SALMY
MCID: SLH001
MIFTS: 26

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 58 25 26 60 76
Myopathy, Early-Onset, with Fatal Cardiomyopathy 58 76 30 13 6 41 74
Early-Onset Myopathy with Fatal Cardiomyopathy 25 26 60 76
Eomfc 58 26 60 76
Salmy 58 76
Titinopathy & Early-Onset Myopathy with Fatal Cardiomyopathy 26
Myopathy, Early-Onset, with Fatal Cardiomyopathy; Eomfc 58
Salih Congenital Muscular Dystrophy 26
Salih Cmd 26

Characteristics:

Orphanet epidemiological data:

60
early-onset myopathy with fatal cardiomyopathy
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM:

58
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:

33
salih myopathy:
Clinical modifier sudden death
Onset and clinical course congenital onset infantile onset
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


Summaries for Salih Myopathy

Genetics Home Reference : 26 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.

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

UniProtKB/Swiss-Prot : 76 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.

Description 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:

# Related Disease Score Top Affiliating Genes
1 muscular dystrophy, congenital, lmna-related 10.3
2 muscular dystrophy 10.3
3 muscle disorders 10.1
4 myopathy 10.1

Symptoms & Phenotypes for Salih Myopathy

Human phenotypes related to Salih Myopathy:

33 (show all 13)
# Description HPO Frequency HPO Source Accession
1 elevated serum creatine kinase 33 occasional (7.5%) HP:0003236
2 ptosis 33 HP:0000508
3 scoliosis 33 HP:0002650
4 facial palsy 33 HP:0010628
5 flexion contracture 33 HP:0001371
6 myopathy 33 HP:0003198
7 generalized muscle weakness 33 HP:0003324
8 arrhythmia 33 HP:0011675
9 dilated cardiomyopathy 33 HP:0001644
10 motor delay 33 HP:0001270
11 centrally nucleated skeletal muscle fibers 33 HP:0003687
12 calf muscle hypertrophy 33 HP:0008981
13 mitochondrial depletion 33 HP:0030059

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
ptosis

Cardiovascular Heart:
arrhythmia
dilated cardiomyopathy
cardiac septal defects

Head And Neck Face:
facial muscle weakness

Laboratory Abnormalities:
serum creatine kinase may be increased

Skeletal Spine:
scoliosis

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

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 30 TTN

Anatomical Context for Salih Myopathy

MalaCards organs/tissues related to Salih Myopathy:

42
Skeletal Muscle, Heart, Bone

Publications for Salih Myopathy

Articles related to Salih Myopathy:

# Title Authors Year
1
Recessive TTN truncating mutations define novel forms of core myopathy with heart disease. ( 24105469 )
2014
2
C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy. ( 17444505 )
2007

Variations for Salih Myopathy

ClinVar genetic disease variations for Salih Myopathy:

6 (show top 50) (show all 2233)
# 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 TTN: c.106668delA (p.Lys35556Argfs) deletion Pathogenic rs587776772 GRCh38 Chromosome 2, 178529083: 178529083
4 TTN TTN: c.106668delA (p.Lys35556Argfs) deletion Pathogenic rs587776772 GRCh37 Chromosome 2, 179393810: 179393810
5 TTN NM_133378.4(TTN): c.97820_97827delACCAAGTG (p.Gln32608Hisfs) deletion Pathogenic rs199469665 GRCh37 Chromosome 2, 179395811: 179395818
6 TTN NM_133378.4(TTN): c.97820_97827delACCAAGTG (p.Gln32608Hisfs) deletion Pathogenic rs199469665 GRCh38 Chromosome 2, 178531084: 178531091
7 TTN NM_001256850.1(TTN): c.102966delA (p.Lys34322Asnfs) deletion Pathogenic rs281864930 GRCh37 Chromosome 2, 179391826: 179391826
8 TTN NM_001256850.1(TTN): c.102966delA (p.Lys34322Asnfs) deletion Pathogenic rs281864930 GRCh38 Chromosome 2, 178527099: 178527099
9 TTN TTN: c.1003G> A (p.Val335Met) single nucleotide variant Benign/Likely benign rs72647846 GRCh37 Chromosome 2, 179659891: 179659891
10 TTN TTN: c.1003G> A (p.Val335Met) single nucleotide variant Benign/Likely benign rs72647846 GRCh38 Chromosome 2, 178795164: 178795164
11 TTN NM_133378.4(TTN): c.10256G> A (p.Ser3419Asn) single nucleotide variant Benign/Likely benign rs2291310 GRCh37 Chromosome 2, 179623758: 179623758
12 TTN NM_133378.4(TTN): c.10256G> A (p.Ser3419Asn) single nucleotide variant Benign/Likely benign rs2291310 GRCh38 Chromosome 2, 178759031: 178759031
13 TTN NM_133378.4(TTN): c.10793G> A (p.Arg3598Lys) single nucleotide variant Benign/Likely benign rs2742347 GRCh37 Chromosome 2, 179600648: 179600648
14 TTN NM_133378.4(TTN): c.10793G> A (p.Arg3598Lys) single nucleotide variant Benign/Likely benign rs2742347 GRCh38 Chromosome 2, 178735921: 178735921
15 TTN NM_133378.4(TTN): c.1079G> C (p.Arg360Thr) single nucleotide variant Benign/Likely benign rs56128843 GRCh37 Chromosome 2, 179659815: 179659815
16 TTN NM_133378.4(TTN): c.1079G> C (p.Arg360Thr) single nucleotide variant Benign/Likely benign rs56128843 GRCh38 Chromosome 2, 178795088: 178795088
17 TTN NM_133378.4(TTN): c.10878C> T (p.Ser3626=) single nucleotide variant Benign/Likely benign rs2742348 GRCh37 Chromosome 2, 179600563: 179600563
18 TTN NM_133378.4(TTN): c.10878C> T (p.Ser3626=) single nucleotide variant Benign/Likely benign rs2742348 GRCh38 Chromosome 2, 178735836: 178735836
19 TTN NM_133378.4(TTN): c.11033G> A (p.Ser3678Asn) single nucleotide variant Benign/Likely benign rs184740744 GRCh37 Chromosome 2, 179600408: 179600408
20 TTN NM_133378.4(TTN): c.11033G> A (p.Ser3678Asn) single nucleotide variant Benign/Likely benign rs184740744 GRCh38 Chromosome 2, 178735681: 178735681
21 TTN NM_133378.4(TTN): c.11252C> G (p.Pro3751Arg) single nucleotide variant Benign/Likely benign rs72648927 GRCh37 Chromosome 2, 179599667: 179599667
22 TTN NM_133378.4(TTN): c.11252C> G (p.Pro3751Arg) single nucleotide variant Benign/Likely benign rs72648927 GRCh38 Chromosome 2, 178734940: 178734940
23 TTN NM_133378.4(TTN): c.11446G> A (p.Val3816Ile) single nucleotide variant Benign/Likely benign rs72648929 GRCh37 Chromosome 2, 179599473: 179599473
24 TTN NM_133378.4(TTN): c.11446G> A (p.Val3816Ile) single nucleotide variant Benign/Likely benign rs72648929 GRCh38 Chromosome 2, 178734746: 178734746
25 TTN NM_133378.4(TTN): c.11446G> C (p.Val3816Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs72648929 GRCh37 Chromosome 2, 179599473: 179599473
26 TTN NM_133378.4(TTN): c.11446G> C (p.Val3816Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs72648929 GRCh38 Chromosome 2, 178734746: 178734746
27 TTN NM_003319.4(TTN): c.13282+4410G> A single nucleotide variant Benign/Likely benign rs72648932 GRCh37 Chromosome 2, 179598399: 179598399
28 TTN NM_003319.4(TTN): c.13282+4410G> A single nucleotide variant Benign/Likely benign rs72648932 GRCh38 Chromosome 2, 178733672: 178733672
29 TTN TTN: c.15792T> C (p.Ile5264=) single nucleotide variant Benign/Likely benign rs12993099 GRCh37 Chromosome 2, 179598228: 179598228
30 TTN TTN: c.15792T> C (p.Ile5264=) single nucleotide variant Benign/Likely benign rs12993099 GRCh38 Chromosome 2, 178733501: 178733501
31 TTN NM_133378.4(TTN): c.12363C> T (p.Asn4121=) single nucleotide variant Benign/Likely benign rs72648935 GRCh37 Chromosome 2, 179597808: 179597808
32 TTN NM_133378.4(TTN): c.12363C> T (p.Asn4121=) single nucleotide variant Benign/Likely benign rs72648935 GRCh38 Chromosome 2, 178733081: 178733081
33 TTN NM_133378.4(TTN): c.12381T> C (p.Asn4127=) single nucleotide variant Conflicting interpretations of pathogenicity rs143845692 GRCh37 Chromosome 2, 179597790: 179597790
34 TTN NM_133378.4(TTN): c.12381T> C (p.Asn4127=) single nucleotide variant Conflicting interpretations of pathogenicity rs143845692 GRCh38 Chromosome 2, 178733063: 178733063
35 TTN NM_133378.4(TTN): c.12571G> A (p.Val4191Met) single nucleotide variant Conflicting interpretations of pathogenicity rs72648937 GRCh37 Chromosome 2, 179597600: 179597600
36 TTN NM_133378.4(TTN): c.12571G> A (p.Val4191Met) single nucleotide variant Conflicting interpretations of pathogenicity rs72648937 GRCh38 Chromosome 2, 178732873: 178732873
37 TTN NM_133378.4(TTN): c.12797A> G (p.Tyr4266Cys) single nucleotide variant Benign/Likely benign rs72648939 GRCh37 Chromosome 2, 179597259: 179597259
38 TTN NM_133378.4(TTN): c.12797A> G (p.Tyr4266Cys) single nucleotide variant Benign/Likely benign rs72648939 GRCh38 Chromosome 2, 178732532: 178732532
39 TTN NM_133378.4(TTN): c.13316A> G (p.Tyr4439Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs72648942 GRCh37 Chromosome 2, 179596554: 179596554
40 TTN NM_133378.4(TTN): c.13316A> G (p.Tyr4439Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs72648942 GRCh38 Chromosome 2, 178731827: 178731827
41 TTN NM_133378.4(TTN): c.13451-7C> T single nucleotide variant Conflicting interpretations of pathogenicity rs371785683 GRCh37 Chromosome 2, 179596317: 179596317
42 TTN NM_133378.4(TTN): c.13451-7C> T single nucleotide variant Conflicting interpretations of pathogenicity rs371785683 GRCh38 Chromosome 2, 178731590: 178731590
43 TTN NM_133378.4(TTN): c.1365G> A (p.Thr455=) single nucleotide variant Conflicting interpretations of pathogenicity rs145211131 GRCh37 Chromosome 2, 179659159: 179659159
44 TTN NM_133378.4(TTN): c.1365G> A (p.Thr455=) single nucleotide variant Conflicting interpretations of pathogenicity rs145211131 GRCh38 Chromosome 2, 178794432: 178794432
45 TTN NM_133378.4(TTN): c.1398+8C> T single nucleotide variant Benign/Likely benign rs72647848 GRCh37 Chromosome 2, 179659118: 179659118
46 TTN NM_133378.4(TTN): c.1398+8C> T single nucleotide variant Benign/Likely benign rs72647848 GRCh38 Chromosome 2, 178794391: 178794391
47 TTN NM_001267550.2(TTN): c.17741-9A> G single nucleotide variant Benign/Likely benign rs72648944 GRCh37 Chromosome 2, 179595528: 179595528
48 TTN NM_001267550.2(TTN): c.17741-9A> G single nucleotide variant Benign/Likely benign rs72648944 GRCh38 Chromosome 2, 178730801: 178730801
49 TTN NM_133378.4(TTN): c.14156A> G (p.Glu4719Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs146983095 GRCh37 Chromosome 2, 179595372: 179595372
50 TTN NM_133378.4(TTN): c.14156A> G (p.Glu4719Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs146983095 GRCh38 Chromosome 2, 178730645: 178730645

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

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75 UMLS via Orphanet
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