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 59
Amyoplasia Congenita 59
Arthrogryposis 73

Classifications:



External Ids:

Orphanet 59 ORPHA488586
UMLS 73 C0003886

Summaries for Congenital Amyoplasia

MalaCards based summary : Congenital Amyoplasia, also known as amyoplasia congenita, is related to alkuraya-kucinskas syndrome 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 alkuraya-kucinskas syndrome 10.3
2 intestinal atresia 10.3
3 hyperostosis frontalis interna 10.1
4 leigh syndrome 10.1
5 distal arthrogryposis 10.1
6 hyperostosis 10.1
7 congenital articular rigidity 10.1
8 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 rigidity, muscle cramp, metatarsalgia, 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 20)
# Title Authors Year
1
Interbrachial Pinch by Trapezius Transfer in Amyoplasia Congenita: A Case Report. ( 28607845 )
2017
2
Amyoplasia congenita of the lower extremity: report in a premature baby. ( 16127784 )
2005
3
Picture of the month. Amyoplasia congenita. ( 11231810 )
2001
4
Management of knee deformity in classical arthrogryposis multiplex congenita (amyoplasia congenita). ( 9260647 )
1997
5
Comments on "Amyoplasia Congenita-Like Condition and Maternal Malathion Exposure": Is all Amyoplasia Amyoplasia? ( 3238608 )
1988
6
Amyoplasia congenita-like condition and maternal malathion exposure. ( 3672379 )
1987
7
Marfan's syndrome (arachnodactyly) with arthrogryposis (amyoplasia congenita). ( 14436927 )
1960
8
Amyoplasia congenita; review of literature and report of three cases. ( 13584087 )
1958
9
Amyoplasia congenita; report of a case. ( 13256813 )
1955
10
Amyoplasia congenita: case report and review of literature. ( 13198030 )
1954
11
Amyoplasia congenita. ( 13076682 )
1953
12
Amyoplasia congenita associated with hyperostosis frontalis interna. ( 20266992 )
1947
13
Amyoplasia congenita. ( 18913059 )
1947
14
Amyoplasia congenita. ( 20297308 )
1946
15
Arachnodactyly with amyoplasia congenita. ( 21065304 )
1946
16
Amyoplasia congenita associated with mongolism. ( 21032044 )
1936
17
Amyoplasia Congenita. ( 19989826 )
1934
18
Amyoplasia Congenita. ( 19989099 )
1933
19
A case of amyoplasia congenita, with pathological report. ( 21031934 )
1933
20
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 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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