LSMFLAD
MCID: LPD042
MIFTS: 19

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 57 75 29 6
Lsmflad 57 75
Lipid Storage Myopathy Due to Flad1 Deficiency 75

Characteristics:

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, 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 dysphagia and respiratory insufficiency

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...

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 dysphagia 32 HP:0002015
2 respiratory insufficiency 32 HP:0002093
3 scoliosis 32 occasional (7.5%) HP:0002650
4 myopathy 32 HP:0003198
5 elevated serum creatine phosphokinase 32 occasional (7.5%) HP:0003236
6 feeding difficulties 32 HP:0011968
7 cardiomyopathy 32 occasional (7.5%) HP:0001638
8 proximal muscle weakness 32 HP:0003701
9 generalized hypotonia 32 HP:0001290
10 exercise intolerance 32 HP:0003546
11 supraventricular tachycardia 32 occasional (7.5%) HP:0004755
12 organic aciduria 32 HP:0001992
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...

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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