MCID: HRD141
MIFTS: 7

Hereditary Proximal Myopathy with Early Respiratory Failure

Categories: Rare diseases

Aliases & Classifications for Hereditary Proximal Myopathy with Early Respiratory Failure

MalaCards integrated aliases for Hereditary Proximal Myopathy with Early Respiratory Failure:

Name: Hereditary Proximal Myopathy with Early Respiratory Failure 53
Hereditary Inclusion Body Myopathy with Early Respiratory Failure 53
Myopathy, Proximal, with Early Respiratory Muscle Involvement 53
Myofibrillar Myopathy with Early Respiratory Failure 53
Hereditary Myopathy with Early Respiratory Failure 73
Edström Myopathy 53
Hmerf-Erf 53
Hibm-Erf 53
Admerf 53
Hmerf 53

Classifications:



External Ids:

UMLS 73 C1863599

Summaries for Hereditary Proximal Myopathy with Early Respiratory Failure

MalaCards based summary : Hereditary Proximal Myopathy with Early Respiratory Failure, also known as hereditary inclusion body myopathy with early respiratory failure, is related to hereditary myopathy with early respiratory failure.

Related Diseases for Hereditary Proximal Myopathy with Early Respiratory Failure

Diseases related to Hereditary Proximal Myopathy with Early Respiratory Failure via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hereditary myopathy with early respiratory failure 11.4

Symptoms & Phenotypes for Hereditary Proximal Myopathy with Early Respiratory Failure

Drugs & Therapeutics for Hereditary Proximal Myopathy with Early Respiratory Failure

Search Clinical Trials , NIH Clinical Center for Hereditary Proximal Myopathy with Early Respiratory Failure

Genetic Tests for Hereditary Proximal Myopathy with Early Respiratory Failure

Anatomical Context for Hereditary Proximal Myopathy with Early Respiratory Failure

Publications for Hereditary Proximal Myopathy with Early Respiratory Failure

Articles related to Hereditary Proximal Myopathy with Early Respiratory Failure:

# Title Authors Year
1
Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure. ( 23486992 )
2013

Variations for Hereditary Proximal Myopathy with Early Respiratory Failure

Expression for Hereditary Proximal Myopathy with Early Respiratory Failure

Search GEO for disease gene expression data for Hereditary Proximal Myopathy with Early Respiratory Failure.

Pathways for Hereditary Proximal Myopathy with Early Respiratory Failure

GO Terms for Hereditary Proximal Myopathy with Early Respiratory Failure

Sources for Hereditary Proximal Myopathy with Early Respiratory Failure

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
Content
Loading form....