MFM9
MCID: MYP153
MIFTS: 52

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

Categories: Genetic diseases, Muscle diseases, Neuronal diseases, Rare 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 56 73 29 6
Hereditary Myopathy with Early Respiratory Failure 56 12 24 25 58 73
Hmerf 56 12 24 25 58 73
Edstrom Myopathy 56 12 25 58 73
Myopathy, Proximal, with Early Respiratory Muscle Involvement 56 25 73 13
Mfm-Titinopathy 12 24 58
Mfm9 56 12 73
Mprm 56 12 73
Myopathy, Distal, with Early Respiratory Failure, Autosomal Dominant 56 73
Hereditary Inclusion Body Myopathy with Early Respiratory Failure 12 58
Myofibrillar Myopathy with Early Respiratory Failure 24 58
Myofibrillar Myopathy-Titinopathy 12 58
Myofibrillar Myopathy 9 12 15
Hibm-Erf 12 58
Myopathy, Proximal, with Early Respiratory Muscle Involvement; Mprm 56
Autosomal Dominant Distal Myopathy with Early Respiratory Failure 12
Proximal Myopathy with Early Respiratory Muscle Involvement 12
Hereditary Myopathy with Early Respiratory Failure; Hmerf 56
Myofibrillar Myopathy 9 with Early Respiratory Failure 12
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:

56
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 variable expressivity adult onset slow progression


GeneReviews:

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

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0111188
OMIM 56 603689
OMIM Phenotypic Series 56 PS601419
MeSH 43 D009135
ICD10 via Orphanet 33 G71.0
UMLS via Orphanet 72 C1863599
Orphanet 58 ORPHA178464
MedGen 41 C1863599

Summaries for Myopathy, Myofibrillar, 9, 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). 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 reducing body myopathy and rigid spine muscular dystrophy 1. An important gene associated with Myopathy, Myofibrillar, 9, with Early Respiratory Failure is TTN (Titin), and among its related pathways/superpathways are Striated Muscle Contraction and Factors and pathways affecting insulin-like growth factor (IGF1)-Akt signaling. Affiliated tissues include skeletal muscle and testes, and related phenotypes are respiratory insufficiency due to muscle weakness 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 : 56 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)

UniProtKB/Swiss-Prot : 73 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 79)
# Related Disease Score Top Affiliating Genes
1 reducing body myopathy 30.7 TTN NEB
2 rigid spine muscular dystrophy 1 30.0 TTN MYOT CAPN3 BAG3
3 miyoshi muscular dystrophy 29.1 TTN TCAP NEB MYOT GNE CAPN3
4 reducing body myopathy 1a 28.4 TTN TCAP NEB MYOT LDB3 FLNC
5 myofibrillar myopathy 26.5 TTN TCAP NEB NBR1 MYOT LDB3
6 myopathy 26.5 TTN TRIM63 TRIM54 TCAP NEB MYOT
7 hereditary proximal myopathy with early respiratory failure 12.1
8 respiratory failure 10.6
9 left ventricular noncompaction 2 10.5 TTN-AS1 TTN
10 cardioneuromyopathy with hyaline masses and nemaline rods 10.3 TTN NEB
11 ocular motor apraxia 10.3
12 foot drop 10.3 TTN NEB
13 scapuloperoneal syndrome, neurogenic, kaeser type 10.3 NEB MYOT
14 muscular dystrophy, limb-girdle, autosomal recessive 8 10.3 TTN TCAP CAPN3
15 muscular dystrophy, limb-girdle, autosomal recessive 6 10.2 TTN TCAP CAPN3
16 autosomal recessive limb-girdle muscular dystrophy type 2l 10.2 MYOT CAPN3
17 autosomal recessive limb-girdle muscular dystrophy type 2h 10.2 TCAP MYOT CAPN3
18 autosomal recessive limb-girdle muscular dystrophy type 2c 10.2 TCAP MYOT CAPN3
19 muscular dystrophy-dystroglycanopathy , type c, 5 10.2 TTN TCAP CAPN3
20 autosomal recessive limb-girdle muscular dystrophy type 2f 10.2 TCAP MYOT CAPN3
21 emery-dreifuss muscular dystrophy 2, autosomal dominant 10.2 TTN MYOT CAPN3
22 muscular dystrophy, limb-girdle, type 1h 10.2 MYOT DNAJB6
23 autosomal recessive limb-girdle muscular dystrophy type 2b 10.2 TCAP MYOT CAPN3
24 congenital structural myopathy 10.2 TTN NEB MYOT
25 autosomal dominant distal myopathy 10.2
26 creatine phosphokinase, elevated serum 10.2 TCAP CAPN3
27 muscular dystrophy-dystroglycanopathy , type c, 9 10.1 MYOT DNAJB6
28 cardiac rupture 10.1 TRIM54 FLNC
29 congenital fiber-type disproportion 10.1 TTN NEB MYOT
30 muscular dystrophy-dystroglycanopathy , type c, 4 10.1 MYOT CAPN3
31 muscular dystrophy, limb-girdle, autosomal recessive 7 10.1 TTN TCAP MYOT CAPN3
32 centronuclear myopathy 10.1 TTN-AS1 TTN NEB
33 central core disease of muscle 10.1 NEB MYOT
34 autosomal recessive limb-girdle muscular dystrophy type 2g 10.1 TTN TCAP MYOT CAPN3
35 autosomal recessive limb-girdle muscular dystrophy type 2q 10.1 TCAP MYOT DNAJB6
36 third-degree atrioventricular block 10.1 TTN-AS1 TTN
37 autosomal recessive limb-girdle muscular dystrophy type 2a 10.1 TTN TCAP MYOT CAPN3
38 bethlem myopathy 1 10.1 NEB MYOT CAPN3
39 autosomal recessive limb-girdle muscular dystrophy type 2d 10.1 TTN TCAP MYOT CAPN3
40 muscular dystrophy, limb-girdle, autosomal dominant 3 10.1 MYOT DNAJB6
41 muscular dystrophy, limb-girdle, autosomal recessive 2 10.1 TTN TCAP MYOT CAPN3
42 atrioventricular block 10.0 TTN-AS1 TTN CRYAB
43 muscular atrophy 10.0
44 cytoplasmic body myopathy 10.0
45 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 9.9 TTN LDB3
46 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 9.9 TTN LDB3
47 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 9.9 TTN LDB3
48 muscular dystrophy, limb-girdle, autosomal dominant 2 9.9 TCAP MYOT DNAJB6 CAPN3
49 autosomal recessive limb-girdle muscular dystrophy type 2j 9.9 TTN TCAP OBSCN MYOT CAPN3
50 atrial standstill 1 9.9 TTN TCAP MYOT CRYAB

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 34)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 respiratory insufficiency due to muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0002747
2 elevated serum creatine kinase 58 31 frequent (33%) Frequent (79-30%) HP:0003236
3 skeletal muscle atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0003202
4 emg: myopathic abnormalities 58 31 frequent (33%) Frequent (79-30%) HP:0003458
5 rimmed vacuoles 58 31 frequent (33%) Frequent (79-30%) HP:0003805
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 occasional (7.5%) 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 gait disturbance 58 Frequent (79-30%)
23 dyspnea 58 Frequent (79-30%)
24 pelvic girdle muscle weakness 31 HP:0003749
25 respiratory failure 31 HP:0002878
26 myofibrillar myopathy 31 HP:0003715
27 restrictive deficit on pulmonary function testing 58 Frequent (79-30%)
28 distal muscle weakness 58 Occasional (29-5%)
29 quadriceps muscle weakness 31 HP:0003731
30 frequent falls 31 HP:0002359
31 diaphragmatic weakness 31 HP:0009113
32 difficulty walking 31 HP:0002355
33 shoulder girdle muscle weakness 31 HP:0003547
34 nocturnal hypoventilation 31 HP:0002877

Symptoms via clinical synopsis from OMIM:

56
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

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.85 BAG3 CAPN3 FLNC GNE LDB3 TCAP
2 homeostasis/metabolism MP:0005376 9.73 BAG3 CAPN3 CRYAB FLNC GNE LDB3
3 muscle MP:0005369 9.44 BAG3 CAPN3 CRYAB FLNC GNE LDB3

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, Testes

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

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

(show all 42)
# Title Authors PMID Year
1
Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure. 61 24 6 56
23486992 2014
2
Titin mutation segregates with hereditary myopathy with early respiratory failure. 56 6 24
22577215 2012
3
Subclinical semitendinosus and obturator externus involvement defines an autosomal dominant myopathy with early respiratory failure. 56 6 24
16084088 2005
4
A novel autosomal dominant distal myopathy with early respiratory failure: clinico-pathologic characteristics and exclusion of linkage to candidate genetic loci. 56 6 24
11310621 2001
5
The kinase domain of titin controls muscle gene expression and protein turnover. 56 6
15802564 2005
6
Autosomal dominant myopathy with proximal weakness and early respiratory muscle involvement maps to chromosome 2q. 6 56
10053013 1999
7
Myopathy with respiratory failure and typical myofibrillar lesions. 24 56
2376753 1990
8
Hereditary Myopathy with Early Respiratory Failure 61 6
24575448 2014
9
Expanding the importance of HMERF titinopathy: new mutations and clinical aspects. 24 61
30666435 2019
10
Hereditary myopathy with early respiratory failure (HMERF): Still rare, but common enough. 61 24
29361395 2018
11
Necklace cytoplasmic bodies in hereditary myopathy with early respiratory failure. 61 24
25253871 2015
12
Evidence-based guideline summary: diagnosis and treatment of limb-girdle and distal dystrophies: report of the guideline development subcommittee of the American Academy of Neurology and the practice issues review panel of the American Association of Neuromuscular & Electrodiagnostic Medicine. 6
25313375 2014
13
Hereditary myopathy with early respiratory failure: occurrence in various populations. 24 61
23606733 2014
14
Exome sequencing identifies a novel TTN mutation in a family with hereditary myopathy with early respiratory failure. 24 61
23446887 2013
15
Exome sequencing identifies titin mutations causing hereditary myopathy with early respiratory failure (HMERF) in families of diverse ethnic origins. 61 24
23514108 2013
16
BAG3-related myofibrillar myopathy in a Chinese family. 6
21361913 2012
17
Myofibrillar Myopathy – ARCHIVED CHAPTER, FOR HISTORICAL REFERENCE ONLY 6
20301672 2005
18
A second locus for autosomal dominant myopathy with proximal muscle weakness and early respiratory muscle involvement: a likely chromosomal locus on 2q21. 56
10407851 1999
19
Timing, rates and spectra of human germline mutation. 24
26656846 2016
20
Respiratory management of patients with neuromuscular disease: current perspectives. 24
30050373 2016
21
New disease allele and de novo mutation indicate mutational vulnerability of titin exon 343 in hereditary myopathy with early respiratory failure. 24
25500009 2015
22
Hereditary myopathy with early respiratory failure is associated with misfolding of the titin fibronectin III 119 subdomain. 24
24636144 2014
23
Titinopathy in a Canadian family sharing the British founder haplotype. 24
24384345 2014
24
Hereditary myopathy with early respiratory failure associated with a mutation in A-band titin. 24
22577218 2012
25
Myofibrillar myopathies. 24
21256014 2011
26
ALS with respiratory onset: clinical features and effects of non-invasive ventilation on the prognosis. 24
20001486 2010
27
Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population. 24
19767415 2009
28
Mutation in BAG3 causes severe dominant childhood muscular dystrophy. 24
19085932 2009
29
Scapuloperoneal syndrome type Kaeser and a wide phenotypic spectrum of adult-onset, dominant myopathies are associated with the desmin mutation R350P. 24
17439987 2007
30
Respiratory failure as a first presentation of myasthenia gravis. 24
15567987 2004
31
Cardiac and respiratory failure in limb-girdle muscular dystrophy 2I. 24
15505776 2004
32
Severe respiratory muscle weakness related to long-term colchicine therapy. 24
14744269 2004
33
Myofibrillar myopathy caused by novel dominant negative alpha B-crystallin mutations. 24
14681890 2003
34
Cytoplasmic body neuromyopathy presenting as respiratory failure and weight loss. 24
220387 1979
35
Atypical myopathy with myofibrillar aggregates. 24
165803 1975
36
[Selective muscular atrophy in a family with hereditary myopathy with early respiratory failure]. 61
32307395 2020
37
Loss of Sarcomeric Scaffolding as a Common Baseline Histopathologic Lesion in Titin-Related Myopathies. 61
30365001 2018
38
The Diagnostic Value of MRI Pattern Recognition in Distal Myopathies. 61
29997562 2018
39
Cardiac involvement in hereditary myopathy with early respiratory failure: A cohort study. 61
27511179 2016
40
Think worldwide: hereditary myopathy with early respiratory failure (HMERF) may not be rare. 61
23695499 2014
41
[Myofibrillar myopaathy]. 61
24291893 2013
42
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 1945) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TTN NM_001267550.2(TTN):c.82657G>T (p.Gly27553Ter)SNV Pathogenic 488810 rs869178171 2:179428202-179428202 2:178563475-178563475
2 TTN NM_001267550.2(TTN):c.107889del (p.Lys35963fs)deletion Pathogenic 38439 rs281864930 2:179391826-179391826 2:178527099-178527099
3 TTN NM_001267550.2(TTN):c.95134T>C (p.Cys31712Arg)SNV Pathogenic 132133 rs869320740 2:179410829-179410829 2:178546102-178546102
4 TTN NM_001267550.2(TTN):c.95185T>C (p.Trp31729Arg)SNV Pathogenic 132134 rs869320741 2:179410778-179410778 2:178546051-178546051
5 TTN NM_001267550.2(TTN):c.95186G>T (p.Trp31729Leu)SNV Pathogenic 132135 rs786205367 2:179410777-179410777 2:178546050-178546050
6 TTN NM_001267550.2(TTN):c.95195C>T (p.Pro31732Leu)SNV Pathogenic 132137 rs753334568 2:179410768-179410768 2:178546041-178546041
7 TTN NM_001267550.2(TTN):c.95358C>G (p.Asn31786Lys)SNV Pathogenic 132138 rs869320743 2:179410605-179410605 2:178545878-178545878
8 TTN NM_001267550.2(TTN):c.67495C>T (p.Arg22499Ter)SNV Pathogenic/Likely pathogenic 180573 rs574660186 2:179444429-179444429 2:178579702-178579702
9 TTN NM_001267550.2(TTN):c.75134_75137AGAA[1] (p.Lys25046fs)short repeat Pathogenic/Likely pathogenic 202467 rs794729340 2:179435718-179435721 2:178570991-178570994
10 TTN NM_001267550.2(TTN):c.100704C>A (p.Tyr33568Ter)SNV Likely pathogenic 489308 rs1553501227 2:179400770-179400770 2:178536043-178536043
11 TTN NM_001267550.2(TTN):c.89221dup (p.Ile29741fs)duplication Likely pathogenic 417932 rs1553543413 2:179418510-179418511 2:178553783-178553784
12 TTN NM_001267550.2(TTN):c.91615_91616dup (p.Gly30541fs)duplication Likely pathogenic 617581 rs1559187287 2:179414948-179414949 2:178550221-178550222
13 TTN NM_001267550.2(TTN):c.22480T>C (p.Ser7494Pro)SNV Likely pathogenic 617582 rs1560689563 2:179587034-179587034 2:178722307-178722307
14 TTN GRCh37/hg19 2q31.2(chr2:179403525-179655493)copy number loss Likely pathogenic 625774 2:179403525-179655493
15 TTN NM_001267550.2(TTN):c.*280A>GSNV Conflicting interpretations of pathogenicity 332670 rs549242855 2:179391459-179391459 2:178526732-178526732
16 TTN NM_001267550.2(TTN):c.*130G>CSNV Conflicting interpretations of pathogenicity 332673 rs144026962 2:179391609-179391609 2:178526882-178526882
17 TTN NM_001267550.2(TTN):c.*25C>TSNV Conflicting interpretations of pathogenicity 332676 rs370597649 2:179391714-179391714 2:178526987-178526987
18 TTN NM_001267550.2(TTN):c.105383C>T (p.Ala35128Val)SNV Conflicting interpretations of pathogenicity 332687 rs758458467 2:179395959-179395959 2:178531232-178531232
19 TTN NM_001267550.2(TTN):c.104277G>A (p.Lys34759=)SNV Conflicting interpretations of pathogenicity 332692 rs377391143 2:179397065-179397065 2:178532338-178532338
20 TTN NM_001267550.2(TTN):c.99966G>T (p.Trp33322Cys)SNV Conflicting interpretations of pathogenicity 332704 rs775769503 2:179401870-179401870 2:178537143-178537143
21 TTN NM_001267550.2(TTN):c.99567C>T (p.Leu33189=)SNV Conflicting interpretations of pathogenicity 332706 rs745708104 2:179402367-179402367 2:178537640-178537640
22 TTN NM_001267550.2(TTN):c.99154C>T (p.Arg33052Cys)SNV Conflicting interpretations of pathogenicity 332710 rs758109676 2:179403402-179403402 2:178538675-178538675
23 TTN NM_001267550.2(TTN):c.97717C>T (p.Arg32573Cys)SNV Conflicting interpretations of pathogenicity 332714 rs569593251 2:179406087-179406087 2:178541360-178541360
24 TTN NM_001267550.2(TTN):c.97524A>G (p.Ile32508Met)SNV Conflicting interpretations of pathogenicity 332716 rs755848026 2:179406280-179406280 2:178541553-178541553
25 TTN NM_001267550.2(TTN):c.95016T>C (p.Thr31672=)SNV Conflicting interpretations of pathogenicity 332724 rs367549998 2:179411042-179411042 2:178546315-178546315
26 TTN NM_001267550.2(TTN):c.92058C>T (p.Asn30686=)SNV Conflicting interpretations of pathogenicity 332729 rs545632095 2:179414391-179414391 2:178549664-178549664
27 TTN NM_001267550.2(TTN):c.77649C>T (p.Ile25883=)SNV Conflicting interpretations of pathogenicity 332774 rs747430905 2:179433210-179433210 2:178568483-178568483
28 TTN NM_001267550.2(TTN):c.74602A>G (p.Ile24868Val)SNV Conflicting interpretations of pathogenicity 332783 rs72646898 2:179436257-179436257 2:178571530-178571530
29 TTN NM_001267550.2(TTN):c.71883T>C (p.Val23961=)SNV Conflicting interpretations of pathogenicity 332788 rs368692510 2:179438976-179438976 2:178574249-178574249
30 TTN NM_001267550.2(TTN):c.71793A>G (p.Pro23931=)SNV Conflicting interpretations of pathogenicity 332790 rs780920316 2:179439066-179439066 2:178574339-178574339
31 TTN NM_001267550.2(TTN):c.71058G>A (p.Ala23686=)SNV Conflicting interpretations of pathogenicity 332791 rs375183437 2:179439801-179439801 2:178575074-178575074
32 TTN NM_001267550.2(TTN):c.65499A>G (p.Arg21833=)SNV Conflicting interpretations of pathogenicity 332804 rs369255906 2:179448410-179448410 2:178583683-178583683
33 TTN NM_001267550.2(TTN):c.62609A>C (p.Asn20870Thr)SNV Conflicting interpretations of pathogenicity 332815 rs376338324 2:179453843-179453843 2:178589116-178589116
34 TTN NM_001267550.2(TTN):c.80904C>T (p.Ile26968=)SNV Conflicting interpretations of pathogenicity 332764 rs539234338 2:179429955-179429955 2:178565228-178565228
35 TTN NM_001267550.2(TTN):c.79155G>A (p.Val26385=)SNV Conflicting interpretations of pathogenicity 332770 rs377618488 2:179431704-179431704 2:178566977-178566977
36 TTN NM_001267550.2(TTN):c.46884G>A (p.Lys15628=)SNV Conflicting interpretations of pathogenicity 332856 rs760251812 2:179483393-179483393 2:178618666-178618666
37 TTN NM_001267550.2(TTN):c.45979C>T (p.Arg15327Cys)SNV Conflicting interpretations of pathogenicity 332861 rs367774903 2:179485269-179485269 2:178620542-178620542
38 TTN NM_001267550.2(TTN):c.44599G>A (p.Gly14867Arg)SNV Conflicting interpretations of pathogenicity 332867 rs144848584 2:179489408-179489408 2:178624681-178624681
39 TTN NM_001267550.2(TTN):c.32954G>C (p.Arg10985Pro)SNV Conflicting interpretations of pathogenicity 332887 rs181395238 2:179547564-179547564 2:178682837-178682837
40 TTN NM_001267550.2(TTN):c.30683-3deldeletion Conflicting interpretations of pathogenicity 332897 rs368277751 2:179563644-179563644 2:178698917-178698917
41 TTN NM_001267550.2(TTN):c.22473C>T (p.Cys7491=)SNV Conflicting interpretations of pathogenicity 332914 rs566454891 2:179587041-179587041 2:178722314-178722314
42 TTN NM_001267550.2(TTN):c.15408G>A (p.Ser5136=)SNV Conflicting interpretations of pathogenicity 332933 rs761269554 2:179599143-179599143 2:178734416-178734416
43 TTN NM_001267550.2(TTN):c.10191C>A (p.Asp3397Glu)SNV Conflicting interpretations of pathogenicity 332937 rs773862320 2:179623823-179623823 2:178759096-178759096
44 TTN NM_001267550.2(TTN):c.39044-15C>TSNV Conflicting interpretations of pathogenicity 332879 rs749495580 2:179517283-179517283 2:178652556-178652556
45 TTN NM_001267550.2(TTN):c.9348C>G (p.Ile3116Met)SNV Conflicting interpretations of pathogenicity 332942 rs760230943 2:179632609-179632609 2:178767882-178767882
46 TTN NM_001267550.2(TTN):c.5073A>T (p.Glu1691Asp)SNV Conflicting interpretations of pathogenicity 332953 rs770902874 2:179641518-179641518 2:178776791-178776791
47 TTN NM_001267550.2(TTN):c.6958C>T (p.Arg2320Cys)SNV Conflicting interpretations of pathogenicity 332949 rs776478343 2:179639033-179639033 2:178774306-178774306
48 TTN NM_001267550.2(TTN):c.3132C>T (p.Ala1044=)SNV Conflicting interpretations of pathogenicity 332964 rs777315600 2:179647298-179647298 2:178782571-178782571
49 TTN NM_133379.5(TTN):c.1398+9G>ASNV Conflicting interpretations of pathogenicity 332969 rs368350210 2:179659117-179659117 2:178794390-178794390
50 TTN NM_001267550.2(TTN):c.*1015A>GSNV Conflicting interpretations of pathogenicity 332662 rs72629798 2:179390724-179390724 2:178525997-178525997

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

73
# 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
2 10.45 TRIM63 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 cytosol GO:0005829 10.2 TTN TCAP OBSCN NEB NBR1 GNE
2 cytoplasm GO:0005737 10.06 TTN TRIM63 TRIM55 TRIM54 TCAP OBSCN
3 sarcolemma GO:0042383 9.61 OBSCN MYOT FLNC
4 myofibril GO:0030016 9.58 OBSCN NEB CAPN3
5 sarcomere GO:0030017 9.56 TTN TCAP OBSCN NEB
6 I band GO:0031674 9.54 TTN TCAP CRYAB
7 contractile fiber GO:0043292 9.5 TRIM63 NEB CRYAB
8 Z disc GO:0030018 9.44 TTN TRIM63 TRIM54 TCAP OBSCN NEB
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 17)
# Name GO ID Score Top Affiliating Genes
1 muscle organ development GO:0007517 9.7 NEB CRYAB CAPN3
2 regulation of catalytic activity GO:0050790 9.65 TTN CAPN3 BAG3
3 regulation of cellular response to heat GO:1900034 9.61 DNAJB6 CRYAB BAG3
4 muscle cell cellular homeostasis GO:0046716 9.57 CAPN3 BAG3
5 muscle fiber development GO:0048747 9.56 NEB FLNC
6 cardiac muscle tissue morphogenesis GO:0055008 9.55 TTN TCAP
7 cardiac myofibril assembly GO:0055003 9.54 TTN TCAP
8 cardiac muscle fiber development GO:0048739 9.51 TTN TCAP
9 cardiac muscle hypertrophy GO:0003300 9.49 TTN TCAP
10 muscle structure development GO:0061061 9.46 LDB3 CAPN3
11 muscle filament sliding GO:0030049 9.43 TTN TCAP NEB
12 skeletal muscle thin filament assembly GO:0030240 9.4 TTN TCAP
13 skeletal muscle myosin thick filament assembly GO:0030241 9.37 TTN TCAP
14 detection of muscle stretch GO:0035995 9.32 TTN TCAP
15 muscle contraction GO:0006936 9.26 TTN TRIM63 MYOT CRYAB
16 sarcomerogenesis GO:0048769 9.16 TTN TCAP
17 sarcomere organization GO:0045214 9.02 TTN TCAP 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 protein binding GO:0005515 10.22 TTN TRIM63 TRIM55 TRIM54 TCAP OBSCN
2 metal ion binding GO:0046872 9.96 TTN TRIM63 TRIM55 TRIM54 OBSCN NBR1
3 actin binding GO:0003779 9.73 NEB MYOT LDB3 FLNC
4 ankyrin binding GO:0030506 9.4 OBSCN FLNC
5 muscle alpha-actinin binding GO:0051371 9.37 TTN LDB3
6 cytoskeletal protein binding GO:0008092 9.33 LDB3 FLNC CRYAB
7 titin binding GO:0031432 9.26 TRIM63 TCAP OBSCN CAPN3
8 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
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
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41 MedGen
43 MeSH
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48 NCI
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50 NDF-RT
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56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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