MCID: SLH001
MIFTS: 25

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 57 24 25 59 75
Myopathy, Early-Onset, with Fatal Cardiomyopathy 57 75 29 13 6 40 73
Early-Onset Myopathy with Fatal Cardiomyopathy 24 25 59 75
Eomfc 57 25 59 75
Salmy 57 75
Titinopathy & Early-Onset Myopathy with Fatal Cardiomyopathy 25
Myopathy, Early-Onset, with Fatal Cardiomyopathy; Eomfc 57
Salih Congenital Muscular Dystrophy 25
Salih Cmd 25

Characteristics:

Orphanet epidemiological data:

59
early-onset myopathy with fatal cardiomyopathy
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM:

57
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 congenital onset infantile onset
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


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 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 and heart, and related phenotypes are ptosis and scoliosis

UniProtKB/Swiss-Prot : 75 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 10.2
2 muscular dystrophy 10.2
3 myopathy 10.0

Symptoms & Phenotypes for Salih Myopathy

Symptoms via clinical synopsis from OMIM:

57
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:

32 (show all 12)
# Description HPO Frequency HPO Source Accession
1 ptosis 32 HP:0000508
2 scoliosis 32 HP:0002650
3 facial palsy 32 HP:0010628
4 flexion contracture 32 HP:0001371
5 myopathy 32 HP:0003198
6 elevated serum creatine phosphokinase 32 occasional (7.5%) HP:0003236
7 generalized muscle weakness 32 HP:0003324
8 arrhythmia 32 HP:0011675
9 motor delay 32 HP:0001270
10 dilated cardiomyopathy 32 HP:0001644
11 calf muscle hypertrophy 32 HP:0008981
12 centrally nucleated skeletal muscle fibers 32 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 29 TTN

Anatomical Context for Salih Myopathy

MalaCards organs/tissues related to Salih Myopathy:

41
Skeletal Muscle, Heart

Publications for Salih Myopathy

Articles related to Salih Myopathy:

# Title Authors Year
1
Salih Myopathy ( 22238790 )
1993

Variations for Salih Myopathy

ClinVar genetic disease variations for Salih Myopathy:

6
(show top 50) (show all 1089)
# 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 NM_001256850.1(TTN): c.56953C> T (p.Arg18985Ter) single nucleotide variant Pathogenic/Likely pathogenic rs72646846 GRCh37 Chromosome 2, 179454576: 179454576
10 TTN NM_001256850.1(TTN): c.56953C> T (p.Arg18985Ter) single nucleotide variant Pathogenic/Likely pathogenic rs72646846 GRCh38 Chromosome 2, 178589849: 178589849
11 TTN NM_001256850.1(TTN): c.90211T> C (p.Cys30071Arg) single nucleotide variant Pathogenic rs869320740 GRCh37 Chromosome 2, 179410829: 179410829
12 TTN NM_001256850.1(TTN): c.90211T> C (p.Cys30071Arg) single nucleotide variant Pathogenic rs869320740 GRCh38 Chromosome 2, 178546102: 178546102
13 TTN NM_001256850.1(TTN): c.95477T> G (p.Val31826Gly) single nucleotide variant Uncertain significance rs200166942 GRCh37 Chromosome 2, 179401074: 179401074
14 TTN NM_001256850.1(TTN): c.95477T> G (p.Val31826Gly) single nucleotide variant Uncertain significance rs200166942 GRCh38 Chromosome 2, 178536347: 178536347
15 TTN NM_133378.4(TTN): c.89227A> G (p.Met29743Val) single nucleotide variant Uncertain significance rs727504981 GRCh37 Chromosome 2, 179407650: 179407650
16 TTN NM_133378.4(TTN): c.89227A> G (p.Met29743Val) single nucleotide variant Uncertain significance rs727504981 GRCh38 Chromosome 2, 178542923: 178542923
17 TTN NM_133379.4(TTN): c.*265+198852C> T single nucleotide variant Conflicting interpretations of pathogenicity rs373871146 GRCh37 Chromosome 2, 179411195: 179411195
18 TTN NM_133379.4(TTN): c.*265+198852C> T single nucleotide variant Conflicting interpretations of pathogenicity rs373871146 GRCh38 Chromosome 2, 178546468: 178546468
19 TTN NM_133378.4(TTN): c.84980G> A (p.Arg28327Gln) single nucleotide variant Uncertain significance rs200141081 GRCh37 Chromosome 2, 179413669: 179413669
20 TTN NM_133378.4(TTN): c.84980G> A (p.Arg28327Gln) single nucleotide variant Uncertain significance rs200141081 GRCh38 Chromosome 2, 178548942: 178548942
21 TTN NM_001256850.1(TTN): c.85066T> A (p.Leu28356Met) single nucleotide variant Conflicting interpretations of pathogenicity rs369855092 GRCh37 Chromosome 2, 179417638: 179417638
22 TTN NM_001256850.1(TTN): c.85066T> A (p.Leu28356Met) single nucleotide variant Conflicting interpretations of pathogenicity rs369855092 GRCh38 Chromosome 2, 178552911: 178552911
23 TTN NM_133378.4(TTN): c.79433T> G (p.Met26478Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs143975327 GRCh37 Chromosome 2, 179422944: 179422944
24 TTN NM_133378.4(TTN): c.79433T> G (p.Met26478Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs143975327 GRCh38 Chromosome 2, 178558217: 178558217
25 TTN NM_001256850.1(TTN): c.77015G> A (p.Gly25672Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs199670463 GRCh37 Chromosome 2, 179428921: 179428921
26 TTN NM_001256850.1(TTN): c.77015G> A (p.Gly25672Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs199670463 GRCh38 Chromosome 2, 178564194: 178564194
27 TTN NM_133378.4(TTN): c.73154C> T (p.Thr24385Met) single nucleotide variant Conflicting interpretations of pathogenicity rs377506142 GRCh37 Chromosome 2, 179430001: 179430001
28 TTN NM_133378.4(TTN): c.73154C> T (p.Thr24385Met) single nucleotide variant Conflicting interpretations of pathogenicity rs377506142 GRCh38 Chromosome 2, 178565274: 178565274
29 TTN NM_133378.4(TTN): c.72997A> G (p.Ile24333Val) single nucleotide variant Conflicting interpretations of pathogenicity rs201562505 GRCh37 Chromosome 2, 179430158: 179430158
30 TTN NM_133378.4(TTN): c.72997A> G (p.Ile24333Val) single nucleotide variant Conflicting interpretations of pathogenicity rs201562505 GRCh38 Chromosome 2, 178565431: 178565431
31 TTN NM_001267550.2(TTN): c.80115G> T (p.Glu26705Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs558830502 GRCh37 Chromosome 2, 179430744: 179430744
32 TTN NM_001267550.2(TTN): c.80115G> T (p.Glu26705Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs558830502 GRCh38 Chromosome 2, 178566017: 178566017
33 TTN NM_133378.4(TTN): c.43974C> T (p.Asn14658=) single nucleotide variant Conflicting interpretations of pathogenicity rs372635204 GRCh37 Chromosome 2, 179474472: 179474472
34 TTN NM_133378.4(TTN): c.43974C> T (p.Asn14658=) single nucleotide variant Conflicting interpretations of pathogenicity rs372635204 GRCh38 Chromosome 2, 178609745: 178609745
35 TTN NM_001256850.1(TTN): c.43055C> A (p.Thr14352Asn) single nucleotide variant Uncertain significance rs727503622 GRCh37 Chromosome 2, 179481638: 179481638
36 TTN NM_001256850.1(TTN): c.43055C> A (p.Thr14352Asn) single nucleotide variant Uncertain significance rs727503622 GRCh38 Chromosome 2, 178616911: 178616911
37 TTN NM_133378.4(TTN): c.39143C> T (p.Thr13048Met) single nucleotide variant Conflicting interpretations of pathogenicity rs368057764 GRCh37 Chromosome 2, 179483430: 179483430
38 TTN NM_133378.4(TTN): c.39143C> T (p.Thr13048Met) single nucleotide variant Conflicting interpretations of pathogenicity rs368057764 GRCh38 Chromosome 2, 178618703: 178618703
39 TTN NM_001267550.2(TTN): c.107961T> C (p.His35987=) single nucleotide variant Conflicting interpretations of pathogenicity rs377439315 GRCh37 Chromosome 2, 179391754: 179391754
40 TTN NM_001267550.2(TTN): c.107961T> C (p.His35987=) single nucleotide variant Conflicting interpretations of pathogenicity rs377439315 GRCh38 Chromosome 2, 178527027: 178527027
41 TTN NM_133378.4(TTN): c.65900C> A (p.Ser21967Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs201804005 GRCh37 Chromosome 2, 179437255: 179437255
42 TTN NM_133378.4(TTN): c.65900C> A (p.Ser21967Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs201804005 GRCh38 Chromosome 2, 178572528: 178572528
43 TTN NM_133378.4(TTN): c.62427A> G (p.Thr20809=) single nucleotide variant Conflicting interpretations of pathogenicity rs369503828 GRCh37 Chromosome 2, 179440728: 179440728
44 TTN NM_133378.4(TTN): c.62427A> G (p.Thr20809=) single nucleotide variant Conflicting interpretations of pathogenicity rs369503828 GRCh38 Chromosome 2, 178576001: 178576001
45 TTN NM_133378.4(TTN): c.60733G> A (p.Glu20245Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs200797552 GRCh37 Chromosome 2, 179442805: 179442805
46 TTN NM_133378.4(TTN): c.60733G> A (p.Glu20245Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs200797552 GRCh38 Chromosome 2, 178578078: 178578078
47 TTN NM_133378.4(TTN): c.58456+15C> T single nucleotide variant Conflicting interpretations of pathogenicity rs377288086 GRCh37 Chromosome 2, 179447008: 179447008
48 TTN NM_133378.4(TTN): c.58456+15C> T single nucleotide variant Conflicting interpretations of pathogenicity rs377288086 GRCh38 Chromosome 2, 178582281: 178582281
49 TTN NM_133378.4(TTN): c.58042C> T (p.Arg19348Trp) single nucleotide variant Uncertain significance rs200155485 GRCh37 Chromosome 2, 179447784: 179447784
50 TTN NM_133378.4(TTN): c.58042C> T (p.Arg19348Trp) single nucleotide variant Uncertain significance rs200155485 GRCh38 Chromosome 2, 178583057: 178583057

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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17 ExPASy
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69 SNOMED-CT via HPO
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74 UMLS via Orphanet
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