoplasia congenita). ( 14436927 )
1960
11
Amyoplasia congenita; review of literature and report of three cases. ( 13584087 )
1958
12
Amyoplasia congenita; report of a case. ( 13256813 )
1955
13
Amyoplasia congenita: case report and review of literature. ( 13198030 )
1954
14
Amyoplasia congenita. ( 13076682 )
1953
15
Amyoplasia congenita associated with hyperostosis frontalis interna. ( 20266992 )
1947
16
Amyoplasia congenita. ( 18913059 )
1947
17
Amyoplasia congenita. ( 20297308 )
1946
18
Arachnodactyly with amyoplasia congenita. ( 21065304 )
1946
19
Amyoplasia congenita associated with mongolism. ( 21032044 )
1936
20
Amyoplasia Congenita. ( 19989826 )
1934
21
Amyoplasia Congenita. ( 19989099 )
1933
22
A case of amyoplasia congenita, with pathological report. ( 21031934 )
1933
23
Amyoplasia Congenita: (Multiple congenital articular rigidity: Arthrogryposis multiplex congenita). ( 21031882 )
1932
24
CONGENITAL HYPOTONIA (CONGENITAL AMYOPLASIA). ( 20763296 )
1907

Variations for Congenital Amyoplasia

Expression for Congenital Amyoplasia

Search GEO for disease gene expression data for Congenital Amyoplasia.

Pathways for Congenital Amyoplasia

GO Terms for Congenital Amyoplasia

Sources for Congenital Amyoplasia

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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