MCID: MSC193
MIFTS: 24

Muscular Lipidosis

Categories: Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Muscular Lipidosis

MalaCards integrated aliases for Muscular Lipidosis:

Name: Muscular Lipidosis 59
Lipid Storage Myopathy 59 55

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

UMLS via Orphanet 73 C0410214
Orphanet 59 ORPHA206953

Summaries for Muscular Lipidosis

MalaCards based summary : Muscular Lipidosis, also known as lipid storage myopathy, is related to multiple acyl-coa dehydrogenase deficiency and lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency. An important gene associated with Muscular Lipidosis is ACADS (Acyl-CoA Dehydrogenase Short Chain), and among its related pathways/superpathways is Metabolism. Affiliated tissues include skeletal muscle, heart and liver, and related phenotypes are Decreased viability and Decreased viability

Related Diseases for Muscular Lipidosis

Diseases related to Muscular Lipidosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 80)
# Related Disease Score Top Affiliating Genes
1 multiple acyl-coa dehydrogenase deficiency 29.1 ETFDH ACADS
2 lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency 13.0
3 acyl-coa dehydrogenase, short-chain, deficiency of 12.4
4 neutral lipid storage disease with myopathy 11.8
5 lipidosis with triglycerid storage disease 11.4
6 myopathy 10.9
7 lipid storage disease 10.4
8 ichthyosis 10.3
9 carnitine deficiency, myopathic 10.3
10 hypotonia 10.3
11 mitochondrial myopathy 10.2
12 hypoglycemia 10.2
13 polymyositis 10.2
14 atrial standstill 1 10.1
15 myositis 10.1
16 chanarin-dorfman syndrome 10.1
17 dermatomyositis 10.1
18 respiratory failure 10.1
19 familial hyperlipidemia 10.1
20 reye syndrome 10.1
21 glycogen storage disease 10.1
22 dysphagia 10.1
23 encephalopathy 10.0
24 acyl-coa dehydrogenase deficiency 10.0
25 alcohol dependence 9.9
26 cleft palate, isolated 9.9
27 inclusion body myositis 9.9
28 lipomatosis, multiple symmetric 9.9
29 marfan syndrome 9.9
30 cowden syndrome 1 9.9
31 neurofibromatosis, type iv, of riccardi 9.9
32 pectus excavatum 9.9
33 carnitine deficiency, systemic primary 9.9
34 mitochondrial complex iv deficiency 9.9
35 hyper-beta-alaninemia 9.9
36 malonyl-coa decarboxylase deficiency 9.9
37 lysosomal acid lipase deficiency 9.9
38 barth syndrome 9.9
39 mitochondrial myopathy with diabetes 9.9
40 kearns-sayre syndrome 9.9
41 carnitine palmitoyltransferase ii deficiency, infantile 9.9
42 left ventricular noncompaction 1 9.9
43 carbonic anhydrase va deficiency, hyperammonemia due to 9.9
44 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9
45 alkuraya-kucinskas syndrome 9.9
46 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 9.9
47 distal arthrogryposis 9.9
48 coenzyme q10 deficiency disease 9.9
49 organic acidemia 9.9
50 scoliosis 9.9

Graphical network of the top 20 diseases related to Muscular Lipidosis:



Diseases related to Muscular Lipidosis

Symptoms & Phenotypes for Muscular Lipidosis

GenomeRNAi Phenotypes related to Muscular Lipidosis according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 9.44 PIK3C2A
2 Decreased viability GR00221-A-1 9.44 PIK3C2A
3 Decreased viability GR00221-A-2 9.44 CHKA PIK3C2A
4 Decreased viability GR00221-A-4 9.44 CHKA PIK3C2A
5 Decreased viability GR00240-S-1 9.44 PIK3C2A
6 Decreased viability GR00342-S-1 9.44 PIK3C2A
7 Decreased viability GR00342-S-2 9.44 CHKA PIK3C2A
8 Decreased viability GR00342-S-3 9.44 PIK3C2A
9 Decreased viability GR00402-S-2 9.44 CHKA PIK3C2A
10 Decreased Hepatitis C Virus pseudoparticles (HCVpp; H77; genotype 1a) infection GR00234-A-1 8.96 CHKA PIK3C2A

Drugs & Therapeutics for Muscular Lipidosis

Search Clinical Trials , NIH Clinical Center for Muscular Lipidosis

Genetic Tests for Muscular Lipidosis

Anatomical Context for Muscular Lipidosis

MalaCards organs/tissues related to Muscular Lipidosis:

41
Skeletal Muscle, Heart, Liver, Skin, Kidney

Publications for Muscular Lipidosis

Articles related to Muscular Lipidosis:

(show top 50) (show all 158)
# Title Authors PMID Year
1
[A case of riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (glutaric aciduria type II)]. 9 38
10723193 2000
2
EMG study in the diagnosis and differential diagnosis of lipid storage myopathy. 9 38
11717923 1998
3
Absence of immunoreactive enzyme protein in short-chain acylcoenzyme A dehydrogenase deficiency. 9 38
2260861 1990
4
Two novel ETFDH mutations in a patient with lipid storage myopathy. 38
31306230 2019
5
Lipophagy in nonliver tissues and some related diseases: Pathogenic and therapeutic implications. 38
30537019 2019
6
Needle EMG, a jigsaw to disclose lipid storage myopathy due to Multiple Acyl-CoA Dehydrogenase Deficiency, a case report. 38
31136308 2019
7
A Novel Truncating FLAD1 Variant, Causing Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) in an 8-Year-Old Boy. 38
30311138 2019
8
Long-term outcomes of a patient with late-onset multiple acyl-CoA dehydrogenase deficiency caused by novel mutations in ETFDH: A case report. 38
30508893 2018
9
Characterization of two ETFDH mutations in a novel case of riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency. 38
30424791 2018
10
Two cases of glutaric aciduria type II: how to differentiate from inflammatory myopathies? 38
30451603 2018
11
Post-mortem detection of FLAD1 mutations in 2 Turkish siblings with hypotonia in early infancy. 38
30061063 2018
12
Persistent hypoglycemia associated with lipid storage myopathy in a paint foal. 38
29957835 2018
13
Lipid Storage Myopathy with Ketonuria: A Case of Fatty Acid Oxidation-Related Myopathy and Encephalopathy due to Multiple Acyl-CoA Dehydrogenase Deficiency. 38
30271477 2018
14
Neutral lipid storage disease with myopathy: Further phenotypic characterization of a rare PNPLA2 variant. 38
29779757 2018
15
Patient with multiple acyl-CoA dehydrogenase deficiency disease and ETFDH mutations benefits from riboflavin therapy: a case report. 38
29615056 2018
16
Dietary intervention rescues myopathy associated with neurofibromatosis type 1. 38
29228356 2018
17
Heterogeneous Phenotypes in Lipid Storage Myopathy Due to ETFDH Gene Mutations. 38
28456887 2018
18
Compound heterozygous mutations in electron transfer flavoprotein dehydrogenase identified in a young Chinese woman with late-onset glutaric aciduria type II. 38
28950901 2017
19
Analysis of lipid profile in lipid storage myopathy. 38
27428459 2016
20
Significant clinical heterogeneity with similar ETFDH genotype in three Chinese patients with late-onset multiple acyl-CoA dehydrogenase deficiency. 38
27000805 2016
21
Lipolysis and lipophagy in lipid storage myopathies. 38
27085974 2016
22
Skeletal Muscle Magnetic Resonance Imaging of the Lower Limbs in Late-onset Lipid Storage Myopathy with Electron Transfer Flavoprotein Dehydrogenase Gene Mutations. 38
27270537 2016
23
Severe sensory neuropathy in patients with adult-onset multiple acyl-CoA dehydrogenase deficiency. 38
26821934 2016
24
Fulminant lipid storage myopathy due to multiple acyl-coenzyme a dehydrogenase deficiency. 38
25556768 2015
25
Refractory Hyperlactatemia with Organ Insufficiency in Lipid Storage Myopathy. 38
26265524 2015
26
Bent spine syndrome as an initial manifestation of late-onset multiple acyl-CoA dehydrogenase deficiency: a case report and literature review. 38
26205240 2015
27
Spectrum of metabolic myopathies. 38
24997454 2015
28
A myopathy with unusual features caused by PNPLA2 gene mutations. 38
25287355 2015
29
Unilateral symptomatic intracranial arterial stenosis and myopathy in an adolescent with Graves disease: a case report of an high-resolution magnetic resonance imaging study. 38
25444029 2015
30
Metabolic Encephalopathy and Lipid Storage Myopathy Associated with a Presumptive Mitochondrial Fatty Acid Oxidation Defect in a Dog. 38
26664991 2015
31
A case of late-onset riboflavin responsive multiple acyl-CoA dehydrogenase deficiency (MADD) with a novel mutation in ETFDH gene. 38
25913573 2015
32
Myopathy during treatment with the antianginal drug ranolazine. 38
25466697 2014
33
[Mutation analysis for a family affected with riboflavin responsive-multiple acyl-CoA dehydrogenase deficiency]. 38
25119904 2014
34
Novel ETFDH mutation and imaging findings in an adult with glutaric aciduria type II. 38
23893693 2014
35
[Comparison of clinical characteristics of patients with riboflavin responsive lipid storage myopathy versus polymyositis]. 38
24767291 2014
36
Clinical and skeletal muscle biopsy characteristics of 25 patients with floppy infant syndrome. 38
23743156 2013
37
Disorders of fatty acid oxidation. 38
23622388 2013
38
Subclinical myopathy in a child with neutral lipid storage disease and mutations in the PNPLA2 gene. 38
23146629 2013
39
Lipid storage myopathy with clinical markers of Marfan syndrome: A rare association. 38
23349609 2012
40
Value of muscle enzyme measurement in evaluating different neuromuscular diseases. 38
22137979 2012
41
Lipid Storage Myopathy in Behçet's Disease: A Rare Cause of Elevated Serum Creatine Kinases Levels. 38
22937450 2012
42
The phenotypic spectrum of neutral lipid storage myopathy due to mutations in the PNPLA2 gene. 38
21544567 2011
43
Barth syndrome diagnosed in the subclinical stage of heart failure based on the presence of lipid storage myopathy and isolated noncompaction of the ventricular myocardium. 38
21932011 2011
44
Eponym: Barth syndrome. 38
21947198 2011
45
Molecular analysis of 51 unrelated pedigrees with late-onset multiple acyl-CoA dehydrogenation deficiency (MADD) in southern China confirmed the most common ETFDH mutation and high carrier frequency of c.250G>A. 38
21347544 2011
46
Lipid storage myopathy. 38
21046290 2011
47
A case of late onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency manifesting as recurrent rhabdomyolysis and acute renal failure. 38
22041377 2011
48
High frequency of ETFDH c.250G>A mutation in Taiwanese patients with late-onset lipid storage myopathy. 38
20370797 2010
49
A novel PNPLA2 mutation causes neutral lipid storage disease with myopathy (NLSDM) presenting muscular dystrophic features with lipid storage and rimmed vacuoles. 38
21073837 2010
50
Metabolic myopathies. 38
20676808 2010

Variations for Muscular Lipidosis

Expression for Muscular Lipidosis

Search GEO for disease gene expression data for Muscular Lipidosis.

Pathways for Muscular Lipidosis

Pathways related to Muscular Lipidosis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.57 PIK3C2A ETFDH CHKA ACADS

GO Terms for Muscular Lipidosis

Cellular components related to Muscular Lipidosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial matrix GO:0005759 8.62 ETFDH ACADS

Biological processes related to Muscular Lipidosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 fatty acid beta-oxidation using acyl-CoA dehydrogenase GO:0033539 8.62 ETFDH ACADS

Molecular functions related to Muscular Lipidosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 flavin adenine dinucleotide binding GO:0050660 8.62 ETFDH ACADS

Sources for Muscular Lipidosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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