MCID: MSC193
MIFTS: 23

Muscular Lipidosis

Categories: Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Muscular Lipidosis

MalaCards integrated aliases for Muscular Lipidosis:

Name: Muscular Lipidosis 58
Lipid Storage Myopathy 58 54

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

UMLS via Orphanet 72 C0410214
Orphanet 58 ORPHA206953

Summaries for Muscular Lipidosis

MalaCards based summary : Muscular Lipidosis, also known as lipid storage myopathy, is related to acyl-coa dehydrogenase, short-chain, deficiency of and carnitine deficiency, systemic primary. An important gene associated with Muscular Lipidosis is ACADS (Acyl-CoA Dehydrogenase Short Chain). Affiliated tissues include heart, skeletal muscle and kidney, 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 84)
# Related Disease Score Top Affiliating Genes
1 acyl-coa dehydrogenase, short-chain, deficiency of 33.3 ETFDH ACADS
2 carnitine deficiency, systemic primary 29.6 ETFDH ACADS
3 carnitine palmitoyltransferase ii deficiency, infantile 29.5 ETFDH ACADS
4 chanarin-dorfman syndrome 29.5 ETFDH CHKA
5 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 29.4 PIK3C2A CHKA
6 myositis 29.3 PIK3C2A CHKA
7 mitochondrial metabolism disease 29.0 ETFDH ACADS
8 acyl-coa dehydrogenase deficiency 28.8 ETFDH CHKA ACADS
9 multiple acyl-coa dehydrogenase deficiency 28.8 ETFDH CHKA ACADS
10 lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency 13.0
11 neutral lipid storage disease with myopathy 11.8
12 lipidosis with triglycerid storage disease 11.4
13 myopathy 10.9
14 lipid storage disease 10.4
15 ichthyosis 10.3
16 carnitine deficiency, myopathic 10.3
17 hypotonia 10.3
18 mitochondrial myopathy 10.2
19 hypoglycemia 10.2
20 polymyositis 10.2
21 atrial standstill 1 10.1
22 dermatomyositis 10.1
23 respiratory failure 10.1
24 familial hyperlipidemia 10.1
25 reye syndrome 10.1
26 glycogen storage disease 10.1
27 dysphagia 10.1
28 encephalopathy 10.0
29 alcohol dependence 9.9
30 cleft palate, isolated 9.9
31 inclusion body myositis 9.9
32 lipomatosis, multiple symmetric 9.9
33 marfan syndrome 9.9
34 cowden syndrome 1 9.9
35 neurofibromatosis, type iv, of riccardi 9.9
36 pectus excavatum 9.9
37 mitochondrial complex iv deficiency 9.9
38 hyper-beta-alaninemia 9.9
39 malonyl-coa decarboxylase deficiency 9.9
40 lysosomal acid lipase deficiency 9.9
41 barth syndrome 9.9
42 mitochondrial myopathy with diabetes 9.9
43 kearns-sayre syndrome 9.9
44 left ventricular noncompaction 1 9.9
45 carbonic anhydrase va deficiency, hyperammonemia due to 9.9
46 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9
47 alkuraya-kucinskas syndrome 9.9
48 distal arthrogryposis 9.9
49 coenzyme q10 deficiency disease 9.9
50 organic acidemia 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:

40
Heart, Skeletal Muscle, Kidney, Liver, Skin

Publications for Muscular Lipidosis

Articles related to Muscular Lipidosis:

(show top 50) (show all 162)
# Title Authors PMID Year
1
[A case of riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (glutaric aciduria type II)]. 54 61
10723193 2000
2
EMG study in the diagnosis and differential diagnosis of lipid storage myopathy. 54 61
11717923 1998
3
Absence of immunoreactive enzyme protein in short-chain acylcoenzyme A dehydrogenase deficiency. 54 61
2260861 1990
4
Multiple acyl-coenzyme A dehydrogenase deficiency shows a possible founder effect and is the most frequent cause of lipid storage myopathy in Iran. 61
32007756 2020
5
Two cases of glutaric aciduria type II: how to differentiate from inflammatory myopathies? 61
30451603 2019
6
Late-onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (MADD): case reports and epidemiology of ETFDH gene mutations. 61
31852447 2019
7
Adolescent Hyperuricemia with Lipid Storage Myopathy: A Clinical Study. 61
31785094 2019
8
[Analysis of ETFDH gene variation in a Chinese family affected with lipid storage myopathy]. 61
31598946 2019
9
Two novel ETFDH mutations in a patient with lipid storage myopathy. 61
31306230 2019
10
Lipophagy in nonliver tissues and some related diseases: Pathogenic and therapeutic implications. 61
30537019 2019
11
Needle EMG, a jigsaw to disclose lipid storage myopathy due to Multiple Acyl-CoA Dehydrogenase Deficiency, a case report. 61
31136308 2019
12
A Novel Truncating FLAD1 Variant, Causing Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) in an 8-Year-Old Boy. 61
30311138 2019
13
Characterization of two ETFDH mutations in a novel case of riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency. 61
30424791 2018
14
Long-term outcomes of a patient with late-onset multiple acyl-CoA dehydrogenase deficiency caused by novel mutations in ETFDH: A case report. 61
30508893 2018
15
Post-mortem detection of FLAD1 mutations in 2 Turkish siblings with hypotonia in early infancy. 61
30061063 2018
16
Lipid Storage Myopathy with Ketonuria: A Case of Fatty Acid Oxidation-Related Myopathy and Encephalopathy due to Multiple Acyl-CoA Dehydrogenase Deficiency. 61
30271477 2018
17
Persistent hypoglycemia associated with lipid storage myopathy in a paint foal. 61
29957835 2018
18
Neutral lipid storage disease with myopathy: Further phenotypic characterization of a rare PNPLA2 variant. 61
29779757 2018
19
Patient with multiple acyl-CoA dehydrogenase deficiency disease and ETFDH mutations benefits from riboflavin therapy: a case report. 61
29615056 2018
20
Dietary intervention rescues myopathy associated with neurofibromatosis type 1. 61
29228356 2018
21
Heterogeneous Phenotypes in Lipid Storage Myopathy Due to ETFDH Gene Mutations. 61
28456887 2018
22
Compound heterozygous mutations in electron transfer flavoprotein dehydrogenase identified in a young Chinese woman with late-onset glutaric aciduria type II. 61
28950901 2017
23
Analysis of lipid profile in lipid storage myopathy. 61
27428459 2016
24
Significant clinical heterogeneity with similar ETFDH genotype in three Chinese patients with late-onset multiple acyl-CoA dehydrogenase deficiency. 61
27000805 2016
25
Lipolysis and lipophagy in lipid storage myopathies. 61
27085974 2016
26
Skeletal Muscle Magnetic Resonance Imaging of the Lower Limbs in Late-onset Lipid Storage Myopathy with Electron Transfer Flavoprotein Dehydrogenase Gene Mutations. 61
27270537 2016
27
Severe sensory neuropathy in patients with adult-onset multiple acyl-CoA dehydrogenase deficiency. 61
26821934 2016
28
Fulminant lipid storage myopathy due to multiple acyl-coenzyme a dehydrogenase deficiency. 61
25556768 2015
29
Refractory Hyperlactatemia with Organ Insufficiency in Lipid Storage Myopathy. 61
26265524 2015
30
Bent spine syndrome as an initial manifestation of late-onset multiple acyl-CoA dehydrogenase deficiency: a case report and literature review. 61
26205240 2015
31
Spectrum of metabolic myopathies. 61
24997454 2015
32
A myopathy with unusual features caused by PNPLA2 gene mutations. 61
25287355 2015
33
Unilateral symptomatic intracranial arterial stenosis and myopathy in an adolescent with Graves disease: a case report of an high-resolution magnetic resonance imaging study. 61
25444029 2015
34
Metabolic Encephalopathy and Lipid Storage Myopathy Associated with a Presumptive Mitochondrial Fatty Acid Oxidation Defect in a Dog. 61
26664991 2015
35
A case of late-onset riboflavin responsive multiple acyl-CoA dehydrogenase deficiency (MADD) with a novel mutation in ETFDH gene. 61
25913573 2015
36
Myopathy during treatment with the antianginal drug ranolazine. 61
25466697 2014
37
[Mutation analysis for a family affected with riboflavin responsive-multiple acyl-CoA dehydrogenase deficiency]. 61
25119904 2014
38
Novel ETFDH mutation and imaging findings in an adult with glutaric aciduria type II. 61
23893693 2014
39
[Comparison of clinical characteristics of patients with riboflavin responsive lipid storage myopathy versus polymyositis]. 61
24767291 2014
40
Clinical and skeletal muscle biopsy characteristics of 25 patients with floppy infant syndrome. 61
23743156 2013
41
Disorders of fatty acid oxidation. 61
23622388 2013
42
Subclinical myopathy in a child with neutral lipid storage disease and mutations in the PNPLA2 gene. 61
23146629 2013
43
Lipid storage myopathy with clinical markers of Marfan syndrome: A rare association. 61
23349609 2012
44
Value of muscle enzyme measurement in evaluating different neuromuscular diseases. 61
22137979 2012
45
Lipid Storage Myopathy in Behçet's Disease: A Rare Cause of Elevated Serum Creatine Kinases Levels. 61
22937450 2012
46
The phenotypic spectrum of neutral lipid storage myopathy due to mutations in the PNPLA2 gene. 61
21544567 2011
47
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. 61
21932011 2011
48
Eponym: Barth syndrome. 61
21947198 2011
49
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. 61
21347544 2011
50
Lipid storage myopathy. 61
21046290 2011

Variations for Muscular Lipidosis

Expression for Muscular Lipidosis

Search GEO for disease gene expression data for Muscular Lipidosis.

Pathways for Muscular Lipidosis

GO Terms for Muscular Lipidosis

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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