MCID: SLH001
MIFTS: 26

Salih Myopathy

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

Aliases & Classifications for Salih Myopathy

MalaCards integrated aliases for Salih Myopathy:

Name: Salih Myopathy 53 23 24 71
Myopathy, Early-Onset, with Fatal Cardiomyopathy 53 71 28 13 69
Early-Onset Myopathy with Fatal Cardiomyopathy 23 24 55 71
Eomfc 53 24 71
Salmy 53 71
Titinopathy & Early-Onset Myopathy with Fatal Cardiomyopathy 24
Myopathy, Early-Onset, with Fatal Cardiomyopathy; Eomfc 53
Salih Congenital Muscular Dystrophy 24
Salih Cmd 24

Characteristics:

Orphanet epidemiological data:

55
early-onset myopathy with fatal cardiomyopathy
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM:

53
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:
Mortality/Aging sudden death
Onset and clinical course congenital onset infantile onset
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 55  
Rare neurological diseases


Summaries for Salih Myopathy

Genetics Home Reference : 24 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 generalized muscle weakness, ptosis and scoliosis. An important gene associated with Salih Myopathy is TTN (Titin). Affiliated tissues include skeletal muscle and heart.

UniProtKB/Swiss-Prot : 71 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 10.1
2 muscular dystrophy 10.1
3 myopathy 10.0

Symptoms & Phenotypes for Salih Myopathy

Symptoms via clinical synopsis from OMIM:

53
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

Human phenotypes related to Salih Myopathy:

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

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 28 TTN

Anatomical Context for Salih Myopathy

MalaCards organs/tissues related to Salih Myopathy:

38
Skeletal Muscle, Heart

Publications for Salih Myopathy

Articles related to Salih Myopathy:

# Title Authors Year
1
C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy. ( 17444505 )
2007
2
Salih Myopathy ( 22238790 )
1993

Variations for Salih Myopathy

ClinVar genetic disease variations for Salih Myopathy:

6 (show all 37)
# Gene Variation Type Significance SNP ID Assembly Location
1 TTN NM_133378.4(TTN) indel Pathogenic rs281864927 GRCh37 Chromosome 2, 179391925: 179391935
2 TTN TTN: c.106668delA (p.Lys35556Argfs) deletion Pathogenic rs587776772 GRCh38 Chromosome 2, 178529083: 178529083
3 TTN NM_133378.4(TTN): c.97820_97827delACCAAGTG (p.Gln32608Hisfs) deletion Pathogenic rs199469665 GRCh37 Chromosome 2, 179395811: 179395818
4 TTN NM_001256850.1(TTN): c.102966delA (p.Lys34322Asnfs) deletion Pathogenic rs281864930 GRCh37 Chromosome 2, 179391826: 179391826
5 TTN NM_001256850.1(TTN): c.56953C> T (p.Arg18985Ter) single nucleotide variant Likely pathogenic rs72646846 GRCh37 Chromosome 2, 179454576: 179454576
6 TTN NM_001256850.1(TTN): c.90211T> C (p.Cys30071Arg) single nucleotide variant Pathogenic rs869320740 GRCh37 Chromosome 2, 179410829: 179410829
7 TTN NM_001267550.2(TTN): c.67495C> T (p.Arg22499Ter) single nucleotide variant Pathogenic/Likely pathogenic rs574660186 GRCh37 Chromosome 2, 179444429: 179444429
8 TTN NM_001267550.2(TTN): c.49336dupT (p.Tyr16446Leufs) duplication Likely pathogenic rs797044683 GRCh37 Chromosome 2, 179478788: 179478788
9 TTN NM_001267550.2(TTN): c.53995G> T (p.Glu17999Ter) single nucleotide variant Likely pathogenic rs794727387 GRCh37 Chromosome 2, 179469909: 179469909
10 TTN NM_001267550.2(TTN): c.60681dupT (p.Lys20228Terfs) duplication Likely pathogenic rs797044692 GRCh37 Chromosome 2, 179455771: 179455771
11 TTN NM_001267550.2(TTN): c.79162G> T (p.Gly26388Ter) single nucleotide variant Likely pathogenic rs763822931 GRCh37 Chromosome 2, 179431697: 179431697
12 TTN NM_001267550.2(TTN): c.82544_82545insTTAG (p.Arg27515Serfs) insertion Likely pathogenic rs797044697 GRCh37 Chromosome 2, 179428314: 179428315
13 TTN NM_001267550.2(TTN): c.88594+1G> T single nucleotide variant Likely pathogenic rs794727467 GRCh37 Chromosome 2, 179419591: 179419591
14 TTN NM_001267550.2(TTN): c.88979_88985delATGGCGG (p.Asp29660Valfs) deletion Likely pathogenic rs794727468 GRCh37 Chromosome 2, 179418853: 179418859
15 TTN NM_001267550.2(TTN): c.99719C> G (p.Ser33240Ter) single nucleotide variant Likely pathogenic rs794727539 GRCh37 Chromosome 2, 179402215: 179402215
16 TTN NM_001267550.2(TTN): c.107163_107167delTACTT (p.Phe35721Leufs) deletion Likely pathogenic rs794727544 GRCh37 Chromosome 2, 179393311: 179393315
17 TTN NM_001256850.1(TTN): c.75927C> G (p.Tyr25309Ter) single nucleotide variant Likely pathogenic rs794729291 GRCh37 Chromosome 2, 179430009: 179430009
18 TTN NM_001256850.1(TTN): c.59757dupC (p.Gly19920Argfs) duplication Pathogenic/Likely pathogenic rs794729330 GRCh37 Chromosome 2, 179449688: 179449688
19 TTN NM_001256850.1(TTN): c.76114C> T (p.Arg25372Ter) single nucleotide variant Pathogenic/Likely pathogenic rs869038795 GRCh38 Chromosome 2, 178565095: 178565095
20 TTN NM_001256850.1(TTN): c.62425+1G> A single nucleotide variant Likely pathogenic rs758279518 GRCh37 Chromosome 2, 179444665: 179444665
21 TTN NM_001267550.2(TTN): c.66160+2T> C single nucleotide variant Likely pathogenic rs753146898 GRCh37 Chromosome 2, 179447021: 179447021
22 TTN NM_001256850.1(TTN): c.77113C> T (p.Gln25705Ter) single nucleotide variant Pathogenic/Likely pathogenic rs886042331 GRCh37 Chromosome 2, 179428823: 179428823
23 TTN NM_001267550.2(TTN): c.51883_51892delAAGCGTGCAG (p.Lys17295Hisfs) deletion Likely pathogenic rs886042414 GRCh37 Chromosome 2, 179474145: 179474154
24 TTN NM_001267550.2(TTN): c.70754delT (p.Val23585Glyfs) deletion Likely pathogenic rs886042441 GRCh37 Chromosome 2, 179440105: 179440105
25 TTN NM_001267550.2(TTN): c.91798_91799insT (p.Glu30600Valfs) insertion Likely pathogenic rs886042502 GRCh37 Chromosome 2, 179414766: 179414767
26 TTN indel Likely pathogenic GRCh37 Chromosome 2, 179433196: 179433213
27 TTN NM_001267550.2(TTN): c.54190+1G> A single nucleotide variant Likely pathogenic rs756339648 GRCh37 Chromosome 2, 179469713: 179469713
28 TTN NM_001267550.2(TTN): c.51459_51462delTGTA (p.Asp17153Glufs) deletion Likely pathogenic rs886043718 GRCh37 Chromosome 2, 179474688: 179474691
29 TTN NM_001267550.2(TTN): c.104399delG (p.Arg34800Lysfs) deletion Likely pathogenic rs747662439 GRCh37 Chromosome 2, 179396943: 179396943
30 TTN NM_001267550.2(TTN): c.99920_99921insTC (p.Ala33308Profs) insertion Likely pathogenic rs886043854 GRCh37 Chromosome 2, 179401915: 179401916
31 TTN NM_001256850.1(TTN): c.100831C> T (p.Arg33611Ter) single nucleotide variant Pathogenic/Likely pathogenic rs886043924 GRCh37 Chromosome 2, 179395588: 179395588
32 TTN NM_001267550.2(TTN): c.47629C> T (p.Gln15877Ter) single nucleotide variant Likely pathogenic rs886044009 GRCh37 Chromosome 2, 179482183: 179482183
33 TTN NM_001267550.2(TTN): c.78197dupA (p.Tyr26066Terfs) duplication Likely pathogenic GRCh37 Chromosome 2, 179432662: 179432662
34 TTN NM_001267550.2(TTN): c.56294delC (p.Thr18765Lysfs) deletion Likely pathogenic rs886044096 GRCh38 Chromosome 2, 178599607: 178599607
35 TTN NM_001267550.2(TTN): c.90561delT (p.Thr30188Leufs) deletion Likely pathogenic rs886044318 GRCh37 Chromosome 2, 179417066: 179417066
36 TTN NM_001267550.2(TTN): c.68885_68888dupATAC (p.Ile22964Tyrfs) duplication Pathogenic/Likely pathogenic rs757603460 GRCh38 Chromosome 2, 178577447: 178577450
37 TTN NM_001267550.2(TTN): c.89221dupA (p.Ile29741Asnfs) duplication Likely pathogenic GRCh37 Chromosome 2, 179418511: 179418511

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
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47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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