EMWX
MCID: EPS012
MIFTS: 9

Episodic Muscle Weakness, X-Linked (EMWX)

Categories: Muscle diseases

Aliases & Classifications for Episodic Muscle Weakness, X-Linked

MalaCards integrated aliases for Episodic Muscle Weakness, X-Linked:

Name: Episodic Muscle Weakness, X-Linked 57 13 70
Emwx 57

Characteristics:

HPO:

31
episodic muscle weakness, x-linked:
Inheritance x-linked inheritance


Classifications:



External Ids:

OMIM® 57 300211
MedGen 41 C1846173
SNOMED-CT via HPO 68 263934009 26544005
UMLS 70 C1846173

Summaries for Episodic Muscle Weakness, X-Linked

MalaCards based summary : Episodic Muscle Weakness, X-Linked, is also known as emwx, and has symptoms including muscle weakness An important gene associated with Episodic Muscle Weakness, X-Linked is EMWX (Episodic Muscle Weakness, X-Linked). Related phenotype is muscle weakness.

More information from OMIM: 300211

Related Diseases for Episodic Muscle Weakness, X-Linked

Symptoms & Phenotypes for Episodic Muscle Weakness, X-Linked

Human phenotypes related to Episodic Muscle Weakness, X-Linked:

31
# Description HPO Frequency HPO Source Accession
1 muscle weakness 31 obligate (100%) HP:0001324

Clinical features from OMIM®:

300211 (Updated 20-May-2021)

UMLS symptoms related to Episodic Muscle Weakness, X-Linked:


muscle weakness

Drugs & Therapeutics for Episodic Muscle Weakness, X-Linked

Search Clinical Trials , NIH Clinical Center for Episodic Muscle Weakness, X-Linked

Genetic Tests for Episodic Muscle Weakness, X-Linked

Anatomical Context for Episodic Muscle Weakness, X-Linked

Publications for Episodic Muscle Weakness, X-Linked

Articles related to Episodic Muscle Weakness, X-Linked:

# Title Authors PMID Year
1
A novel syndrome of episodic muscle weakness maps to xp22.3. 57
10486330 1999

Variations for Episodic Muscle Weakness, X-Linked

Expression for Episodic Muscle Weakness, X-Linked

Search GEO for disease gene expression data for Episodic Muscle Weakness, X-Linked.

Pathways for Episodic Muscle Weakness, X-Linked

GO Terms for Episodic Muscle Weakness, X-Linked

Sources for Episodic Muscle Weakness, X-Linked

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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