MCID: SLH001
MIFTS: 27

Salih Myopathy

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

Aliases & Classifications for Salih Myopathy

MalaCards integrated aliases for Salih Myopathy:

Name: Salih Myopathy 54 23 24 25
Early-Onset Myopathy with Fatal Cardiomyopathy 23 24 25 56 71
Myopathy, Early-Onset, with Fatal Cardiomyopathy 29 13 69
Eomfc 25 71
Titinopathy & Early-Onset Myopathy with Fatal Cardiomyopathy 25
Salih Congenital Muscular Dystrophy 25
Salih Cmd 25

Characteristics:

Orphanet epidemiological data:

56
early-onset myopathy with fatal cardiomyopathy
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM:

54
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:

32
salih myopathy:
Mortality/Aging sudden death
Onset and clinical course infantile onset congenital onset
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

OMIM 54 611705
Orphanet 56 ORPHA289377
UMLS via Orphanet 70 C2673677
ICD10 via Orphanet 34 G71.8
MedGen 40 C2673677

Summaries for Salih Myopathy

Genetics Home Reference : 25 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 early-onset myopathy with fatal cardiomyopathy, is related to muscular dystrophy and myopathy, and has symptoms including ptosis, dilated cardiomyopathy and myopathy. An important gene associated with Salih Myopathy is TTN (Titin). Affiliated tissues include skeletal muscle and heart.

UniProtKB/Swiss-Prot : 71 Early-onset myopathy with fatal cardiomyopathy: Early-onset myopathies are inherited muscle disorders that manifest typically from birth or infancy with hypotonia, muscle weakness, and delayed motor development. EOMFC is a titinopathy that, in contrast with the previously described examples, involves both heart and skeletal muscle, has a congenital onset, and is purely recessive. This phenotype is due to homozygous out-of-frame TTN deletions, which lead to a total absence of titin's C-terminal end from striated muscles and to secondary CAPN3 depletion.

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:

id Related Disease Score Top Affiliating Genes
1 muscular dystrophy 10.0
2 myopathy 9.9

Symptoms & Phenotypes for Salih Myopathy

Symptoms via clinical synopsis from OMIM:

54

Skeletal:
joint contractures

Muscle Soft Tissue:
delayed motor development
muscle weakness, generalized, proximal and distal
calf hypertrophy
muscle biopsy shows centralized nuclei
type 1 fiber predominance
more
Cardiovascular- Heart:
dilated cardiomyopathy
arrhythmia
cardiac septal defects

Laboratory- Abnormalities:
serum creatine kinase may be increased

Skeletal- Spine:
scoliosis

Head And Neck- Eyes:
ptosis

Head And Neck- Face:
facial muscle weakness


Clinical features from OMIM:

611705

Human phenotypes related to Salih Myopathy:

32 (show all 10)
id Description HPO Frequency HPO Source Accession
1 ptosis 32 HP:0000508
2 dilated cardiomyopathy 32 HP:0001644
3 myopathy 32 HP:0003198
4 motor delay 32 HP:0001270
5 arrhythmia 32 HP:0011675
6 generalized muscle weakness 32 HP:0003324
7 facial palsy 32 HP:0010628
8 calf muscle hypertrophy 32 HP:0008981
9 elevated serum creatine phosphokinase 32 occasional (7.5%) HP:0003236
10 centrally nucleated skeletal muscle fibers 32 HP:0003687

UMLS symptoms related to Salih Myopathy:


facial paresis

Drugs & Therapeutics for Salih Myopathy

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 SPATAX: Clinical and Genetic Analysis of Cerebellar Ataxias and Spastic Paraplegias Unknown status NCT00140829 Phase 1

Search NIH Clinical Center for Salih Myopathy

Genetic Tests for Salih Myopathy

Genetic tests related to Salih Myopathy:

id Genetic test Affiliating Genes
1 Myopathy, Early-Onset, with Fatal Cardiomyopathy 29
2 Salih Myopathy 24 TTN

Anatomical Context for Salih Myopathy

MalaCards organs/tissues related to Salih Myopathy:

39
Skeletal Muscle, Heart

Publications for Salih Myopathy

Articles related to Salih Myopathy:

id Title Authors Year
1
Salih Myopathy ( 22238790 )
1993

Variations for Salih Myopathy

ClinVar genetic disease variations for Salih Myopathy:

6 (show all 37)
id 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 Pathogenic/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 GRCh37 Chromosome 2, 179429822: 179429822
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 GRCh37 Chromosome 2, 179464334: 179464334
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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....