MFM9
MCID: MYP153
MIFTS: 51

Myopathy, Myofibrillar, 9, with Early Respiratory Failure (MFM9)

Categories: Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Myopathy, Myofibrillar, 9, with Early Respiratory Failure

MalaCards integrated aliases for Myopathy, Myofibrillar, 9, with Early Respiratory Failure:

Name: Myopathy, Myofibrillar, 9, with Early Respiratory Failure 57 72 29 6
Hereditary Myopathy with Early Respiratory Failure 57 12 25 43 58 72 70
Hmerf 57 12 25 43 58 72
Edstrom Myopathy 57 12 43 58 72
Myopathy, Proximal, with Early Respiratory Muscle Involvement 57 43 72 13
Mfm-Titinopathy 12 25 58
Mfm9 57 12 72
Mprm 57 12 72
Myopathy, Distal, with Early Respiratory Failure, Autosomal Dominant 57 72
Hereditary Inclusion Body Myopathy with Early Respiratory Failure 12 58
Myofibrillar Myopathy 9 with Early Respiratory Failure 12 17
Myofibrillar Myopathy with Early Respiratory Failure 25 58
Myofibrillar Myopathy-Titinopathy 12 58
Myofibrillar Myopathy 9 12 15
Hibm-Erf 12 58
Myopathy, Proximal, with Early Respiratory Muscle Involvement; Mprm 57
Autosomal Dominant Distal Myopathy with Early Respiratory Failure 12
Proximal Myopathy with Early Respiratory Muscle Involvement 12
Hereditary Myopathy with Early Respiratory Failure; Hmerf 57
Myopathy, Hereditary with Early Respiratory Failure 39

Characteristics:

Orphanet epidemiological data:

58
hereditary myopathy with early respiratory failure
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide);

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
variable severity
slowly progressive
adult onset (range 20 to 70 years)
lower limb weakness is usually the presenting feature
clinical heterogeneity, even within families


HPO:

31
myopathy, myofibrillar, 9, with early respiratory failure:
Inheritance autosomal dominant inheritance
Onset and clinical course adult onset slow progression


GeneReviews:

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

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0111188
OMIM® 57 603689
OMIM Phenotypic Series 57 PS601419
MeSH 44 D009135
ICD10 via Orphanet 33 G71.0
UMLS via Orphanet 71 C1863599
Orphanet 58 ORPHA178464
MedGen 41 C1863599
UMLS 70 C1863599

Summaries for Myopathy, Myofibrillar, 9, with Early Respiratory Failure

MedlinePlus Genetics : 43 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).The major signs and symptoms of HMERF usually appear in adulthood, often in the mid-thirties. Among the earliest signs of the condition are breathing problems and difficulty walking. Weakness of the respiratory muscles, particularly the diaphragm (the muscle that separates the organs in the abdomen from those in the chest), causes breathing problems. This weakness worsens over time and can lead to life-threatening respiratory failure. Some affected individuals have weakness of muscles of the lower leg and foot, which makes it difficult to lift the toes while walking, a condition known as foot drop. Other muscles that become weak in people with HMERF include those of the hips, thighs, upper arms, and neck.When viewed under a microscope, muscle fibers from affected individuals contain abnormal structures called cytoplasmic bodies. In many cases, the cytoplasmic bodies are arranged side-by-side in a ring inside the muscle fiber, resembling a necklace (necklace cytoplasmic bodies).

MalaCards based summary : Myopathy, Myofibrillar, 9, with Early Respiratory Failure, also known as hereditary myopathy with early respiratory failure, is related to respiratory failure and reducing body myopathy. An important gene associated with Myopathy, Myofibrillar, 9, with Early Respiratory Failure is TTN (Titin), and among its related pathways/superpathways is Striated Muscle Contraction. Affiliated tissues include skeletal muscle, and related phenotypes are skeletal muscle atrophy and elevated serum creatine kinase

Disease Ontology : 12 A myofibrillar myopathy characterized by adult onset of slowly progressive muscle weakness involving the diaphragm and resulting in respiratory insufficiency that has material basis in heterozygous mutation in the TTN gene on chromosome 2q31.

OMIM® : 57 Myofibrillar myopathy-9 with early respiratory failure (MFM9) is an autosomal dominant muscle disorder characterized by adult onset of slowly progressive muscle weakness with diaphragmatic involvement causing respiratory insufficiency. Patients present between 20 and 70 years of age with distal or proximal muscle weakness, mainly affecting the lower limbs with foot drop or difficulty walking. The age at onset is highly variable, even within families. Nearly all patients eventually develop significant proximal and distal weakness, as well as respiratory insufficiency requiring nocturnal ventilation. Additional, more variable features may include axial weakness, neck muscle weakness, and rarely, cardiac involvement. Muscle biopsy shows myopathic or dystrophic changes with fiber splitting, eosinophilic cytoplasmic inclusions consistent with myofibrillar myopathy, rimmed vacuoles, and increased connective or fatty tissue (summary by Pfeffer et al., 2014). For a phenotypic description and a discussion of genetic heterogeneity of myofibrillar myopathy (MFM), see MFM1 (601419). (603689) (Updated 05-Apr-2021)

UniProtKB/Swiss-Prot : 72 Myopathy, myofibrillar, 9, with early respiratory failure: An autosomal dominant myopathy characterized by adulthood onset of weakness in proximal, distal, axial and respiratory muscles. Pelvic girdle weakness, foot drop and neck weakness are the main symptoms at onset, but ultimately the weakness usually involves the proximal compartment of both upper and lower limbs. Additional features include variable degrees of Achilles tendon contractures, spinal rigidity and muscle hypertrophy. Respiratory involvement often leads to requirement for non-invasive ventilation support.

GeneReviews: NBK185330

Related Diseases for Myopathy, Myofibrillar, 9, with Early Respiratory Failure

Diseases related to Myopathy, Myofibrillar, 9, with Early Respiratory Failure via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 98)
# Related Disease Score Top Affiliating Genes
1 respiratory failure 31.2 TTN-AS1 TTN MYH7 LOC101927055
2 reducing body myopathy 30.7 TTN NEB
3 autosomal dominant distal myopathy 30.6 TTN-AS1 TTN MYOT MYH7
4 miyoshi muscular dystrophy 30.0 TTN TCAP MYOT MYH7 FLNC CAPN3
5 rigid spine muscular dystrophy 1 30.0 TTN MYOT MYH7 LDB3 CAPN3 BAG3
6 familial isolated dilated cardiomyopathy 29.6 TTN-AS1 TTN TCAP MYH7 LDB3 CRYAB
7 myopathy 29.3 TTN-AS1 TTN TRIM63 TRIM54 TCAP NEB
8 myofibrillar myopathy 28.8 TTN-AS1 TTN TCAP NRAP NEB NBR1
9 hereditary proximal myopathy with early respiratory failure 10.6
10 cardiomyopathy, dilated, 1g 10.4
11 muscular dystrophy, limb-girdle, autosomal recessive 10 10.4
12 left ventricular noncompaction 2 10.4 TTN-AS1 TTN
13 cardioneuromyopathy with hyaline masses and nemaline rods 10.4 TTN NEB
14 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 10.4 TTN LDB3
15 scapuloperoneal syndrome, neurogenic, kaeser type 10.3 MYOT LDB3
16 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 10.3 TTN LDB3
17 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 10.3 TTN LDB3
18 multiminicore disease 10.3 TTN-AS1 TTN
19 ocular motor apraxia 10.3
20 muscular dystrophy, limb-girdle, type 1h 10.3 MYOT DNAJB6
21 autosomal recessive limb-girdle muscular dystrophy type 2l 10.3 MYOT CAPN3
22 foot drop 10.3 TTN NEB MYOT
23 muscular dystrophy, limb-girdle, autosomal recessive 4 10.3 TTN TCAP CAPN3
24 muscular dystrophy, limb-girdle, autosomal recessive 6 10.3 TTN TCAP CAPN3
25 muscular dystrophy, limb-girdle, autosomal recessive 8 10.3 TTN TCAP CAPN3
26 autosomal recessive limb-girdle muscular dystrophy type 2h 10.3 TCAP MYOT CAPN3
27 lmna-related dilated cardiomyopathy 10.3 TTN-AS1 TTN BAG3
28 autosomal recessive limb-girdle muscular dystrophy type 2c 10.3 TCAP MYOT CAPN3
29 autosomal recessive limb-girdle muscular dystrophy type 2f 10.3 TCAP MYOT CAPN3
30 cardiomyopathy, dilated, 1dd 10.3 TTN LDB3
31 cardiomyopathy, dilated, 1h 10.3 TTN-AS1 TTN BAG3
32 autosomal recessive limb-girdle muscular dystrophy type 2d 10.3 TCAP MYOT CAPN3
33 muscular dystrophy, limb-girdle, autosomal dominant 3 10.3 MYOT DNAJB6
34 central core disease of muscle 10.3 NEB MYOT
35 autosomal recessive limb-girdle muscular dystrophy type 2b 10.3 TCAP MYOT CAPN3
36 cardiac rupture 10.3 TRIM54 FLNC
37 autosomal recessive limb-girdle muscular dystrophy type 2q 10.3 TCAP MYOT DNAJB6
38 salih myopathy 10.3 TTN-AS1 TTN
39 centronuclear myopathy 10.2 TTN-AS1 TTN NEB
40 cardiomyopathy, dilated, 1a 10.2 TTN-AS1 TTN MYOT BAG3
41 muscular dystrophy, limb-girdle, autosomal recessive 7 10.2 TTN TCAP MYOT CAPN3
42 autosomal recessive limb-girdle muscular dystrophy type 2g 10.2 TTN TCAP MYOT CAPN3
43 muscular dystrophy-dystroglycanopathy , type c, 5 10.2 TTN TCAP MYOT CAPN3
44 isolated elevated serum creatine phosphokinase levels 10.2 TTN TCAP MYOT CAPN3
45 muscular dystrophy-dystroglycanopathy , type c, 4 10.2 MYOT CAPN3
46 third-degree atrioventricular block 10.2 TTN-AS1 TTN
47 emery-dreifuss muscular dystrophy 10.2 TTN MYOT LDB3 CAPN3
48 muscular dystrophy, limb-girdle, autosomal dominant 2 10.2 TCAP MYOT DNAJB6 CAPN3
49 wolff-parkinson-white syndrome 10.2 TTN-AS1 TTN MYH7
50 muscular dystrophy, limb-girdle, autosomal dominant 1 10.2 MYOT DNAJB6 CAPN3 BAG3

Graphical network of the top 20 diseases related to Myopathy, Myofibrillar, 9, with Early Respiratory Failure:



Diseases related to Myopathy, Myofibrillar, 9, with Early Respiratory Failure

Symptoms & Phenotypes for Myopathy, Myofibrillar, 9, with Early Respiratory Failure

Human phenotypes related to Myopathy, Myofibrillar, 9, with Early Respiratory Failure:

58 31 (show all 36)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 skeletal muscle atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0003202
2 elevated serum creatine kinase 58 31 frequent (33%) Frequent (79-30%) HP:0003236
3 emg: myopathic abnormalities 58 31 frequent (33%) Frequent (79-30%) HP:0003458
4 rimmed vacuoles 58 31 frequent (33%) Frequent (79-30%) HP:0003805
5 respiratory insufficiency due to muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0002747
6 type 1 muscle fiber predominance 58 31 frequent (33%) Frequent (79-30%) HP:0003803
7 reduced vital capacity 58 31 frequent (33%) Frequent (79-30%) HP:0002792
8 increased variability in muscle fiber diameter 58 31 frequent (33%) Frequent (79-30%) HP:0003557
9 foot dorsiflexor weakness 58 31 frequent (33%) Frequent (79-30%) HP:0009027
10 muscle fiber splitting 58 31 frequent (33%) Frequent (79-30%) HP:0003555
11 limited hip movement 58 31 frequent (33%) Frequent (79-30%) HP:0008800
12 neck flexor weakness 58 31 frequent (33%) Frequent (79-30%) HP:0003722
13 necrotizing myopathy 58 31 frequent (33%) Frequent (79-30%) HP:0008978
14 orthopnea 58 31 frequent (33%) Frequent (79-30%) HP:0012764
15 internally nucleated skeletal muscle fibers 58 31 frequent (33%) Frequent (79-30%) HP:0031237
16 restrictive ventilatory defect 31 frequent (33%) HP:0002091
17 calf muscle hypertrophy 58 31 very rare (1%) Occasional (29-5%) HP:0008981
18 proximal muscle weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0003701
19 tibialis muscle weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0008963
20 muscle fiber hypertrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0100293
21 falls 58 31 very rare (1%) Very rare (<4-1%) HP:0002527
22 achilles tendon contracture 31 very rare (1%) HP:0001771
23 scapular winging 31 very rare (1%) HP:0003691
24 nocturnal hypoventilation 31 very rare (1%) HP:0002877
25 gait disturbance 58 Frequent (79-30%)
26 pelvic girdle muscle weakness 31 HP:0003749
27 dyspnea 58 Frequent (79-30%)
28 respiratory failure 31 HP:0002878
29 myofibrillar myopathy 31 HP:0003715
30 restrictive deficit on pulmonary function testing 58 Frequent (79-30%)
31 distal muscle weakness 58 Occasional (29-5%)
32 quadriceps muscle weakness 31 HP:0003731
33 frequent falls 31 HP:0002359
34 diaphragmatic weakness 31 HP:0009113
35 difficulty walking 31 HP:0002355
36 shoulder girdle muscle weakness 31 HP:0003547

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Muscle Soft Tissue:
rimmed vacuoles
myofibrillar myopathy
frequent falls
difficulty walking
muscle fiber splitting
more
Respiratory:
nocturnal hypoventilation
early respiratory failure
decreased vital capacity

Laboratory Abnormalities:
increased creatine kinase, mild to moderate

Chest Diaphragm:
diaphragmatic weakness

Cardiovascular Heart:
cardiac involvement (rare)

Clinical features from OMIM®:

603689 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Myopathy, Myofibrillar, 9, with Early Respiratory Failure:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.93 BAG3 CAPN3 FLNC LDB3 MYH7 NBR1
2 homeostasis/metabolism MP:0005376 9.8 BAG3 CAPN3 CRYAB FLNC LDB3 MYH7
3 muscle MP:0005369 9.47 BAG3 CAPN3 CRYAB FLNC LDB3 MYH7

Drugs & Therapeutics for Myopathy, Myofibrillar, 9, with Early Respiratory Failure

Search Clinical Trials , NIH Clinical Center for Myopathy, Myofibrillar, 9, with Early Respiratory Failure

Genetic Tests for Myopathy, Myofibrillar, 9, with Early Respiratory Failure

Genetic tests related to Myopathy, Myofibrillar, 9, with Early Respiratory Failure:

# Genetic test Affiliating Genes
1 Myopathy, Myofibrillar, 9, with Early Respiratory Failure 29 TTN

Anatomical Context for Myopathy, Myofibrillar, 9, with Early Respiratory Failure

MalaCards organs/tissues related to Myopathy, Myofibrillar, 9, with Early Respiratory Failure:

40
Skeletal Muscle

Publications for Myopathy, Myofibrillar, 9, with Early Respiratory Failure

Articles related to Myopathy, Myofibrillar, 9, with Early Respiratory Failure:

(show all 49)
# Title Authors PMID Year
1
Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure. 57 25 6 61
23486992 2014
2
Titin mutation segregates with hereditary myopathy with early respiratory failure. 57 6 25 61
22577215 2012
3
Subclinical semitendinosus and obturator externus involvement defines an autosomal dominant myopathy with early respiratory failure. 57 25 6
16084088 2005
4
A novel autosomal dominant distal myopathy with early respiratory failure: clinico-pathologic characteristics and exclusion of linkage to candidate genetic loci. 6 57 25
11310621 2001
5
Hereditary myopathy with early respiratory failure: occurrence in various populations. 61 25 6
23606733 2014
6
Hereditary myopathy with early respiratory failure associated with a mutation in A-band titin. 6 25 61
22577218 2012
7
The kinase domain of titin controls muscle gene expression and protein turnover. 57 6
15802564 2005
8
Autosomal dominant myopathy with proximal weakness and early respiratory muscle involvement maps to chromosome 2q. 6 57
10053013 1999
9
Titinopathy in a Canadian family sharing the British founder haplotype. 25 6
24384345 2014
10
Myopathy with respiratory failure and typical myofibrillar lesions. 25 57
2376753 1990
11
Expanding the importance of HMERF titinopathy: new mutations and clinical aspects. 25 61
30666435 2019
12
Hereditary myopathy with early respiratory failure (HMERF): Still rare, but common enough. 25 61
29361395 2018
13
Necklace cytoplasmic bodies in hereditary myopathy with early respiratory failure. 25 61
25253871 2015
14
New disease allele and de novo mutation indicate mutational vulnerability of titin exon 343 in hereditary myopathy with early respiratory failure. 25 61
25500009 2015
15
Hereditary myopathy with early respiratory failure is associated with misfolding of the titin fibronectin III 119 subdomain. 61 25
24636144 2014
16
Exome sequencing identifies a novel TTN mutation in a family with hereditary myopathy with early respiratory failure. 61 25
23446887 2013
17
Exome sequencing identifies titin mutations causing hereditary myopathy with early respiratory failure (HMERF) in families of diverse ethnic origins. 25 61
23514108 2013
18
Truncations of titin causing dilated cardiomyopathy. 6
22335739 2012
19
A second locus for autosomal dominant myopathy with proximal muscle weakness and early respiratory muscle involvement: a likely chromosomal locus on 2q21. 57
10407851 1999
20
Timing, rates and spectra of human germline mutation. 25
26656846 2016
21
Respiratory management of patients with neuromuscular disease: current perspectives. 25
30050373 2016
22
Myofibrillar myopathies. 25
21256014 2011
23
ALS with respiratory onset: clinical features and effects of non-invasive ventilation on the prognosis. 25
20001486 2010
24
Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population. 25
19767415 2009
25
Mutation in BAG3 causes severe dominant childhood muscular dystrophy. 25
19085932 2009
26
Scapuloperoneal syndrome type Kaeser and a wide phenotypic spectrum of adult-onset, dominant myopathies are associated with the desmin mutation R350P. 25
17439987 2007
27
Respiratory failure as a first presentation of myasthenia gravis. 25
15567987 2004
28
Cardiac and respiratory failure in limb-girdle muscular dystrophy 2I. 25
15505776 2004
29
Severe respiratory muscle weakness related to long-term colchicine therapy. 25
14744269 2004
30
Myofibrillar myopathy caused by novel dominant negative alpha B-crystallin mutations. 25
14681890 2003
31
Cytoplasmic body neuromyopathy presenting as respiratory failure and weight loss. 25
220387 1979
32
Atypical myopathy with myofibrillar aggregates. 25
165803 1975
33
Titinopathy, an atypical respiratory failure. 61
32912888 2020
34
[Selective muscular atrophy in a family with hereditary myopathy with early respiratory failure]. 61
32307395 2020
35
Expanding the Clinico-Genetic Spectrum of Myofibrillar Myopathy: Experience From a Chinese Neuromuscular Center. 61
33041974 2020
36
Titin in muscular dystrophy and cardiomyopathy: Urinary titin as a novel marker. 61
30959043 2019
37
Loss of Sarcomeric Scaffolding as a Common Baseline Histopathologic Lesion in Titin-Related Myopathies. 61
30365001 2018
38
Cardiac involvement in hereditary myopathy with early respiratory failure: A cohort study. 61
27511179 2016
39
Myofibrillar myopathies: State of the art, present and future challenges. 61
26342832 2015
40
Diagnosis of muscle diseases presenting with early respiratory failure. 61
25377282 2015
41
Reply: Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain. 61
24569025 2014
42
Reply: Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain. 61
24578547 2014
43
Reply: Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain. 61
24271327 2014
44
Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain. 61
24231549 2014
45
Think worldwide: hereditary myopathy with early respiratory failure (HMERF) may not be rare. 61
23695499 2014
46
A new disease allele for the p.C30071R mutation in titin causing hereditary myopathy with early respiratory failure. 61
24444549 2014
47
Hereditary Myopathy with Early Respiratory Failure 61
24575448 2014
48
[Myofibrillar myopaathy]. 61
24291893 2013
49
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 Myopathy, Myofibrillar, 9, with Early Respiratory Failure

ClinVar genetic disease variations for Myopathy, Myofibrillar, 9, 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.95185T>C (p.Trp31729Arg) SNV Pathogenic 132134 rs869320741 GRCh37: 2:179410778-179410778
GRCh38: 2:178546051-178546051
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.95358C>G (p.Asn31786Lys) SNV Pathogenic 132138 rs869320743 GRCh37: 2:179410605-179410605
GRCh38: 2:178545878-178545878
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.19426+2T>A SNV Pathogenic 179861 rs727505178 GRCh37: 2:179593225-179593225
GRCh38: 2:178728498-178728498
21 TTN NM_001267550.2(TTN):c.19597_19598GA[2] (p.Arg6534fs) Microsatellite Pathogenic 423358 rs1064796380 GRCh37: 2:179592949-179592950
GRCh38: 2:178728222-178728223
22 TTN NM_001267550.2(TTN):c.1800+1G>A SNV Pathogenic 46689 rs397517497 GRCh37: 2:179655434-179655434
GRCh38: 2:178790707-178790707
23 TTN NM_001267550.2(TTN):c.25383del (p.Lys8461fs) Deletion Pathogenic 1033056 GRCh37: 2:179582078-179582078
GRCh38: 2:178717351-178717351
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-AS1 , TTN NM_001267550.2(TTN):c.61556G>A (p.Arg20519Gln) SNV Uncertain significance 167776 rs727504191 GRCh37: 2:179454896-179454896
GRCh38: 2:178590169-178590169
38 TTN NM_001267550.2(TTN):c.24891G>T (p.Trp8297Cys) SNV Uncertain significance 167799 rs727504205 GRCh37: 2:179582842-179582842
GRCh38: 2:178718115-178718115
39 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
40 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
41 TTN NM_001267550.2(TTN):c.37408G>T (p.Val12470Leu) SNV Uncertain significance 96282 rs398124448 GRCh37: 2:179523777-179523777
GRCh38: 2:178659050-178659050
42 TTN NM_001267550.2(TTN):c.2371-1G>A SNV Uncertain significance 582625 rs755365744 GRCh37: 2:179650470-179650470
GRCh38: 2:178785743-178785743
43 TTN NM_001267550.2(TTN):c.23669G>T (p.Arg7890Ile) SNV Uncertain significance 1033055 GRCh37: 2:179584550-179584550
GRCh38: 2:178719823-178719823
44 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
45 TTN NM_001267550.2(TTN):c.11008A>C (p.Thr3670Pro) SNV Uncertain significance 203180 rs794729589 GRCh37: 2:179621195-179621195
GRCh38: 2:178756468-178756468
46 TTN NM_001267550.2(TTN):c.11311+4835T>A SNV Uncertain significance 1033053 GRCh37: 2:179613016-179613016
GRCh38: 2:178748289-178748289
47 TTN NM_001267550.2(TTN):c.9167G>A (p.Arg3056His) SNV Uncertain significance 809095 rs547301978 GRCh37: 2:179632879-179632879
GRCh38: 2:178768152-178768152
48 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
49 TTN NM_001267550.2(TTN):c.6816A>T (p.Glu2272Asp) SNV Uncertain significance 535405 rs1554002953 GRCh37: 2:179639175-179639175
GRCh38: 2:178774448-178774448
50 TTN NM_001267550.2(TTN):c.43422A>T (p.Glu14474Asp) SNV Uncertain significance 535326 rs998106657 GRCh37: 2:179497311-179497311
GRCh38: 2:178632584-178632584

UniProtKB/Swiss-Prot genetic disease variations for Myopathy, Myofibrillar, 9, with Early Respiratory Failure:

72
# Symbol AA change Variation ID SNP ID
1 TTN p.Arg279Trp VAR_026634 rs138060032

Expression for Myopathy, Myofibrillar, 9, with Early Respiratory Failure

Search GEO for disease gene expression data for Myopathy, Myofibrillar, 9, with Early Respiratory Failure.

Pathways for Myopathy, Myofibrillar, 9, with Early Respiratory Failure

Pathways related to Myopathy, Myofibrillar, 9, with Early Respiratory Failure according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.66 TTN TCAP NEB

GO Terms for Myopathy, Myofibrillar, 9, with Early Respiratory Failure

Cellular components related to Myopathy, Myofibrillar, 9, with Early Respiratory Failure according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.19 TTN TRIM63 TRIM55 TRIM54 TCAP SRF
2 sarcolemma GO:0042383 9.63 OBSCN MYOT FLNC
3 sarcomere GO:0030017 9.62 TCAP OBSCN NEB MYH7
4 stress fiber GO:0001725 9.61 MYH7 LDB3 BAG3
5 I band GO:0031674 9.58 TTN TCAP CRYAB
6 myofibril GO:0030016 9.55 OBSCN NRAP NEB MYH7 CAPN3
7 contractile fiber GO:0043292 9.54 TRIM63 NEB CRYAB
8 Z disc GO:0030018 9.5 TTN TRIM63 TRIM54 TCAP OBSCN NRAP
9 M band GO:0031430 9.35 TTN TRIM63 OBSCN NBR1 CRYAB

Biological processes related to Myopathy, Myofibrillar, 9, with Early Respiratory Failure according to GeneCards Suite gene sharing:

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 regulation of catalytic activity GO:0050790 9.91 TTN OBSCN CAPN3 BAG3
2 muscle organ development GO:0007517 9.77 NEB CRYAB CAPN3
3 regulation of cellular response to heat GO:1900034 9.71 DNAJB6 CRYAB BAG3
4 cardiac muscle contraction GO:0060048 9.65 TTN TCAP MYH7
5 striated muscle contraction GO:0006941 9.6 TTN MYH7
6 cardiac muscle hypertrophy in response to stress GO:0014898 9.58 TCAP MYH7
7 adult heart development GO:0007512 9.58 TCAP MYH7
8 cardiac muscle tissue morphogenesis GO:0055008 9.57 TTN TCAP
9 cardiac muscle hypertrophy GO:0003300 9.56 TTN TCAP
10 muscle structure development GO:0061061 9.55 LDB3 CAPN3
11 muscle cell cellular homeostasis GO:0046716 9.54 SRF CAPN3 BAG3
12 cardiac muscle fiber development GO:0048739 9.52 TTN TCAP
13 detection of muscle stretch GO:0035995 9.51 TTN TCAP
14 muscle fiber development GO:0048747 9.5 NRAP NEB FLNC
15 skeletal muscle thin filament assembly GO:0030240 9.49 TTN TCAP
16 cardiac muscle thin filament assembly GO:0071691 9.46 NRAP NEB
17 muscle filament sliding GO:0030049 9.46 TTN TCAP NEB MYH7
18 sarcomerogenesis GO:0048769 9.43 TTN TCAP
19 cardiac myofibril assembly GO:0055003 9.43 TTN TCAP SRF
20 skeletal muscle myosin thick filament assembly GO:0030241 9.4 TTN TCAP
21 muscle contraction GO:0006936 9.35 TTN TRIM63 MYOT MYH7 CRYAB
22 sarcomere organization GO:0045214 9.1 TTN TCAP SRF OBSCN LDB3 CAPN3

Molecular functions related to Myopathy, Myofibrillar, 9, with Early Respiratory Failure according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 actin binding GO:0003779 9.73 NRAP NEB MYOT MYH7 LDB3 FLNC
2 actin filament binding GO:0051015 9.62 TTN NRAP NEB MYH7
3 cytoskeletal protein binding GO:0008092 9.54 LDB3 FLNC CRYAB
4 ankyrin binding GO:0030506 9.4 OBSCN FLNC
5 muscle alpha-actinin binding GO:0051371 9.33 TTN NRAP LDB3
6 titin binding GO:0031432 9.26 TRIM63 TCAP OBSCN CAPN3
7 structural constituent of muscle GO:0008307 9.1 TTN TCAP OBSCN NEB MYOT CAPN3

Sources for Myopathy, Myofibrillar, 9, with Early Respiratory Failure

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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