MCID: AN5002
MIFTS: 9

Ano5 Muscle Disease

Aliases & Classifications for Ano5 Muscle Disease

MalaCards integrated aliases for Ano5 Muscle Disease:

Name: Ano5 Muscle Disease 24
Anoctaminopathy 24

Summaries for Ano5 Muscle Disease

MalaCards based summary : Ano5 Muscle Disease, also known as anoctaminopathy, is related to encephalopathy, progressive, early-onset, with episodic rhabdomyolysis and muscular dystrophy, limb-girdle, autosomal recessive 12. An important gene associated with Ano5 Muscle Disease is ANO5 (Anoctamin 5).

GeneReviews: NBK114459

Related Diseases for Ano5 Muscle Disease

Diseases related to Ano5 Muscle Disease via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 10.1
2 muscular dystrophy, limb-girdle, autosomal recessive 12 10.1
3 miyoshi muscular dystrophy 3 10.1
4 miyoshi muscular dystrophy 10.1
5 autosomal recessive limb-girdle muscular dystrophy type 2l 10.1
6 myopathy 10.1
7 muscular dystrophy 10.1
8 limb-girdle muscular dystrophy 10.1

Graphical network of the top 20 diseases related to Ano5 Muscle Disease:



Diseases related to Ano5 Muscle Disease

Symptoms & Phenotypes for Ano5 Muscle Disease

Drugs & Therapeutics for Ano5 Muscle Disease

Search Clinical Trials , NIH Clinical Center for Ano5 Muscle Disease

Genetic Tests for Ano5 Muscle Disease

Anatomical Context for Ano5 Muscle Disease

Publications for Ano5 Muscle Disease

Articles related to Ano5 Muscle Disease:

(show all 26)
# Title Authors PMID Year
1
Diagnostic anoctamin-5 protein defect in patients with ANO5-mutated muscular dystrophy. 38 4
28489263 2018
2
ANO5 gene analysis in a large cohort of patients with anoctaminopathy: confirmation of male prevalence and high occurrence of the common exon 5 gene mutation. 38 4
23606453 2013
3
Autosomal recessive limb-girdle and Miyoshi muscular dystrophies in the Netherlands: The clinical and molecular spectrum of 244 patients. 4
30919934 2019
4
Dysregulated calcium homeostasis prevents plasma membrane repair in Anoctamin 5/TMEM16E-deficient patient muscle cells. 4
31341644 2019
5
Genetic landscape and novel disease mechanisms from a large LGMD cohort of 4656 patients. 4
30564623 2018
6
Hyperckemia and myalgia are common presentations of anoctamin-5-related myopathy in French patients. 4
28187523 2017
7
Three novel ANO5 missense mutations in Caucasian and Chinese families and sporadic cases with gnathodiaphyseal dysplasia. 4
28176803 2017
8
Dilated cardiomyopathy in patients with mutations in anoctamin 5. 4
23041008 2013
9
Anoctamin 5 muscular dystrophy in Denmark: prevalence, genotypes, phenotypes, cardiac findings, and muscle protein expression. 4
23670307 2013
10
ANO5 mutations in the Dutch limb girdle muscular dystrophy population. 4
23607914 2013
11
Frequency and characterisation of anoctamin 5 mutations in a cohort of Italian limb-girdle muscular dystrophy patients. 4
22742934 2012
12
Eight new mutations and the expanding phenotype variability in muscular dystrophy caused by ANO5. 4
22402862 2012
13
Amyloidosis and exercise intolerance in ANO5 muscular dystrophy. 4
21820307 2012
14
A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophy. 4
21186264 2011
15
A new distal myopathy with mutation in anoctamin 5. 4
20692837 2010
16
Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies. 4
20096397 2010
17
Clinical and molecular findings in a cohort of ANO5-related myopathy. 38
31353849 2019
18
Clinical spectrum and gene mutations in a Chinese cohort with anoctaminopathy. 38
31350120 2019
19
Intramuscular interstitial amyloid deposition does not impact anoctaminopathy-5 phenotype. 38
30320887 2019
20
Characterization of isolated amyloid myopathy. 38
28888072 2017
21
Decreased Aerobic Capacity in ANO5-Muscular Dystrophy. 38
27911336 2016
22
Rhabdomyolysis featuring muscular dystrophies. 38
26810512 2016
23
Clinical and genetic features of anoctaminopathy in Saudi Arabia. 38
25864073 2015
24
Novel ANO5 homozygous microdeletion causing myalgia and unprovoked rhabdomyolysis in an Arabic man. 38
24889862 2014
25
ANO5 Muscle Disease 38
23193613 2012
26
Selective pattern of muscle involvement seen in distal muscular dystrophy associated with anoctamin 5 mutations: a follow-up muscle MRI study. 38
22980764 2012

Variations for Ano5 Muscle Disease

Expression for Ano5 Muscle Disease

Search GEO for disease gene expression data for Ano5 Muscle Disease.

Pathways for Ano5 Muscle Disease

GO Terms for Ano5 Muscle Disease

Sources for Ano5 Muscle Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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