MCID: RDC017
MIFTS: 26

Reducing Body Myopathy 1a

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

Aliases & Classifications for Reducing Body Myopathy 1a

MalaCards integrated aliases for Reducing Body Myopathy 1a:

Name: Reducing Body Myopathy 1a 12
Reducing Body Myopathy 15

Classifications:



External Ids:

Disease Ontology 12 DOID:0080090

Summaries for Reducing Body Myopathy 1a

Disease Ontology : 12 A myopathy that is characterized by by the presence of intracytoplasmic inclusion bodies strongly stained by menadione-linked alpha-glycerophosphate dehydrogenase in the absence of substrate, alpha-glycerophosphate, with infantile or early childhood onset, and that has material basis in mutation in the FHL1 gene on chromosome Xq26.

MalaCards based summary : Reducing Body Myopathy 1a, also known as reducing body myopathy, is related to reducing body myopathy and foot drop. An important gene associated with Reducing Body Myopathy 1a is FHL1 (Four And A Half LIM Domains 1), and among its related pathways/superpathways is Striated Muscle Contraction. Affiliated tissues include skeletal muscle, and related phenotypes are behavior/neurological and cardiovascular system

Related Diseases for Reducing Body Myopathy 1a

Diseases in the Reducing Body Myopathy family:

Reducing Body Myopathy 1a Reducing Body Myopathy 1b

Diseases related to Reducing Body Myopathy 1a via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 90)
# Related Disease Score Top Affiliating Genes
1 reducing body myopathy 34.8 TTN NEB FHL1
2 foot drop 30.4 TTN NEB FHL1
3 rigid spine muscular dystrophy 1 30.1 TTN MYOT FHL1 BAG3
4 muscular disease 29.5 TTN NEB MYOT EMD
5 scapuloperoneal myopathy 28.7 NRAP MYOT MYOM3 MAP7D3 LIM2 FHL1
6 neuromuscular disease 28.6 TTN TCAP NEB MYOT LDB3 EMD
7 muscular dystrophy 27.8 TTN TCAP NEB MYOT LDB3 FLNC
8 myopathy 27.6 TTN TCAP NEB MYOT LDB3 KLHL40
9 hypertrophic cardiomyopathy 27.4 TTN TCAP MYOM1 LDB3 FLNC FHL1
10 reducing body myopathy, x-linked 1a, severe, with infantile or early childhood onset 12.9
11 reducing body myopathy, x-linked 1b, with late childhood or adult onset 12.8
12 reducing body myopathy 1b 12.5
13 scapuloperoneal syndrome, neurogenic, kaeser type 10.4 NEB MYOT
14 cardioneuromyopathy with hyaline masses and nemaline rods 10.4 TTN NEB
15 cylindrical spirals myopathy 10.4 LIM2 CFL2
16 typical congenital nemaline myopathy 10.4 NEB CFL2
17 central core disease of muscle 10.3 NEB MYOT
18 autosomal recessive limb-girdle muscular dystrophy type 2q 10.3 TCAP MYOT
19 autosomal recessive limb-girdle muscular dystrophy type 2h 10.3 TCAP MYOT
20 autosomal recessive limb-girdle muscular dystrophy type 2c 10.3 TCAP MYOT
21 autosomal recessive limb-girdle muscular dystrophy type 2f 10.3 TCAP MYOT
22 severe congenital nemaline myopathy 10.3 NEB KLHL40
23 muscular dystrophy, limb-girdle, autosomal recessive 8 10.3 TTN TCAP
24 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 10.2 TTN LDB3
25 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 10.2 TTN LDB3
26 hyaline body myopathy 10.2 TTN NEB MYOT
27 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 10.2 TTN LDB3
28 x-linked emery-dreifuss muscular dystrophy 10.2 FHL1 EMD
29 muscular dystrophy, limb-girdle, autosomal recessive 6 10.2 TTN TCAP
30 cardiomyopathy, dilated, 1dd 10.2 TTN LDB3
31 nemaline myopathy 2 10.2 NEB CFL2
32 muscular dystrophy, limb-girdle, autosomal dominant 2 10.2 TCAP MYOT
33 cardiomyopathy, dilated, 1b 10.2 TTN BAG3
34 nemaline myopathy 3 10.2 NEB KLHL40
35 emery-dreifuss muscular dystrophy 5, autosomal dominant 10.2 FHL1 EMD
36 scoliosis 10.2
37 autosomal recessive limb-girdle muscular dystrophy type 2b 10.2 TCAP MYOT
38 muscular dystrophy, limb-girdle, autosomal recessive 7 10.2 TTN TCAP MYOT
39 autosomal recessive limb-girdle muscular dystrophy 10.2 TTN TCAP MYOT
40 muscular dystrophy, limb-girdle, autosomal dominant 1 10.2 TCAP MYOT BAG3
41 autosomal recessive limb-girdle muscular dystrophy type 2j 10.1 TTN TCAP MYOT
42 autosomal recessive limb-girdle muscular dystrophy type 2g 10.1 TTN TCAP MYOT
43 autosomal recessive limb-girdle muscular dystrophy type 2a 10.1 TTN TCAP MYOT
44 autosomal recessive limb-girdle muscular dystrophy type 2d 10.1 TTN TCAP MYOT
45 isolated elevated serum creatine phosphokinase levels 10.1 TTN TCAP MYOT
46 emery-dreifuss muscular dystrophy 4, autosomal dominant 10.1 FHL1 EMD
47 muscular dystrophy, limb-girdle, autosomal recessive 2 10.1 TTN TCAP MYOT
48 nemaline myopathy 10 10.1 KLHL40 CFL2
49 emery-dreifuss muscular dystrophy 10.1
50 bethlem myopathy 1 10.0 NEB MYOT EMD

Graphical network of the top 20 diseases related to Reducing Body Myopathy 1a:



Diseases related to Reducing Body Myopathy 1a

Symptoms & Phenotypes for Reducing Body Myopathy 1a

MGI Mouse Phenotypes related to Reducing Body Myopathy 1a:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.9 BAG3 CFL2 EMD FHL1 FLNC LDB3
2 cardiovascular system MP:0005385 9.61 BAG3 EMD FHL1 FLNC KLHL40 LDB3
3 muscle MP:0005369 9.36 BAG3 CFL2 EMD FHL1 FLNC KLHL40

Drugs & Therapeutics for Reducing Body Myopathy 1a

Search Clinical Trials , NIH Clinical Center for Reducing Body Myopathy 1a

Genetic Tests for Reducing Body Myopathy 1a

Anatomical Context for Reducing Body Myopathy 1a

MalaCards organs/tissues related to Reducing Body Myopathy 1a:

40
Skeletal Muscle

Publications for Reducing Body Myopathy 1a

Articles related to Reducing Body Myopathy 1a:

(show top 50) (show all 52)
# Title Authors PMID Year
1
FHL1-mutated reducing body myopathy. 61
31803991 2020
2
FHL1-related myopathy may not be classified by reducing bodies in muscle biopsy. 61
32001145 2020
3
[Childhood reducing body myopathy caused by FHL1 gene variation in a child]. 61
32102154 2020
4
FHL1-related clinical, muscle MRI and genetic features in six Chinese patients with reducing body myopathy. 61
31273321 2019
5
Concurrent positive anti-3-hydroxy-3-methylglutaryl-coenzyme a reductase antibody with reducing body myopathy: Possible double trouble. 61
31204143 2019
6
Gluteus maximus hypertrophy: A diagnostic clue in four and a half LIM domain 1-mutated reducing body myopathy. 61
28694073 2017
7
Muscle hypertrophy as the presenting sign in a patient with a complete FHL1 deletion. 61
27409453 2016
8
X-linked Recessive Distal Myopathy With Hypertrophic Cardiomyopathy Caused by a Novel Mutation in the FHL1 Gene. 61
25246303 2015
9
Necklace cytoplasmic bodies in hereditary myopathy with early respiratory failure. 61
25253871 2015
10
Fhl1 W122S causes loss of protein function and late-onset mild myopathy. 61
25274776 2015
11
A case of adult-onset reducing body myopathy presenting a novel clinical feature, asymmetrical involvement of the sternocleidomastoid and trapezius muscles. 61
24928078 2014
12
FHL1 mutants that cause clinically distinct human myopathies form protein aggregates and impair myoblast differentiation. 61
24634512 2014
13
Aggresome-Autophagy Involvement in a Sarcopenic Patient with Rigid Spine Syndrome and a p.C150R Mutation in FHL1 Gene. 61
25191266 2014
14
Loss of FHL1 induces an age-dependent skeletal muscle myopathy associated with myofibrillar and intermyofibrillar disorganization in mice. 61
23975679 2014
15
Skeletal muscle biopsy analysis in reducing body myopathy and other FHL1-related disorders. 61
23965743 2013
16
Novel FHL1 mutation in a family with reducing body myopathy. 61
23169582 2013
17
[Myofibrillar myopaathy]. 61
24291893 2013
18
Selective muscle involvement in a family affected by a second LIM domain mutation of fhl1: an imaging study using computed tomography. 61
22541254 2012
19
Protein aggregation in congenital myopathies. 61
22172423 2011
20
Reducing body myopathy and other FHL1-related muscular disorders. 61
22172421 2011
21
Christianson syndrome in a patient with an interstitial Xq26.3 deletion. 61
21932316 2011
22
A study of FHL1, BAG3, MATR3, PTRF and TCAP in Australian muscular dystrophy patients. 61
21683594 2011
23
Four and a half LIM protein 1 gene mutations cause four distinct human myopathies: a comprehensive review of the clinical, histological and pathological features. 61
21310615 2011
24
Familial reducing body myopathy with cytoplasmic bodies and rigid spine revisited: identification of a second LIM domain mutation in FHL1. 61
20571991 2010
25
Muscle MRI in FHL1-linked reducing body myopathy. 61
19616434 2009
26
SLIMMER (FHL1B/KyoT3) interacts with the proapoptotic protein Siva-1 (CD27BP) and delays skeletal myoblast apoptosis. 61
19643733 2009
27
Consequences of mutations within the C terminus of the FHL1 gene. 61
19687455 2009
28
Clinical, histological and genetic characterization of reducing body myopathy caused by mutations in FHL1. 61
19181672 2009
29
Novel FHL1 mutations in fatal and benign reducing body myopathy. 61
19171836 2009
30
Rigid spine syndrome caused by a novel mutation in four-and-a-half LIM domain 1 gene (FHL1). 61
18952429 2008
31
Identification of FHL1 as a regulator of skeletal muscle mass: implications for human myopathy. 61
19075112 2008
32
Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy. 61
18274675 2008
33
Familial reducing body myopathy. 61
16919903 2007
34
Unfolded protein response and aggresome formation in hereditary reducing-body myopathy. 61
17099882 2007
35
Delayed or late-onset type II glycogenosis with globular inclusions. 61
15986226 2005
36
Ultrastructural detection of DNA fragmentation in myonuclei of fatal reducing body myopathy. 61
14986028 2004
37
Nucleolar characteristics of reducing bodies in reducing body myopathy. 61
14735304 2004
38
Reducing body myopathy with cytoplasmic bodies and rigid spine syndrome: a mixed congenital myopathy. 61
11571700 2001
39
[Reducing body myopathy]. 61
11555975 2001
40
Adult onset reducing body myopathy. 61
10619716 1999
41
Familial mixed congenital myopathy with rigid spine phenotype. 61
9121497 1997
42
Fatal reducing body myopathy. Ultrastructural and immunohistochemical observations. 61
7722535 1995
43
Reducing bodies in distal myopathy with rimmed vacuole formation. 61
7709723 1995
44
Reducing body myopathy and desmin storage in skeletal muscle: morphological and biochemical findings. 61
8140891 1994
45
A unique case of reducing body myopathy. 61
1314327 1992
46
[Reducing body myopathy--a case report]. 61
1321016 1992
47
New observations in reducing body myopathy. 61
4000482 1985
48
A benign form of reducing body myopathy. 61
6306460 1983
49
[Granular body myopathy (so-called reducing body myopathy)]. 61
7088899 1982
50
[Reducing body myopathy--ultrastructure and classification (author's transl)]. 61
6269277 1981

Variations for Reducing Body Myopathy 1a

Expression for Reducing Body Myopathy 1a

Search GEO for disease gene expression data for Reducing Body Myopathy 1a.

Pathways for Reducing Body Myopathy 1a

Pathways related to Reducing Body Myopathy 1a according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.78 TTN TCAP NEB MYOM1

GO Terms for Reducing Body Myopathy 1a

Cellular components related to Reducing Body Myopathy 1a according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.2 TTN TCAP NFATC1 NEB MYOT MYOM3
2 cytoskeleton GO:0005856 9.88 NEB MYOT MAP7D3 LDB3 FLNC CFL2
3 M band GO:0031430 9.54 TTN MYOM3 MYOM1
4 I band GO:0031674 9.46 TTN TCAP KLHL40 CFL2
5 striated muscle thin filament GO:0005865 9.43 TTN MYOM3 MYOM1
6 Z disc GO:0030018 9.36 TTN TCAP NRAP NEB MYOT MYOM3
7 sarcomere GO:0030017 9.35 TTN TCAP NEB MYOM3 MYOM1

Biological processes related to Reducing Body Myopathy 1a according to GeneCards Suite gene sharing:

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 actin filament organization GO:0007015 9.84 TTN MYOM3 MYOM1 CFL2
2 muscle contraction GO:0006936 9.83 TTN MYOT MYOM3 MYOM1 EMD
3 muscle organ development GO:0007517 9.75 NEB FHL1 EMD
4 muscle filament sliding GO:0030049 9.7 TTN TCAP NEB
5 cardiac muscle tissue morphogenesis GO:0055008 9.67 TTN TCAP MYOM3 MYOM1
6 striated muscle contraction GO:0006941 9.65 TTN MYOM3 MYOM1
7 muscle fiber development GO:0048747 9.63 NRAP NEB FLNC
8 cardiac myofibril assembly GO:0055003 9.62 TTN TCAP MYOM3 MYOM1
9 muscle cell cellular homeostasis GO:0046716 9.59 CFL2 BAG3
10 positive regulation of protein export from nucleus GO:0046827 9.58 EMD BAG3
11 striated muscle myosin thick filament assembly GO:0071688 9.58 TTN MYOM3 MYOM1
12 protein kinase A signaling GO:0010737 9.57 TTN MYOM1
13 cardiac muscle hypertrophy GO:0003300 9.56 TTN TCAP
14 cardiac muscle fiber development GO:0048739 9.56 TTN TCAP MYOM3 MYOM1
15 detection of muscle stretch GO:0035995 9.55 TTN TCAP
16 cardiac muscle thin filament assembly GO:0071691 9.51 NRAP NEB
17 sarcomerogenesis GO:0048769 9.49 TTN TCAP
18 skeletal muscle thin filament assembly GO:0030240 9.46 TTN TCAP MYOM3 MYOM1
19 skeletal muscle myosin thick filament assembly GO:0030241 9.26 TTN TCAP MYOM3 MYOM1
20 sarcomere organization GO:0045214 9.1 TTN TCAP MYOM3 MYOM1 LDB3 CFL2

Molecular functions related to Reducing Body Myopathy 1a according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.2 TTN TCAP NRAP NFATC1 NEB MYOT
2 actin filament binding GO:0051015 9.73 TTN NRAP NEB MYOM3 MYOM1 CFL2
3 actin binding GO:0003779 9.7 NRAP NEB MYOT LDB3 FLNC EMD
4 muscle alpha-actinin binding GO:0051371 9.35 TTN NRAP MYOM3 MYOM1 LDB3
5 structural constituent of muscle GO:0008307 9.1 TTN TCAP NEB MYOT MYOM3 MYOM1

Sources for Reducing Body Myopathy 1a

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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30 HMDB
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32 ICD10
33 ICD10 via Orphanet
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61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
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72 UMLS via Orphanet
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