SALMY
MCID: SLH001
MIFTS: 38

Salih Myopathy (SALMY)

Categories: Bone diseases, Cardiovascular diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Salih Myopathy

MalaCards integrated aliases for Salih Myopathy:

Name: Salih Myopathy 57 25 43 58 72
Myopathy, Early-Onset, with Fatal Cardiomyopathy 57 72 29 13 6 39 70
Early-Onset Myopathy with Fatal Cardiomyopathy 25 43 58 72
Eomfc 57 43 58 72
Salmy 57 72
Titinopathy & Early-Onset Myopathy with Fatal Cardiomyopathy 43
Myopathy, Early-Onset, with Fatal Cardiomyopathy; Eomfc 57
Salih Congenital Muscular Dystrophy 43
Salih Cmd 43

Characteristics:

Orphanet epidemiological data:

58
early-onset myopathy with fatal cardiomyopathy
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
muscle involvement shows onset at birth or in infancy
cardiac involvement occurs between 5 and 12 years
sudden death due to cardiomyopathy


HPO:

31
salih myopathy:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset congenital onset


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

OMIM® 57 611705
ICD10 via Orphanet 33 G71.8
UMLS via Orphanet 71 C2673677
Orphanet 58 ORPHA289377
MedGen 41 C2673677
UMLS 70 C2673677

Summaries for Salih Myopathy

MedlinePlus Genetics : 43 Early-onset myopathy with fatal cardiomyopathy (EOMFC) is an inherited muscle disease that affects the skeletal muscles, which are used for movement, and the heart (cardiac) muscle. This condition is characterized by skeletal muscle weakness that becomes apparent in early infancy. Affected individuals have delayed development of motor skills, such as sitting, standing, and walking. Beginning later in childhood, people with EOMFC may also develop joint deformities called contractures that restrict the movement of the neck and back. Scoliosis, which is an abnormal side-to-side curvature of the spine, also develops in late childhood.A form of heart disease called dilated cardiomyopathy is another feature of EOMFC. Dilated cardiomyopathy enlarges and weakens the cardiac muscle, preventing the heart from pumping blood efficiently. Signs and symptoms of this condition can include an irregular heartbeat (arrhythmia), shortness of breath, extreme tiredness (fatigue), and swelling of the legs and feet. The heart abnormalities associated with EOMFC usually become apparent in childhood, after the skeletal muscle abnormalities. The heart disease worsens quickly, and it often causes heart failure and sudden death in adolescence or early adulthood.

MalaCards based summary : Salih Myopathy, also known as myopathy, early-onset, with fatal cardiomyopathy, is related to muscular dystrophy and muscular dystrophy, congenital, lmna-related, and has symptoms including facial paresis An important gene associated with Salih Myopathy is TTN (Titin). Affiliated tissues include heart and skeletal muscle, and related phenotypes are elevated serum creatine kinase and scoliosis

UniProtKB/Swiss-Prot : 72 Salih myopathy: An autosomal recessive, early-onset muscular disorder characterized by dilated cardiomyopathy, delayed motor development with generalized muscle weakness predominantly affecting proximal and distal lower limbs. Skeletal muscle biopsies show minicore-like lesions with mitochondrial depletion and sarcomere disorganization, centralized nuclei, and type 1 fiber predominance. Dystrophic changes become apparent in the second decade. Cardiac muscle biopsies show disruption of myocardial architecture, nuclear hypertrophy, and endomysial fibrosis. Sudden death may occurr due to cardiomyopathy.

More information from OMIM: 611705
GeneReviews: NBK83297

Related Diseases for Salih Myopathy

Diseases related to Salih Myopathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 43)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy 30.0 TTN-AS1 TTN
2 muscular dystrophy, congenital, lmna-related 29.8 TTN-AS1 TTN
3 muscular dystrophy, limb-girdle, autosomal recessive 10 29.7 TTN-AS1 TTN
4 atrial standstill 1 29.6 TTN-AS1 TTN
5 cardiomyopathy, dilated, 1g 29.6 TTN-AS1 TTN
6 scoliosis 29.5 TTN-AS1 TTN
7 myopathy 10.2
8 familial isolated dilated cardiomyopathy 10.1
9 autosomal recessive limb-girdle muscular dystrophy type 2c 10.1
10 hypotonia 10.1
11 dilated cardiomyopathy 10.0
12 left ventricular noncompaction 2 9.9 TTN-AS1 TTN
13 left ventricular noncompaction 9.9 TTN-AS1 TTN
14 autosomal dominant distal myopathy 9.9 TTN-AS1 TTN
15 multiminicore disease 9.9 TTN-AS1 TTN
16 third-degree atrioventricular block 9.9 TTN-AS1 TTN
17 atrioventricular block 9.9 TTN-AS1 TTN
18 cardiomyopathy, familial hypertrophic, 9 9.9 TTN-AS1 TTN
19 arrhythmogenic right ventricular dysplasia, familial, 1 9.9 TTN-AS1 TTN
20 epidermolysis bullosa simplex with muscular dystrophy 9.8 TTN-AS1 TTN
21 myopathy, myofibrillar, 9, with early respiratory failure 9.8 TTN-AS1 TTN
22 respiratory failure 9.8 TTN-AS1 TTN
23 lmna-related dilated cardiomyopathy 9.8 TTN-AS1 TTN
24 tibial muscular dystrophy 9.8 TTN-AS1 TTN
25 hereditary proximal myopathy with early respiratory failure 9.8 TTN-AS1 TTN
26 tibial muscular dystrophy, tardive 9.8 TTN-AS1 TTN
27 cardiomyopathy, dilated, 1h 9.8 TTN-AS1 TTN
28 cardiomyopathy, dilated, 1a 9.8 TTN-AS1 TTN
29 batten-turner congenital myopathy 9.8 TTN-AS1 TTN
30 wolff-parkinson-white syndrome 9.8 TTN-AS1 TTN
31 cardiomyopathy, dilated, 1b 9.8 TTN-AS1 TTN
32 orthostatic intolerance 9.8 TTN-AS1 TTN
33 centronuclear myopathy 9.8 TTN-AS1 TTN
34 autosomal recessive limb-girdle muscular dystrophy 9.8 TTN-AS1 TTN
35 limb-girdle muscular dystrophy 9.8 TTN-AS1 TTN
36 cardiomyopathy, dilated, 1e 9.8 TTN-AS1 TTN
37 myofibrillar myopathy 9.8 TTN-AS1 TTN
38 restrictive cardiomyopathy 9.8 TTN-AS1 TTN
39 atrial fibrillation 9.8 TTN-AS1 TTN
40 brugada syndrome 9.7 TTN-AS1 TTN
41 neuromuscular disease 9.7 TTN-AS1 TTN
42 long qt syndrome 9.7 TTN-AS1 TTN
43 hypertrophic cardiomyopathy 9.5 TTN-AS1 TTN

Graphical network of the top 20 diseases related to Salih Myopathy:



Diseases related to Salih Myopathy

Symptoms & Phenotypes for Salih Myopathy

Human phenotypes related to Salih Myopathy:

31 (show all 14)
# Description HPO Frequency HPO Source Accession
1 elevated serum creatine kinase 31 occasional (7.5%) HP:0003236
2 scoliosis 31 HP:0002650
3 ptosis 31 HP:0000508
4 facial palsy 31 HP:0010628
5 flexion contracture 31 HP:0001371
6 myopathy 31 HP:0003198
7 dilated cardiomyopathy 31 HP:0001644
8 motor delay 31 HP:0001270
9 arrhythmia 31 HP:0011675
10 generalized muscle weakness 31 HP:0003324
11 calf muscle hypertrophy 31 HP:0008981
12 sudden death 31 HP:0001699
13 centrally nucleated skeletal muscle fibers 31 HP:0003687
14 mitochondrial depletion 31 HP:0030059

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skeletal Spine:
scoliosis

Cardiovascular Heart:
dilated cardiomyopathy
arrhythmia
cardiac septal defects

Head And Neck Face:
facial muscle weakness

Laboratory Abnormalities:
serum creatine kinase may be increased

Head And Neck Eyes:
ptosis

Muscle Soft Tissue:
delayed motor development
calf hypertrophy
muscle biopsy shows centralized nuclei
type 1 fiber predominance
muscle weakness, generalized, proximal and distal
more
Skeletal:
joint contractures

Clinical features from OMIM®:

611705 (Updated 20-May-2021)

UMLS symptoms related to Salih Myopathy:


facial paresis

Drugs & Therapeutics for Salih Myopathy

Search Clinical Trials , NIH Clinical Center for Salih Myopathy

Genetic Tests for Salih Myopathy

Genetic tests related to Salih Myopathy:

# Genetic test Affiliating Genes
1 Myopathy, Early-Onset, with Fatal Cardiomyopathy 29 TTN

Anatomical Context for Salih Myopathy

MalaCards organs/tissues related to Salih Myopathy:

40
Heart, Skeletal Muscle

Publications for Salih Myopathy

Articles related to Salih Myopathy:

(show all 18)
# Title Authors PMID Year
1
C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy. 57 6 25
17444505 2007
2
Recessive TTN truncating mutations define novel forms of core myopathy with heart disease. 6 57
24105469 2014
3
Truncations of titin causing dilated cardiomyopathy. 6
22335739 2012
4
Interactions with titin and myomesin target obscurin and obscurin-like 1 to the M-band: implications for hereditary myopathies. 61 25
18477606 2008
5
Interpreting Genetic Variants in Titin in Patients With Muscle Disorders. 25
29435569 2018
6
The complexity of titin splicing pattern in human adult skeletal muscles. 25
29598826 2018
7
219th ENMC International Workshop Titinopathies International database of titin mutations and phenotypes, Heemskerk, The Netherlands, 29 April-1 May 2016. 25
28214268 2017
8
Increasing Role of Titin Mutations in Neuromuscular Disorders. 25
27854229 2016
9
Genetic basis of limb-girdle muscular dystrophies: the 2014 update. 25
24843229 2014
10
Consensus statement on standard of care for congenital muscular dystrophies. 25
21078917 2010
11
Structural insight into M-band assembly and mechanics from the titin-obscurin-like-1 complex. 25
20133654 2010
12
Titin diversity--alternative splicing gone wild. 25
20339475 2010
13
The complete gene sequence of titin, expression of an unusual approximately 700-kDa titin isoform, and its interaction with obscurin identify a novel Z-line to I-band linking system. 25
11717165 2001
14
Distinguishing cardiac features of a novel form of congenital muscular dystrophy (Salih cmd). 25
11455396 2001
15
A novel form of familial congenital muscular dystrophy in two adolescents. 25
10029346 1998
16
Postnatal cardiomyopathy in a newborn with Salih myopathy. 61
33485616 2021
17
Titin in muscular dystrophy and cardiomyopathy: Urinary titin as a novel marker. 61
30959043 2019
18
Salih Myopathy 61
22238790 2012

Variations for Salih Myopathy

ClinVar genetic disease variations for Salih Myopathy:

6 (show top 50) (show all 1995)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TTN-AS1 , TTN NM_001267550.2(TTN):c.92812dup (p.Arg30938fs) Duplication Pathogenic 619011 rs1559173391 GRCh37: 2:179413540-179413541
GRCh38: 2:178548813-178548814
2 TTN NM_001267550.2(TTN):c.29963-1G>C SNV Pathogenic 619187 rs1560513651 GRCh37: 2:179569135-179569135
GRCh38: 2:178704408-178704408
3 TTN NM_001267550.2(TTN):c.34922del (p.Pro11641fs) Deletion Pathogenic 522930 rs1553809971 GRCh37: 2:179537142-179537142
GRCh38: 2:178672415-178672415
4 TTN-AS1 , TTN TTN:c.106668delA (p.Lys35556Argfs) Deletion Pathogenic 12660 rs587776772 GRCh37: 2:179393810-179393810
GRCh38: 2:178529083-178529083
5 TTN-AS1 , TTN NM_001267550.2(TTN):c.105528_105535del (p.Gln35176fs) Deletion Pathogenic 12661 rs199469665 GRCh37: 2:179395807-179395814
GRCh38: 2:178531080-178531087
6 TTN-AS1 , TTN NM_001267550.2(TTN):c.91920G>A (p.Trp30640Ter) SNV Pathogenic 1030165 GRCh37: 2:179414529-179414529
GRCh38: 2:178549802-178549802
7 TTN NM_001267550.2(TTN):c.9163+1G>C SNV Pathogenic 405059 rs1060500549 GRCh37: 2:179633399-179633399
GRCh38: 2:178768672-178768672
8 TTN-AS1 , TTN NM_001267550.2(TTN):c.102214T>C (p.Trp34072Arg) SNV Pathogenic 405075 rs375159973 GRCh37: 2:179399128-179399128
GRCh38: 2:178534401-178534401
9 TTN-AS1 , TTN NM_001267550.2(TTN):c.82657G>T (p.Gly27553Ter) SNV Pathogenic 488810 rs869178171 GRCh37: 2:179428202-179428202
GRCh38: 2:178563475-178563475
10 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
11 TTN NM_001267550.2(TTN):c.15922C>T (p.Arg5308Ter) SNV Pathogenic 284964 rs886042995 GRCh37: 2:179598098-179598098
GRCh38: 2:178733371-178733371
12 TTN-AS1 , TTN NM_001267550.2(TTN):c.106541del (p.Asp35514fs) Deletion Pathogenic 1064523 GRCh37: 2:179393937-179393937
GRCh38: 2:178529210-178529210
13 TTN NM_133378.4(TTN):c.10361-1G>A SNV Pathogenic 223347 rs869312099 GRCh37: 2:179603088-179603088
GRCh38: 2:178738361-178738361
14 TTN-AS1 , TTN NM_001267550.2(TTN):c.67495C>T (p.Arg22499Ter) SNV Pathogenic 180573 rs574660186 GRCh37: 2:179444429-179444429
GRCh38: 2:178579702-178579702
15 TTN-AS1 , TTN NM_001267550.2(TTN):c.56648-1G>A SNV Likely pathogenic 666351 rs769912484 GRCh37: 2:179463790-179463790
GRCh38: 2:178599063-178599063
16 TTN-AS1 , TTN NM_001267550.2(TTN):c.89221dup (p.Ile29741fs) Duplication Likely pathogenic 417932 rs1553543413 GRCh37: 2:179418510-179418511
GRCh38: 2:178553783-178553784
17 TTN-AS1 , TTN NM_001267550.2(TTN):c.56347+1G>A SNV Likely pathogenic 666352 rs1576251664 GRCh37: 2:179464280-179464280
GRCh38: 2:178599553-178599553
18 TTN NM_001267550.2(TTN):c.3487G>A (p.Gly1163Arg) SNV Likely pathogenic 522931 rs1554015228 GRCh37: 2:179645884-179645884
GRCh38: 2:178781157-178781157
19 TTN-AS1 , TTN NM_001267550.2(TTN):c.96377G>A (p.Trp32126Ter) SNV Likely pathogenic 986349 GRCh37: 2:179408323-179408323
GRCh38: 2:178543596-178543596
20 TTN NM_001267550.2(TTN):c.38767A>T (p.Lys12923Ter) SNV Likely pathogenic 986355 GRCh37: 2:179517989-179517989
GRCh38: 2:178653262-178653262
21 TTN NM_001267550.2(TTN):c.28462+1G>T SNV Likely pathogenic 992989 GRCh37: 2:179575361-179575361
GRCh38: 2:178710634-178710634
22 TTN-AS1 , TTN NM_001267550.2(TTN):c.105753dup (p.Arg35252fs) Duplication Likely pathogenic 242529 rs863224937 GRCh37: 2:179395588-179395589
GRCh38: 2:178530861-178530862
23 TTN-AS1 , TTN NM_001267550.2(TTN):c.87280G>A (p.Glu29094Lys) SNV Uncertain significance 202939 rs199501185 GRCh37: 2:179422801-179422801
GRCh38: 2:178558074-178558074
24 TTN NM_001267550.2(TTN):c.34140A>G (p.Glu11380=) SNV Uncertain significance 332883 rs147418835 GRCh37: 2:179542499-179542499
GRCh38: 2:178677772-178677772
25 TTN-AS1 , TTN NM_001267550.2(TTN):c.94863C>T (p.His31621=) SNV Uncertain significance 165715 rs373871146 GRCh37: 2:179411195-179411195
GRCh38: 2:178546468-178546468
26 TTN NM_001267550.2(TTN):c.44519T>A (p.Phe14840Tyr) SNV Uncertain significance 332868 rs886055276 GRCh37: 2:179490029-179490029
GRCh38: 2:178625302-178625302
27 TTN NM_001267550.2(TTN):c.45212T>C (p.Ile15071Thr) SNV Uncertain significance 202641 rs184078045 GRCh37: 2:179486339-179486339
GRCh38: 2:178621612-178621612
28 TTN-AS1 , TTN NM_001267550.2(TTN):c.82810G>A (p.Gly27604Ser) SNV Uncertain significance 178184 rs199929362 GRCh37: 2:179428049-179428049
GRCh38: 2:178563322-178563322
29 TTN-AS1 , TTN NM_001267550.2(TTN):c.99154C>T (p.Arg33052Cys) SNV Uncertain significance 332710 rs758109676 GRCh37: 2:179403402-179403402
GRCh38: 2:178538675-178538675
30 TTN-AS1 , TTN NM_001267550.2(TTN):c.106820C>T (p.Ala35607Val) SNV Uncertain significance 179036 rs377337528 GRCh37: 2:179393658-179393658
GRCh38: 2:178528931-178528931
31 TTN-AS1 , TTN NM_001267550.2(TTN):c.*6C>A SNV Uncertain significance 332677 rs188728343 GRCh37: 2:179391733-179391733
GRCh38: 2:178527006-178527006
32 TTN-AS1 , TTN NM_001267550.2(TTN):c.92058C>T (p.Asn30686=) SNV Uncertain significance 332729 rs545632095 GRCh37: 2:179414391-179414391
GRCh38: 2:178549664-178549664
33 TTN-AS1 , TTN NM_001267550.2(TTN):c.56264G>A (p.Arg18755His) SNV Uncertain significance 332831 rs772767570 GRCh37: 2:179464364-179464364
GRCh38: 2:178599637-178599637
34 TTN-AS1 , TTN NM_001267550.2(TTN):c.80882C>T (p.Ala26961Val) SNV Uncertain significance 282019 rs749194310 GRCh37: 2:179429977-179429977
GRCh38: 2:178565250-178565250
35 TTN-AS1 , TTN NM_001267550.2(TTN):c.54037G>T (p.Ala18013Ser) SNV Uncertain significance 332834 rs531242797 GRCh37: 2:179469867-179469867
GRCh38: 2:178605140-178605140
36 TTN NM_001267550.2(TTN):c.10690G>C (p.Asp3564His) SNV Uncertain significance 1027851 GRCh37: 2:179621513-179621513
GRCh38: 2:178756786-178756786
37 TTN NM_001267550.2(TTN):c.35678_35685delinsA (p.Thr11893fs) Indel Uncertain significance 1027852 GRCh37: 2:179532197-179532204
GRCh38: 2:178667470-178667477
38 TTN NM_001267550.2(TTN):c.40082T>A (p.Ile13361Asn) SNV Uncertain significance 993586 GRCh37: 2:179512167-179512167
GRCh38: 2:178647440-178647440
39 TTN-AS1 , TTN NM_001267550.2(TTN):c.55345T>C (p.Cys18449Arg) SNV Uncertain significance 1027853 GRCh37: 2:179466472-179466472
GRCh38: 2:178601745-178601745
40 TTN NM_001267550.2(TTN):c.5889A>C (p.Lys1963Asn) SNV Uncertain significance 1028580 GRCh37: 2:179640702-179640702
GRCh38: 2:178775975-178775975
41 TTN-AS1 , TTN NM_001267550.2(TTN):c.77618C>T (p.Ala25873Val) SNV Uncertain significance 1029094 GRCh37: 2:179433241-179433241
GRCh38: 2:178568514-178568514
42 TTN-AS1 , TTN NM_001267550.2(TTN):c.85328T>A (p.Val28443Asp) SNV Uncertain significance 1029097 GRCh37: 2:179425531-179425531
GRCh38: 2:178560804-178560804
43 TTN-AS1 , TTN NM_001267550.2(TTN):c.86974T>G (p.Cys28992Gly) SNV Uncertain significance 1029100 GRCh37: 2:179423212-179423212
GRCh38: 2:178558485-178558485
44 TTN-AS1 , TTN NM_001267550.2(TTN):c.99922G>A (p.Ala33308Thr) SNV Uncertain significance 281829 rs201226974 GRCh37: 2:179401914-179401914
GRCh38: 2:178537187-178537187
45 TTN NM_001267550.2(TTN):c.33325G>A (p.Glu11109Lys) SNV Uncertain significance 1031087 GRCh37: 2:179545821-179545821
GRCh38: 2:178681094-178681094
46 TTN-AS1 , TTN NM_001267550.2(TTN):c.57970C>T (p.Arg19324Trp) SNV Uncertain significance 587467 rs1203435642 GRCh37: 2:179459251-179459251
GRCh38: 2:178594524-178594524
47 TTN-AS1 , TTN NM_001267550.2(TTN):c.68437G>A (p.Glu22813Lys) SNV Uncertain significance 178196 rs200797552 GRCh37: 2:179442805-179442805
GRCh38: 2:178578078-178578078
48 TTN NM_001267550.2(TTN):c.45054G>A (p.Ala15018=) SNV Uncertain significance 332863 rs781392140 GRCh37: 2:179486595-179486595
GRCh38: 2:178621868-178621868
49 TTN-AS1 , TTN NM_001267550.2(TTN):c.56286T>C (p.Tyr18762=) SNV Uncertain significance 332830 rs886055262 GRCh37: 2:179464342-179464342
GRCh38: 2:178599615-178599615
50 TTN NM_001267550.2(TTN):c.26762-39TTTGT[9] Microsatellite Uncertain significance 332907 rs71393436 GRCh37: 2:179578108-179578109
GRCh38: 2:178713381-178713382

Expression for Salih Myopathy

Search GEO for disease gene expression data for Salih Myopathy.

Pathways for Salih Myopathy

GO Terms for Salih Myopathy

Sources for Salih Myopathy

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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