MCID: MYP103
MIFTS: 22

Myopathy, Proximal, with Early Respiratory Muscle Involvement

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Myopathy, Proximal, with Early Respiratory Muscle Involvement

MalaCards integrated aliases for Myopathy, Proximal, with Early Respiratory Muscle Involvement:

Name: Myopathy, Proximal, with Early Respiratory Muscle Involvement 54 25 13
Hereditary Myopathy with Early Respiratory Failure 23 24 25 71 29 69
Hmerf 23 25 56 71
Myofibrillar Myopathy with Early Respiratory Failure 23 56
Edstrom Myopathy 25 71
Hereditary Inclusion Body Myopathy with Early Respiratory Failure 56
Hereditary Proximal Myopathy with Early Respiratory Failure 56
Edström Myopathy 56
Mfm-Titinopathy 23
Hibm-Erf 56
Admerf 56
Mprm 25

Characteristics:

Orphanet epidemiological data:

56
hereditary proximal myopathy with early respiratory failure
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide);

HPO:

32
myopathy, proximal, with early respiratory muscle involvement:
Inheritance autosomal dominant inheritance


GeneReviews:

23
Penetrance Penetrance appears to depend on the pathogenic variant...

Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

OMIM 54 603689
Orphanet 56 ORPHA178464
UMLS via Orphanet 70 C1863599
ICD10 via Orphanet 34 G71.0
MedGen 40 C1863599

Summaries for Myopathy, Proximal, with Early Respiratory Muscle Involvement

Genetics Home Reference : 25 Hereditary myopathy with early respiratory failure (HMERF) is an inherited muscle disease that predominantly affects muscles close to the center of the body (proximal muscles) and muscles that are needed for breathing.

MalaCards based summary : Myopathy, Proximal, with Early Respiratory Muscle Involvement, also known as hereditary myopathy with early respiratory failure, is related to hereditary proximal myopathy with early respiratory failure and respiratory failure, and has symptoms including proximal muscle weakness, neck flexor weakness and diaphragmatic weakness. An important gene associated with Myopathy, Proximal, with Early Respiratory Muscle Involvement is TTN (Titin).

UniProtKB/Swiss-Prot : 71 Hereditary myopathy with early respiratory failure: Autosomal dominant, adult-onset myopathy with early respiratory muscle involvement.

Description from OMIM: 603689
GeneReviews: NBK185330

Related Diseases for Myopathy, Proximal, with Early Respiratory Muscle Involvement

Diseases related to Myopathy, Proximal, with Early Respiratory Muscle Involvement via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 hereditary proximal myopathy with early respiratory failure 11.3
2 respiratory failure 10.5
3 myopathy 10.5

Symptoms & Phenotypes for Myopathy, Proximal, with Early Respiratory Muscle Involvement

Clinical features from OMIM:

603689

Human phenotypes related to Myopathy, Proximal, with Early Respiratory Muscle Involvement:

32
id Description HPO Frequency HPO Source Accession
1 proximal muscle weakness 32 HP:0003701
2 neck flexor weakness 32 HP:0003722
3 diaphragmatic weakness 32 HP:0009113
4 foot dorsiflexor weakness 32 HP:0009027

Drugs & Therapeutics for Myopathy, Proximal, with Early Respiratory Muscle Involvement

Search Clinical Trials , NIH Clinical Center for Myopathy, Proximal, with Early Respiratory Muscle Involvement

Genetic Tests for Myopathy, Proximal, with Early Respiratory Muscle Involvement

Genetic tests related to Myopathy, Proximal, with Early Respiratory Muscle Involvement:

id Genetic test Affiliating Genes
1 Hereditary Myopathy with Early Respiratory Failure 29 24 TTN

Anatomical Context for Myopathy, Proximal, with Early Respiratory Muscle Involvement

Publications for Myopathy, Proximal, with Early Respiratory Muscle Involvement

Variations for Myopathy, Proximal, with Early Respiratory Muscle Involvement

UniProtKB/Swiss-Prot genetic disease variations for Myopathy, Proximal, with Early Respiratory Muscle Involvement:

71
id Symbol AA change Variation ID SNP ID
1 TTN p.Arg279Trp VAR_026634 rs138060032

ClinVar genetic disease variations for Myopathy, Proximal, with Early Respiratory Muscle Involvement:

6 (show all 40)
id Gene Variation Type Significance SNP ID Assembly Location
1 TTN NM_133378.4(TTN) indel Pathogenic rs281864927 GRCh37 Chromosome 2, 179391925: 179391935
2 TTN NM_001256850.1(TTN): c.102966delA (p.Lys34322Asnfs) deletion Pathogenic rs281864930 GRCh37 Chromosome 2, 179391826: 179391826
3 TTN NM_001256850.1(TTN): c.56953C> T (p.Arg18985Ter) single nucleotide variant Pathogenic/Likely pathogenic rs72646846 GRCh37 Chromosome 2, 179454576: 179454576
4 TTN NM_001256850.1(TTN): c.90211T> C (p.Cys30071Arg) single nucleotide variant Pathogenic rs869320740 GRCh37 Chromosome 2, 179410829: 179410829
5 TTN NM_001267550.2(TTN): c.95185T> C (p.Trp31729Arg) single nucleotide variant Pathogenic rs869320741 GRCh37 Chromosome 2, 179410778: 179410778
6 TTN NM_001267550.2(TTN): c.95186G> T (p.Trp31729Leu) single nucleotide variant Pathogenic rs786205367 GRCh37 Chromosome 2, 179410777: 179410777
7 TTN NM_001256850.1(TTN): c.90264G> C (p.Trp30088Cys) single nucleotide variant Pathogenic rs869320742 GRCh37 Chromosome 2, 179410776: 179410776
8 TTN NM_001267550.2(TTN): c.95195C> T (p.Pro31732Leu) single nucleotide variant Pathogenic rs753334568 GRCh37 Chromosome 2, 179410768: 179410768
9 TTN NM_001267550.2(TTN): c.95358C> G (p.Asn31786Lys) single nucleotide variant Pathogenic rs869320743 GRCh37 Chromosome 2, 179410605: 179410605
10 TTN NM_001267550.2(TTN): c.67495C> T (p.Arg22499Ter) single nucleotide variant Pathogenic/Likely pathogenic rs574660186 GRCh37 Chromosome 2, 179444429: 179444429
11 TTN NM_001267550.2(TTN): c.49336dupT (p.Tyr16446Leufs) duplication Likely pathogenic rs797044683 GRCh37 Chromosome 2, 179478788: 179478788
12 TTN NM_001267550.2(TTN): c.53995G> T (p.Glu17999Ter) single nucleotide variant Likely pathogenic rs794727387 GRCh37 Chromosome 2, 179469909: 179469909
13 TTN NM_001267550.2(TTN): c.60681dupT (p.Lys20228Terfs) duplication Likely pathogenic rs797044692 GRCh37 Chromosome 2, 179455771: 179455771
14 TTN NM_001267550.2(TTN): c.79162G> T (p.Gly26388Ter) single nucleotide variant Likely pathogenic rs763822931 GRCh37 Chromosome 2, 179431697: 179431697
15 TTN NM_001267550.2(TTN): c.82544_82545insTTAG (p.Arg27515Serfs) insertion Likely pathogenic rs797044697 GRCh37 Chromosome 2, 179428314: 179428315
16 TTN NM_001267550.2(TTN): c.88594+1G> T single nucleotide variant Likely pathogenic rs794727467 GRCh37 Chromosome 2, 179419591: 179419591
17 TTN NM_001267550.2(TTN): c.88979_88985delATGGCGG (p.Asp29660Valfs) deletion Likely pathogenic rs794727468 GRCh37 Chromosome 2, 179418853: 179418859
18 TTN NM_001267550.2(TTN): c.99719C> G (p.Ser33240Ter) single nucleotide variant Likely pathogenic rs794727539 GRCh37 Chromosome 2, 179402215: 179402215
19 TTN NM_001267550.2(TTN): c.107163_107167delTACTT (p.Phe35721Leufs) deletion Likely pathogenic rs794727544 GRCh37 Chromosome 2, 179393311: 179393315
20 TTN NM_001256850.1(TTN): c.75927C> G (p.Tyr25309Ter) single nucleotide variant Likely pathogenic rs794729291 GRCh37 Chromosome 2, 179430009: 179430009
21 TTN NM_001256850.1(TTN): c.59757dupC (p.Gly19920Argfs) duplication Pathogenic/Likely pathogenic rs794729330 GRCh37 Chromosome 2, 179449688: 179449688
22 TTN NM_001256850.1(TTN): c.76114C> T (p.Arg25372Ter) single nucleotide variant Pathogenic/Likely pathogenic rs869038795 GRCh37 Chromosome 2, 179429822: 179429822
23 TTN NM_001256850.1(TTN): c.62425+1G> A single nucleotide variant Likely pathogenic rs758279518 GRCh37 Chromosome 2, 179444665: 179444665
24 TTN NM_001267550.2(TTN): c.66160+2T> C single nucleotide variant Likely pathogenic rs753146898 GRCh37 Chromosome 2, 179447021: 179447021
25 TTN NM_001256850.1(TTN): c.77113C> T (p.Gln25705Ter) single nucleotide variant Pathogenic/Likely pathogenic rs886042331 GRCh37 Chromosome 2, 179428823: 179428823
26 TTN NM_001267550.2(TTN): c.51883_51892delAAGCGTGCAG (p.Lys17295Hisfs) deletion Likely pathogenic rs886042414 GRCh37 Chromosome 2, 179474145: 179474154
27 TTN NM_001267550.2(TTN): c.70754delT (p.Val23585Glyfs) deletion Likely pathogenic rs886042441 GRCh37 Chromosome 2, 179440105: 179440105
28 TTN NM_001267550.2(TTN): c.91798_91799insT (p.Glu30600Valfs) insertion Likely pathogenic rs886042502 GRCh37 Chromosome 2, 179414766: 179414767
29 TTN indel Likely pathogenic GRCh37 Chromosome 2, 179433196: 179433213
30 TTN NM_001267550.2(TTN): c.54190+1G> A single nucleotide variant Likely pathogenic rs756339648 GRCh37 Chromosome 2, 179469713: 179469713
31 TTN NM_001267550.2(TTN): c.51459_51462delTGTA (p.Asp17153Glufs) deletion Likely pathogenic rs886043718 GRCh37 Chromosome 2, 179474688: 179474691
32 TTN NM_001267550.2(TTN): c.104399delG (p.Arg34800Lysfs) deletion Likely pathogenic rs747662439 GRCh37 Chromosome 2, 179396943: 179396943
33 TTN NM_001267550.2(TTN): c.99920_99921insTC (p.Ala33308Profs) insertion Likely pathogenic rs886043854 GRCh37 Chromosome 2, 179401915: 179401916
34 TTN NM_001256850.1(TTN): c.100831C> T (p.Arg33611Ter) single nucleotide variant Pathogenic/Likely pathogenic rs886043924 GRCh37 Chromosome 2, 179395588: 179395588
35 TTN NM_001267550.2(TTN): c.47629C> T (p.Gln15877Ter) single nucleotide variant Likely pathogenic rs886044009 GRCh37 Chromosome 2, 179482183: 179482183
36 TTN NM_001267550.2(TTN): c.78197dupA (p.Tyr26066Terfs) duplication Likely pathogenic GRCh37 Chromosome 2, 179432662: 179432662
37 TTN NM_001267550.2(TTN): c.56294delC (p.Thr18765Lysfs) deletion Likely pathogenic rs886044096 GRCh37 Chromosome 2, 179464334: 179464334
38 TTN NM_001267550.2(TTN): c.90561delT (p.Thr30188Leufs) deletion Likely pathogenic rs886044318 GRCh37 Chromosome 2, 179417066: 179417066
39 TTN NM_001267550.2(TTN): c.68885_68888dupATAC (p.Ile22964Tyrfs) duplication Pathogenic/Likely pathogenic rs757603460 GRCh38 Chromosome 2, 178577447: 178577450
40 TTN NM_001267550.2(TTN): c.89221dupA (p.Ile29741Asnfs) duplication Likely pathogenic GRCh37 Chromosome 2, 179418511: 179418511

Expression for Myopathy, Proximal, with Early Respiratory Muscle Involvement

Search GEO for disease gene expression data for Myopathy, Proximal, with Early Respiratory Muscle Involvement.

Pathways for Myopathy, Proximal, with Early Respiratory Muscle Involvement

GO Terms for Myopathy, Proximal, with Early Respiratory Muscle Involvement

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