MCID: LPD042
MIFTS: 30

Lipid Storage Myopathy Due to Flavin Adenine Dinucleotide Synthetase Deficiency

Categories: Genetic diseases, Neuronal diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Lipid Storage Myopathy Due to Flavin Adenine Dinucleotide...

MalaCards integrated aliases for Lipid Storage Myopathy Due to Flavin Adenine Dinucleotide Synthetase Deficiency:

Name: Lipid Storage Myopathy Due to Flavin Adenine Dinucleotide Synthetase Deficiency 57 75 29 6
Lsmflad 57 75
Multiple Acyl-Coa Dehydrogenase Deficiency, Severe Neonatal Type 59
Multiple Acyl-Coa Dehydrogenase Deficiency, Mild Type 59
Glutaric Aciduria Type 2, Severe Neonatal Type 59
Lipid Storage Myopathy Due to Flad1 Deficiency 75
Mad Deficiency, Severe Neonatal Type 59
Glutaric Aciduria Type 2, Mild Type 59
Madd, Severe Neonatal Type 59
Mad Deficiency, Mild Type 59
Madd, Mild Type 59

Characteristics:

Orphanet epidemiological data:

59

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
highly variable phenotype
some patients present in infancy with a severe disorder that may result in early death
some patients have adult-onset of myopathy
some patients may respond well to riboflavin supplementation


HPO:

32
lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency:
Onset and clinical course phenotypic variability
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Lipid Storage Myopathy Due to Flavin Adenine Dinucleotide...

UniProtKB/Swiss-Prot : 75 Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency: An autosomal recessive, inborn error of metabolism characterized by variable mitochondrial dysfunction. Clinical features range from severe cardiac and respiratory insufficiency with onset in infancy and resulting in early death, to mild muscle weakness with onset in adulthood. Some patients show significant improvement with riboflavin treatment. Analysis of skeletal muscle show multiple mitochondrial respiratory chain deficiency and a lipid storage myopathy in most patients.

MalaCards based summary : Lipid Storage Myopathy Due to Flavin Adenine Dinucleotide Synthetase Deficiency, also known as lsmflad, is related to chanarin-dorfman syndrome and riboflavin deficiency. An important gene associated with Lipid Storage Myopathy Due to Flavin Adenine Dinucleotide Synthetase Deficiency is FLAD1 (Flavin Adenine Dinucleotide Synthetase 1), and among its related pathways/superpathways is Metabolism. Affiliated tissues include skeletal muscle, and related phenotypes are generalized hypotonia and cardiomyopathy

OMIM : 57 Lipid storage myopathy due to FLAD1 deficiency is an autosomal recessive inborn error of metabolism that includes variable mitochondrial dysfunction. The phenotype is extremely heterogeneous: some patients have a severe disorder with onset in infancy and cardiac and respiratory insufficiency resulting in early death, whereas others have a milder course with onset of muscle weakness in adulthood. Some patients show significant improvement with riboflavin treatment (summary by Olsen et al., 2016). (255100)

Related Diseases for Lipid Storage Myopathy Due to Flavin Adenine Dinucleotide...

Diseases related to Lipid Storage Myopathy Due to Flavin Adenine Dinucleotide Synthetase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 chanarin-dorfman syndrome 9.2 ETFB ETFDH
2 riboflavin deficiency 8.6 ETFA ETFDH FLAD1
3 multiple acyl-coa dehydrogenase deficiency 8.1 ETFA ETFB ETFDH FLAD1

Symptoms & Phenotypes for Lipid Storage Myopathy Due to Flavin Adenine Dinucleotide...

Symptoms via clinical synopsis from OMIM:

57
Muscle Soft Tissue:
muscle weakness
exercise intolerance
hypotonia
lipid storage myopathy
proximal limb muscle weakness
more
Abdomen Gastrointestinal:
feeding difficulties
swallowing difficulties

Skeletal Spine:
scoliosis (in some patients)

Respiratory:
respiratory insufficiency

Laboratory Abnormalities:
organic aciduria
increased plasma acylcarnitine species
increased urinary ethylmalonic acid
increased urinary adipic acid
increased serum creatine kinase (in some patients)

Cardiovascular Heart:
cardiomyopathy (in some patients)
supraventricular tachycardia (in some patients)


Clinical features from OMIM:

255100

Human phenotypes related to Lipid Storage Myopathy Due to Flavin Adenine Dinucleotide Synthetase Deficiency:

32 (show all 13)
# Description HPO Frequency HPO Source Accession
1 generalized hypotonia 32 HP:0001290
2 cardiomyopathy 32 occasional (7.5%) HP:0001638
3 organic aciduria 32 HP:0001992
4 dysphagia 32 HP:0002015
5 respiratory insufficiency 32 HP:0002093
6 scoliosis 32 occasional (7.5%) HP:0002650
7 myopathy 32 HP:0003198
8 elevated serum creatine phosphokinase 32 occasional (7.5%) HP:0003236
9 exercise intolerance 32 HP:0003546
10 proximal muscle weakness 32 HP:0003701
11 supraventricular tachycardia 32 occasional (7.5%) HP:0004755
12 feeding difficulties 32 HP:0011968
13 fatty replacement of skeletal muscle 32 HP:0012548

Drugs & Therapeutics for Lipid Storage Myopathy Due to Flavin Adenine Dinucleotide...

Search Clinical Trials , NIH Clinical Center for Lipid Storage Myopathy Due to Flavin Adenine Dinucleotide Synthetase Deficiency

Genetic Tests for Lipid Storage Myopathy Due to Flavin Adenine Dinucleotide...

Genetic tests related to Lipid Storage Myopathy Due to Flavin Adenine Dinucleotide Synthetase Deficiency:

# Genetic test Affiliating Genes
1 Lipid Storage Myopathy Due to Flavin Adenine Dinucleotide Synthetase Deficiency 29 FLAD1

Anatomical Context for Lipid Storage Myopathy Due to Flavin Adenine Dinucleotide...

MalaCards organs/tissues related to Lipid Storage Myopathy Due to Flavin Adenine Dinucleotide Synthetase Deficiency:

41
Skeletal Muscle

Publications for Lipid Storage Myopathy Due to Flavin Adenine Dinucleotide...

Variations for Lipid Storage Myopathy Due to Flavin Adenine Dinucleotide...

UniProtKB/Swiss-Prot genetic disease variations for Lipid Storage Myopathy Due to Flavin Adenine Dinucleotide Synthetase Deficiency:

75
# Symbol AA change Variation ID SNP ID
1 FLAD1 p.Arg530Cys VAR_077070 rs771466122

ClinVar genetic disease variations for Lipid Storage Myopathy Due to Flavin Adenine Dinucleotide Synthetase Deficiency:

6
(show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 FLAD1 NM_025207.4(FLAD1): c.401_404delTTCT (p.Phe134Cysfs) deletion Pathogenic rs876661313 GRCh38 Chromosome 1, 154988133: 154988136
2 FLAD1 NM_025207.4(FLAD1): c.401_404delTTCT (p.Phe134Cysfs) deletion Pathogenic rs876661313 GRCh37 Chromosome 1, 154960609: 154960612
3 FLAD1 NM_025207.4(FLAD1): c.526_537delGCAGGGGGCATCinsCA (p.Ala176Glnfs) indel Pathogenic rs876661312 GRCh38 Chromosome 1, 154988258: 154988269
4 FLAD1 NM_025207.4(FLAD1): c.526_537delGCAGGGGGCATCinsCA (p.Ala176Glnfs) indel Pathogenic rs876661312 GRCh37 Chromosome 1, 154960734: 154960745
5 FLAD1 NM_025207.4(FLAD1): c.568_569dupGC (p.Val191Glnfs) duplication Pathogenic rs876661310 GRCh38 Chromosome 1, 154988300: 154988301
6 FLAD1 NM_025207.4(FLAD1): c.568_569dupGC (p.Val191Glnfs) duplication Pathogenic rs876661310 GRCh37 Chromosome 1, 154960776: 154960777
7 FLAD1 NM_025207.4(FLAD1): c.836delT (p.Phe279Serfs) deletion Pathogenic rs876661311 GRCh37 Chromosome 1, 154961044: 154961044
8 FLAD1 NM_025207.4(FLAD1): c.836delT (p.Phe279Serfs) deletion Pathogenic rs876661311 GRCh38 Chromosome 1, 154988568: 154988568
9 FLAD1 NM_025207.4(FLAD1): c.1484_1486delCCT (p.Ser495del) deletion Pathogenic rs876661309 GRCh38 Chromosome 1, 154990458: 154990460
10 FLAD1 NM_025207.4(FLAD1): c.1484_1486delCCT (p.Ser495del) deletion Pathogenic rs876661309 GRCh37 Chromosome 1, 154962934: 154962936
11 FLAD1 NM_025207.4(FLAD1): c.1588C> T (p.Arg530Cys) single nucleotide variant Pathogenic rs771466122 GRCh37 Chromosome 1, 154965222: 154965222
12 FLAD1 NM_025207.4(FLAD1): c.1588C> T (p.Arg530Cys) single nucleotide variant Pathogenic rs771466122 GRCh38 Chromosome 1, 154992746: 154992746

Expression for Lipid Storage Myopathy Due to Flavin Adenine Dinucleotide...

Search GEO for disease gene expression data for Lipid Storage Myopathy Due to Flavin Adenine Dinucleotide Synthetase Deficiency.

Pathways for Lipid Storage Myopathy Due to Flavin Adenine Dinucleotide...

Pathways related to Lipid Storage Myopathy Due to Flavin Adenine Dinucleotide Synthetase Deficiency according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.65 ETFA ETFB ETFDH FLAD1 SLC25A32

GO Terms for Lipid Storage Myopathy Due to Flavin Adenine Dinucleotide...

Cellular components related to Lipid Storage Myopathy Due to Flavin Adenine Dinucleotide Synthetase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.35 ETFA ETFB ETFDH FLAD1 SLC25A32
2 mitochondrial membrane GO:0031966 9.16 ETFDH SLC25A32
3 mitochondrial matrix GO:0005759 8.92 ETFA ETFB ETFDH FLAD1

Biological processes related to Lipid Storage Myopathy Due to Flavin Adenine Dinucleotide Synthetase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.56 ETFA ETFB ETFDH FLAD1
2 electron transport chain GO:0022900 9.33 ETFA ETFB ETFDH
3 respiratory electron transport chain GO:0022904 9.13 ETFA ETFB ETFDH
4 fatty acid beta-oxidation using acyl-CoA dehydrogenase GO:0033539 8.8 ETFA ETFB ETFDH

Molecular functions related to Lipid Storage Myopathy Due to Flavin Adenine Dinucleotide Synthetase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 flavin adenine dinucleotide binding GO:0050660 8.96 ETFA ETFDH
2 electron transfer activity GO:0009055 8.8 ETFA ETFB ETFDH

Sources for Lipid Storage Myopathy Due to Flavin Adenine Dinucleotide...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
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34 ICD10 via Orphanet
35 ICD9CM
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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