HMERF
MCID: HRD073
MIFTS: 29

Hereditary Myopathy with Early Respiratory Failure (HMERF)

Categories: Genetic 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 58 25 26 76 30 6 74
Hmerf 58 25 26 76
Myopathy, Proximal, with Early Respiratory Muscle Involvement 58 26 13
Edstrom Myopathy 58 26 76
Myopathy, Proximal, with Early Respiratory Muscle Involvement; Mprm 58
Myofibrillar Myopathy with Early Respiratory Failure 25
Myopathy, Hereditary with Early Respiratory Failure 41
Mfm-Titinopathy 25
Mprm 58

Characteristics:

HPO:

33
hereditary myopathy with early respiratory failure:
Inheritance autosomal dominant inheritance


GeneReviews:

25
Penetrance Penetrance appears to depend on the pathogenic variant...

Classifications:



Summaries for Hereditary Myopathy with Early Respiratory Failure

Genetics Home Reference : 26 Hereditary myopathy with early respiratory failure (HMERF) is an inherited disease that affects muscles used for movement (skeletal muscles) and muscles that are needed for breathing (respiratory muscles).

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). Affiliated tissues include skeletal muscle and testes, and related phenotypes are respiratory insufficiency due to muscle weakness and skeletal muscle atrophy

UniProtKB/Swiss-Prot : 76 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 12.0
2 respiratory failure 10.7
3 myopathy 10.7
4 myofibrillar myopathy 10.2
5 left ventricular noncompaction 2 9.9 TTN TTN-AS1
6 left ventricular noncompaction 9.9 TTN TTN-AS1
7 talipes equinovarus 9.8 TTN TTN-AS1

Graphical network of the top 20 diseases related to Hereditary Myopathy with Early Respiratory Failure:



Diseases related to Hereditary Myopathy with Early Respiratory Failure

Symptoms & Phenotypes for Hereditary Myopathy with Early Respiratory Failure

Human phenotypes related to Hereditary Myopathy with Early Respiratory Failure:

33 (show all 22)
# Description HPO Frequency HPO Source Accession
1 respiratory insufficiency due to muscle weakness 33 frequent (33%) HP:0002747
2 skeletal muscle atrophy 33 frequent (33%) HP:0003202
3 emg: myopathic abnormalities 33 frequent (33%) HP:0003458
4 rimmed vacuoles 33 frequent (33%) HP:0003805
5 type 1 muscle fiber predominance 33 frequent (33%) HP:0003803
6 increased variability in muscle fiber diameter 33 frequent (33%) HP:0003557
7 neck flexor weakness 33 frequent (33%) HP:0003722
8 foot dorsiflexor weakness 33 frequent (33%) HP:0009027
9 reduced vital capacity 33 frequent (33%) HP:0002792
10 necrotizing myopathy 33 frequent (33%) HP:0008978
11 restrictive deficit on pulmonary function testing 33 frequent (33%) HP:0002111
12 muscle fiber splitting 33 frequent (33%) HP:0003555
13 internally nucleated skeletal muscle fibers 33 frequent (33%) HP:0031237
14 limited hip movement 33 frequent (33%) HP:0008800
15 orthopnea 33 frequent (33%) HP:0012764
16 elevated serum creatine kinase 33 frequent (33%) HP:0003236
17 proximal muscle weakness 33 occasional (7.5%) HP:0003701
18 calf muscle hypertrophy 33 occasional (7.5%) HP:0008981
19 tibialis muscle weakness 33 occasional (7.5%) HP:0008963
20 muscle fiber hypertrophy 33 occasional (7.5%) HP:0100293
21 falls 33 very rare (1%) HP:0002527
22 diaphragmatic weakness 33 HP:0009113

Clinical features from OMIM:

603689

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 30 TTN

Anatomical Context for Hereditary Myopathy with Early Respiratory Failure

MalaCards organs/tissues related to Hereditary Myopathy with Early Respiratory Failure:

42
Skeletal Muscle, Testes

Publications for Hereditary Myopathy with Early Respiratory Failure

Articles related to Hereditary Myopathy with Early Respiratory Failure:

(show all 19)
# Title Authors Year
1
Expanding the importance of HMERF titinopathy: new mutations and clinical aspects. ( 30666435 )
2019
2
Hereditary myopathy with early respiratory failure (HMERF): Still rare, but common enough. ( 29361395 )
2017
3
Cardiac involvement in hereditary myopathy with early respiratory failure: A cohort study. ( 27511179 )
2016
4
New disease allele and de novo mutation indicate mutational vulnerability of titin exon 343 in hereditary myopathy with early respiratory failure. ( 25500009 )
2015
5
A new disease allele for the p.C30071R mutation in titin causing hereditary myopathy with early respiratory failure. ( 24444549 )
2014
6
Necklace cytoplasmic bodies in hereditary myopathy with early respiratory failure. ( 25253871 )
2014
7
Reply: Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain. ( 24578547 )
2014
8
Reply: Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain. ( 24569025 )
2014
9
Hereditary myopathy with early respiratory failure is associated with misfolding of the titin fibronectin III 119 subdomain. ( 24636144 )
2014
10
Reply: Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain. ( 24271327 )
2013
11
Exome sequencing identifies titin mutations causing hereditary myopathy with early respiratory failure (HMERF) in families of diverse ethnic origins. ( 23514108 )
2013
12
Exome sequencing identifies a novel TTN mutation in a family with hereditary myopathy with early respiratory failure. ( 23446887 )
2013
13
Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain. ( 24231549 )
2013
14
Hereditary myopathy with early respiratory failure: occurrence in various populations. ( 23606733 )
2013
15
Think worldwide: hereditary myopathy with early respiratory failure (HMERF) may not be rare. ( 23695499 )
2013
16
Titin mutation segregates with hereditary myopathy with early respiratory failure. ( 22577215 )
2012
17
Hereditary myopathy with early respiratory failure associated with a mutation in A-band titin. ( 22577218 )
2012
18
An Italian case of hereditary myopathy with early respiratory failure (HMERF) not associated with the titin kinase domain R279W mutation. ( 20708934 )
2010
19
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:

76
# 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 2013)
# Gene Variation Type Significance SNP ID Assembly Location
1 TTN NM_001256850.1(TTN): c.97348C> T (p.Arg32450Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs140319117 GRCh38 Chromosome 2, 178534344: 178534344
2 TTN NM_001256850.1(TTN): c.97348C> T (p.Arg32450Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs140319117 GRCh37 Chromosome 2, 179399071: 179399071
3 TTN NM_001256850.1(TTN): c.95477T> G (p.Val31826Gly) single nucleotide variant Uncertain significance rs200166942 GRCh37 Chromosome 2, 179401074: 179401074
4 TTN NM_001256850.1(TTN): c.95477T> G (p.Val31826Gly) single nucleotide variant Uncertain significance rs200166942 GRCh38 Chromosome 2, 178536347: 178536347
5 TTN NM_133378.4(TTN): c.89227A> G (p.Met29743Val) single nucleotide variant Uncertain significance rs727504981 GRCh38 Chromosome 2, 178542923: 178542923
6 TTN NM_133378.4(TTN): c.89227A> G (p.Met29743Val) single nucleotide variant Uncertain significance rs727504981 GRCh37 Chromosome 2, 179407650: 179407650
7 TTN NM_133379.4(TTN): c.*265+198852C> T single nucleotide variant Conflicting interpretations of pathogenicity rs373871146 GRCh37 Chromosome 2, 179411195: 179411195
8 TTN NM_133379.4(TTN): c.*265+198852C> T single nucleotide variant Conflicting interpretations of pathogenicity rs373871146 GRCh38 Chromosome 2, 178546468: 178546468
9 TTN NM_133378.4(TTN): c.84980G> A (p.Arg28327Gln) single nucleotide variant Uncertain significance rs200141081 GRCh37 Chromosome 2, 179413669: 179413669
10 TTN NM_133378.4(TTN): c.84980G> A (p.Arg28327Gln) single nucleotide variant Uncertain significance rs200141081 GRCh38 Chromosome 2, 178548942: 178548942
11 TTN NM_001256850.1(TTN): c.85066T> A (p.Leu28356Met) single nucleotide variant Conflicting interpretations of pathogenicity rs369855092 GRCh38 Chromosome 2, 178552911: 178552911
12 TTN NM_001256850.1(TTN): c.85066T> A (p.Leu28356Met) single nucleotide variant Conflicting interpretations of pathogenicity rs369855092 GRCh37 Chromosome 2, 179417638: 179417638
13 TTN NM_133378.4(TTN): c.79433T> G (p.Met26478Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs143975327 GRCh38 Chromosome 2, 178558217: 178558217
14 TTN NM_133378.4(TTN): c.79433T> G (p.Met26478Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs143975327 GRCh37 Chromosome 2, 179422944: 179422944
15 TTN NM_001256850.1(TTN): c.77015G> A (p.Gly25672Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs199670463 GRCh37 Chromosome 2, 179428921: 179428921
16 TTN NM_001256850.1(TTN): c.77015G> A (p.Gly25672Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs199670463 GRCh38 Chromosome 2, 178564194: 178564194
17 TTN NM_133378.4(TTN): c.73154C> T (p.Thr24385Met) single nucleotide variant Conflicting interpretations of pathogenicity rs377506142 GRCh38 Chromosome 2, 178565274: 178565274
18 TTN NM_133378.4(TTN): c.73154C> T (p.Thr24385Met) single nucleotide variant Conflicting interpretations of pathogenicity rs377506142 GRCh37 Chromosome 2, 179430001: 179430001
19 TTN NM_133378.4(TTN): c.72997A> G (p.Ile24333Val) single nucleotide variant Conflicting interpretations of pathogenicity rs201562505 GRCh37 Chromosome 2, 179430158: 179430158
20 TTN NM_133378.4(TTN): c.72997A> G (p.Ile24333Val) single nucleotide variant Conflicting interpretations of pathogenicity rs201562505 GRCh38 Chromosome 2, 178565431: 178565431
21 TTN NM_001267550.2(TTN): c.80115G> T (p.Glu26705Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs558830502 GRCh38 Chromosome 2, 178566017: 178566017
22 TTN NM_001267550.2(TTN): c.80115G> T (p.Glu26705Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs558830502 GRCh37 Chromosome 2, 179430744: 179430744
23 TTN NM_133378.4(TTN): c.43974C> T (p.Asn14658=) single nucleotide variant Conflicting interpretations of pathogenicity rs372635204 GRCh37 Chromosome 2, 179474472: 179474472
24 TTN NM_133378.4(TTN): c.43974C> T (p.Asn14658=) single nucleotide variant Conflicting interpretations of pathogenicity rs372635204 GRCh38 Chromosome 2, 178609745: 178609745
25 TTN NM_001256850.1(TTN): c.43055C> A (p.Thr14352Asn) single nucleotide variant Uncertain significance rs727503622 GRCh37 Chromosome 2, 179481638: 179481638
26 TTN NM_001256850.1(TTN): c.43055C> A (p.Thr14352Asn) single nucleotide variant Uncertain significance rs727503622 GRCh38 Chromosome 2, 178616911: 178616911
27 TTN NM_133378.4(TTN): c.39143C> T (p.Thr13048Met) single nucleotide variant Conflicting interpretations of pathogenicity rs368057764 GRCh37 Chromosome 2, 179483430: 179483430
28 TTN NM_133378.4(TTN): c.39143C> T (p.Thr13048Met) single nucleotide variant Conflicting interpretations of pathogenicity rs368057764 GRCh38 Chromosome 2, 178618703: 178618703
29 TTN NM_001267550.2(TTN): c.107961T> C (p.His35987=) single nucleotide variant Conflicting interpretations of pathogenicity rs377439315 GRCh38 Chromosome 2, 178527027: 178527027
30 TTN NM_001267550.2(TTN): c.107961T> C (p.His35987=) single nucleotide variant Conflicting interpretations of pathogenicity rs377439315 GRCh37 Chromosome 2, 179391754: 179391754
31 TTN NM_133378.4(TTN): c.65900C> A (p.Ser21967Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs201804005 GRCh37 Chromosome 2, 179437255: 179437255
32 TTN NM_133378.4(TTN): c.65900C> A (p.Ser21967Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs201804005 GRCh38 Chromosome 2, 178572528: 178572528
33 TTN NM_133378.4(TTN): c.62427A> G (p.Thr20809=) single nucleotide variant Conflicting interpretations of pathogenicity rs369503828 GRCh37 Chromosome 2, 179440728: 179440728
34 TTN NM_133378.4(TTN): c.62427A> G (p.Thr20809=) single nucleotide variant Conflicting interpretations of pathogenicity rs369503828 GRCh38 Chromosome 2, 178576001: 178576001
35 TTN NM_133378.4(TTN): c.60733G> A (p.Glu20245Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs200797552 GRCh38 Chromosome 2, 178578078: 178578078
36 TTN NM_133378.4(TTN): c.60733G> A (p.Glu20245Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs200797552 GRCh37 Chromosome 2, 179442805: 179442805
37 TTN NM_133378.4(TTN): c.58456+15C> T single nucleotide variant Conflicting interpretations of pathogenicity rs377288086 GRCh38 Chromosome 2, 178582281: 178582281
38 TTN NM_133378.4(TTN): c.58456+15C> T single nucleotide variant Conflicting interpretations of pathogenicity rs377288086 GRCh37 Chromosome 2, 179447008: 179447008
39 TTN NM_133378.4(TTN): c.58042C> T (p.Arg19348Trp) single nucleotide variant Uncertain significance rs200155485 GRCh37 Chromosome 2, 179447784: 179447784
40 TTN NM_133378.4(TTN): c.58042C> T (p.Arg19348Trp) single nucleotide variant Uncertain significance rs200155485 GRCh38 Chromosome 2, 178583057: 178583057
41 TTN NM_001256850.1(TTN): c.57352G> A (p.Glu19118Lys) single nucleotide variant Uncertain significance rs562680371 GRCh37 Chromosome 2, 179454177: 179454177
42 TTN NM_001256850.1(TTN): c.57352G> A (p.Glu19118Lys) single nucleotide variant Uncertain significance rs562680371 GRCh38 Chromosome 2, 178589450: 178589450
43 TTN NM_133378.4(TTN): c.48699A> G (p.Gln16233=) single nucleotide variant Conflicting interpretations of pathogenicity rs553313488 GRCh37 Chromosome 2, 179464117: 179464117
44 TTN NM_133378.4(TTN): c.48699A> G (p.Gln16233=) single nucleotide variant Conflicting interpretations of pathogenicity rs553313488 GRCh38 Chromosome 2, 178599390: 178599390
45 TTN NM_133378.4(TTN): c.48221T> A (p.Leu16074Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs140714512 GRCh38 Chromosome 2, 178600979: 178600979
46 TTN NM_133378.4(TTN): c.48221T> A (p.Leu16074Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs140714512 GRCh37 Chromosome 2, 179465706: 179465706
47 TTN NM_133378.4(TTN): c.99673+14C> T single nucleotide variant Conflicting interpretations of pathogenicity rs367908657 GRCh38 Chromosome 2, 178528260: 178528260
48 TTN NM_133378.4(TTN): c.99673+14C> T single nucleotide variant Conflicting interpretations of pathogenicity rs367908657 GRCh37 Chromosome 2, 179392987: 179392987
49 TTN NM_001256850.1(TTN): c.101897C> T (p.Ala33966Val) single nucleotide variant Conflicting interpretations of pathogenicity rs377337528 GRCh38 Chromosome 2, 178528931: 178528931
50 TTN NM_001256850.1(TTN): c.101897C> T (p.Ala33966Val) single nucleotide variant Conflicting interpretations of pathogenicity rs377337528 GRCh37 Chromosome 2, 179393658: 179393658

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

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