HMERF
MCID: HRD141
MIFTS: 25

Hereditary Proximal Myopathy with Early Respiratory Failure (HMERF)

Categories: Muscle diseases, Rare diseases, Respiratory 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 20 6
Hereditary Myopathy with Early Respiratory Failure 20 70
Hereditary Inclusion Body Myopathy with Early Respiratory Failure 20
Myopathy, Proximal, with Early Respiratory Muscle Involvement 20
Myofibrillar Myopathy with Early Respiratory Failure 20
Myofibrillar Myopathy-Titinopathy 20
Edström Myopathy 20
Mfm-Titinopathy 20
Hmerf-Erf 20
Hibm-Erf 20
Admerf 20
Hmerf 20

Classifications:



External Ids:

UMLS 70 C1863599

Summaries for Hereditary Proximal Myopathy with Early Respiratory Failure

MalaCards based summary : Hereditary Proximal Myopathy with Early Respiratory Failure, also known as hereditary myopathy with early respiratory failure, is related to myopathy, myofibrillar, 9, with early respiratory failure and respiratory failure. An important gene associated with Hereditary Proximal Myopathy with Early Respiratory Failure is TTN (Titin).

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:

(show all 46)
# Related Disease Score Top Affiliating Genes
1 myopathy, myofibrillar, 9, with early respiratory failure 32.8 TTN-AS1 TTN
2 respiratory failure 30.9 TTN-AS1 TTN
3 muscular dystrophy, limb-girdle, autosomal recessive 10 30.1 TTN-AS1 TTN
4 myofibrillar myopathy 30.1 TTN-AS1 TTN
5 cardiomyopathy, dilated, 1g 30.0 TTN-AS1 TTN
6 myopathy 10.8
7 familial isolated dilated cardiomyopathy 10.4
8 ocular motor apraxia 10.1
9 rigid spine muscular dystrophy 1 10.1
10 miyoshi muscular dystrophy 10.1
11 muscular atrophy 10.1
12 cytoplasmic body myopathy 10.1
13 reducing body myopathy 10.1
14 left ventricular noncompaction 2 9.9 TTN-AS1 TTN
15 left ventricular noncompaction 9.9 TTN-AS1 TTN
16 autosomal dominant distal myopathy 9.9 TTN-AS1 TTN
17 multiminicore disease 9.9 TTN-AS1 TTN
18 salih myopathy 9.9 TTN-AS1 TTN
19 third-degree atrioventricular block 9.9 TTN-AS1 TTN
20 atrioventricular block 9.9 TTN-AS1 TTN
21 cardiomyopathy, familial hypertrophic, 9 9.8 TTN-AS1 TTN
22 arrhythmogenic right ventricular dysplasia, familial, 1 9.8 TTN-AS1 TTN
23 epidermolysis bullosa simplex with muscular dystrophy 9.8 TTN-AS1 TTN
24 muscular dystrophy 9.8 TTN-AS1 TTN
25 lmna-related dilated cardiomyopathy 9.8 TTN-AS1 TTN
26 tibial muscular dystrophy 9.8 TTN-AS1 TTN
27 tibial muscular dystrophy, tardive 9.8 TTN-AS1 TTN
28 batten-turner congenital myopathy 9.8 TTN-AS1 TTN
29 cardiomyopathy, dilated, 1h 9.8 TTN-AS1 TTN
30 cardiomyopathy, dilated, 1a 9.8 TTN-AS1 TTN
31 wolff-parkinson-white syndrome 9.8 TTN-AS1 TTN
32 cardiomyopathy, dilated, 1b 9.8 TTN-AS1 TTN
33 orthostatic intolerance 9.8 TTN-AS1 TTN
34 centronuclear myopathy 9.8 TTN-AS1 TTN
35 autosomal recessive limb-girdle muscular dystrophy 9.8 TTN-AS1 TTN
36 limb-girdle muscular dystrophy 9.8 TTN-AS1 TTN
37 cardiomyopathy, dilated, 1e 9.8 TTN-AS1 TTN
38 restrictive cardiomyopathy 9.8 TTN-AS1 TTN
39 muscular dystrophy, congenital, lmna-related 9.8 TTN-AS1 TTN
40 atrial fibrillation 9.8 TTN-AS1 TTN
41 atrial standstill 1 9.7 TTN-AS1 TTN
42 brugada syndrome 9.7 TTN-AS1 TTN
43 neuromuscular disease 9.7 TTN-AS1 TTN
44 long qt syndrome 9.7 TTN-AS1 TTN
45 scoliosis 9.7 TTN-AS1 TTN
46 hypertrophic cardiomyopathy 9.5 TTN-AS1 TTN

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



Diseases related to Hereditary Proximal Myopathy with Early Respiratory Failure

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:

(show all 34)
# Title Authors PMID Year
1
Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure. 61 6
23486992 2014
2
Hereditary myopathy with early respiratory failure: occurrence in various populations. 6 61
23606733 2014
3
Hereditary myopathy with early respiratory failure associated with a mutation in A-band titin. 6 61
22577218 2012
4
Titin mutation segregates with hereditary myopathy with early respiratory failure. 6 61
22577215 2012
5
Titinopathy in a Canadian family sharing the British founder haplotype. 6
24384345 2014
6
Truncations of titin causing dilated cardiomyopathy. 6
22335739 2012
7
Subclinical semitendinosus and obturator externus involvement defines an autosomal dominant myopathy with early respiratory failure. 6
16084088 2005
8
The kinase domain of titin controls muscle gene expression and protein turnover. 6
15802564 2005
9
A novel autosomal dominant distal myopathy with early respiratory failure: clinico-pathologic characteristics and exclusion of linkage to candidate genetic loci. 6
11310621 2001
10
Autosomal dominant myopathy with proximal weakness and early respiratory muscle involvement maps to chromosome 2q. 6
10053013 1999
11
Titinopathy, an atypical respiratory failure. 61
32912888 2020
12
[Selective muscular atrophy in a family with hereditary myopathy with early respiratory failure]. 61
32307395 2020
13
Expanding the Clinico-Genetic Spectrum of Myofibrillar Myopathy: Experience From a Chinese Neuromuscular Center. 61
33041974 2020
14
Titin in muscular dystrophy and cardiomyopathy: Urinary titin as a novel marker. 61
30959043 2019
15
Expanding the importance of HMERF titinopathy: new mutations and clinical aspects. 61
30666435 2019
16
Loss of Sarcomeric Scaffolding as a Common Baseline Histopathologic Lesion in Titin-Related Myopathies. 61
30365001 2018
17
Hereditary myopathy with early respiratory failure (HMERF): Still rare, but common enough. 61
29361395 2018
18
Cardiac involvement in hereditary myopathy with early respiratory failure: A cohort study. 61
27511179 2016
19
Myofibrillar myopathies: State of the art, present and future challenges. 61
26342832 2015
20
Diagnosis of muscle diseases presenting with early respiratory failure. 61
25377282 2015
21
Necklace cytoplasmic bodies in hereditary myopathy with early respiratory failure. 61
25253871 2015
22
New disease allele and de novo mutation indicate mutational vulnerability of titin exon 343 in hereditary myopathy with early respiratory failure. 61
25500009 2015
23
Reply: Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain. 61
24569025 2014
24
Reply: Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain. 61
24578547 2014
25
Hereditary myopathy with early respiratory failure is associated with misfolding of the titin fibronectin III 119 subdomain. 61
24636144 2014
26
Reply: Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain. 61
24271327 2014
27
Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain. 61
24231549 2014
28
A new disease allele for the p.C30071R mutation in titin causing hereditary myopathy with early respiratory failure. 61
24444549 2014
29
Think worldwide: hereditary myopathy with early respiratory failure (HMERF) may not be rare. 61
23695499 2014
30
Hereditary Myopathy with Early Respiratory Failure 61
24575448 2014
31
Exome sequencing identifies a novel TTN mutation in a family with hereditary myopathy with early respiratory failure. 61
23446887 2013
32
Exome sequencing identifies titin mutations causing hereditary myopathy with early respiratory failure (HMERF) in families of diverse ethnic origins. 61
23514108 2013
33
[Myofibrillar myopaathy]. 61
24291893 2013
34
An Italian case of hereditary myopathy with early respiratory failure (HMERF) not associated with the titin kinase domain R279W mutation. 61
20708934 2010

Variations for Hereditary Proximal Myopathy with Early Respiratory Failure

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

6 (show top 50) (show all 2016)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TTN-AS1 , TTN NM_001267550.2(TTN):c.95358C>G (p.Asn31786Lys) SNV Pathogenic 132138 rs869320743 GRCh37: 2:179410605-179410605
GRCh38: 2:178545878-178545878
2 TTN-AS1 , TTN NM_001267550.2(TTN):c.95186G>T (p.Trp31729Leu) SNV Pathogenic 132135 rs786205367 GRCh37: 2:179410777-179410777
GRCh38: 2:178546050-178546050
3 TTN-AS1 , TTN NM_001267550.2(TTN):c.95185T>C (p.Trp31729Arg) SNV Pathogenic 132134 rs869320741 GRCh37: 2:179410778-179410778
GRCh38: 2:178546051-178546051
4 TTN NM_133378.4(TTN):c.10361-1G>A SNV Pathogenic 223347 rs869312099 GRCh37: 2:179603088-179603088
GRCh38: 2:178738361-178738361
5 TTN-AS1 , TTN NM_001267550.2(TTN):c.95126C>G (p.Pro31709Arg) SNV Pathogenic 132132 rs869320739 GRCh37: 2:179410837-179410837
GRCh38: 2:178546110-178546110
6 TTN-AS1 , TTN NM_001267550.2(TTN):c.95134T>C (p.Cys31712Arg) SNV Pathogenic 132133 rs869320740 GRCh37: 2:179410829-179410829
GRCh38: 2:178546102-178546102
7 TTN-AS1 , TTN NM_001267550.2(TTN):c.82657G>T (p.Gly27553Ter) SNV Pathogenic 488810 rs869178171 GRCh37: 2:179428202-179428202
GRCh38: 2:178563475-178563475
8 TTN-AS1 , TTN NM_001267550.2(TTN):c.67495C>T (p.Arg22499Ter) SNV Pathogenic 180573 rs574660186 GRCh37: 2:179444429-179444429
GRCh38: 2:178579702-178579702
9 TTN-AS1 , TTN NM_001267550.2(TTN):c.75134_75137AGAA[1] (p.Lys25046fs) Microsatellite Pathogenic 202467 rs794729340 GRCh37: 2:179435718-179435721
GRCh38: 2:178570991-178570994
10 TTN-AS1 , TTN NM_001267550.2(TTN):c.95195C>T (p.Pro31732Leu) SNV Pathogenic 132137 rs753334568 GRCh37: 2:179410768-179410768
GRCh38: 2:178546041-178546041
11 TTN-AS1 , TTN NM_001267550.2(TTN):c.78178G>T (p.Glu26060Ter) SNV Pathogenic 202409 rs794729289 GRCh37: 2:179432681-179432681
GRCh38: 2:178567954-178567954
12 TTN-AS1 , TTN NM_001267550.2(TTN):c.107635C>T (p.Gln35879Ter) SNV Pathogenic 202529 rs757082154 GRCh37: 2:179392218-179392218
GRCh38: 2:178527491-178527491
13 TTN NM_001267550.2(TTN):c.34855+1G>A SNV Pathogenic 202361 rs377319699 GRCh37: 2:179537361-179537361
GRCh38: 2:178672634-178672634
14 TTN NM_001267550.2(TTN):c.16288C>T (p.Arg5430Ter) SNV Pathogenic 282527 rs772235481 GRCh37: 2:179597615-179597615
GRCh38: 2:178732888-178732888
15 TTN NM_001267550.2(TTN):c.2371-1G>A SNV Pathogenic 582625 rs755365744 GRCh37: 2:179650470-179650470
GRCh38: 2:178785743-178785743
16 TTN NM_001267550.2(TTN):c.32095+1G>A SNV Pathogenic 166113 rs727503636 GRCh37: 2:179553779-179553779
GRCh38: 2:178689052-178689052
17 TTN-AS1 , TTN NM_001267550.2(TTN):c.49648+2del Deletion Pathogenic 179411 rs727504851 GRCh37: 2:179477886-179477886
GRCh38: 2:178613159-178613159
18 TTN-AS1 , TTN NM_001267550.2(TTN):c.86640C>G (p.Tyr28880Ter) SNV Pathogenic 202421 rs794729298 GRCh37: 2:179424219-179424219
GRCh38: 2:178559492-178559492
19 TTN-AS1 , TTN NM_001267550.2(TTN):c.103758_103759del (p.Arg34586fs) Microsatellite Pathogenic 1031603 GRCh37: 2:179397583-179397584
GRCh38: 2:178532856-178532857
20 TTN NM_001267550.2(TTN):c.25383del (p.Lys8461fs) Deletion Pathogenic 1033056 GRCh37: 2:179582078-179582078
GRCh38: 2:178717351-178717351
21 TTN NM_001267550.2(TTN):c.19426+2T>A SNV Pathogenic 179861 rs727505178 GRCh37: 2:179593225-179593225
GRCh38: 2:178728498-178728498
22 TTN NM_001267550.2(TTN):c.19597_19598GA[2] (p.Arg6534fs) Microsatellite Pathogenic 423358 rs1064796380 GRCh37: 2:179592949-179592950
GRCh38: 2:178728222-178728223
23 TTN NM_001267550.2(TTN):c.1800+1G>A SNV Pathogenic 46689 rs397517497 GRCh37: 2:179655434-179655434
GRCh38: 2:178790707-178790707
24 TTN-AS1 , TTN NM_001267550.2(TTN):c.62066G>A (p.Trp20689Ter) SNV Pathogenic 1034244 GRCh37: 2:179454386-179454386
GRCh38: 2:178589659-178589659
25 TTN NM_001267550.2(TTN):c.11311+4837C>T SNV Pathogenic 1033054 GRCh37: 2:179613014-179613014
GRCh38: 2:178748287-178748287
26 TTN NM_001267550.2(TTN):c.2224del (p.Ser742fs) Deletion Likely pathogenic 974779 GRCh37: 2:179650721-179650721
GRCh38: 2:178785994-178785994
27 TTN-AS1 , TTN NM_001267550.2(TTN):c.91615_91616dup (p.Gly30541fs) Duplication Likely pathogenic 617581 rs1559187287 GRCh37: 2:179414948-179414949
GRCh38: 2:178550221-178550222
28 TTN NM_001267550.2(TTN):c.22480T>C (p.Ser7494Pro) SNV Likely pathogenic 617582 rs1560689563 GRCh37: 2:179587034-179587034
GRCh38: 2:178722307-178722307
29 TTN-AS1 , TTN NM_001267550.2(TTN):c.89221dup (p.Ile29741fs) Duplication Likely pathogenic 417932 rs1553543413 GRCh37: 2:179418510-179418511
GRCh38: 2:178553783-178553784
30 TTN GRCh37/hg19 2q31.2(chr2:179403525-179655493) copy number loss Likely pathogenic 625774 GRCh37: 2:179403525-179655493
GRCh38:
31 TTN-AS1 , TTN NM_001267550.2(TTN):c.52948G>A (p.Ala17650Thr) SNV Conflicting interpretations of pathogenicity 202706 rs535008556 GRCh37: 2:179472566-179472566
GRCh38: 2:178607839-178607839
32 TTN-AS1 , TTN NM_001267550.2(TTN):c.72146T>C (p.Leu24049Pro) SNV Conflicting interpretations of pathogenicity 191903 rs56399205 GRCh37: 2:179438713-179438713
GRCh38: 2:178573986-178573986
33 TTN NM_001267550.2(TTN):c.7523A>G (p.His2508Arg) SNV Conflicting interpretations of pathogenicity 196801 rs146970027 GRCh37: 2:179638260-179638260
GRCh38: 2:178773533-178773533
34 TTN NM_001267550.2(TTN):c.39044-9T>A SNV Conflicting interpretations of pathogenicity 166093 rs184888200 GRCh37: 2:179517277-179517277
GRCh38: 2:178652550-178652550
35 TTN NM_001267550.2(TTN):c.20341G>A (p.Glu6781Lys) SNV Conflicting interpretations of pathogenicity 46671 rs72648958 GRCh37: 2:179590708-179590708
GRCh38: 2:178725981-178725981
36 TTN-AS1 , TTN NM_001267550.2(TTN):c.69821G>A (p.Gly23274Asp) SNV Conflicting interpretations of pathogenicity 47277 rs201043950 GRCh37: 2:179441038-179441038
GRCh38: 2:178576311-178576311
37 TTN NM_001267550.2(TTN):c.24891G>T (p.Trp8297Cys) SNV Uncertain significance 167799 rs727504205 GRCh37: 2:179582842-179582842
GRCh38: 2:178718115-178718115
38 TTN-AS1 , TTN NM_001267550.2(TTN):c.100400T>G (p.Val33467Gly) SNV Uncertain significance 165664 rs200166942 GRCh37: 2:179401074-179401074
GRCh38: 2:178536347-178536347
39 TTN-AS1 , TTN NM_001267550.2(TTN):c.68824G>A (p.Glu22942Lys) SNV Uncertain significance 96298 rs199506676 GRCh37: 2:179442329-179442329
GRCh38: 2:178577602-178577602
40 TTN NM_001267550.2(TTN):c.37408G>T (p.Val12470Leu) SNV Uncertain significance 96282 rs398124448 GRCh37: 2:179523777-179523777
GRCh38: 2:178659050-178659050
41 TTN NM_001267550.2(TTN):c.2371-1G>A SNV Uncertain significance 582625 rs755365744 GRCh37: 2:179650470-179650470
GRCh38: 2:178785743-178785743
42 TTN NM_001267550.2(TTN):c.32872C>A (p.Pro10958Thr) SNV Uncertain significance 893297 GRCh37: 2:179547953-179547953
GRCh38: 2:178683226-178683226
43 TTN-AS1 , TTN NM_001267550.2(TTN):c.105514_105516del (p.Ser35172del) Deletion Uncertain significance 180582 rs573843615 GRCh37: 2:179395826-179395828
GRCh38: 2:178531099-178531101
44 TTN NM_001267550.2(TTN):c.11008A>C (p.Thr3670Pro) SNV Uncertain significance 203180 rs794729589 GRCh37: 2:179621195-179621195
GRCh38: 2:178756468-178756468
45 TTN NM_001267550.2(TTN):c.11311+4835T>A SNV Uncertain significance 1033053 GRCh37: 2:179613016-179613016
GRCh38: 2:178748289-178748289
46 TTN NM_001267550.2(TTN):c.9167G>A (p.Arg3056His) SNV Uncertain significance 809095 rs547301978 GRCh37: 2:179632879-179632879
GRCh38: 2:178768152-178768152
47 TTN-AS1 , TTN NM_001267550.2(TTN):c.102877A>G (p.Lys34293Glu) SNV Uncertain significance 47656 rs72629783 GRCh37: 2:179398465-179398465
GRCh38: 2:178533738-178533738
48 TTN NM_001267550.2(TTN):c.6816A>T (p.Glu2272Asp) SNV Uncertain significance 535405 rs1554002953 GRCh37: 2:179639175-179639175
GRCh38: 2:178774448-178774448
49 TTN NM_001267550.2(TTN):c.43422A>T (p.Glu14474Asp) SNV Uncertain significance 535326 rs998106657 GRCh37: 2:179497311-179497311
GRCh38: 2:178632584-178632584
50 TTN-AS1 , TTN NM_001267550.2(TTN):c.46354T>G (p.Cys15452Gly) SNV Uncertain significance 1031090 GRCh37: 2:179484790-179484790
GRCh38: 2:178620063-178620063

Expression for Hereditary Proximal Myopathy with Early Respiratory Failure

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GO Terms for Hereditary Proximal Myopathy with Early Respiratory Failure

Sources for Hereditary Proximal Myopathy with Early Respiratory Failure

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