MCID: CYL003
MIFTS: 16

Cylindrical Spirals Myopathy

Categories: Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Cylindrical Spirals Myopathy

MalaCards integrated aliases for Cylindrical Spirals Myopathy:

Name: Cylindrical Spirals Myopathy 12 52 58 15
Myotonic Myopathy with Cylindrical Spirals 52

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0080103
ICD10 via Orphanet 33 G71.2
Orphanet 58 ORPHA171886

Summaries for Cylindrical Spirals Myopathy

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 171886 Definition Cylindrical spirals myopathy is a rare form of congenital myopathy characterized by global muscle weakness, hypotonia , myotonia and cramps in the presence of cylindrical, spiral-shaped inclusions (located in the central and/or subsacrolemmal areas of muscle fibers) in skeletal muscle biopsy . Abnormal gait, scoliosis , epileptic encephalopathy and psychomotor delay may be associated. Visit the Orphanet disease page for more resources.

MalaCards based summary : Cylindrical Spirals Myopathy, also known as myotonic myopathy with cylindrical spirals, is related to myotonic myopathy with cylindrical spirals and reducing body myopathy 1a. An important gene associated with Cylindrical Spirals Myopathy is AMPD1 (Adenosine Monophosphate Deaminase 1). Affiliated tissues include skeletal muscle, and related phenotype is muscle.

Disease Ontology : 12 A congenital myopathy that is characterized by global muscle weakness, hypotonia, myotonia and cramps in the presence of cylindrical, spiral-shaped inclusions.

Related Diseases for Cylindrical Spirals Myopathy

Diseases related to Cylindrical Spirals Myopathy via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 myotonic myopathy with cylindrical spirals 12.8
2 reducing body myopathy 1a 9.8 LIM2 CFL2
3 multiple pterygium syndrome, escobar variant 9.4 PES1 DOK7
4 peripheral nervous system disease 9.3 PES1 DOK7
5 ptosis 9.2 PES1 DOK7
6 neuromuscular disease 9.1 PES1 DOK7 AMPD1
7 myopathy 8.9 TRIM54 DOK7 CFL2 AMPD1

Graphical network of the top 20 diseases related to Cylindrical Spirals Myopathy:



Diseases related to Cylindrical Spirals Myopathy

Symptoms & Phenotypes for Cylindrical Spirals Myopathy

MGI Mouse Phenotypes related to Cylindrical Spirals Myopathy:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 8.92 AMPD1 CFL2 DOK7 TRIM54

Drugs & Therapeutics for Cylindrical Spirals Myopathy

Search Clinical Trials , NIH Clinical Center for Cylindrical Spirals Myopathy

Genetic Tests for Cylindrical Spirals Myopathy

Anatomical Context for Cylindrical Spirals Myopathy

MalaCards organs/tissues related to Cylindrical Spirals Myopathy:

40
Skeletal Muscle

Publications for Cylindrical Spirals Myopathy

Articles related to Cylindrical Spirals Myopathy:

# Title Authors PMID Year
1
Ultrastructural myopathology in the molecular era. 61
24047350 2013

Variations for Cylindrical Spirals Myopathy

Expression for Cylindrical Spirals Myopathy

Search GEO for disease gene expression data for Cylindrical Spirals Myopathy.

Pathways for Cylindrical Spirals Myopathy

GO Terms for Cylindrical Spirals Myopathy

Cellular components related to Cylindrical Spirals Myopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Z disc GO:0030018 8.62 TRIM54 CFL2

Sources for Cylindrical Spirals Myopathy

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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