LSMFLAD
MCID: LPD042
MIFTS: 21

Lipid Storage Myopathy Due to Flavin Adenine Dinucleotide Synthetase Deficiency (LSMFLAD)

Categories: Genetic diseases, Metabolic 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 56 73 29 6
Lsmflad 56 73
Myopathy, Lipid Storage, Due to Flavin Adenine Dinucleotide Synthetase Deficiency 39
Lipid Storage Myopathy Due to Flad1 Deficiency 73

Characteristics:

OMIM:

56
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:

31
lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency:
Inheritance autosomal recessive inheritance


Classifications:



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

UniProtKB/Swiss-Prot : 73 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, is also known as lsmflad. An important gene associated with Lipid Storage Myopathy Due to Flavin Adenine Dinucleotide Synthetase Deficiency is FLAD1 (Flavin Adenine Dinucleotide Synthetase 1). Affiliated tissues include skeletal muscle, and related phenotypes are scoliosis and cardiomyopathy

OMIM : 56 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...

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

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

31 (show all 13)
# Description HPO Frequency HPO Source Accession
1 scoliosis 31 occasional (7.5%) HP:0002650
2 cardiomyopathy 31 occasional (7.5%) HP:0001638
3 supraventricular tachycardia 31 occasional (7.5%) HP:0004755
4 elevated serum creatine kinase 31 occasional (7.5%) HP:0003236
5 dysphagia 31 HP:0002015
6 respiratory insufficiency 31 HP:0002093
7 feeding difficulties 31 HP:0011968
8 myopathy 31 HP:0003198
9 generalized hypotonia 31 HP:0001290
10 proximal muscle weakness 31 HP:0003701
11 exercise intolerance 31 HP:0003546
12 organic aciduria 31 HP:0001992
13 fatty replacement of skeletal muscle 31 HP:0012548

Symptoms via clinical synopsis from OMIM:

56
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 serum creatine kinase (in some patients)
increased plasma acylcarnitine species
increased urinary ethylmalonic acid
increased urinary adipic acid

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

Clinical features from OMIM:

255100

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:

40
Skeletal Muscle

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

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

# Title Authors PMID Year
1
Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency. 56 6
27259049 2016
2
Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies. 56 6
25058219 2014
3
Lipid storage myopathy: successful treatment with propranolol. 56
6788163 1981
4
Myopathy associated with abnormal lipid metabolism in skeletal muscle. 56
4179573 1969

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

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

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FLAD1 NM_025207.5(FLAD1):c.397_400TTCT[1] (p.Phe134fs)short repeat Pathogenic 224732 rs876661313 1:154960605-154960608 1:154988129-154988132
2 FLAD1 NM_025207.5(FLAD1):c.526_537delinsCA (p.Ala176fs)indel Pathogenic 224731 rs876661312 1:154960734-154960745 1:154988258-154988269
3 FLAD1 NM_025207.5(FLAD1):c.568_569dup (p.Val191fs)duplication Pathogenic 224728 rs876661310 1:154960775-154960776 1:154988299-154988300
4 FLAD1 NM_025207.5(FLAD1):c.836del (p.Phe279fs)deletion Pathogenic 224730 rs876661311 1:154961043-154961043 1:154988567-154988567
5 FLAD1 NM_025207.5(FLAD1):c.1484_1486del (p.Ser495del)deletion Pathogenic 224727 rs876661309 1:154962932-154962934 1:154990456-154990458
6 FLAD1 NM_025207.5(FLAD1):c.1588C>T (p.Arg530Cys)SNV Pathogenic 224729 rs771466122 1:154965222-154965222 1:154992746-154992746

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

73
# Symbol AA change Variation ID SNP ID
1 FLAD1 p.Arg530Cys VAR_077070 rs771466122

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...

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

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

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