MCID: HRD073
MIFTS: 26

Hereditary Myopathy with Early Respiratory Failure

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Hereditary Myopathy with Early Respiratory Failure

MalaCards integrated aliases for Hereditary Myopathy with Early Respiratory Failure:

Name: Hereditary Myopathy with Early Respiratory Failure 57 24 25 75 29 6 73
Hmerf 57 24 25 59 75
Myopathy, Proximal, with Early Respiratory Muscle Involvement 57 25 13
Edstrom Myopathy 57 25 75
Myofibrillar Myopathy with Early Respiratory Failure 24 59
Mprm 57 25
Myopathy, Proximal, with Early Respiratory Muscle Involvement; Mprm 57
Hereditary Inclusion Body Myopathy with Early Respiratory Failure 59
Hereditary Proximal Myopathy with Early Respiratory Failure 59
Myopathy, Hereditary with Early Respiratory Failure 40
Edström Myopathy 59
Mfm-Titinopathy 24
Hibm-Erf 59
Admerf 59

Characteristics:

Orphanet epidemiological data:

59
hereditary proximal myopathy with early respiratory failure
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide);

HPO:

32
hereditary myopathy with early respiratory failure:
Inheritance autosomal dominant inheritance


GeneReviews:

24
Penetrance Penetrance appears to depend on the pathogenic variant...

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 603689
Orphanet 59 ORPHA178464
ICD10 via Orphanet 34 G71.0
UMLS via Orphanet 74 C1863599
MedGen 42 C1863599
UMLS 73 C1863599

Summaries for Hereditary Myopathy with Early Respiratory Failure

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 : Hereditary Myopathy with Early Respiratory Failure, also known as hmerf, is related to hereditary proximal myopathy with early respiratory failure and respiratory failure. An important gene associated with Hereditary Myopathy with Early Respiratory Failure is TTN (Titin). Related phenotypes are proximal muscle weakness and neck flexor weakness

UniProtKB/Swiss-Prot : 75 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 Hereditary Myopathy with Early Respiratory Failure

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

# 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
4 left ventricular noncompaction 9.6 TTN TTN-AS1

Symptoms & Phenotypes for Hereditary Myopathy with Early Respiratory Failure

Clinical features from OMIM:

603689

Human phenotypes related to Hereditary Myopathy with Early Respiratory Failure:

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

Drugs & Therapeutics for Hereditary Myopathy with Early Respiratory Failure

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

Genetic Tests for Hereditary Myopathy with Early Respiratory Failure

Genetic tests related to Hereditary Myopathy with Early Respiratory Failure:

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

Anatomical Context for Hereditary Myopathy with Early Respiratory Failure

Publications for Hereditary Myopathy with Early Respiratory Failure

Articles related to Hereditary Myopathy with Early Respiratory Failure:

(show all 18)
# Title Authors Year
1
Hereditary myopathy with early respiratory failure (HMERF): Still rare, but common enough. ( 29361395 )
2017
2
Cardiac involvement in hereditary myopathy with early respiratory failure: A cohort study. ( 27511179 )
2016
3
New disease allele and de novo mutation indicate mutational vulnerability of titin exon 343 in hereditary myopathy with early respiratory failure. ( 25500009 )
2015
4
A new disease allele for the p.C30071R mutation in titin causing hereditary myopathy with early respiratory failure. ( 24444549 )
2014
5
Necklace cytoplasmic bodies in hereditary myopathy with early respiratory failure. ( 25253871 )
2014
6
Reply: Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain. ( 24578547 )
2014
7
Reply: Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain. ( 24569025 )
2014
8
Hereditary myopathy with early respiratory failure is associated with misfolding of the titin fibronectin III 119 subdomain. ( 24636144 )
2014
9
Reply: Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain. ( 24271327 )
2013
10
Exome sequencing identifies titin mutations causing hereditary myopathy with early respiratory failure (HMERF) in families of diverse ethnic origins. ( 23514108 )
2013
11
Exome sequencing identifies a novel TTN mutation in a family with hereditary myopathy with early respiratory failure. ( 23446887 )
2013
12
Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain. ( 24231549 )
2013
13
Hereditary myopathy with early respiratory failure: occurrence in various populations. ( 23606733 )
2013
14
Think worldwide: hereditary myopathy with early respiratory failure (HMERF) may not be rare. ( 23695499 )
2013
15
Titin mutation segregates with hereditary myopathy with early respiratory failure. ( 22577215 )
2012
16
Hereditary myopathy with early respiratory failure associated with a mutation in A-band titin. ( 22577218 )
2012
17
An Italian case of hereditary myopathy with early respiratory failure (HMERF) not associated with the titin kinase domain R279W mutation. ( 20708934 )
2010
18
Hereditary Myopathy with Early Respiratory Failure (HMERF) ( 24575448 )
1993

Variations for Hereditary Myopathy with Early Respiratory Failure

UniProtKB/Swiss-Prot genetic disease variations for Hereditary Myopathy with Early Respiratory Failure:

75
# Symbol AA change Variation ID SNP ID
1 TTN p.Arg279Trp VAR_026634 rs138060032

ClinVar genetic disease variations for Hereditary Myopathy with Early Respiratory Failure:

6
(show top 50) (show all 1087)
# 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_133378.4(TTN) indel Pathogenic rs281864927 GRCh38 Chromosome 2, 178527198: 178527208
3 TTN NM_001256850.1(TTN): c.102966delA (p.Lys34322Asnfs) deletion Pathogenic rs281864930 GRCh37 Chromosome 2, 179391826: 179391826
4 TTN NM_001256850.1(TTN): c.102966delA (p.Lys34322Asnfs) deletion Pathogenic rs281864930 GRCh38 Chromosome 2, 178527099: 178527099
5 TTN NM_001256850.1(TTN): c.56953C> T (p.Arg18985Ter) single nucleotide variant Pathogenic/Likely pathogenic rs72646846 GRCh37 Chromosome 2, 179454576: 179454576
6 TTN NM_001256850.1(TTN): c.56953C> T (p.Arg18985Ter) single nucleotide variant Pathogenic/Likely pathogenic rs72646846 GRCh38 Chromosome 2, 178589849: 178589849
7 TTN NM_001256850.1(TTN): c.90211T> C (p.Cys30071Arg) single nucleotide variant Pathogenic rs869320740 GRCh37 Chromosome 2, 179410829: 179410829
8 TTN NM_001256850.1(TTN): c.90211T> C (p.Cys30071Arg) single nucleotide variant Pathogenic rs869320740 GRCh38 Chromosome 2, 178546102: 178546102
9 TTN NM_001267550.2(TTN): c.95185T> C (p.Trp31729Arg) single nucleotide variant Pathogenic rs869320741 GRCh37 Chromosome 2, 179410778: 179410778
10 TTN NM_001267550.2(TTN): c.95185T> C (p.Trp31729Arg) single nucleotide variant Pathogenic rs869320741 GRCh38 Chromosome 2, 178546051: 178546051
11 TTN NM_001267550.2(TTN): c.95186G> T (p.Trp31729Leu) single nucleotide variant Pathogenic rs786205367 GRCh37 Chromosome 2, 179410777: 179410777
12 TTN NM_001267550.2(TTN): c.95186G> T (p.Trp31729Leu) single nucleotide variant Pathogenic rs786205367 GRCh38 Chromosome 2, 178546050: 178546050
13 TTN NM_001256850.1(TTN): c.90264G> C (p.Trp30088Cys) single nucleotide variant Pathogenic rs869320742 GRCh37 Chromosome 2, 179410776: 179410776
14 TTN NM_001256850.1(TTN): c.90264G> C (p.Trp30088Cys) single nucleotide variant Pathogenic rs869320742 GRCh38 Chromosome 2, 178546049: 178546049
15 TTN NM_001267550.2(TTN): c.95195C> T (p.Pro31732Leu) single nucleotide variant Pathogenic rs753334568 GRCh37 Chromosome 2, 179410768: 179410768
16 TTN NM_001267550.2(TTN): c.95195C> T (p.Pro31732Leu) single nucleotide variant Pathogenic rs753334568 GRCh38 Chromosome 2, 178546041: 178546041
17 TTN NM_001267550.2(TTN): c.95358C> G (p.Asn31786Lys) single nucleotide variant Pathogenic rs869320743 GRCh37 Chromosome 2, 179410605: 179410605
18 TTN NM_001267550.2(TTN): c.95358C> G (p.Asn31786Lys) single nucleotide variant Pathogenic rs869320743 GRCh38 Chromosome 2, 178545878: 178545878
19 TTN NM_001256850.1(TTN): c.97348C> T (p.Arg32450Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs140319117 GRCh37 Chromosome 2, 179399071: 179399071
20 TTN NM_001256850.1(TTN): c.97348C> T (p.Arg32450Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs140319117 GRCh38 Chromosome 2, 178534344: 178534344
21 TTN NM_001256850.1(TTN): c.95477T> G (p.Val31826Gly) single nucleotide variant Uncertain significance rs200166942 GRCh37 Chromosome 2, 179401074: 179401074
22 TTN NM_001256850.1(TTN): c.95477T> G (p.Val31826Gly) single nucleotide variant Uncertain significance rs200166942 GRCh38 Chromosome 2, 178536347: 178536347
23 TTN NM_133378.4(TTN): c.89227A> G (p.Met29743Val) single nucleotide variant Uncertain significance rs727504981 GRCh37 Chromosome 2, 179407650: 179407650
24 TTN NM_133378.4(TTN): c.89227A> G (p.Met29743Val) single nucleotide variant Uncertain significance rs727504981 GRCh38 Chromosome 2, 178542923: 178542923
25 TTN NM_133379.4(TTN): c.*265+198852C> T single nucleotide variant Conflicting interpretations of pathogenicity rs373871146 GRCh37 Chromosome 2, 179411195: 179411195
26 TTN NM_133379.4(TTN): c.*265+198852C> T single nucleotide variant Conflicting interpretations of pathogenicity rs373871146 GRCh38 Chromosome 2, 178546468: 178546468
27 TTN NM_133378.4(TTN): c.84980G> A (p.Arg28327Gln) single nucleotide variant Uncertain significance rs200141081 GRCh37 Chromosome 2, 179413669: 179413669
28 TTN NM_133378.4(TTN): c.84980G> A (p.Arg28327Gln) single nucleotide variant Uncertain significance rs200141081 GRCh38 Chromosome 2, 178548942: 178548942
29 TTN NM_001256850.1(TTN): c.85066T> A (p.Leu28356Met) single nucleotide variant Conflicting interpretations of pathogenicity rs369855092 GRCh37 Chromosome 2, 179417638: 179417638
30 TTN NM_001256850.1(TTN): c.85066T> A (p.Leu28356Met) single nucleotide variant Conflicting interpretations of pathogenicity rs369855092 GRCh38 Chromosome 2, 178552911: 178552911
31 TTN NM_133378.4(TTN): c.79433T> G (p.Met26478Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs143975327 GRCh37 Chromosome 2, 179422944: 179422944
32 TTN NM_133378.4(TTN): c.79433T> G (p.Met26478Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs143975327 GRCh38 Chromosome 2, 178558217: 178558217
33 TTN NM_001256850.1(TTN): c.77015G> A (p.Gly25672Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs199670463 GRCh37 Chromosome 2, 179428921: 179428921
34 TTN NM_001256850.1(TTN): c.77015G> A (p.Gly25672Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs199670463 GRCh38 Chromosome 2, 178564194: 178564194
35 TTN NM_133378.4(TTN): c.73154C> T (p.Thr24385Met) single nucleotide variant Conflicting interpretations of pathogenicity rs377506142 GRCh37 Chromosome 2, 179430001: 179430001
36 TTN NM_133378.4(TTN): c.73154C> T (p.Thr24385Met) single nucleotide variant Conflicting interpretations of pathogenicity rs377506142 GRCh38 Chromosome 2, 178565274: 178565274
37 TTN NM_133378.4(TTN): c.72997A> G (p.Ile24333Val) single nucleotide variant Conflicting interpretations of pathogenicity rs201562505 GRCh37 Chromosome 2, 179430158: 179430158
38 TTN NM_133378.4(TTN): c.72997A> G (p.Ile24333Val) single nucleotide variant Conflicting interpretations of pathogenicity rs201562505 GRCh38 Chromosome 2, 178565431: 178565431
39 TTN NM_001267550.2(TTN): c.80115G> T (p.Glu26705Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs558830502 GRCh37 Chromosome 2, 179430744: 179430744
40 TTN NM_001267550.2(TTN): c.80115G> T (p.Glu26705Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs558830502 GRCh38 Chromosome 2, 178566017: 178566017
41 TTN NM_133378.4(TTN): c.43974C> T (p.Asn14658=) single nucleotide variant Conflicting interpretations of pathogenicity rs372635204 GRCh37 Chromosome 2, 179474472: 179474472
42 TTN NM_133378.4(TTN): c.43974C> T (p.Asn14658=) single nucleotide variant Conflicting interpretations of pathogenicity rs372635204 GRCh38 Chromosome 2, 178609745: 178609745
43 TTN NM_001256850.1(TTN): c.43055C> A (p.Thr14352Asn) single nucleotide variant Uncertain significance rs727503622 GRCh37 Chromosome 2, 179481638: 179481638
44 TTN NM_001256850.1(TTN): c.43055C> A (p.Thr14352Asn) single nucleotide variant Uncertain significance rs727503622 GRCh38 Chromosome 2, 178616911: 178616911
45 TTN NM_133378.4(TTN): c.39143C> T (p.Thr13048Met) single nucleotide variant Conflicting interpretations of pathogenicity rs368057764 GRCh37 Chromosome 2, 179483430: 179483430
46 TTN NM_133378.4(TTN): c.39143C> T (p.Thr13048Met) single nucleotide variant Conflicting interpretations of pathogenicity rs368057764 GRCh38 Chromosome 2, 178618703: 178618703
47 TTN NM_001267550.2(TTN): c.107961T> C (p.His35987=) single nucleotide variant Conflicting interpretations of pathogenicity rs377439315 GRCh37 Chromosome 2, 179391754: 179391754
48 TTN NM_001267550.2(TTN): c.107961T> C (p.His35987=) single nucleotide variant Conflicting interpretations of pathogenicity rs377439315 GRCh38 Chromosome 2, 178527027: 178527027
49 TTN NM_133378.4(TTN): c.65900C> A (p.Ser21967Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs201804005 GRCh37 Chromosome 2, 179437255: 179437255
50 TTN NM_133378.4(TTN): c.65900C> A (p.Ser21967Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs201804005 GRCh38 Chromosome 2, 178572528: 178572528

Expression for Hereditary Myopathy with Early Respiratory Failure

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

Pathways for Hereditary Myopathy with Early Respiratory Failure

GO Terms for Hereditary Myopathy with Early Respiratory Failure

Sources for Hereditary 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....