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 49
Hereditary Inclusion Body Myopathy with Early Respiratory Failure 49
Myopathy, Proximal, with Early Respiratory Muscle Involvement 49
Myofibrillar Myopathy with Early Respiratory Failure 49
Hereditary Myopathy with Early Respiratory Failure 69
Edström Myopathy 49
Hmerf-Erf 49
Hibm-Erf 49
Admerf 49
Hmerf 49

Classifications:



External Ids:

UMLS 69 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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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