SALMY
MCID: SLH001
MIFTS: 24

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:
Mortality/Aging 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, 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 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

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 2007)
# Gene Variation Type Significance SNP ID Assembly Location
1 TTN NM_001256850.1(TTN): c.95477T> G (p.Val31826Gly) single nucleotide variant Uncertain significance rs200166942 GRCh37 Chromosome 2, 179401074: 179401074
2 TTN NM_001256850.1(TTN): c.95477T> G (p.Val31826Gly) single nucleotide variant Uncertain significance rs200166942 GRCh38 Chromosome 2, 178536347: 178536347
3 TTN NM_133378.4(TTN): c.89227A> G (p.Met29743Val) single nucleotide variant Uncertain significance rs727504981 GRCh38 Chromosome 2, 178542923: 178542923
4 TTN NM_133378.4(TTN): c.89227A> G (p.Met29743Val) single nucleotide variant Uncertain significance rs727504981 GRCh37 Chromosome 2, 179407650: 179407650
5 TTN NM_133379.4(TTN): c.*265+198852C> T single nucleotide variant Conflicting interpretations of pathogenicity rs373871146 GRCh37 Chromosome 2, 179411195: 179411195
6 TTN NM_133379.4(TTN): c.*265+198852C> T single nucleotide variant Conflicting interpretations of pathogenicity rs373871146 GRCh38 Chromosome 2, 178546468: 178546468
7 TTN NM_133378.4(TTN): c.84980G> A (p.Arg28327Gln) single nucleotide variant Uncertain significance rs200141081 GRCh37 Chromosome 2, 179413669: 179413669
8 TTN NM_133378.4(TTN): c.84980G> A (p.Arg28327Gln) single nucleotide variant Uncertain significance rs200141081 GRCh38 Chromosome 2, 178548942: 178548942
9 TTN NM_001256850.1(TTN): c.85066T> A (p.Leu28356Met) single nucleotide variant Conflicting interpretations of pathogenicity rs369855092 GRCh38 Chromosome 2, 178552911: 178552911
10 TTN NM_001256850.1(TTN): c.85066T> A (p.Leu28356Met) single nucleotide variant Conflicting interpretations of pathogenicity rs369855092 GRCh37 Chromosome 2, 179417638: 179417638
11 TTN NM_133378.4(TTN): c.79433T> G (p.Met26478Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs143975327 GRCh38 Chromosome 2, 178558217: 178558217
12 TTN NM_133378.4(TTN): c.79433T> G (p.Met26478Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs143975327 GRCh37 Chromosome 2, 179422944: 179422944
13 TTN NM_001256850.1(TTN): c.77015G> A (p.Gly25672Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs199670463 GRCh37 Chromosome 2, 179428921: 179428921
14 TTN NM_001256850.1(TTN): c.77015G> A (p.Gly25672Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs199670463 GRCh38 Chromosome 2, 178564194: 178564194
15 TTN NM_133378.4(TTN): c.73154C> T (p.Thr24385Met) single nucleotide variant Conflicting interpretations of pathogenicity rs377506142 GRCh38 Chromosome 2, 178565274: 178565274
16 TTN NM_133378.4(TTN): c.73154C> T (p.Thr24385Met) single nucleotide variant Conflicting interpretations of pathogenicity rs377506142 GRCh37 Chromosome 2, 179430001: 179430001
17 TTN NM_133378.4(TTN): c.72997A> G (p.Ile24333Val) single nucleotide variant Conflicting interpretations of pathogenicity rs201562505 GRCh37 Chromosome 2, 179430158: 179430158
18 TTN NM_133378.4(TTN): c.72997A> G (p.Ile24333Val) single nucleotide variant Conflicting interpretations of pathogenicity rs201562505 GRCh38 Chromosome 2, 178565431: 178565431
19 TTN NM_001267550.2(TTN): c.80115G> T (p.Glu26705Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs558830502 GRCh38 Chromosome 2, 178566017: 178566017
20 TTN NM_001267550.2(TTN): c.80115G> T (p.Glu26705Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs558830502 GRCh37 Chromosome 2, 179430744: 179430744
21 TTN NM_133378.4(TTN): c.43974C> T (p.Asn14658=) single nucleotide variant Conflicting interpretations of pathogenicity rs372635204 GRCh37 Chromosome 2, 179474472: 179474472
22 TTN NM_133378.4(TTN): c.43974C> T (p.Asn14658=) single nucleotide variant Conflicting interpretations of pathogenicity rs372635204 GRCh38 Chromosome 2, 178609745: 178609745
23 TTN NM_001256850.1(TTN): c.43055C> A (p.Thr14352Asn) single nucleotide variant Uncertain significance rs727503622 GRCh37 Chromosome 2, 179481638: 179481638
24 TTN NM_001256850.1(TTN): c.43055C> A (p.Thr14352Asn) single nucleotide variant Uncertain significance rs727503622 GRCh38 Chromosome 2, 178616911: 178616911
25 TTN NM_133378.4(TTN): c.39143C> T (p.Thr13048Met) single nucleotide variant Conflicting interpretations of pathogenicity rs368057764 GRCh37 Chromosome 2, 179483430: 179483430
26 TTN NM_133378.4(TTN): c.39143C> T (p.Thr13048Met) single nucleotide variant Conflicting interpretations of pathogenicity rs368057764 GRCh38 Chromosome 2, 178618703: 178618703
27 TTN NM_001267550.2(TTN): c.107961T> C (p.His35987=) single nucleotide variant Conflicting interpretations of pathogenicity rs377439315 GRCh38 Chromosome 2, 178527027: 178527027
28 TTN NM_001267550.2(TTN): c.107961T> C (p.His35987=) single nucleotide variant Conflicting interpretations of pathogenicity rs377439315 GRCh37 Chromosome 2, 179391754: 179391754
29 TTN NM_133378.4(TTN): c.65900C> A (p.Ser21967Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs201804005 GRCh37 Chromosome 2, 179437255: 179437255
30 TTN NM_133378.4(TTN): c.65900C> A (p.Ser21967Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs201804005 GRCh38 Chromosome 2, 178572528: 178572528
31 TTN NM_133378.4(TTN): c.62427A> G (p.Thr20809=) single nucleotide variant Conflicting interpretations of pathogenicity rs369503828 GRCh37 Chromosome 2, 179440728: 179440728
32 TTN NM_133378.4(TTN): c.62427A> G (p.Thr20809=) single nucleotide variant Conflicting interpretations of pathogenicity rs369503828 GRCh38 Chromosome 2, 178576001: 178576001
33 TTN NM_133378.4(TTN): c.60733G> A (p.Glu20245Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs200797552 GRCh38 Chromosome 2, 178578078: 178578078
34 TTN NM_133378.4(TTN): c.60733G> A (p.Glu20245Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs200797552 GRCh37 Chromosome 2, 179442805: 179442805
35 TTN NM_133378.4(TTN): c.58456+15C> T single nucleotide variant Conflicting interpretations of pathogenicity rs377288086 GRCh38 Chromosome 2, 178582281: 178582281
36 TTN NM_133378.4(TTN): c.58456+15C> T single nucleotide variant Conflicting interpretations of pathogenicity rs377288086 GRCh37 Chromosome 2, 179447008: 179447008
37 TTN NM_133378.4(TTN): c.58042C> T (p.Arg19348Trp) single nucleotide variant Uncertain significance rs200155485 GRCh37 Chromosome 2, 179447784: 179447784
38 TTN NM_133378.4(TTN): c.58042C> T (p.Arg19348Trp) single nucleotide variant Uncertain significance rs200155485 GRCh38 Chromosome 2, 178583057: 178583057
39 TTN NM_001256850.1(TTN): c.57352G> A (p.Glu19118Lys) single nucleotide variant Uncertain significance rs562680371 GRCh37 Chromosome 2, 179454177: 179454177
40 TTN NM_001256850.1(TTN): c.57352G> A (p.Glu19118Lys) single nucleotide variant Uncertain significance rs562680371 GRCh38 Chromosome 2, 178589450: 178589450
41 TTN NM_133378.4(TTN): c.48699A> G (p.Gln16233=) single nucleotide variant Conflicting interpretations of pathogenicity rs553313488 GRCh37 Chromosome 2, 179464117: 179464117
42 TTN NM_133378.4(TTN): c.48699A> G (p.Gln16233=) single nucleotide variant Conflicting interpretations of pathogenicity rs553313488 GRCh38 Chromosome 2, 178599390: 178599390
43 TTN NM_133378.4(TTN): c.48221T> A (p.Leu16074Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs140714512 GRCh38 Chromosome 2, 178600979: 178600979
44 TTN NM_133378.4(TTN): c.48221T> A (p.Leu16074Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs140714512 GRCh37 Chromosome 2, 179465706: 179465706
45 TTN NM_133378.4(TTN): c.99673+14C> T single nucleotide variant Conflicting interpretations of pathogenicity rs367908657 GRCh38 Chromosome 2, 178528260: 178528260
46 TTN NM_133378.4(TTN): c.99673+14C> T single nucleotide variant Conflicting interpretations of pathogenicity rs367908657 GRCh37 Chromosome 2, 179392987: 179392987
47 TTN NM_001256850.1(TTN): c.101897C> T (p.Ala33966Val) single nucleotide variant Conflicting interpretations of pathogenicity rs377337528 GRCh38 Chromosome 2, 178528931: 178528931
48 TTN NM_001256850.1(TTN): c.101897C> T (p.Ala33966Val) single nucleotide variant Conflicting interpretations of pathogenicity rs377337528 GRCh37 Chromosome 2, 179393658: 179393658
49 TTN NM_001267550.2(TTN): c.67833C> T (p.Tyr22611=) single nucleotide variant Conflicting interpretations of pathogenicity rs375538420 GRCh38 Chromosome 2, 178579197: 178579197
50 TTN NM_001267550.2(TTN): c.67833C> T (p.Tyr22611=) single nucleotide variant Conflicting interpretations of pathogenicity rs375538420 GRCh37 Chromosome 2, 179443924: 179443924

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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