HMERF
MCID: HRD073
MIFTS: 31

Hereditary Myopathy with Early Respiratory Failure (HMERF)

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
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
Mprm 57

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 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 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 11.5
2 respiratory failure 10.7
3 myopathy 10.7
4 myofibrillar myopathy 10.2
5 muscle disorders 10.0
6 left ventricular noncompaction 2 9.9 TTN TTN-AS1
7 left ventricular noncompaction 9.9 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

Clinical features from OMIM:

603689

Human phenotypes related to Hereditary Myopathy with Early Respiratory Failure:

59 32 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 proximal muscle weakness 59 32 Occasional (29-5%) HP:0003701
2 neck flexor weakness 59 32 Frequent (79-30%) HP:0003722
3 foot dorsiflexor weakness 59 32 Frequent (79-30%) HP:0009027
4 gait disturbance 59 Frequent (79-30%)
5 dyspnea 59 Frequent (79-30%)
6 respiratory insufficiency due to muscle weakness 59 Frequent (79-30%)
7 elevated serum creatine phosphokinase 59 Frequent (79-30%)
8 skeletal muscle atrophy 59 Frequent (79-30%)
9 falls 59 Very rare (<4-1%)
10 emg: myopathic abnormalities 59 Frequent (79-30%)
11 rimmed vacuoles 59 Frequent (79-30%)
12 type 1 muscle fiber predominance 59 Frequent (79-30%)
13 increased variability in muscle fiber diameter 59 Frequent (79-30%)
14 reduced vital capacity 59 Frequent (79-30%)
15 calf muscle hypertrophy 59 Occasional (29-5%)
16 distal muscle weakness 59 Occasional (29-5%)
17 restrictive deficit on pulmonary function testing 59 Frequent (79-30%)
18 muscle fiber splitting 59 Frequent (79-30%)
19 limited hip movement 59 Frequent (79-30%)
20 necrotizing myopathy 59 Frequent (79-30%)
21 orthopnea 59 Frequent (79-30%)
22 internally nucleated skeletal muscle fibers 59 Frequent (79-30%)
23 tibialis muscle weakness 59 Occasional (29-5%)
24 muscle fiber hypertrophy 59 Occasional (29-5%)
25 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

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

41
Skeletal Muscle, Testes

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
Think worldwide: hereditary myopathy with early respiratory failure (HMERF) may not be rare. ( 23695499 )
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
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 2017)
# 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.835C> T (p.Arg279Trp) single nucleotide variant Uncertain significance rs138060032 GRCh37 Chromosome 2, 179664293: 179664293
4 TTN NM_001256850.1(TTN): c.835C> T (p.Arg279Trp) single nucleotide variant Uncertain significance rs138060032 GRCh38 Chromosome 2, 178799566: 178799566
5 TTN NM_001256850.1(TTN): c.102966delA (p.Lys34322Asnfs) deletion Pathogenic rs281864930 GRCh37 Chromosome 2, 179391826: 179391826
6 TTN NM_001256850.1(TTN): c.102966delA (p.Lys34322Asnfs) deletion Pathogenic rs281864930 GRCh38 Chromosome 2, 178527099: 178527099
7 TTN TTN: c.1003G> A (p.Val335Met) single nucleotide variant Benign/Likely benign rs72647846 GRCh37 Chromosome 2, 179659891: 179659891
8 TTN TTN: c.1003G> A (p.Val335Met) single nucleotide variant Benign/Likely benign rs72647846 GRCh38 Chromosome 2, 178795164: 178795164
9 TTN NM_133378.4(TTN): c.10256G> A (p.Ser3419Asn) single nucleotide variant Benign/Likely benign rs2291310 GRCh37 Chromosome 2, 179623758: 179623758
10 TTN NM_133378.4(TTN): c.10256G> A (p.Ser3419Asn) single nucleotide variant Benign/Likely benign rs2291310 GRCh38 Chromosome 2, 178759031: 178759031
11 TTN NM_133378.4(TTN): c.10793G> A (p.Arg3598Lys) single nucleotide variant Benign/Likely benign rs2742347 GRCh37 Chromosome 2, 179600648: 179600648
12 TTN NM_133378.4(TTN): c.10793G> A (p.Arg3598Lys) single nucleotide variant Benign/Likely benign rs2742347 GRCh38 Chromosome 2, 178735921: 178735921
13 TTN NM_133378.4(TTN): c.1079G> C (p.Arg360Thr) single nucleotide variant Benign/Likely benign rs56128843 GRCh37 Chromosome 2, 179659815: 179659815
14 TTN NM_133378.4(TTN): c.1079G> C (p.Arg360Thr) single nucleotide variant Benign/Likely benign rs56128843 GRCh38 Chromosome 2, 178795088: 178795088
15 TTN NM_133378.4(TTN): c.10878C> T (p.Ser3626=) single nucleotide variant Benign/Likely benign rs2742348 GRCh37 Chromosome 2, 179600563: 179600563
16 TTN NM_133378.4(TTN): c.10878C> T (p.Ser3626=) single nucleotide variant Benign/Likely benign rs2742348 GRCh38 Chromosome 2, 178735836: 178735836
17 TTN NM_133378.4(TTN): c.11033G> A (p.Ser3678Asn) single nucleotide variant Benign/Likely benign rs184740744 GRCh37 Chromosome 2, 179600408: 179600408
18 TTN NM_133378.4(TTN): c.11033G> A (p.Ser3678Asn) single nucleotide variant Benign/Likely benign rs184740744 GRCh38 Chromosome 2, 178735681: 178735681
19 TTN NM_133378.4(TTN): c.11252C> G (p.Pro3751Arg) single nucleotide variant Benign/Likely benign rs72648927 GRCh37 Chromosome 2, 179599667: 179599667
20 TTN NM_133378.4(TTN): c.11252C> G (p.Pro3751Arg) single nucleotide variant Benign/Likely benign rs72648927 GRCh38 Chromosome 2, 178734940: 178734940
21 TTN NM_133378.4(TTN): c.11446G> A (p.Val3816Ile) single nucleotide variant Benign/Likely benign rs72648929 GRCh37 Chromosome 2, 179599473: 179599473
22 TTN NM_133378.4(TTN): c.11446G> A (p.Val3816Ile) single nucleotide variant Benign/Likely benign rs72648929 GRCh38 Chromosome 2, 178734746: 178734746
23 TTN NM_133378.4(TTN): c.11446G> C (p.Val3816Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs72648929 GRCh37 Chromosome 2, 179599473: 179599473
24 TTN NM_133378.4(TTN): c.11446G> C (p.Val3816Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs72648929 GRCh38 Chromosome 2, 178734746: 178734746
25 TTN NM_003319.4(TTN): c.13282+4410G> A single nucleotide variant Benign/Likely benign rs72648932 GRCh37 Chromosome 2, 179598399: 179598399
26 TTN NM_003319.4(TTN): c.13282+4410G> A single nucleotide variant Benign/Likely benign rs72648932 GRCh38 Chromosome 2, 178733672: 178733672
27 TTN TTN: c.15792T> C (p.Ile5264=) single nucleotide variant Benign/Likely benign rs12993099 GRCh37 Chromosome 2, 179598228: 179598228
28 TTN TTN: c.15792T> C (p.Ile5264=) single nucleotide variant Benign/Likely benign rs12993099 GRCh38 Chromosome 2, 178733501: 178733501
29 TTN NM_133378.4(TTN): c.12363C> T (p.Asn4121=) single nucleotide variant Benign/Likely benign rs72648935 GRCh37 Chromosome 2, 179597808: 179597808
30 TTN NM_133378.4(TTN): c.12363C> T (p.Asn4121=) single nucleotide variant Benign/Likely benign rs72648935 GRCh38 Chromosome 2, 178733081: 178733081
31 TTN NM_133378.4(TTN): c.12381T> C (p.Asn4127=) single nucleotide variant Conflicting interpretations of pathogenicity rs143845692 GRCh37 Chromosome 2, 179597790: 179597790
32 TTN NM_133378.4(TTN): c.12381T> C (p.Asn4127=) single nucleotide variant Conflicting interpretations of pathogenicity rs143845692 GRCh38 Chromosome 2, 178733063: 178733063
33 TTN NM_133378.4(TTN): c.12571G> A (p.Val4191Met) single nucleotide variant Conflicting interpretations of pathogenicity rs72648937 GRCh37 Chromosome 2, 179597600: 179597600
34 TTN NM_133378.4(TTN): c.12571G> A (p.Val4191Met) single nucleotide variant Conflicting interpretations of pathogenicity rs72648937 GRCh38 Chromosome 2, 178732873: 178732873
35 TTN NM_133378.4(TTN): c.12797A> G (p.Tyr4266Cys) single nucleotide variant Benign/Likely benign rs72648939 GRCh37 Chromosome 2, 179597259: 179597259
36 TTN NM_133378.4(TTN): c.12797A> G (p.Tyr4266Cys) single nucleotide variant Benign/Likely benign rs72648939 GRCh38 Chromosome 2, 178732532: 178732532
37 TTN NM_133378.4(TTN): c.13316A> G (p.Tyr4439Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs72648942 GRCh37 Chromosome 2, 179596554: 179596554
38 TTN NM_133378.4(TTN): c.13316A> G (p.Tyr4439Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs72648942 GRCh38 Chromosome 2, 178731827: 178731827
39 TTN NM_133378.4(TTN): c.13451-7C> T single nucleotide variant Conflicting interpretations of pathogenicity rs371785683 GRCh37 Chromosome 2, 179596317: 179596317
40 TTN NM_133378.4(TTN): c.13451-7C> T single nucleotide variant Conflicting interpretations of pathogenicity rs371785683 GRCh38 Chromosome 2, 178731590: 178731590
41 TTN NM_133378.4(TTN): c.1365G> A (p.Thr455=) single nucleotide variant Conflicting interpretations of pathogenicity rs145211131 GRCh37 Chromosome 2, 179659159: 179659159
42 TTN NM_133378.4(TTN): c.1365G> A (p.Thr455=) single nucleotide variant Conflicting interpretations of pathogenicity rs145211131 GRCh38 Chromosome 2, 178794432: 178794432
43 TTN NM_133378.4(TTN): c.1398+8C> T single nucleotide variant Benign/Likely benign rs72647848 GRCh37 Chromosome 2, 179659118: 179659118
44 TTN NM_133378.4(TTN): c.1398+8C> T single nucleotide variant Benign/Likely benign rs72647848 GRCh38 Chromosome 2, 178794391: 178794391
45 TTN NM_001267550.2(TTN): c.17741-9A> G single nucleotide variant Benign/Likely benign rs72648944 GRCh37 Chromosome 2, 179595528: 179595528
46 TTN NM_001267550.2(TTN): c.17741-9A> G single nucleotide variant Benign/Likely benign rs72648944 GRCh38 Chromosome 2, 178730801: 178730801
47 TTN NM_133378.4(TTN): c.14156A> G (p.Glu4719Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs146983095 GRCh37 Chromosome 2, 179595372: 179595372
48 TTN NM_133378.4(TTN): c.14156A> G (p.Glu4719Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs146983095 GRCh38 Chromosome 2, 178730645: 178730645
49 TTN NM_001256850.1(TTN): c.17038G> A (p.Ala5680Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs72648946 GRCh37 Chromosome 2, 179595271: 179595271
50 TTN NM_001256850.1(TTN): c.17038G> A (p.Ala5680Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs72648946 GRCh38 Chromosome 2, 178730544: 178730544

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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